Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expand
Epidermolysis Bullosa (D004820)
Parent Node:
expand
Hearing Loss, Sensorineural (D006319)
Parent Node:
expand
Kidney Diseases (D007674)
..Starting node
..expand
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness (C563798)

       Child Nodes:



 Sister Nodes: 
..expand46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
..expandAIDS-Associated Nephropathy (D016263)
..expandAlsing syndrome (C536588)
..expandAnuria (D001002)
..expandArnold Stickler Bourne syndrome (C537431)
..expandAtherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)
..expandBifid Nose With Or Without Anorectal And Renal Anomalies (C567672)
..expandBlue diaper syndrome (C536239)
..expandComplement Factor H Deficiency (C562875)
..expandDiabetes Insipidus (D003919) Child10
..expandDiabetic Nephropathies (D003928) Child4
..expandDimauro disease (C536176)
..expandFanconi Syndrome (D005198) Child3
..expandHepatorenal Syndrome (D006530)
..expandHereditary renal agenesis (C536482)
..expandHerrmann syndrome (C538113)
..expandHydranencephaly with Renal Aplasia-Dysplasia (C565507)
..expandHydronephrosis (D006869) Child5
..expandHyperoxaluria (D006959) Child4
..expandHypertension, Renal (D006977) Child3
..expandHYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1 (OMIM:162000)
..expandHYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3 (OMIM:614227)
..expandIchthyosis, mental retardation, dwarfism, and renal impairment (C536274)
..expandInfundibulopelvic dysgenesis (C535528)
..expandJejunal atresia with renal adysplasia (C537567)
..expandJoubert syndrome 5 (C537688)
..expandJoubert syndrome 6 (C537689)
..expandJoubert Syndrome 9 (C567364)
..expandJuvenile gout (C537696)
..expandKidney Cortex Necrosis (D007673)
..expandKidney Diseases, Cystic (D052177) Child52
..expandKidney Neoplasms (D007680) Child23
..expandKidney Papillary Necrosis (D007681)
..expandLachiewicz Sibley syndrome (C538131)
..expandLipoprotein Glomerulopathy (C567089)
..expandLymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus (C567188)
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
..expandNephritis (D009393) Child51
..expandNephrocalcinosis (D009397) Child6
..expandNephrolithiasis (D053040) Child11
..expandNEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 (OMIM:613159)
..expandNephropathy with Pretibial Epidermolysis Bullosa and Deafness (C563798)
..expandNephrosclerosis (D009400)
..expandNephrosis (D009401) Child22
..expandPerinephritis (D010501)
..expandRadio renal syndrome (C536267)
..expandRen-Related Kidney Disease (C580420)
..expandRenal Artery Obstruction (D012078)
..expandRenal dysplasia - limb defects syndrome (C537754)
..expandRenal Hypodysplasia, Nonsyndromic, 1 (C563661)
..expandRenal Insufficiency (D051437) Child15
..expandRenal Nutcracker Syndrome (D059228)
..expandRenal Osteodystrophy (D012080)
..expandRENAL TUBULAR DYSGENESIS (OMIM:267430)
..expandRenal Tubular Transport, Inborn Errors (D015499) Child76
..expandRenal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA (C564014)
..expandSelig Benacerraf Greene syndrome (C535840)
..expandSex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs (C567517)
..expandSiegler Brewer Carey syndrome (C537335)
..expandSpastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
..expandThrombocytopenia with Elevated Serum Iga and Renal Disease (C564051)
..expandThyrocerebral-retinal syndrome (C536908)
..expandTuberculosis, Renal (D014398)
..expandUremia (D014511) Child4
..expandZellweger Syndrome (D015211) Child3
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:7892
Name:Nephropathy with Pretibial Epidermolysis Bullosa and Deafness
Definition:
Alternative IDs:OMIM:609057
ParentIDs:MESH:D004820|MESH:D006319|MESH:D007674
TreeNumbers:C09.218.458.341.887/C563798 |C10.597.751.418.341.887/C563798 |C12.777.419/C563798 |C13.351.968.419/C563798 |C16.131.831.493/C563798 |C16.320.850.275/C563798 |C17.800.804.493/C563798 |C17.800.827.275/C563798 |C17.800.865.410/C563798 |C23.888.592.763.393.341.887/C5
Synonyms:
Slim Mappings:Congenital abnormality|Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Signs and symptoms|Skin disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C563798
MeSH: C563798
OMIM: 609057;

Genes: CD151;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0007678Lacrimal duct stenosis
3 HP:0008404Nail dystrophy
4 HP:0000123Nephritis
5 HP:0000112Nephropathy
6 HP:0012221Pretibial blistering
7 HP:0011906Reduced beta/alpha synthesis ratio
8 HP:0000407Sensorineural hearing impairment
9 HP:0003774Stage 5 chronic kidney disease
Disease Causing ClinVar Variants