Congestive heart failure, and Recurrent urinary tract infections

Diseases related with Congestive heart failure and Recurrent urinary tract infections

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Recurrent urinary tract infections that can help you solving undiagnosed cases.


Top matches:

Medium match WHIM SYNDROME


WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).

WHIM SYNDROME Is also known as warts, hypogammaglobulinemia, infections, and myelokathexis syndrome|warts-infections-leukopenia-myelokatexis syndrome|wilm|warts-hypogammaglobulinemia-infections-myelokathexis syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Fever
  • Congestive heart failure
  • Immunodeficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WHIM SYNDROME

Medium match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1


Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Medium match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

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Other less relevant matches:

Medium match VACTERL/VATER ASSOCIATION


VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL/VATER ASSOCIATION Is also known as vacterl association|vater association

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about VACTERL/VATER ASSOCIATION

Medium match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Medium match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Medium match WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Low match SENSORINEURAL DEAFNESS WITH DILATED CARDIOMYOPATHY


Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.

SENSORINEURAL DEAFNESS WITH DILATED CARDIOMYOPATHY Is also known as neurosensory deafness with dilated cardiomyopathy|neurosensory hearing loss with dilated cardiomyopathy|cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant|sensorineural hearing loss with dilated cardiomyopathy

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cardiomyopathy
  • Congestive heart failure
  • Dilated cardiomyopathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SENSORINEURAL DEAFNESS WITH DILATED CARDIOMYOPATHY

Low match CONGENITAL ATRANSFERRINEMIA


Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.

CONGENITAL ATRANSFERRINEMIA Is also known as hypotransferrinemia, familial|congenital hypotransferrinemia

Related symptoms:

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fatigue
  • Congestive heart failure


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONGENITAL ATRANSFERRINEMIA

Low match PULMONARY HYPERTENSION, PRIMARY, 1; PPH1


Primary pulmonary arterial hypertension is a rare, often fatal, progressive vascular lung disease characterized by increased pulmonary vascular resistance and sustained elevation of mean pulmonary arterial pressure, leading to right ventricular hypertrophy and right heart failure. Pathologic features include a narrowing and thickening of small pulmonary vessels and plexiform lesions. There is pulmonary vascular remodeling of all layers of pulmonary arterial vessels: intimal thickening, smooth muscle cell hypertrophy or hyperplasia, adventitial fibrosis, and occluded vessels by in situ thrombosis (summary by Machado et al., 2009 and Han et al., 2013).Heterozygous mutations in the BMPR2 gene are found in nearly 70% of families with heritable PPH and in 25% of patients with sporadic disease. The disease is more common in women (female:male ratio of 1.7:1). However, the penetrance of PPH1 is incomplete: only about 10 to 20% of individuals with BMPR2 mutations develop the disease during their lifetime, suggesting that development of the disorder is triggered by other genetic or environmental factors. Patients with PPH1 are less likely to respond to acute vasodilater testing and are unlikely to benefit from treatment with calcium channel blockade (summary by Machado et al., 2009 and Han et al., 2013). Genetic Heterogeneity of Primary Pulmonary HypertensionPPH2 (OMIM ) is caused by mutation in the SMAD9 gene (OMIM ) on chromosome 13q13; PPH3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ) on chromosome 7q31; and PPH4 (OMIM ) is caused by mutation in the KCNK3 gene (OMIM ) on chromosome 2p23.See {265400} for a possible autosomal recessive form of PPH.Primary pulmonary hypertension may also be found in association with hereditary hemorrhagic telangiectasia type 1 (HHT1 ), caused by mutation in the ENG gene (OMIM ), and HHT2 (OMIM ), caused by mutation in the ACVRL1 (ALK1) gene (OMIM ).

PULMONARY HYPERTENSION, PRIMARY, 1; PPH1 Is also known as pulmonary arterial hypertension|pht|pah

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fatigue
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about PULMONARY HYPERTENSION, PRIMARY, 1; PPH1

Top 5 symptoms//phenotypes associated to Congestive heart failure and Recurrent urinary tract infections

