Autoimmunity, and Vesicoureteral reflux

Diseases related with Autoimmunity and Vesicoureteral reflux

In the following list you will find some of the most common rare diseases related to Autoimmunity and Vesicoureteral reflux that can help you solving undiagnosed cases.


Top matches:

Medium match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Medium match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

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

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Other less relevant matches:

Low match VESICOURETERAL REFLUX 8; VUR8


Related symptoms:

  • Joint hypermobility
  • Vesicoureteral reflux
  • Recurrent urinary tract infections
  • Duplicated collecting system


SOURCES: OMIM MENDELIAN

More info about VESICOURETERAL REFLUX 8; VUR8

Low match UROFACIAL SYNDROME 2; UFS2


Urofacial syndrome (UFS; Ochoa syndrome) is an autosomal recessive disorder characterized by congenital urinary bladder dysfunction associated with an abnormal facial expression upon smiling, laughing, and crying. Affected individuals have an overactive detrusor muscle that fails to fully expel urine because of concomitant internal sphincter contraction, and patients may experience lifelong urinary incontinence, recurrent urosepsis, vesicoureteral reflux, and renal failure. In addition, some patients have severe constipation, indicating a generalized elimination defect (summary by Stuart et al., 2013).For a discussion of genetic heterogeneity of UFS, see UFS1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Renal insufficiency
  • Constipation
  • Hydronephrosis
  • Vesicoureteral reflux


SOURCES: ORPHANET OMIM MENDELIAN

More info about UROFACIAL SYNDROME 2; UFS2

Low match OCHOA SYNDROME


Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.

OCHOA SYNDROME Is also known as partial facial palsy with urinary abnormalities|inverted smile-neurogenic bladder syndrome|urofacial syndrome|hydronephrosis-inverted smile syndrome

Related symptoms:

  • Cryptorchidism
  • Hypertension
  • Renal insufficiency
  • Constipation
  • Hydronephrosis


SOURCES: ORPHANET MENDELIAN

More info about OCHOA SYNDROME

Low match BLADDER EXSTROPHY


Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.

BLADDER EXSTROPHY Is also known as classic exstrophy of the bladder

Related symptoms:

  • Inguinal hernia
  • Umbilical hernia
  • Vesicoureteral reflux
  • Intestinal malrotation
  • Hypoplasia of penis


SOURCES: ORPHANET MENDELIAN

More info about BLADDER EXSTROPHY

Low match CONGENITAL HYDRONEPHROSIS


Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy.

CONGENITAL HYDRONEPHROSIS Is also known as pujo|upjo|pelviureteric junction obstruction|multicystic renal dysplasia, bilateral|hydronephrosis due to pujo|mcrd|ureteropelvic junction obstruction

Related symptoms:

  • Pain
  • Renal insufficiency
  • Polyhydramnios
  • Hydronephrosis
  • Abnormality of the kidney


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL HYDRONEPHROSIS

Low match SCLEROSING CHOLANGITIS, NEONATAL; NSC


Neonatal sclerosing cholangitis is a rare autosomal recessive form of severe liver disease with onset in infancy. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis; most require liver transplantation in the first few decades of life. Cholangiography shows patent biliary ducts, but there are bile duct irregularities (summary by Girard et al., 2016; Grammatikopoulos et al., 2016).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertension
  • Hepatomegaly
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about SCLEROSING CHOLANGITIS, NEONATAL; NSC

Low match EXSTROPHY OF BLADDER


Bladder exstrophy and epispadias complex (BEEC) is an anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia (Gearhart and Jeffs, 1998). BEEC is one of the most severe urologic birth defects because of its profound impact on continence, sexual function, and morbidity due to the effect of chronic and recurrent infections on renal function. The term 'exstrophy,' derived from the Greek work ekstriphein, which literally means 'turn inside out,' was first used by Chaussier in 1780.Martinez-Frias et al. (2001) emphasized that exstrophy of the cloaca and exstrophy of the bladder are 2 different expressions of a primary developmental field defect. Cloacal exstrophy is a feature of the OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex (OMIM ). Exstrophy of the cloaca includes the persistence and exstrophy of a common cloaca that receives ureters, ileum, and a rudimentary hindgut and is associated with failure of fusion of the genital tubercles and pubic rami, incomplete development of the lumbosacral vertebrae with spinal dysraphism, imperforate anus, cryptorchidism and epispadias in males and anomalies of the mullerian duct derivatives in females, and a wide range of urinary tract anomalies. Omphalocele is common, and most patients have a single umbilical artery.

