ECTODERMAL DYSPLASIA 6, HAIR/NAIL TYPE

General Information (adopted from Orphanet):

Synonyms, Signs: ECTD6
Number of Symptoms 9
OrphanetNr:
OMIM Id: 614928
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007436) Hair-nail ectodermal dysplasia 5 / 7739
2
(HPO:0001810) Dystrophic toenail 9 / 7739
3
(OMIM) Total alopecia at birth 2 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Thin toenails 1 / 7739
6
(OMIM) Hair can be painlessly plucked without force 1 / 7739
7
(OMIM) Curly, sparse hair on the scalp at 5 years of age 1 / 7739
8
(HPO:0012746) Thin toenail 1 / 7739
9
(OMIM) Koilonychia of fingernails and toenails 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare ...
Clinical Description OMIM Naeem et al. (2006) reported a consanguineous Pakistani family in which multiple members had a hair/nail form of ectodermal dysplasia. All of those affected were born with total alopecia and dystrophic nails. Hair was absent from the scalp, ...
Molecular genetics OMIM - Exclusion Studies

Naeem et al. (2006) sequenced 5 epithelial keratin genes located in the candidate region on chromosome 17p12-q21.2 and did not find any pathogenic mutation in the affected individuals in a Pakistani family segregating ...