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Recurrent urinary tract infections. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertension Failure to thrive Respiratory distress Hypothyroidism Ataxia Fatigue Visual impairment Scoliosis Vesicoureteral reflux Microcephaly Patent ductus arteriosus Sensorineural hearing impairment Abnormality of the kidney Abnormal facial shape Cryptorchidism Cataract Pneumonia Recurrent respiratory infections Hepatomegaly Renal insufficiency Depressivity Right ventricular hypertrophy Seizures Nystagmus Feeding difficulties Hydrocephalus Scarring Weight loss Tracheoesophageal fistula Glucose intolerance Sudden cardiac death Abnormal renal morphology Abnormality of the liver Irritability Pes planus Diabetes mellitus Strabismus Short stature Pain Tetralogy of Fallot Proteinuria Renal agenesis Abnormal cardiac septum morphology Postnatal growth retardation Abnormal heart morphology Atrial septal defect Intrauterine growth retardation Cleft palate Hip dislocation Pulmonary arterial hypertension Cardiomegaly Pulmonic stenosis Cirrhosis Ptosis Atelectasis Umbilical hernia Neutropenia Carious teeth Respiratory tract infection Otitis media Arthritis Hypospadias

Rare Symptoms - Less than 30% cases


Short thumb Gastroesophageal reflux Tachycardia Neoplasm Tachypnea Hemivertebrae Kyphoscoliosis Hypoplasia of penis Spina bifida Dyspnea Abdominal pain Small nail Renovascular hypertension Choanal atresia Autism Abnormality of the genital system Abnormal vertebral morphology Anal atresia Joint laxity Facial asymmetry Cough Abnormality of retinal pigmentation Atherosclerosis Urethral stenosis Ascites Sleep disturbance Right ventricular failure Dilated cardiomyopathy Autistic behavior Finger syndactyly Pallor Poor coordination B-cell lymphoma Ventricular septal defect Polyuria Abnormality of cardiovascular system morphology Polydactyly Constipation Low-set, posteriorly rotated ears Sinusitis Radioulnar synostosis Small for gestational age Ventricular hypertrophy Abnormality of nervous system morphology Clinodactyly of the 5th finger Hypogonadism Abnormality of the cardiovascular system Hypertrophic cardiomyopathy Carcinoma Respiratory failure Lymphoma Chest pain Vertigo Telangiectasia Insulin resistance Hypergonadotropic hypogonadism Reduced bone mineral density Hyperinsulinemia Fever Hyperreflexia Epicanthus Triphalangeal thumb Cardiomyopathy Unilateral renal agenesis Abnormality of female internal genitalia Obesity Ectopic kidney Kyphosis Vertebral segmentation defect Behavioral abnormality Abnormality of the dentition Absent radius Micrognathia Aplasia/Hypoplasia of the radius Delayed speech and language development Cognitive impairment Abnormality of the pancreas Abnormal carotid artery morphology Abnormality of the urethra Hoarse voice Aplasia/Hypoplasia of the iris Anorexia Hydroureter Pancytopenia Retinopathy Prematurely aged appearance Cerebral cortical atrophy Progressive sensorineural hearing impairment High forehead Emphysema Macrotia Polycystic ovaries Redundant skin Thrombocytopenia Inguinal hernia Cutis laxa Cholelithiasis Malabsorption Precocious puberty Congenital diaphragmatic hernia Oligohydramnios Pulmonary artery stenosis Respiratory insufficiency Involuntary movements Pectus excavatum Vascular tortuosity Supravalvular aortic stenosis Nephrocalcinosis Arterial stenosis Hypogonadotrophic hypogonadism Nephritis Generalized hypotonia Hernia Cor pulmonale Dilatation Muscular hypotonia Increased body weight Chronic otitis media Obsessive-compulsive behavior Tremor Bladder diverticulum Smooth philtrum Feeding difficulties in infancy Tubulointerstitial nephritis Type II diabetes mellitus Hepatic steatosis Urinary incontinence Hemolytic anemia Joint hyperflexibility Portal hypertension Arthralgia Full cheeks Cyanosis Pigmentary retinopathy Nephropathy Abnormality of female external genitalia Osteoporosis Recurrent otitis media Abnormality of skin pigmentation Abnormality of extrapyramidal motor function Retinal degeneration Recurrent cystitis Vitreous haze Localized hirsutism Thickened ears Pendular nystagmus Abnormality of renal calyx morphology Abnormality of prothrombin EEG with occipital slowing Anxiety Cleft lip Precocious puberty in females Oligospermia Abnormal retinal artery morphology Intellectual disability, moderate Dilatation of the bladder Coarse facial features Myocarditis Unilateral breast hypoplasia Glue ear Widely-spaced incisors Hyperlordosis