Related symptoms:

  • Cryptorchidism
  • Recurrent infections
  • Inguinal hernia
  • Umbilical hernia
  • Anal atresia


SOURCES: OMIM ORPHANET MENDELIAN

More info about EXSTROPHY OF BLADDER

Top 5 symptoms//phenotypes associated to Autoimmunity and Vesicoureteral reflux

Symptoms // Phenotype % cases
Recurrent urinary tract infections Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Constipation Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Bowel incontinence Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Vesicoureteral reflux. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Umbilical hernia Inguinal hernia Renal insufficiency Intellectual disability Depressivity Specific learning disability Seizures Cryptorchidism Obesity Hypertension Patent ductus arteriosus Hypothyroidism Splenomegaly Conductive hearing impairment Intestinal malrotation Behavioral abnormality Anal atresia Urinary incontinence Cataract Short stature Cholelithiasis Short neck Hydroureter Scoliosis Acne Hydronephrosis

Rare Symptoms - Less than 30% cases


Polyhydramnios Autism Obsessive-compulsive behavior Unilateral renal agenesis Autoimmune thrombocytopenia Abnormality of the dentition Bipolar affective disorder Posterior embryotoxon Platybasia Hypoparathyroidism Meningocele Optic atrophy Truncus arteriosus Seborrheic dermatitis Strabismus Failure to thrive Gastroesophageal reflux Impaired T cell function Pain Myalgia Decreased liver function Abnormality of the urinary system Abnormality of the clitoris Abnormality of the anus Bladder exstrophy Epispadias Omphalocele Hypoplasia of penis Urethral obstruction Urinary urgency Polydipsia Portal hypertension Nephropathy Carious teeth Cirrhosis Stage 5 chronic kidney disease Abnormality of the liver Elevated hepatic transaminase Jaundice Hepatomegaly Abnormality of the hand Chronic obstructive pulmonary disease Chronic otitis media Renal hypoplasia Gastrointestinal hemorrhage Asthma Nasal speech Abnormality of the kidney Schizophrenia Recurrent infections Spina bifida Cognitive impairment Anxiety Renal dysplasia Pulmonic stenosis Delayed speech and language development Abnormality of cardiovascular system morphology Arthritis Hydrocephalus Microcephaly Abnormal facial shape Muscular hypotonia Cleft palate Hypocalcemia Immunodeficiency Thrombocytopenia Renal agenesis Ventricular septal defect Atrial septal defect Multicystic kidney dysplasia Purpura Hypospadias Bulbous nose Tetralogy of Fallot Severe sensorineural hearing impairment Alopecia of scalp Poor coordination Progressive sensorineural hearing impairment Glomerulopathy Glycosuria Bronchitis Hyperventilation Thoracic scoliosis Hypoventilation Increased number of teeth Hyperuricemia Retinal atrophy Pericarditis Insulin-resistant diabetes mellitus Subcapsular cataract Peripheral visual field loss Ketoacidosis Oligomenorrhea Male hypogonadism Retinal pigment epithelial atrophy Endocardial fibroelastosis Abnormal renal morphology Menstrual irregularities Decreased HDL cholesterol concentration Ovarian cyst High-frequency hearing impairment Restrictive cardiomyopathy Esophageal varix Chronic fatigue Myocardial fibrosis Oligospermia Posterior subcapsular cataract Myocarditis Tubular atrophy Recurrent bronchitis Acute hepatic failure Elevated serum creatinine Right ventricular hypertrophy Attenuation of retinal blood vessels Tubulointerstitial nephritis Pendular nystagmus Gingivitis Short finger Broad foot Agenesis of permanent teeth Emphysema Polyphagia Recurrent pneumonia Atherosclerosis Acanthosis nigricans Macular degeneration Accelerated skeletal maturation Absence seizures Nephrocalcinosis Hypogonadotrophic