MCID: DFN340
MIFTS: 12

Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease

Categories: Ear diseases, Neuronal diseases

Aliases & Classifications for Deafness, Sensorineural, with Peripheral Neuropathy and Arterial...

MalaCards integrated aliases for Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease:

Name: Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
deafness, sensorineural, with peripheral neuropathy and arterial disease:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Deafness, Sensorineural, with Peripheral Neuropathy and Arterial...

MalaCards based summary : Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease Affiliated tissues include skin, and related phenotypes are concave nasal ridge and skin rash

Description from OMIM: 124950

Related Diseases for Deafness, Sensorineural, with Peripheral Neuropathy and Arterial...

Symptoms & Phenotypes for Deafness, Sensorineural, with Peripheral Neuropathy and Arterial...

Symptoms via clinical synopsis from OMIM:

57
Neuro:
peripheral neuropathy
headache

Eyes:
papilledema
contracted retinal arteries

Ears:
sensorineural hearing loss
progressive hearing loss

Lab:
elevation of spinal fluid protein and cells

Skin:
skin rash

Vascular:
peripheral arterial disease

Nose:
mild saddle nose


Clinical features from OMIM:

124950

Human phenotypes related to Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 concave nasal ridge 32 HP:0011120
2 skin rash 32 HP:0000988
3 papilledema 32 HP:0001085
4 headache 32 HP:0002315
5 polyneuropathy 32 HP:0001271
6 progressive hearing impairment 32 HP:0001730
7 increased csf protein 32 HP:0002922
8 bilateral sensorineural hearing impairment 32 HP:0008619
9 peripheral arterial stenosis 32 HP:0004950
10 retinal arteriolar constriction 32 HP:0008043

Drugs & Therapeutics for Deafness, Sensorineural, with Peripheral Neuropathy and Arterial...

Search Clinical Trials , NIH Clinical Center for Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease

Genetic Tests for Deafness, Sensorineural, with Peripheral Neuropathy and Arterial...

Anatomical Context for Deafness, Sensorineural, with Peripheral Neuropathy and Arterial...

MalaCards organs/tissues related to Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease:

41
Skin

Publications for Deafness, Sensorineural, with Peripheral Neuropathy and Arterial...

Variations for Deafness, Sensorineural, with Peripheral Neuropathy and Arterial...

Expression for Deafness, Sensorineural, with Peripheral Neuropathy and Arterial...

Search GEO for disease gene expression data for Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease.

Pathways for Deafness, Sensorineural, with Peripheral Neuropathy and Arterial...

GO Terms for Deafness, Sensorineural, with Peripheral Neuropathy and Arterial...

Sources for Deafness, Sensorineural, with Peripheral Neuropathy and Arterial...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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