MCID: OPT029
MIFTS: 10

Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal...

MalaCards integrated aliases for Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant:

Name: Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
possible autosomal recessive form


HPO:

33
optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 165199
MedGen 43 C1833831

Summaries for Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal...

MalaCards based summary : Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant Affiliated tissues include eye, and related phenotypes are visual impairment and optic atrophy

Description from OMIM: 165199

Related Diseases for Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal...

Symptoms & Phenotypes for Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal...

Human phenotypes related to Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant:

33
# Description HPO Frequency HPO Source Accession
1 visual impairment 33 HP:0000505
2 optic atrophy 33 HP:0000648
3 areflexia of lower limbs 33 HP:0002522
4 impaired vibration sensation in the lower limbs 33 HP:0002166
5 progressive sensorineural hearing impairment 33 HP:0000408

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
optic atrophy
visual impairment (childhood-onset)

Neurologic Peripheral Nervous System:
distal vibratory impairment of the lower limbs
areflexia of the lower limbs
nerve conduction velocities may be normal or mildly decreased

Head And Neck Ears:
hearing loss, sensorineural, progressive (childhood-onset)

Clinical features from OMIM:

165199

Drugs & Therapeutics for Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal...

Search Clinical Trials , NIH Clinical Center for Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant

Genetic Tests for Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal...

Anatomical Context for Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal...

MalaCards organs/tissues related to Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant:

42
Eye

Publications for Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal...

Variations for Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal...

Expression for Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal...

Search GEO for disease gene expression data for Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant.

Pathways for Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal...

GO Terms for Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal...

Sources for Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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