MCID: WLF014
MIFTS: 15

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 57 12
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness, Mitochondrial Form 57
Diabetes Mellitus and Insipidus with Optic Atrophy and Deafness Mitochondrial Form 12
Didmoad Syndrome, Mitochondrial Form 57
Didmoad, Mitochondrial Form 12

Characteristics:

OMIM:

57
Inheritance:
mitochondrial form
also autosomal recessive


HPO:

32
wolfram syndrome, mitochondrial form:
Inheritance autosomal recessive inheritance mitochondrial inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080583
OMIM 57 598500
MedGen 42 C1838782

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 nystagmus and diabetes mellitus

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:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 diabetes mellitus 32 HP:0000819
3 intellectual disability 32 HP:0001249
4 seizures 32 HP:0001250
5 sensorineural hearing impairment 32 HP:0000407
6 optic atrophy 32 HP:0000648
7 blindness 32 HP:0000618
8 abnormality of the skeletal system 32 HP:0000924
9 thrombocytopenia 32 HP:0001873
10 diabetes insipidus 32 HP:0000873
11 hydronephrosis 32 HP:0000126
12 neutropenia 32 HP:0001875
13 hydroureter 32 HP:0000072
14 megaloblastic anemia 32 HP:0001889
15 abnormal autonomic nervous system physiology 32 HP:0012332
16 sideroblastic anemia 32 HP:0001924

Symptoms via clinical synopsis from OMIM:

57
Neuro:
nystagmus
seizures
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:

41
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. 8
15151504 2004
2
Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes. 8
9027481 1997
3
A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. 8
8601620 1996
4
Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD). 8
8071960 1994
5
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). 8
8383698 1993
6
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome). 8
7609443 1993
7
Mitochondrial abnormalities in the DIDMOAD syndrome. 8
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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