hypogonadism Generalized hirsutism Increased body weight Horizontal nystagmus Hypergonadotropic hypogonadism Pancreatitis Short toe Gynecomastia Sinusitis Hyperpigmentation of the skin Hepatic fibrosis Insulin resistance Abnormality of retinal pigmentation Anorexia Chronic diarrhea Thickened skin Left ventricular hypertrophy Hyperlipidemia Hypercholesterolemia Chorioretinal atrophy Hyperostosis Pericardial effusion Abnormal retinal morphology Truncal obesity Fever Pulmonary fibrosis Abnormal renal physiology Polyuria Glucose intolerance Diabetes insipidus Hyperglycemia Impaired vibratory sensation Tachypnea Constriction of peripheral visual field Aplasia/Hypoplasia of the cerebellum Nephritis Hypoplasia of the corpus callosum Lipodystrophy Hyperinsulinemia Precocious puberty Elevated alkaline phosphatase Polycystic ovaries Goiter Cone/cone-rod dystrophy Disinhibition Acute pancreatitis Abnormal left ventricle morphology Duplicated collecting system Oligohydramnios Abnormality of the cardiovascular system Hematuria Abnormality of the ureter Anemia Abnormal facial expression Enuresis Nephroblastoma High palate Neoplasm Joint hypermobility Generalized hypotonia Abnormality of the femoral head Vitreous haze Localized hirsutism Abnormality of renal calyx morphology Abnormality of prothrombin EEG with occipital slowing Precocious puberty in females Abnormal retinal artery morphology Widely-spaced incisors Recurrent cystitis Glue ear Nephrotic syndrome Sarcoma Dilatation of the bladder Cholangitis Cloacal exstrophy Exstrophy Macrothrombocytopenia Spinal dysraphism Single umbilical artery Anteriorly placed anus Abnormality of pelvic girdle bone morphology Horseshoe kidney Acholic stools Sclerosing cholangitis Ureteral duplication Biliary cirrhosis Cerebral hemorrhage Shock Cholestasis Pruritus Renal sarcoma Congenital megaureter Bilateral renal dysplasia Flank pain Ureterocele Renal duplication Ureteropelvic junction obstruction Cystic renal dysplasia Unilateral breast hypoplasia Thickened ears Testicular atrophy Multinodular goiter Chronic infection Abnormal spermatogenesis Decreased glomerular filtration rate Abnormality of the optic disc First degree atrioventricular block Melena Hematemesis Frontal balding Increased total bilirubin Vertical nystagmus Bull's eye maculopathy Abnormality of female external genitalia Lumbar scoliosis Hepatic encephalopathy Urethral stenosis Achromatopsia Involuntary movements Chills Pyelonephritis Poor fine motor coordination Urinary retention Arteriosclerosis Elevated C-reactive protein level Tubulointerstitial fibrosis Abnormality of the urethra Abnormality of dental color Granular macular appearance Facial hirsutism Receptive language delay Hyperostosis frontalis interna Chronic active hepatitis Abnormal adipose tissue morphology Nonproductive cough Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Childhood-onset truncal obesity Multifocal atrial tachycardia ST segment depression Chronic hepatic failure Epigastric pain Hepatic necrosis Hypoplastic male external genitalia Abnormality of the pituitary gland Squared iliac bones Renovascular hypertension Albuminuria Abnormal muscle tone Female hypogonadism Impaired temperature sensation Urethral stricture Abnormal chorioretinal morphology Intellectual disability, severe Cyanosis Recurrent otitis media Long philtrum Feeding difficulties in infancy Telecanthus Congenital cataract Dysmetria Narrow mouth Glaucoma Upslanted palpebral fissure Hemolytic anemia Microphthalmia Malar flattening Bifid uvula Short philtrum Intellectual disability, mild Chorea Talipes equinovarus Downslanted palpebral fissures Underdeveloped nasal alae