ECTD15
MCID: ECT111
MIFTS: 17

Ectodermal Dysplasia 15, Hypohidrotic/hair Type (ECTD15)

Categories: Genetic diseases, Skin 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 56 12 73 6
Ectd15 56 12 73
Ectodermal Dysplasia 15 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset of dry skin at birth
onset of hypotrichosis in early childhood
based on report of 3 patients from 1 turkish family (last curated august 2019)


HPO:

31
ectodermal dysplasia 15, hypohidrotic/hair type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111651
OMIM 56 618535
OMIM Phenotypic Series 56 PS305100
MeSH 43 D004476
MedGen 41 CN262183
UMLS 71 CN262183

Summaries for Ectodermal Dysplasia 15, Hypohidrotic/hair Type

OMIM : 56 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, and related phenotypes are photophobia and dry skin

Disease Ontology : 12 An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has material basis in homozygous or compound heterozygous mutation in CST6 on chromosome 11q13.1.

UniProtKB/Swiss-Prot : 73 Ectodermal dysplasia 15, hypohidrotic/hair type: A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD15 is an autosomal recessive form characterized by hypotrichosis 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 .

Related Diseases for Ectodermal Dysplasia 15, Hypohidrotic/hair Type

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

Human phenotypes related to Ectodermal Dysplasia 15, Hypohidrotic/hair Type:

31 (showing 7, show less)
# Description HPO Frequency HPO Source Accession
1 photophobia 31 HP:0000613
2 dry skin 31 HP:0000958
3 hypohidrosis 31 HP:0000966
4 blepharitis 31 HP:0000498
5 sparse body hair 31 HP:0002231
6 slow-growing hair 31 HP:0002217
7 sparse eyelashes 31 HP:0000653

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
photophobia
blepharitis
sparse eyelashes

Skin Nails Hair Hair:
sparse body hair
slow-growing hair
hypotrichosis of scalp

Skin Nails Hair Skin:
dry skin
hypohidrosis
eczematous lesions on hands and feet (in adulthood)

Skin Nails Hair Skin Histology:
thickened stratum corneum
thickened epidermis
abnormally heterogeneous water content pattern in stratum corneum

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:

40
Skin

Publications for Ectodermal Dysplasia 15, Hypohidrotic/hair Type

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

(showing 1, show less)
# Title Authors PMID Year
1
Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin. 56 6
30425301 2019

Variations for Ectodermal Dysplasia 15, Hypohidrotic/hair Type

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

6 (showing 1, show less) ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CST6 NM_001323.4(CST6):c.361C>T (p.Gln121Ter)SNV Pathogenic 666253 11:65780417-65780417 11:66012946-66012946

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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