MCID: OPT029
MIFTS: 8

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 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
possible autosomal recessive form


HPO:

32
optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 165199
MedGen 42 C1833831

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

MalaCards based summary : Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant Related phenotypes are visual impairment and optic atrophy

More information 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:

32
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 optic atrophy 32 HP:0000648
3 areflexia of lower limbs 32 HP:0002522
4 impaired vibration sensation in the lower limbs 32 HP:0002166
5 progressive sensorineural hearing impairment 32 HP:0000408

Symptoms via clinical synopsis from OMIM:

57
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...

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

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

# Title Authors PMID Year
1
Optic atrophy, hearing loss, and peripheral neuropathy. 8
2665489 1989

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
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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