ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMALRECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: ECTODERMAL DYSPLASIA, ANHIDROTIC
ECTD10B
ECTODERMAL DYSPLASIA, HYPOHIDROTIC
HED
EDA
Number of Symptoms 14
OrphanetNr:
OMIM Id: 224900
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:0000674) Anodontia 18 / 7739
2
 (HPO:0001106) Periorbital hyperpigmentation 3 / 7739
3
 (HPO:0000691) Microdontia 104 / 7739
4
 (HPO:0006482) Abnormality of dental morphology 81 / 7739
5
 (HPO:0002007) Frontal bossing 366 / 7739
6
 (HPO:0000668) Hypodontia 81 / 7739
7
 (HPO:0005280) Depressed nasal bridge 381 / 7739
8
 (HPO:0000607) Periorbital wrinkles 4 / 7739
9
 (HPO:0000970) Anhidrosis 24 / 7739
10
 (HPO:0000966) Hypohidrosis 41 / 7739
11
 (HPO:0001006) Hypotrichosis 219 / 7739
12
 (HPO:0002046) Heat intolerance 13 / 7739
13
 (OMIM) Prominent lips 7 / 7739
14
 (OMIM) Sparse eyebrows and eyelashes 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.

Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized ...
Clinical Description OMIM Shimomura et al. (2004) reported a 24-year-old Japanese woman with autosomal recessive hypohidrotic ectodermal dysplasia. Her parents were unaffected and there was no consanguinity. She had heat intolerance, sparse hair, periorbital wrinkling, and oligodontia, and reported recurrent fevers ...
Genotype-Phenotype Correlations OMIM Van der Hout et al. (2008) identified mutations in the EDAR gene in 5 (28%) of 18 EDA-negative probands with hypohidrotic ectodermal dysplasia. Four families showed autosomal dominant inheritance. In 1 family, 2 affected boys with a severe ...
Molecular genetics OMIM Monreal et al. (1999) identified mutations in the EDAR gene in 3 HED families displaying recessive inheritance (see, e.g., 604095.0001) and in 2 HED families with autosomal dominant inheritance (604095.0005).

In an 18-year-old Lebanese woman with ...