DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 18
OrphanetNr:
OMIM Id: 124950
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0011120) Concave nasal ridge 9 / 7739
2
 (HPO:0001085) Papilledema 31 / 7739
3
 (HPO:0008043) Retinal arteriolar constriction 5 / 7739
4
 (HPO:0001730) Progressive hearing impairment 29 / 7739
5
 (HPO:0008619) Bilateral sensorineural hearing impairment 23 / 7739
6
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
7
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
8
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
9
 (HPO:0002922) Increased CSF protein 27 / 7739
10
 (HPO:0009830) Peripheral neuropathy 206 / 7739
11
 (HPO:0001271) Polyneuropathy 56 / 7739
12
 (HPO:0002315) Headache 175 / 7739
13
 (HPO:0000988) Skin rash 98 / 7739
14
 (HPO:0004950) Peripheral arterial disease 3 / 7739
15
 (OMIM) Elevation of spinal fluid protein and cells 1 / 7739
16
 (OMIM) Contracted retinal arteries 1 / 7739
17
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
 (OMIM) Mild saddle nose 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: