Cardiomyopathy, and Gastrointestinal hemorrhage

Diseases related with Cardiomyopathy and Gastrointestinal hemorrhage

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Gastrointestinal hemorrhage that can help you solving undiagnosed cases.


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Low match TYROSINEMIA TYPE 1


Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.

TYROSINEMIA TYPE 1 Is also known as hepatorenal tyrosinemia|fumarylacetoacetase deficiency|fah deficiency|fumarylacetoacetate hydrolase deficiency|tyrosinemia type i

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about TYROSINEMIA TYPE 1

Low match CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME


Hypermanganesemia with dystonia-1 is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved (summary by Tuschl et al., 2012 and Quadri et al., 2012). Genetic Heterogeneity of Hypermanganesemia With DystoniaSee also HMNDYT2 (OMIM ), caused by mutation in the SLC39A14 gene (OMIM ) on chromosome 8p21.

CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME Is also known as hmdpc|hypermanganesemia with dystonia, polycythemia, and cirrhosis

Related symptoms:

  • Microcephaly
  • Ataxia
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME

Low match WOLFRAM SYNDROME


Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).

WOLFRAM SYNDROME Is also known as didmoad syndrome|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about WOLFRAM SYNDROME

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Low match HERMANSKY-PUDLAK SYNDROME 1; HPS1


Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). Genetic Heterogeneity of Hermansky-Pudlak SyndromeHPS2 (OMIM ) is caused by mutation in the AP3B1 gene (OMIM ) on chromosome 5q14. HPS3 (OMIM ) is caused by mutation in the HSP3 gene (OMIM ) on chromosome 3q24. HPS4 (OMIM ) is caused by mutation in the HSP4 gene (OMIM ) on chromosome 22q12. HPS5 (OMIM ) is caused by mutation in the HPS5 gene (OMIM ) on chromosome 11p14. HPS6 (OMIM ) is caused by mutation in the HPS6 gene (OMIM ) on chromosome 10q24. HPS7 (OMIM ) is caused by mutation in the DTNBP1 gene (OMIM ) on chromosome 6p22. HPS8 (OMIM ) is caused by mutation in the BLOC1S3 gene (OMIM ) on chromosome 19q13. HPS9 (OMIM ) is caused by mutation in the PLDN gene (OMIM ) on chromosome 15q21. HPS10 (OMIM ) is caused by mutation in the AP3D1 gene (OMIM ) on chromosome 19p13.

HERMANSKY-PUDLAK SYNDROME 1; HPS1 Is also known as delta storage pool disease|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 1; HPS1

Low match PSEUDOXANTHOMA ELASTICUM


Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

Low match GRANULOMATOSIS WITH POLYANGIITIS


Granulomatosis with polyangiitis is a small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.

GRANULOMATOSIS WITH POLYANGIITIS Is also known as wegener granulomatosis, formerly|gpa|wg, formerly

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GRANULOMATOSIS WITH POLYANGIITIS

Low match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Low match CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Low 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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Gastrointestinal hemorrhage

Symptoms // Phenotype % cases
Visual impairment Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Gastrointestinal hemorrhage. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dilatation Seizures Visual loss Scoliosis Pulmonary fibrosis Weight loss Blindness Intellectual disability Malabsorption Hepatomegaly Pain Splenomegaly Nystagmus Severe vision loss Nephropathy Dysarthria Retinopathy Pneumonia Growth delay Short stature Cognitive impairment Postural instability Portal hypertension Constipation Sensorineural hearing impairment Dyspnea Behavioral abnormality Abdominal pain Anemia Fatigue Myopia Skin rash Strabismus Diabetes insipidus Failure to thrive Ataxia Neoplasm Nephrocalcinosis Jaundice Paralysis Renovascular hypertension Hypertrophic cardiomyopathy Elevated hepatic transaminase Abnormality of the liver Atherosclerosis Cirrhosis Diarrhea

