ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE

General Information (adopted from Orphanet):

Synonyms, Signs: ECTODERMAL DYSPLASIA, &#39
PURE&#39
HAIR/NAIL TYPE
ECTD4
Number of Symptoms 16
OrphanetNr:
OMIM Id: 602032
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant 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:0000561) Absent eyelashes 18 / 7739
2
(HPO:0002223) Absent eyebrow 21 / 7739
3
(HPO:0001596) Alopecia 162 / 7739
4
(HPO:0008404) Nail dystrophy 89 / 7739
5
(HPO:0001806) Onycholysis 20 / 7739
6
(HPO:0002299) Brittle hair 52 / 7739
7
(HPO:0002231) Sparse body hair 9 / 7739
8
(HPO:0004779) Brittle scalp hair 4 / 7739
9
(HPO:0003777) Pili torti 24 / 7739
10
(HPO:0001808) Fragile nails 21 / 7739
11
(HPO:0009886) Trichorrhexis nodosa 12 / 7739
12
(OMIM) No mental retardation 5 / 7739
13
(OMIM) Normal sweating 13 / 7739
14
(OMIM) Normal teeth 15 / 7739
15
(OMIM) Absent body hair 2 / 7739
16
(OMIM) Micronychia 4 / 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 Calzavara-Pinton et al. (1991) reported a family with an autosomal recessive form of hidrotic ectodermal dysplasia involving the hair and nails. Affected members had scalp, beard, axillary, and pubic hairs 1 to 10 mm long. The hair was ...
Molecular genetics OMIM In a large consanguineous Pakistani family with ectodermal dysplasia that had been mapped to a 15.0-Mb region on chromosome 12q13.13, Naeem et al. (2006) sequenced 6 candidate type II hair keratin genes and identified homozygosity for a missense ...