Developmental regression Tubular atrophy Osteopenia Midface retrusion Myopathy Gait disturbance Hypertonia Attenuation of retinal blood vessels Macrocephaly Intellectual disability, mild Short nose Long philtrum Receptive language delay Myopia Malar flattening Wide nasal bridge Elevated serum creatinine Dysarthria Micropenis Depressed nasal bridge Acute hepatic failure Flexion contracture Absent speech Delayed skeletal maturation Recurrent bronchitis Elevated serum creatine phosphokinase Cerebellar hypoplasia Spasticity Pericarditis Subcapsular cataract Abnormality of the femoral head Glaucoma Granular macular appearance Multifocal atrial tachycardia Hyperostosis frontalis interna Hyperventilation Abnormal spermatogenesis Chronic infection Lumbar scoliosis Testicular atrophy Abnormality of dental color Abnormal left ventricle morphology Epigastric pain Abnormality of the optic disc Abnormal chorioretinal morphology Urethral stricture Abnormal renal physiology Alopecia of scalp Peripheral visual field loss Disinhibition Female hypogonadism Decreased glomerular filtration rate First degree atrioventricular block Retinal atrophy Tubulointerstitial fibrosis Urinary retention Elevated C-reactive protein level Poor fine motor coordination Pyelonephritis Chills Acute pancreatitis Achromatopsia Hepatic encephalopathy Melena Multinodular goiter Bull's eye maculopathy Protruding ear Vertical nystagmus Increased total bilirubin Frontal balding Hematemesis Retinal pigment epithelial atrophy Insulin-resistant diabetes mellitus Male hypogonadism High-frequency sensorineural hearing impairment Hepatic necrosis Chronic hepatic failure Chronic obstructive pulmonary disease Facial hirsutism ST segment depression Arteriosclerosis Childhood-onset truncal obesity Chronic fatigue Abnormality of the pituitary gland Increased circulating androgen level Exudative retinopathy Nonproductive cough Abnormal adipose tissue morphology Myocardial fibrosis Thoracic scoliosis Chronic active hepatitis Hypoplastic male external genitalia Urethral obstruction Hypoventilation Ovarian cyst Endocardial fibroelastosis Oligomenorrhea Menstrual irregularities Abnormal muscle tone Severe sensorineural hearing impairment Autoimmune thrombocytopenia Decreased HDL cholesterol concentration High-frequency hearing impairment Gingivitis Posterior subcapsular cataract Restrictive cardiomyopathy Albuminuria Broad foot Ketoacidosis Esophageal varix Squared iliac bones Impaired temperature sensation Sacral dimple Paralysis Coronary artery stenosis Tubulointerstitial abnormality Overriding aorta Aortic arch aneurysm Obsessive-compulsive trait Nocturia Synostosis of joints Abnormality of the bladder Renal artery stenosis Retinal arteriolar tortuosity Colonic diverticula Hyperacusis Pelvic kidney Food intolerance Infantile hypercalcemia Abnormality of the gastric mucosa Abnormal social behavior Flat cornea Impaired visuospatial constructive cognition Abnormality of the ankles Renal duplication Unilateral renal hypoplasia Cystic renal dysplasia Cerebral ischemia Abnormality of refraction Gait imbalance Periorbital fullness Decreased plasma carnitine Peripheral pulmonary artery stenosis Subvalvular aortic stenosis Lacrimation abnormality Peptic ulcer Abnormal endocardium morphology Periorbital edema Rectal prolapse Dysgraphia Phonophobia Parathyroid hyperplasia Abnormal glucose tolerance Increased nuchal translucency Retinal vascular tortuosity Thyroid hypoplasia Calcification of the aorta Myxomatous mitral valve degeneration Villous atrophy Edema of the lower limbs Hypotension Epistaxis Palpitations Abnormal lung morphology Scleroderma Hemoptysis Acrocyanosis Capillary hemangioma Abnormal thrombosis Atransferrinemia Abnormal tricuspid valve morphology Spontaneous, recurrent epistaxis Increased pulmonary vascular resistance Hemangiomatosis Pulmonary capillary hemangiomatosis Elevated right atrial pressure Arterial intimal fibrosis Pulmonary arterial medial hypertrophy Pulmonary aterial intimal fibrosis Edema Hypochromic anemia Paroxysmal bursts of laughter Dyssynergia Abnormality of the diencephalon Medial flaring of the eyebrow Elfin facies Bilateral vocal cord paralysis Thyroid hemiagenesis Nystagmus-induced head nodding Overfriendliness Early onset of sexual maturation Stellate iris Hypochromic microcytic anemia Functional abnormality of male internal genitalia Descending aorta hypoplasia Vocal cord dysfunction Atrophy/Degeneration involving the corticospinal