ECTD15
MCID: ECT111
MIFTS: 9

Ectodermal Dysplasia 15, Hypohidrotic/hair Type (ECTD15)

Categories: Genetic diseases

Aliases & Classifications for Ectodermal Dysplasia 15, Hypohidrotic/hair Type

MalaCards integrated aliases for Ectodermal Dysplasia 15, Hypohidrotic/hair Type:

Name: Ectodermal Dysplasia 15, Hypohidrotic/hair Type 57 6
Ectd15 57

Classifications:



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Summaries for Ectodermal Dysplasia 15, Hypohidrotic/hair Type

OMIM : 57 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-15 (ECTD15) is characterized by hypotrichosis that develops in early childhood and absence of sweating except with extreme exercise. Skin is dry from birth and eczematous lesions may develop in adulthood. Other features include blepharitis and photophobia (van den Bogaard et al., 2019). (618535)

MalaCards based summary : Ectodermal Dysplasia 15, Hypohidrotic/hair Type, is also known as ectd15. An important gene associated with Ectodermal Dysplasia 15, Hypohidrotic/hair Type is CST6 (Cystatin E/M). Affiliated tissues include skin.

Related Diseases for Ectodermal Dysplasia 15, Hypohidrotic/hair Type

Symptoms & Phenotypes for Ectodermal Dysplasia 15, Hypohidrotic/hair Type

Clinical features from OMIM:

618535

Drugs & Therapeutics for Ectodermal Dysplasia 15, Hypohidrotic/hair Type

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia 15, Hypohidrotic/hair Type

Genetic Tests for Ectodermal Dysplasia 15, Hypohidrotic/hair Type

Anatomical Context for Ectodermal Dysplasia 15, Hypohidrotic/hair Type

MalaCards organs/tissues related to Ectodermal Dysplasia 15, Hypohidrotic/hair Type:

41
Skin

Publications for Ectodermal Dysplasia 15, Hypohidrotic/hair Type

Articles related to Ectodermal Dysplasia 15, Hypohidrotic/hair Type:

# Title Authors PMID Year
1
Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin. 8
30425301 2019

Variations for Ectodermal Dysplasia 15, Hypohidrotic/hair Type

ClinVar genetic disease variations for Ectodermal Dysplasia 15, Hypohidrotic/hair Type:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CST6 CST6, GLN121TER single nucleotide variant Pathogenic

Expression for Ectodermal Dysplasia 15, Hypohidrotic/hair Type

Search GEO for disease gene expression data for Ectodermal Dysplasia 15, Hypohidrotic/hair Type.

Pathways for Ectodermal Dysplasia 15, Hypohidrotic/hair Type

GO Terms for Ectodermal Dysplasia 15, Hypohidrotic/hair Type

Sources for Ectodermal Dysplasia 15, Hypohidrotic/hair Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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