ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMALDOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL DOMINANT
ECTD11A
HED
Number of Symptoms 9
OrphanetNr:
OMIM Id: 614940
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000232) Everted lower lip vermilion 90 / 7739
2
(HPO:0000290) Abnormality of the forehead 5 / 7739
3
(HPO:0006483) Abnormal number of teeth 3 / 7739
4
(HPO:0002561) Absent nipple rare [HPO:skoehler] 12 / 7739
5
(HPO:0008070) Sparse hair 94 / 7739
6
(HPO:0007607) Hypohidrotic ectodermal dysplasia 5 / 7739
7
(HPO:0000970) Anhidrosis 24 / 7739
8
(HPO:0000958) Dry skin 152 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 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 Bal et al. (2007) reported a large Moroccan family in which 7 members had the clinical triad of hypohidrotic ectodermal dysplasia, i.e., hypotrichosis, hypodontia, and anhidrosis.
Molecular genetics OMIM In 7 affected members of a large Moroccan family with autosomal dominant anhidrotic ectodermal dysplasia, Bal et al. (2007) identified a heterozygous mutation in the EDARADD gene (606603.0002). The findings indicated that mutations in the EDARADD gene can ...