MCID: DFN340
MIFTS: 11

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 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
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 headache

Description from OMIM: 124950

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

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

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

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 concave nasal ridge 33 HP:0011120
2 headache 33 HP:0002315
3 skin rash 33 HP:0000988
4 papilledema 33 HP:0001085
5 polyneuropathy 33 HP:0001271
6 increased csf protein 33 HP:0002922
7 progressive hearing impairment 33 HP:0001730
8 bilateral sensorineural hearing impairment 33 HP:0008619
9 peripheral arterial stenosis 33 HP:0004950
10 retinal arteriolar constriction 33 HP:0008043

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
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 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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