Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCollagen Diseases (D003095)
Parent Node:
expandNephritis (D009393)
Parent Node:
expandUrogenital Abnormalities (D014564)
..Starting node
..expandNephritis, Hereditary (D009394)

       Child Nodes:
........expandAlport syndrome, dominant type (C536586)
........expandAlport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
........expandAlport syndrome, recessive type (C536587)
........expandALPORT SYNDROME, X-LINKED (OMIM:301050)
........expandAlport Syndrome-Like Hereditary Nephritis (C562890)
........expandDaentl Towsend Siegel syndrome (C535768)
........expandDeafness nephritis ano rectal malformation (C535996)
........expandLeiomyomatosis, esophageal and vulval, with nephropathy (C537113)
........expandNephropathy, Progressive, with Deafness (C563713)
........expandRenal Failure, Progressive, with Hypertension (C562889)
........expandSalcedo syndrome (C537228)



 Sister Nodes: 
..expandAllanson Pantzar McLeod syndrome (C537048) Child1
..expandANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
..expandAtrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects (C563994)
..expandB-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
..expandBEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..expandBladder Exstrophy (D001746) Child1
..expandCalabro syndrome (C537960)
..expandCleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly (C563936)
..expandCorpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
..expandCryptorchidism (D003456) Child12
..expandDisorders of Sex Development (D012734) Child107
..expandDK Phocomelia Syndrome (C565618)
..expandDuker Weiss Siber syndrome (C535719)
..expandEpispadias (D004842) Child1
..expandGenitopatellar Syndrome (C565255)
..expandGenitourinary Tract Anomalies (C564424)
..expandHand foot uterus syndrome (C535627)
..expandHemolytic Anemia, Lethal Congenital Nonspherocytic, with Genital and Other Abnormalities (C563935)
..expandHypospadias (D007021) Child17
..expandIntrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
..expandLissencephaly, X-Linked, 2 (C564563)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrophthalmia, Syndromic 6 (C566440)
..expandMulticystic Dysplastic Kidney (D021782) Child2
..expandMyotubular Myopathy with Abnormal Genital Development (C564561)
..expandNephritis, Hereditary (D009394) Child11
..expandNephrosis deafness urinary tract digital malformation (C536402)
..expandNoduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..expandOmphalocele exstrophy imperforate anus (C537748)
..expandPiepkorn Karp Hickok syndrome (C535774)
..expandPopliteal Pterygium Syndrome (C562509)
..expandProud Syndrome (C563110)
..expandPyelectasis (D058536)
..expandRenal Adysplasia (C563261)
..expandRenal dysplasia - limb defects syndrome (C537754)
..expandRenal, Genital, and Middle Ear Anomalies (C564849)
..expandRetrocaval Ureter (D064749)
..expandRobinow Syndrome, Autosomal Dominant (C562492)
..expandRosselli-Gulienetti Syndrome (C563117)
..expandSplit-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects (C566662)
..expandSpondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies (C564799)
..expandToe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
..expandUreter, Bifid Or Double (C566012)
..expandUrinary Fistula (D014548) Child2
..expandUterine Anomalies (C562565)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:7866
Name:Nephritis, Hereditary
Definition:A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE.
Alternative IDs:
ParentIDs:MESH:D003095|MESH:D009393|MESH:D014564
TreeNumbers:C12.706.742 |C12.777.419.570.620 |C13.351.875.742 |C13.351.968.419.570.620 |C16.131.939.742 |C17.300.200.517
Synonyms:Alport's Syndrome |Alport Syndrome |Alport Syndrome, Autosomal Dominant |Alport Syndrome, Autosomal Recessive |Alport Syndrome, X Linked |Alport Syndrome, X-Linked |Congenital Hereditary Hematuria |Familial Nephritis |Hematuria, Congenital Hereditary |Hematuria N
Slim Mappings:Congenital abnormality|Connective tissue disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: D009394
MeSH: D009394
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants