ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE

General Information (adopted from Orphanet):

Synonyms, Signs: ECTD9
Number of Symptoms 9
OrphanetNr:
OMIM Id: 614931
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:0000968) Ectodermal dysplasia 46 / 7739
2
(HPO:0002289) Alopecia universalis 20 / 7739
3
(HPO:0001006) Hypotrichosis 219 / 7739
4
(HPO:0001596) Alopecia 162 / 7739
5
(HPO:0001598) Concave nail 14 / 7739
6
(HPO:0008404) Nail dystrophy 89 / 7739
7
(HPO:0004528) Generalized hypotrichosis 18 / 7739
8
(OMIM) Micronychia 4 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 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 ...

Clinical Description OMIM Lin et al. (2012) described a 5-generation consanguineous Chinese Hui family segregating ectodermal dysplasia-9. The 3 affected individuals showed congenital atrichia and severe nail dystrophy. All vellus, lanugo, and terminal hairs were absent on the scalp and body, ...
Molecular genetics OMIM Lin et al. (2012) performed whole-exome sequencing in a consanguineous Chinese family segregating ectodermal dysplasia-9 and identified a homozygous nonsense mutation (Y130X; 142976.0001) in the HOXC13 gene in all 3 affected individuals. In a female with hypotrichosis and ...