MCID: OPT071
MIFTS: 18

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

Categories: Ear diseases, Eye diseases, Neuronal diseases

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

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

Name: Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive 57 6

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
possible autosomal dominant form


HPO:

31
optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



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

MalaCards based summary : Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive is related to charcot-marie-tooth disease, x-linked recessive, 5. An important gene associated with Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive is PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1). Related phenotypes are visual impairment and optic atrophy

More information from OMIM: 258650

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

Diseases in the Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant family:

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

Diseases related to Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, x-linked recessive, 5 11.6

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

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

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 optic atrophy 31 HP:0000648
3 pectus excavatum 31 HP:0000767
4 areflexia 31 HP:0001284
5 short thumb 31 HP:0009778
6 gait ataxia 31 HP:0002066
7 broad-based gait 31 HP:0002136
8 positive romberg sign 31 HP:0002403
9 distal muscle weakness 31 HP:0002460
10 distal sensory impairment 31 HP:0002936
11 progressive sensorineural hearing impairment 31 HP:0000408
12 thoracic scoliosis 31 HP:0002943
13 distal upper limb amyotrophy 31 HP:0007149
14 joint contracture of the hand 31 HP:0009473
15 peripheral demyelination 31 HP:0011096
16 ulnar deviation of the hand 31 HP:0009487

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
optic atrophy
visual impairment (childhood-onset)

Skeletal Spine:
thoracic scoliosis

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

Neurologic Peripheral Nervous System:
areflexia
broad-based gait
positive romberg sign
ataxic gait
normal nerve conduction velocities
more
Skeletal Hands:
short thumbs
ulnar deviation of the hands
subluxed hand joints
flexed fingers

Chest External Features:
funnel chest

Clinical features from OMIM®:

258650 (Updated 05-Mar-2021)

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 Recessive

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 Recessive:

# Title Authors PMID Year
1
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy. 6
25182139 2015
2
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy. 6
25491489 2014
3
Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy. 6
24285972 2013
4
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). 6
17701900 2007
5
Optic atrophy, neural deafness, and distal neurogenic amyotrophy; report of a family with two affected siblings. 57
5417642 1970
6
Familial optic and acoustic nerve degeneration with distal amyotrophy. 57
4183781 1969
7
Familial opticoacoustic nerve degeneration and polyneuropathy. 57
6069085 1967

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

ClinVar genetic disease variations for Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Recessive:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRPS1 NM_002764.3(PRPS1):c.129A>C (p.Glu43Asp) SNV Pathogenic 9934 rs80338731 X:106882531-106882531 X:107639301-107639301
2 PRPS1 NM_002764.3(PRPS1):c.344T>C (p.Met115Thr) SNV Pathogenic 9935 rs80338732 X:106884169-106884169 X:107640939-107640939
3 PRPS1 NM_001204402.1(PRPS1):c.-159T>C SNV Pathogenic 223101 rs869025594 X:106871904-106871904 X:107628674-107628674
4 PRPS1 NM_002764.3(PRPS1):c.343A>G (p.Met115Val) SNV Pathogenic 140572 rs587781262 X:106884168-106884168 X:107640938-107640938
5 PRPS1 NM_002764.3(PRPS1):c.925G>T (p.Val309Phe) SNV Pathogenic 140573 rs587781263 X:106893230-106893230 X:107650000-107650000
6 PRPS1 NM_001204402.1(PRPS1):c.-82-4220C>G SNV Pathogenic 100767 rs587777150 X:106884187-106884187 X:107640957-107640957

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 Recessive.

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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