Autosomal recessive epidermolysis bullosa simplex

General Information (adopted from Orphanet):

Synonyms, Signs: EBS-AR
Number of Symptoms 13
OrphanetNr: 89838
OMIM Id: 601001
615425
ICD-10: Q81.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Basal epidermolysis bullosa simplex
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000670) Carious teeth Frequent [Orphanet] 145 / 7739
2
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
3
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
4
 (HPO:0001597) Abnormality of the nail Frequent [Orphanet] 115 / 7739
5
 (HPO:0008064) Ichthyosis Occasional [Orphanet] 108 / 7739
6
 (HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
7
 (HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
8
 (HPO:0001807) Ridged nail 20 / 7739
9
 (HPO:0001805) Thick nail 96 / 7739
10
 (HPO:0001903) Anemia Frequent [Orphanet] 289 / 7739
11
 (HPO:0003828) Variable expressivity 130 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
 (HPO:0003577) Congenital onset 133 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: