ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMALRECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: ECTODERMAL DYSPLASIA, ANHIDROTIC
ECTD11B
ECTODERMAL DYSPLASIA, HYPOHIDROTIC
HED
EDA
Number of Symptoms 9
OrphanetNr:
OMIM Id: 614941
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0006483) Abnormal number of teeth 3 / 7739
2
(HPO:0000366) Abnormality of the nose 56 / 7739
3
(HPO:0000290) Abnormality of the forehead 5 / 7739
4
(HPO:0000232) Everted lower lip vermilion 90 / 7739
5
(HPO:0002561) Absent nipple rare [HPO:skoehler] 12 / 7739
6
(HPO:0008070) Sparse hair 94 / 7739
7
(HPO:0000970) Anhidrosis 24 / 7739
8
(HPO:0000958) Dry skin 152 / 7739
9
(HPO:0000968) Ectodermal dysplasia obligate [HPO:skoehler] 46 / 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 Munoz et al. (1997) identified 5 families with possible autosomal recessive HED on the basis of the presence of severely affected females and unaffected parents in single sibships and in highly consanguineous families with multiple affected family members. ...
Molecular genetics OMIM Headon et al. (2001) identified a homozygous mutation in the EDARADD gene (606603.0001) in a family (ED1176) with HED reported by Munoz et al. (1997).