tracts Severe hearing impairment Abnormal cardiac ventricular function Recurrent infections of the middle ear Recurrent infections Microcytic anemia Dyslexia Enuresis Joint stiffness Open mouth Hypotelorism Mitral valve prolapse Coarctation of aorta Hypsarrhythmia Renal hypoplasia Thick lower lip vermilion Myocardial infarction Hemiparesis Mitral regurgitation Dehydration Abnormal form of the vertebral bodies Nephrolithiasis Amblyopia Gingival overgrowth Aortic valve stenosis Narrow face Increased bone mineral density Pointed chin Abnormality of dental enamel Narrow forehead Microdontia Spina bifida occulta Nausea and vomiting Wide mouth Craniosynostosis Blepharophimosis Attention deficit hyperactivity disorder Stroke Broad forehead Corneal opacity Neurological speech impairment Genu valgum Esotropia Dysmetria Oral cleft Thick vermilion border Everted lower lip vermilion Postural instability Hypodontia Broad nasal tip Macroglossia Dental malocclusion Abnormality of the fingernails Abnormal dermatoglyphics Abnormality of the cerebral vasculature Soft skin Facial cleft Restlessness Insomnia Megalocornea Abnormality of lipid metabolism Posterior embryotoxon Arnold-Chiari type I malformation Nevus flammeus Abnormality of the vasculature Celiac disease Patellar dislocation Multiple renal cysts Down-sloping shoulders Vocal cord paralysis Blue irides Hypoplasia of the zygomatic bone Chronic constipation Large earlobe Abnormality of the neck High hypermetropia Premature graying of hair Progressive hearing impairment Abnormality of pelvic girdle bone morphology Widely spaced teeth Bicuspid aortic valve Hyperuricemia Ischemic stroke Infantile muscular hypotonia Schizophrenia Arnold-Chiari malformation Adducted thumb Incoordination Hallux valgus Dysphonia Hypercalciuria Hypercalcemia Failure to thrive in infancy Abnormality of the voice Abnormality of dental morphology Hypoplastic toenails Loss of consciousness Open bite Increased number of teeth Jaundice Bronchitis Laryngomalacia Renal dysplasia Large fontanelles Preauricular skin tag Situs inversus totalis Multicystic kidney dysplasia Abnormality of the outer ear Hypoplasia of the radius Preaxial polydactyly Abnormality of the ribs Bifid scrotum Preaxial hand polydactyly Dextrocardia Bundle branch block Right bundle branch block Hypoplastic left heart Non-midline cleft lip Omphalocele Ambiguous genitalia Transposition of the great arteries Diffuse hepatic steatosis Hyperhomocystinemia Decreased adenosylcobalamin Decreased methionine synthase activity Vitamin B12 deficiency Cystathioninuria Hypomethioninemia Decreased methylmalonyl-CoA mutase activity Cystathioninemia Premature birth Thyroglossal cyst Dysphagia Talipes equinovarus Syndactyly Polyhydramnios Hydronephrosis Pulmonary hypoplasia Intestinal malrotation Abnormality of the sternum Occipital encephalocele Urogenital fistula High palate Abnormality of the gallbladder Potter facies Perineal fistula Abnormal tracheobronchial morphology Asymmetric crying face Patent urachus Hypertelorism Frontal bossing Absence of the sacrum Abnormality of the skeletal system Ventriculomegaly Microphthalmia Headache Severe short stature Upslanted palpebral fissure Proptosis Hemifacial hypoplasia Anorectal anomaly Wheezing Rectovaginal fistula Anencephaly Esophageal atresia Aplasia/Hypoplasia of the lungs Missing ribs Single umbilical artery Tracheal stenosis Duodenal atresia Ureteropelvic junction obstruction Abnormality of the intervertebral disk Cavernous hemangioma Tethered cord Supernumerary ribs Abnormal sacrum morphology Abnormality of the nasopharynx Laryngeal stenosis Vertebral clefting Lower limb undergrowth Decreased methylcobalamin Delirium Leukemia Aortic aneurysm Arachnodactyly Recurrent fractures Overgrowth Bilateral sensorineural hearing impairment Abnormality of the face Wormian bones Shock Epiphyseal dysplasia Myelokathexis Delayed cranial suture closure Shawl scrotum Premature skin wrinkling Ileus Ascending tubular aorta aneurysm Dermal translucency Congenital hemolytic anemia Arrhythmia Bone marrow hypercellularity Bowel diverticulosis Combined immunodeficiency Immunodeficiency Decreased antibody level in blood Bronchiectasis Meningitis Recurrent bacterial infections Recurrent upper respiratory tract infections Leukocytosis Osteomyelitis Hypersegmentation of neutrophil nuclei Cellulitis IgG deficiency Periodontitis Verrucae Abnormality of bone marrow cell morphology Folliculitis Septic arthritis