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:
expandAtherosclerosis (D050197)
Parent Node:
expandDiabetes Mellitus (D003920)
Parent Node:
expandEpilepsy, Partial, Sensory (D020937)
Parent Node:
expandHearing Loss, Sensorineural (D006319)
Parent Node:
expandHeredodegenerative Disorders, Nervous System (D020271)
Parent Node:
expandKidney Diseases (D007674)
..Starting node
..expandAtherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)

       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:1004
Name:Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease
Definition:
Alternative IDs:
ParentIDs:MESH:D003920|MESH:D006319|MESH:D007674|MESH:D020271|MESH:D020937|MESH:D050197
TreeNumbers:C09.218.458.341.887/C565928 |C10.228.140.490.360.275/C565928 |C10.574.500/C565928 |C10.597.751.418.341.887/C565928 |C12.777.419/C565928 |C13.351.968.419/C565928 |C14.907.137.126.307/C565928 |C16.320.400/C565928 |C18.452.394.750/C565928 |C19.246/C565928 |C23.888.59
Synonyms:
Slim Mappings:Cardiovascular disease|Ear-nose-throat disease|Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C565928
MeSH: C565928
OMIM: 209010;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001317Abnormal cerebellum morphology
3 HP:0007201Cerebral artery atherosclerosis
4 HP:0001677Coronary artery atherosclerosis
5 HP:0000819Diabetes mellitus
6 HP:0000112Nephropathy
7 HP:0001327Photosensitive myoclonic seizure
8 HP:0000093Proteinuria
9 HP:0001920Renal artery stenosis
10 HP:0000407Sensorineural hearing impairment
Disease Causing ClinVar Variants