Rare Symptoms - Less than 30% cases


Photophobia Pulmonic stenosis Bruising susceptibility Neutropenia Venous thrombosis Hypopigmentation of the skin Hyperkeratosis Pancreatitis Recurrent infections Immunodeficiency Leukemia Sinusitis Epidermal acanthosis Arteriosclerosis Macular degeneration Cataract Proteinuria Delayed puberty Recurrent respiratory infections Hearing impairment Sleep disturbance Myalgia Recurrent urinary tract infections Cough Epistaxis Paresthesia Specific learning disability Lymphoma Polydipsia Otitis media Male hypogonadism Headache Autistic behavior Thickened skin Elevated C-reactive protein level Chronic obstructive pulmonary disease Chorioretinal atrophy Hypothyroidism Scarring Abnormal retinal morphology Myocarditis Acne Stroke Congestive heart failure Papule Pruritus Joint hyperflexibility Abnormality of skin pigmentation Abnormality of the cardiovascular system Mitral valve prolapse Blue sclerae Myocardial infarction Ophthalmoplegia Tracheal stenosis Subcutaneous nodule Restrictive ventilatory defect Anorexia Kyphoscoliosis Autism Acanthosis nigricans Depressivity Chronic otitis media Basal cell carcinoma Freckling Gangrene Abnormality of the skeletal system Restrictive cardiomyopathy Delayed speech and language development Angina pectoris Glomerulopathy Hematochezia Abnormal thrombocyte morphology Pericarditis Abnormality of cardiovascular system morphology Respiratory distress Glaucoma Sensorimotor neuropathy Hepatic failure Poor fine motor coordination Overweight Esophageal varix Ascites Myocardial fibrosis Abnormal bleeding Short neck Abnormality of coagulation Decreased liver function Tibial bowing Sparse hair Accelerated skeletal maturation Acute hepatic failure Hypotrichosis Hepatic steatosis Abnormality of retinal pigmentation Epigastric pain Encephalopathy Dystonia Hepatic encephalopathy Hepatic necrosis Optic atrophy Alopecia Hepatosplenomegaly Diabetes mellitus Aganglionic megacolon Vomiting Hypoglycemia Hypogonadism Carcinoma Precocious puberty Hypertonia Irritability Villous atrophy Micromelia Narrow chest Blepharitis Dilated cardiomyopathy Nyctalopia Arthrogryposis multiplex congenita Pustule Erythroderma Gastroesophageal reflux Eosinophilia Erythema Joint hypermobility Pulmonary lymphoma Pectus carinatum Flaring of lower rib cage Short palm Small hand Decreased antibody level in blood Absent pubertal growth spurt Convex nasal ridge Abnormality of the ribs Lumbar hyperlordosis Fine hair Susceptibility to chickenpox Recurrent infection of the gastrointestinal tract Thick nail Clinodactyly Pes planus Respiratory failure Deeply set eye Polydactyly Conductive hearing impairment Hyperhidrosis Myoclonus Abnormality of the kidney Rod-cone dystrophy Hyporeflexia Patent ductus arteriosus EEG abnormality Obesity Abnormal cardiac septum morphology Joint laxity Kyphosis Postnatal growth retardation Abnormality of humoral immunity Motor delay Low-set, posteriorly rotated ears Feeding difficulties Global developmental delay Respiratory tract infection Pallor Hyperlordosis Otitis externa Paronychia Abnormality of the dentition Rhizomelia Biconvex vertebral bodies Mesomelia Macrocytic anemia Metaphyseal dysplasia High hypermetropia Abnormality of the hip bone Limited elbow extension Femoral bowing Short thorax Anal stenosis Diaphyseal thickening Squamous cell carcinoma Cone-shaped epiphysis Metaphyseal widening Abnormal diaphysis morphology Genu varum Hodgkin lymphoma Hypoplasia of the odontoid process Disproportionate short-limb short stature Fair hair Aplasia/Hypoplasia affecting the eye Metaphyseal chondrodysplasia Abnormality of the pancreas Aplastic anemia B-cell lymphoma Generalized joint laxity Heart block Esophageal atresia Upper limb undergrowth Cellular immunodeficiency Thrombocytosis Metaphyseal