Tonsillitis Arterial fibromuscular dysplasia Renal diverticulum Abnormality of macular pigmentation Megaloblastic anemia Broad-based gait Slurred speech Hemiplegia Ectopia lentis Apathy Disproportionate tall stature Thromboembolism Methylmalonic aciduria Memory impairment Homocystinuria Myelopathy Gastritis Hemolytic-uremic syndrome Atrophy of the spinal cord Methylmalonic acidemia Chronic hemolytic anemia Psychosis Aciduria Muscle weakness Mental deterioration Low-set ears Intellectual disability, severe Dementia Gait ataxia Reduced visual acuity Acidosis Difficulty walking Lethargy Metabolic acidosis Congenital cataract Lower limb muscle weakness Confusion Unsteady gait Paresthesia Long face Joint hypermobility Hematuria Abnormality of the eye Dolichocephaly Glycosuria Gastrointestinal hemorrhage Nausea Hepatic failure Hirsutism Retinal dystrophy Abdominal distention Asthma Round face Growth hormone deficiency Lymphadenopathy Decreased testicular size Progressive visual loss Specific learning disability Hepatitis Optic disc pallor Epidermal acanthosis Hypertriglyceridemia Stage 5 chronic kidney disease Dry skin Thickened skin Elevated hepatic transaminase Rod-cone dystrophy Myoclonus Hyperhidrosis Hyperkeratosis Hepatosplenomegaly Photophobia Deeply set eye Conductive hearing impairment Infertility Myalgia Sparse hair Nyctalopia Generalized tonic-clonic seizures Hypotrichosis Hypermetropia Ophthalmoplegia Delayed puberty Left ventricular hypertrophy Chronic diarrhea Hyporeflexia Urinary urgency Constriction of peripheral visual field Impaired vibratory sensation Acne Hyperostosis Hyperglycemia Diabetes insipidus Pulmonary fibrosis Truncal obesity Polydipsia Abnormal retinal morphology Pericardial effusion Chorioretinal atrophy Polyphagia Short finger Agenesis of permanent teeth Glomerulopathy Aplasia/Hypoplasia of the cerebellum Lipodystrophy Decreased liver function Absence seizures Hepatic fibrosis Hyperpigmentation of the skin Gynecomastia Short toe Recurrent pneumonia Horizontal nystagmus Generalized hirsutism Accelerated skeletal maturation Elevated alkaline phosphatase Macular degeneration Acanthosis nigricans Hyperlipidemia Pancreatitis Hypercholesterolemia Cone/cone-rod dystrophy Goiter Abnormality of the hand Alopecia Visual loss Toe syndactyly Hearing abnormality Absent thumb Myeloid leukemia Multiple cafe-au-lait spots Acute myeloid leukemia Abnormality of blood and blood-forming tissues Irregular hyperpigmentation External ear malformation Chromosome breakage Hypoplasia of the ulna Abnormal eyelid morphology Abnormality of the ulna Arteriovenous malformation Abnormality of the upper limb Aplastic anemia Abnormality of the uterus Abnormality of the testis Squamous cell carcinoma Myelodysplasia Bicornuate uterus Cafe-au-lait spot Abnormality of the foot Astigmatism Bruising susceptibility Hypopigmentation of the skin Sloping forehead Short palpebral fissure Aganglionic megacolon Bone marrow hypocellularity Abnormality of the urinary system Horseshoe kidney Type I diabetes mellitus Leukopenia Azoospermia Cranial nerve paralysis Renal hypoplasia/aplasia Hypopigmented skin patches Abnormality of vision Abnormality of the thumb Abnormality of femur morphology Clinodactyly Motor delay Anemic pallor Deficient excision of UV-induced pyrimidine dimers in DNA Neoplasm of head and neck Aplasia/Hypoplasia of the uvula Aplasia/Hypoplasia of fingers Pyridoxine-responsive sideroblastic anemia Abnormality of the preputium Peripheral neuropathy Almond-shaped palpebral fissure Optic atrophy Short neck Blindness Vomiting Dystonia Splenomegaly Encephalopathy Prolonged G2 phase of cell cycle Compensated hypothyroidism Acute monocytic leukemia Duodenal stenosis Abnormality of the hypothalamus-pituitary axis Abnormal aortic valve morphology Abnormal localization of kidney Abnormality of chromosome stability Reticulocytopenia Abnormal aortic morphology Primary hypothyroidism Duplicated collecting system Absent testis Meckel diverticulum Low-grade fever Complete duplication of thumb phalanx Partial duplication of thumb phalanx Clubbing of toes Decreased fertility in males Chromosomal breakage induced by crosslinking agents Hypoplastic anemia Pulmonary artery vasoconstriction



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Myeloid leukemia, related diseases and genetic alterations Motor delay and Otitis media, related diseases and genetic alterations

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