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:
expandDiabetes Insipidus (D003919)
Parent Node:
expandDiabetes Mellitus (D003920)
Parent Node:
expandHearing Loss, Sensorineural (D006319)
Parent Node:
expandOptic Atrophies, Hereditary (D015418)
..Starting node
..expandWolfram Syndrome, Mitochondrial Form (C564012)

       Child Nodes:



 Sister Nodes: 
..expandBerk-Tabatznik syndrome (C535432)
..expandFriedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)
..expandGrowth retardation, Alopecia, Pseudoanodontia and Optic atrophy (C535642)
..expandHagemoser Weinstein Bresnick syndrome (C537626)
..expandKonigsmark Knox Hussels syndrome (C537214)
..expandMetaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395)
..expandNecrotizing Encephalomyelopathy, Subacute, of Leigh, Adult (C563530)
..expandOptic atrophy 1 and deafness (C537124)
..expandOptic Atrophy 4 (C565343)
..expandOptic atrophy 5 (C537126)
..expandOptic atrophy 6 (C537127)
..expandOptic Atrophy 7 (C567833)
..expandOptic atrophy and cataract, autosomal dominant (C537128)
..expandOptic atrophy polyneuropathy deafness (C537129)
..expandOptic Atrophy Spastic Paraplegia Syndrome (C564084)
..expandOptic Atrophy with Demyelinating Disease of CNS (C563496)
..expandOptic Atrophy with Negative Electroretinograms (C563494)
..expandOptic Atrophy, Autosomal Dominant (D029241)
..expandOptic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1
..expandSenior Loken Syndrome (C537580)
..expandSenior-Loken Syndrome 3 (C564637)
..expandSenior-Loken Syndrome 5 (C563763)
..expandSenior-Loken Syndrome 6 (C565708)
..expandSpastic Paraplegia, Optic Atrophy, And Dementia (C566679)
..expandSpastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..expandWolfram Syndrome (D014929) Child1
..expandWolfram Syndrome, Mitochondrial Form (C564012)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:11781
Name:Wolfram Syndrome, Mitochondrial Form
Definition:
Alternative IDs:
ParentIDs:MESH:D003919|MESH:D003920|MESH:D006319|MESH:D015418
TreeNumbers:C09.218.458.341.887/C564012 |C10.292.700.225.500/C564012 |C10.574.500.662/C564012 |C10.597.751.418.341.887/C564012 |C11.270.564/C564012 |C11.640.451.451/C564012 |C12.777.419.135/C564012 |C13.351.968.419.135/C564012 |C16.320.290.564/C564012 |C16.320.400.630/C56401
Synonyms:Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness, Mitochondrial Form |DIDMOAD Syndrome, Mitochondrial Form
Slim Mappings:Ear-nose-throat disease|Endocrine system disease|Eye disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C564012
MeSH: C564012
OMIM: 598500;

Genes:
Phenotypes
1 HP:0002459obsolete Dysautonomia
2 HP:0000924Abnormality of the skeletal system
3 HP:0000618Blindness
4 HP:0000873Diabetes insipidus
5 HP:0000819Diabetes mellitus
6 HP:0000126Hydronephrosis
7 HP:0000072Hydroureter
8 HP:0001249Intellectual disability
9 HP:0001889Megaloblastic anemia
10 HP:0001875Neutropenia
11 HP:0000639Nystagmus
12 HP:0000648Optic atrophy
13 HP:0001250Seizure
14 HP:0000407Sensorineural hearing impairment
15 HP:0001924Sideroblastic anemia
16 HP:0001873Thrombocytopenia
Disease Causing ClinVar Variants