Intrauterine growth retardation Wide nasal bridge Epicanthus Low-set ears Ptosis Amenorrhea Attention deficit hyperactivity disorder Prominent nasal bridge Peripheral demyelination Hand polydactyly Abnormal eyelid morphology Abnormality of the skull Multiple renal cysts Patellar dislocation Turricephaly Abnormal lung lobation Foot polydactyly Hyperthyroidism Dysphasia Overfolded helix Abnormality of the thorax Polycystic kidney dysplasia Joint hyperflexibility Laryngomalacia Hypopigmented skin patches Abnormality of dental enamel Aganglionic megacolon Choanal atresia Aggressive behavior Mental deterioration Abnormality of the pinna Blepharophimosis Long face Arachnodactyly Micrognathia Hypertelorism Atelectasis Autoimmune hemolytic anemia Myelomeningocele Primary amenorrhea Pierre-Robin sequence Delusions Open mouth Hearing abnormality Vitiligo Hallucinations Anal stenosis Submucous cleft hard palate Axonal loss Basal ganglia calcification Abnormality of the endocrine system Abnormality of the ear Myopathic facies Inflammation of the large intestine Hypoplasia of the brainstem Narrow palpebral fissure Apathy Psoriasiform dermatitis Rheumatoid arthritis Dysdiadochokinesis Holoprosencephaly Bicuspid aortic valve Echolalia Pulmonary artery atresia Unilateral primary pulmonary dysgenesis Velopharyngeal insufficiency Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Arteria lusoria Aplasia of the thymus Psychotic episodes Conotruncal defect Giant platelets Juvenile rheumatoid arthritis Retinal vascular tortuosity Paranoia Duodenal stenosis Right aortic arch Mood swings Psychosis Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Low posterior hairline Varicose veins Retrognathia Hypertriglyceridemia Autistic behavior Ophthalmoplegia Hypermetropia Hypotrichosis Generalized tonic-clonic seizures Dilated cardiomyopathy Cough Nyctalopia Retinopathy Scarring Sparse hair Absent speech Pallor Infertility Respiratory tract infection Postnatal growth retardation Irritability Proteinuria Hernia Deeply set eye Photophobia Hepatosplenomegaly Pes planus Kyphoscoliosis Dyspnea Delayed puberty Dry skin Hyperkeratosis Growth hormone deficiency Pulmonary arterial hypertension Epidermal acanthosis Type II diabetes mellitus Cardiomegaly Optic disc pallor Hepatitis Pigmentary retinopathy Arnold-Chiari malformation Progressive visual loss Decreased testicular size Otitis media Round face Retinal degeneration Cerebellar atrophy Abdominal distention Ascites Sleep disturbance Hepatic steatosis Retinal dystrophy Hirsutism Hepatic failure Tachycardia Nausea Lymphadenopathy Weight loss Respiratory failure Abnormality of the uterus Abnormal aortic arch morphology Visual impairment Feeding difficulties Hyperactivity Sensorineural hearing impairment Nystagmus Growth delay Ataxia Occipital myelomeningocele Abnormality of the tonsils Tricuspid atresia Multiple suture craniosynostosis Hypertensive crisis Posteriorly rotated ears Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Arrhinencephaly Small earlobe Abnormality of the pharynx Abnormal aortic valve morphology Abnormal thrombocyte morphology Hypoplasia of the thymus Tetany Corneal neovascularization Motor delay Peripheral neuropathy Polydactyly Clinodactyly Abdominal pain Diabetes mellitus Hypogonadism Hyperhidrosis Myoclonus Rod-cone dystrophy Recurrent respiratory infections Pneumonia Alopecia Hyporeflexia Visual loss Encephalopathy Dementia Dilatation Abnormal heart morphology Kyphosis Dystonia Congestive heart failure Vomiting Blindness Cardiomyopathy Respiratory distress Respiratory insufficiency Fatigue Bifid clitoris



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