MCID: WLF014
MIFTS: 17

Wolfram Syndrome, Mitochondrial Form

Categories: Ear diseases, Eye diseases

Aliases & Classifications for Wolfram Syndrome, Mitochondrial Form

MalaCards integrated aliases for Wolfram Syndrome, Mitochondrial Form:

Name: Wolfram Syndrome, Mitochondrial Form 56 12
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness, Mitochondrial Form 56
Diabetes Mellitus and Insipidus with Optic Atrophy and Deafness Mitochondrial Form 12
Didmoad Syndrome, Mitochondrial Form 56
Didmoad, Mitochondrial Form 12

Characteristics:

OMIM:

56
Inheritance:
mitochondrial form
also autosomal recessive


HPO:

31
wolfram syndrome, mitochondrial form:
Inheritance autosomal recessive inheritance mitochondrial inheritance


Classifications:



Summaries for Wolfram Syndrome, Mitochondrial Form

Disease Ontology : 12 A Wolfram syndrome that has material basis in mutation in mtDNA.

MalaCards based summary : Wolfram Syndrome, Mitochondrial Form, is also known as diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form. Affiliated tissues include brain, and related phenotypes are intellectual disability and sensorineural hearing impairment

More information from OMIM: 598500

Related Diseases for Wolfram Syndrome, Mitochondrial Form

Symptoms & Phenotypes for Wolfram Syndrome, Mitochondrial Form

Human phenotypes related to Wolfram Syndrome, Mitochondrial Form:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 sensorineural hearing impairment 31 HP:0000407
3 optic atrophy 31 HP:0000648
4 blindness 31 HP:0000618
5 nystagmus 31 HP:0000639
6 abnormality of the skeletal system 31 HP:0000924
7 thrombocytopenia 31 HP:0001873
8 diabetes insipidus 31 HP:0000873
9 diabetes mellitus 31 HP:0000819
10 hydronephrosis 31 HP:0000126
11 neutropenia 31 HP:0001875
12 hydroureter 31 HP:0000072
13 megaloblastic anemia 31 HP:0001889
14 abnormal autonomic nervous system physiology 31 HP:0012332
15 seizure 31 HP:0001250
16 sideroblastic anemia 31 HP:0001924

Symptoms via clinical synopsis from OMIM:

56
Neuro:
seizures
nystagmus
mental retardation
autonomic dysfunction
widespread atrophic brain changes on mri

Heme:
thrombocytopenia
neutropenia
megaloblastic anemia
sideroblastic anemia

G U:
hydronephrosis
hydroureter
distended bladder

Lab:
vasopressin deficiency
low erythrocyte thiamine pyrophosphate
low thiamine pyrophosphokinase activity
heteroplasmic mtdna deletion
mild hyperlactatemia

Eyes:
optic atrophy
blindness

Endo:
diabetes insipidus
early onset diabetes mellitus

Ears:
deafness
sensorineural hearing loss

Clinical features from OMIM:

598500

Drugs & Therapeutics for Wolfram Syndrome, Mitochondrial Form

Search Clinical Trials , NIH Clinical Center for Wolfram Syndrome, Mitochondrial Form

Genetic Tests for Wolfram Syndrome, Mitochondrial Form

Anatomical Context for Wolfram Syndrome, Mitochondrial Form

MalaCards organs/tissues related to Wolfram Syndrome, Mitochondrial Form:

40
Brain

Publications for Wolfram Syndrome, Mitochondrial Form

Articles related to Wolfram Syndrome, Mitochondrial Form:

# Title Authors PMID Year
1
Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families. 56
15151504 2004
2
Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes. 56
9027481 1997
3
A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. 56
8601620 1996
4
Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD). 56
8071960 1994
5
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). 56
8383698 1993
6
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome). 56
7609443 1993
7
Mitochondrial abnormalities in the DIDMOAD syndrome. 56
1383603 1992

Variations for Wolfram Syndrome, Mitochondrial Form

Expression for Wolfram Syndrome, Mitochondrial Form

Search GEO for disease gene expression data for Wolfram Syndrome, Mitochondrial Form.

Pathways for Wolfram Syndrome, Mitochondrial Form

GO Terms for Wolfram Syndrome, Mitochondrial Form

Sources for Wolfram Syndrome, Mitochondrial Form

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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