Ectodermal Dysplasia 7, Hair/nail Type; Ectd7

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. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.

Genes related to Ectodermal Dysplasia 7, Hair/nail Type; Ectd7

KRT74

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Clinical Features

Top most frequent phenotypes and symptoms related to Ectodermal Dysplasia 7, Hair/nail Type; Ectd7

Alopecia
Hyperhidrosis
Nail dystrophy
Hypotrichosis
Ectodermal dysplasia
Sparse and thin eyebrow
Sparse eyelashes
Brittle hair
Dystrophic toenail
Dystrophic fingernails

And another 4 symptoms. If you need more information about this disease we can help you.

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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 7, Hair/nail Type; Ectd7 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypotrichosis 3 (sequence analysis of KRT74 gene). By CGC Genetics (Portugal). KRT74 Specificity 100 % Genes 100 %
Ectodermal dysplasia (NGS panel for 8 genes). By CGC Genetics (Portugal). EDARADD, KRT74, EDAR, EDA, GJB6, HOXC13, KRT85, MSX1 Specificity 13 % Genes 100 %
Hypotrichosis (NGS panel of 10 genes). By CGC Genetics (Portugal). RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR Specificity 10 % Genes 100 %
Ectodermal dysplasia (NGS panel for 8 genes). By CGC Genetics (Portugal). EDARADD, KRT74, EDAR, EDA, GJB6, HOXC13, KRT85, MSX1 Specificity 13 % Genes 100 %
Hypotrichosis (NGS panel of 10 genes). By CGC Genetics (Portugal). RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR Specificity 10 % Genes 100 %
Hypotrichosis Comprehensive panel. By Connective Tissue Gene Tests (United States). RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR Specificity 10 % Genes 100 %
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 %

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Sources and references

You can check the following sources for additional information.

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