ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT
ECTD10A
HED
Number of Symptoms 11
OrphanetNr:
OMIM Id: 129490
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000674) Anodontia 18 / 7739
2
(HPO:0000668) Hypodontia 81 / 7739
3
(HPO:0006482) Abnormality of dental morphology 81 / 7739
4
(HPO:0000691) Microdontia 104 / 7739
5
(HPO:0001006) Hypotrichosis 219 / 7739
6
(HPO:0002164) Nail dysplasia 82 / 7739
7
(HPO:0000966) Hypohidrosis 41 / 7739
8
(HPO:0002046) Heat intolerance 13 / 7739
9
(OMIM) Sparse eyebrows and eyelashes 4 / 7739
10
(OMIM) Fine, slow-growing hair 1 / 7739
11
(OMIM) Smooth, thin, dry skin 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.

Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized ...

Clinical Description OMIM Jorgenson et al. (1987) described a 3-generation family with hypohidrotic ectodermal dysplasia. The 4 affected members had mild hypotrichosis, mild hypodontia, and variable degrees of hypohidrosis. Scanning electron microscopy showed defective cuticular layer of the hair shafts with ...
Molecular genetics OMIM Monreal et al. (1999) identified mutations in the EDAR gene, the human homolog of the mouse 'downless' gene (DL), in 3 HED families displaying recessive inheritance (604095.0001) and in 2 HED families displaying dominant inheritance. A single change ...