ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE

General Information (adopted from Orphanet):

Synonyms, Signs: ECTD7
Number of Symptoms 19
OrphanetNr:
OMIM Id: 614929
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:0000535) Sparse and thin eyebrow 76 / 7739
2
(HPO:0000653) Sparse eyelashes 58 / 7739
3
(HPO:0001006) Hypotrichosis 219 / 7739
4
(HPO:0007436) Hair-nail ectodermal dysplasia 5 / 7739
5
(HPO:0008391) Dystrophic fingernails 6 / 7739
6
(HPO:0001810) Dystrophic toenail 9 / 7739
7
(HPO:0002299) Brittle hair 52 / 7739
8
(HPO:0001806) Onycholysis 20 / 7739
9
(OMIM) Normal skin 5 / 7739
10
(OMIM) No pubic hair 1 / 7739
11
(OMIM) Normal sweating 13 / 7739
12
(OMIM) Normal teeth 15 / 7739
13
(OMIM) Hyponychia 2 / 7739
14
(OMIM) Total alopecia at birth 2 / 7739
15
(OMIM) No axillary hair 2 / 7739
16
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
(OMIM) Micronychia 4 / 7739
18
(OMIM) No eyelashes 1 / 7739
19
(OMIM) No eyebrows 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. (2007) reported a consanguineous Pakistani family in which multiple members had a hair/nail type of ectodermal dysplasia. In those affected, hair was absent from the scalp, face, chest, arms, and legs. The patients were born ...
Molecular genetics OMIM - Exclusion Studies

Naeem et al. (2007) performed DNA sequence analysis of the coding exons and splice sites of 6 hair keratin genes, including KRTHB5 (KRT85; 602767), located in the linkage interval (12p11.1-q21.1) identified in a ...