cupping Bronchiolitis Exocrine pancreatic insufficiency Distal arthrogryposis Abnormality of pelvic girdle bone morphology Mucopolysacchariduria Severe T-cell immunodeficiency Aplasia/Hypoplasia of the abdominal wall musculature Sparse and thin eyebrow Gingival overgrowth Long fibula Non-Hodgkin lymphoma Metaphyseal dysostosis Impaired lymphocyte transformation with phytohemagglutinin Abnormality of epiphysis morphology Abnormality of the distal phalanx of finger Bronchiectasis Bowing of the long bones Sparse facial hair Abnormal form of the vertebral bodies Abnormality of the metaphysis Depressed nasal ridge Narrow vertebral interpedicular distance Abnormal T cell morphology Normocytic anemia Neoplasm of the skin Hypersplenism Sacral dimple Reduced tendon reflexes Large face Spinal dysraphism Abnormal palate morphology Congenital hypoplastic anemia Hypoplastic anemia Sparse eyelashes Hypocalcemia Neonatal short-limb short stature Short ribs Abnormal bone ossification Abnormally ossified vertebrae Lymphopenia Abnormality of chromosome stability Cholelithiasis Generalized tonic-clonic seizures Urethral stenosis Testicular atrophy Tubulointerstitial fibrosis Urinary retention Pyelonephritis Chills Acute pancreatitis Achromatopsia Abnormality of female external genitalia Abnormal renal physiology Multinodular goiter Bull's eye maculopathy Vertical nystagmus Increased total bilirubin Frontal balding Hematemesis Melena First degree atrioventricular block Abnormal left ventricle morphology Disinhibition Decreased glomerular filtration rate Recurrent bronchitis Broad foot Ketoacidosis Gingivitis Pendular nystagmus Tubulointerstitial nephritis Attenuation of retinal blood vessels Right ventricular hypertrophy Elevated serum creatinine Tubular atrophy Retinal pigment epithelial atrophy Oligospermia Chronic fatigue High-frequency hearing impairment Ovarian cyst Decreased HDL cholesterol concentration Menstrual irregularities Abnormal renal morphology Endocardial fibroelastosis Abnormality of the optic disc Abnormal spermatogenesis Oligomenorrhea Glue ear Abnormal adipose tissue morphology Chronic active hepatitis Hyperostosis frontalis interna Receptive language delay Granular macular appearance Thickened ears Dilatation of the bladder Unilateral breast hypoplasia Recurrent cystitis Exudative retinopathy Widely-spaced incisors Abnormal retinal artery morphology Precocious puberty in females EEG with occipital slowing Abnormality of prothrombin Abnormality of renal calyx morphology Localized hirsutism Vitreous haze Nonproductive cough Increased circulating androgen level Chronic infection Albuminuria Abnormality of the urethra Lumbar scoliosis Abnormality of dental color Abnormal chorioretinal morphology Urethral stricture Impaired temperature sensation Female hypogonadism Abnormal muscle tone Squared iliac bones High-frequency sensorineural hearing impairment Urethral obstruction Abnormality of the pituitary gland Hypoplastic male external genitalia Chronic hepatic failure Facial hirsutism ST segment depression Multifocal atrial tachycardia Childhood-onset truncal obesity Posterior subcapsular cataract Poor coordination Hypermetropia Insulin resistance Cardiomegaly Type II diabetes mellitus Pulmonary arterial hypertension Hypertriglyceridemia Recurrent otitis media Involuntary movements Left ventricular hypertrophy Chronic diarrhea Hepatic fibrosis Hepatitis Hyperpigmentation of the skin Gynecomastia Short toe Hypergonadotropic hypogonadism Recurrent pneumonia Horizontal nystagmus Increased body weight Generalized hirsutism Optic disc pallor Pigmentary retinopathy Absence seizures Hirsutism Carious teeth Infertility Dry skin Retinal degeneration Lymphadenopathy Stage 5 chronic kidney disease Nausea Tachycardia Retinal dystrophy Cyanosis Abdominal distention Asthma Vesicoureteral reflux Urinary incontinence Round face Growth hormone deficiency Decreased testicular size Progressive visual loss Hypogonadotrophic hypogonadism Hyperlipidemia Hyperventilation Increased number of teeth Pericardial effusion Polyphagia Short finger Agenesis of permanent teeth Progressive sensorineural hearing impairment Glycosuria Bronchitis Hyperuricemia Subcapsular cataract Urinary urgency Thoracic scoliosis Autoimmune thrombocytopenia Severe sensorineural hearing impairment Hypoventilation Insulin-resistant diabetes mellitus Retinal atrophy Peripheral visual field loss Alopecia of scalp Truncal obesity Hydroureter Hypercholesterolemia Lipodystrophy Tachypnea Cone/cone-rod dystrophy Goiter Polycystic ovaries Abnormality of the hand Macrotia Elevated alkaline phosphatase Hyperinsulinemia Nephritis Emphysema Obsessive-compulsive behavior Aplasia/Hypoplasia of the cerebellum Constriction of peripheral visual field Impaired vibratory sensation Hyperostosis Hyperglycemia Glucose intolerance Polyuria Skeletal dysplasia Overgrowth Brachycephaly Impaired platelet aggregation Iris hypopigmentation Gingival bleeding Abnormality of visual evoked potentials Ocular albinism Abnormality of the optic nerve Ulcerative colitis Squamous cell carcinoma of the skin Colitis Partial albinism Menometrorrhagia Freckles in sun-exposed areas High palate Intrauterine growth retardation Edema Reduced visual acuity Hypopigmentation of hair Prolonged bleeding time Sudden cardiac death Nevus Abnormal autonomic nervous system physiology Abnormality of the urinary system Dysuria Central apnea Gastric ulcer Abnormality of mesentery morphology Astigmatism Abnormal lung morphology Albinism Long eyelashes Amblyopia Abnormality of the hair Abnormality of dental enamel Melanoma Melanocytic nevus Inflammation of the large intestine Small for gestational age Abnormality of the skin Joint stiffness Arterial stenosis Abnormality of the cerebral vasculature Peripheral arterial stenosis Lack of skin elasticity Redundant neck skin Abnormal mitral valve morphology Pulmonary edema Excessive wrinkled skin Drusen Pulmonary insufficiency Ectopic calcification Choroidal neovascularization Abnormal endocardium morphology Retinal hemorrhage Intermittent claudication Angioid streaks of the fundus Mitral stenosis Thickened nuchal skin fold Cerebral calcification Tricuspid regurgitation Mitral regurgitation Cutis laxa Ischemic stroke Hyperextensible skin Redundant skin Intracranial hemorrhage Abnormality of the thorax Hemiplegia/hemiparesis Abnormality of the mouth Cutis marmorata Coronary artery atherosclerosis Hypermelanotic macule Multiple lipomas Telangiectasia of the skin Striae distensae Severe intrauterine growth retardation Hallucinations Feeding difficulties in infancy Abnormality of connective tissue Tremor Hypermethioninemia Elevated urinary delta-aminolevulinic acid Paralytic ileus Rickets of the lower limbs Episodic peripheral neuropathy Microcephaly Gait disturbance Renal Fanconi syndrome Difficulty walking Rigidity Abnormality of movement Lower limb muscle weakness Dysmetria Neurodegeneration Polyneuropathy Elevated alpha-fetoprotein Hypertyrosinemia Gliosis Enlarged kidney Muscle weakness Aciduria Peripheral demyelination Glomerulosclerosis Rickets Axonal degeneration Hepatocellular carcinoma Self-mutilation Pancreatic islet-cell hyperplasia Renal tubular dysfunction Neoplasm of the liver Hypophosphatemic rickets Ileus Periodic paralysis Generalized aminoaciduria Abnormality of the abdominal wall Parkinsonism Neuronal loss in central nervous system Developmental regression Pica Micronodular cirrhosis Unconjugated hyperbilirubinemia Vitamin E deficiency Abnormal globus pallidus morphology Abnormal basal ganglia MRI signal intensity Abnormality of amino acid metabolism Decreased serum ferritin Abnormal myelination Increased total iron binding capacity Copper accumulation in liver Abnormal transferrin saturation Abnormality of divalent inorganic cation homeostasis Myopathy Dementia Cerebral cortical atrophy Hyperglycinemia Prolonged prothrombin time Bradykinesia Toe walking Abnormality of extrapyramidal motor function Truncal ataxia Paraparesis Hyperbilirubinemia Spastic paraparesis Dysdiadochokinesis Emotional lability Steppage gait Astrocytosis Axonal loss Polycythemia Limb dystonia Generalized dystonia Action tremor Hypomimic face Echolalia Metamorphopsia Civatte bodies Prominent forehead Astrocytoma Osteomalacia Renal cell carcinoma Increased reactive oxygen species production Meningioma Neoplasm of the endocrine system Brain neoplasm Aqueductal stenosis Neurofibromas Parathyroid adenoma Pheochromocytoma Complete atrioventricular canal defect Anomalous pulmonary venous return Night sweats Paraganglioma Carcinoid tumor Multiple cafe-au-lait spots Hypophosphatemia Nasolacrimal duct obstruction Cafe-au-lait spot Genu valgum Facial asymmetry Peripheral axonal neuropathy Recurrent fractures Tetralogy of Fallot Coarctation of aorta Hypsarrhythmia Bone pain Sensory axonal neuropathy Spina bifida Reduced bone mineral density Breast carcinoma Incoordination Sarcoma Back pain Clitoral hypertrophy Rhabdomyosarcoma Glioma Osteopenia Brow ptosis Plexiform neurofibroma Inguinal freckling Spinal neurofibromas Arterial fibromuscular dysplasia Cerebral artery stenosis Tibial pseudoarthrosis Muscular hypotonia Subcutaneous neurofibromas Depressed nasal bridge Epicanthus Wide nasal bridge Anteverted nares Thrombocytopenia Delayed skeletal maturation Severe short stature Acute promyelocytic leukemia Optic nerve glioma Schwannoma Dural ectasia Renal phosphate wasting Chronic myelogenous leukemia Lisch nodules Neoplasm of the central nervous system Gastrointestinal stroma tumor Fibular bowing Leiomyosarcoma Soft tissue sarcoma Neurofibrosarcoma Pseudoarthrosis Single ventricle Renal artery stenosis Axillary freckling Embryonal rhabdomyosarcoma Vestibular Schwannoma Neuroma Attention deficit hyperactivity disorder Hyperactivity Accelerated atherosclerosis Diplopia Arthritis Autoimmunity Nausea and vomiting Hematuria Sensory neuropathy Chest pain Skin ulcer Arthralgia Hoarse voice Meningitis Vasculitis Conjunctivitis Purpura Cranial nerve paralysis Hemiplegia Hydronephrosis Proptosis Pleural effusion Peripapillary chorioretinal atrophy Vascular calcification Subcutaneous calcification Arterial calcification Hyperkeratotic papule Localized skin lesion Generalized arterial calcification Medial calcification of large arteries Peau d'orange Arrhythmia Subretinal fluid Erythematous papule Premature occlusive vascular stenosis Medial calcification of medium-sized arteries Abnormal atrioventricular valve morphology Medial calcification of small arteries Fever Glomerulonephritis Stridor Osteoporosis Recurrent intrapulmonary hemorrhage Endocarditis Ureteral stenosis Abnormal oral cavity morphology Episcleritis Arteritis Increased inflammatory response Scleritis Prostatitis Granulomatosis Hypertelorism Abnormal facial shape Ptosis Macrocephaly Hydrocephalus Intellectual disability, mild Abnormal heart morphology Neuritis Pleuritis Intestinal obstruction Cerebral ischemia Petechiae Elevated erythrocyte sedimentation rate Wheezing Hemoptysis Pulmonary infiltrates Myositis Concave nasal ridge Abnormality of the nose Subglottic stenosis Abnormality of the hypothalamus-pituitary axis Recurrent corneal erosions Nasal obstruction Inflammatory abnormality of the eye Periorbital edema Rhinorrhea Ocular pain Abnormality of the femoral head



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