Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type; Ectd12

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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 (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

Genes related to Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type; Ectd12

KDF1

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Clinical Features

Top most frequent phenotypes and symptoms related to Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type; Ectd12

Hyperhidrosis
Hyperkeratosis
Sparse hair
Short philtrum
Nail dystrophy
Hypotrichosis
Thick vermilion border
Hypodontia
Ectodermal dysplasia
Hypohidrosis

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Ectodermal Dysplasia 12, Hypohidrotic/hair/tooth/nail Type; Ectd12 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ectodermal dysplasia Comprehensive panel. By Connective Tissue Gene Tests (United States). EDARADD, KDF1, KRT74, EDAR, EDA, GJB6, HOXC13, KRT85, MSX1 Specificity 12 % Genes 100 %
Ectodermal dysplasia Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). EDARADD, KDF1, KRT74, EDAR, EDA, GJB6, HOXC13, KRT85, MSX1 Specificity 12 % Genes 100 %
Ectodermal dysplasia NGS panel. By Connective Tissue Gene Tests (United States). EDARADD, KDF1, KRT74, EDAR, EDA, GJB6, HOXC13, KRT85, MSX1 Specificity 12 % Genes 100 %
KDF1. By Fulgent Genetics Fulgent Genetics (United States). KDF1 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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