ECTD14
MCID: ECT110
MIFTS: 11

Ectodermal Dysplasia 14, Hair/tooth Type with or Without Hypohidrosis (ECTD14)

Categories: Genetic diseases

Aliases & Classifications for Ectodermal Dysplasia 14, Hair/tooth Type with or Without...

MalaCards integrated aliases for Ectodermal Dysplasia 14, Hair/tooth Type with or Without Hypohidrosis:

Name: Ectodermal Dysplasia 14, Hair/tooth Type with or Without Hypohidrosis 58 76 6
Ectd14 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable degree of scalp hypotrichosis


Classifications:



External Ids:

OMIM 58 618180
MeSH 45 D004476

Summaries for Ectodermal Dysplasia 14, Hair/tooth Type with or Without...

OMIM : 58 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-14 of the hair/tooth type is primarily characterized by scalp hypotrichosis and hypodontia. Some patients have decreased sweating, and some show subtle facial dysmorphism (Peled et al., 2016). (618180)

MalaCards based summary : Ectodermal Dysplasia 14, Hair/tooth Type with or Without Hypohidrosis, is also known as ectd14. An important gene associated with Ectodermal Dysplasia 14, Hair/tooth Type with or Without Hypohidrosis is TSPEAR (Thrombospondin Type Laminin G Domain And EAR Repeats).

UniProtKB/Swiss-Prot : 76 Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis: A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD14 is an autosomal recessive form characterized by scalp hypotrichosis, hypodontia, and mild facial dysmorphism. Some patients have decreased sweating.

Related Diseases for Ectodermal Dysplasia 14, Hair/tooth Type with or Without...

Symptoms & Phenotypes for Ectodermal Dysplasia 14, Hair/tooth Type with or Without...

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Teeth:
hypodontia
conical teeth

Head And Neck Mouth:
thick lips

Skin Nails Hair Skin:
hypohidrosis (in some patients)
follicular accentuation, especially over bony prominences

Head And Neck Head:
hypotrichosis of scalp, especially anteriorly

Head And Neck Nose:
low insertion of columella

Skin Nails Hair Skin Electron Microscopy:
flattened and partially absent cuticular scales

Head And Neck Eyes:
downslanting palpebral fissures

Head And Neck Ears:
normal hearing

Head And Neck Face:
square chin
long oval face

Skin Nails Hair Hair:
hypotrichosis of scalp, especially anteriorly
hypertrichosis of chest (in 1 patient)
hypotrichosis of lower extremities (in 1 patient)

Skin Nails Hair Skin Histology:
paucity of scalp hair follicles

Clinical features from OMIM:

618180

Drugs & Therapeutics for Ectodermal Dysplasia 14, Hair/tooth Type with or Without...

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia 14, Hair/tooth Type with or Without Hypohidrosis

Genetic Tests for Ectodermal Dysplasia 14, Hair/tooth Type with or Without...

Anatomical Context for Ectodermal Dysplasia 14, Hair/tooth Type with or Without...

Publications for Ectodermal Dysplasia 14, Hair/tooth Type with or Without...

Variations for Ectodermal Dysplasia 14, Hair/tooth Type with or Without...

ClinVar genetic disease variations for Ectodermal Dysplasia 14, Hair/tooth Type with or Without Hypohidrosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TSPEAR NM_144991.2(TSPEAR): c.1915G> A (p.Asp639Asn) single nucleotide variant Benign rs138480801 GRCh38 Chromosome 21, 44499878: 44499878
2 TSPEAR NM_144991.2(TSPEAR): c.1915G> A (p.Asp639Asn) single nucleotide variant Benign rs138480801 GRCh37 Chromosome 21, 45919761: 45919761
3 TSPEAR NM_144991.2(TSPEAR): c.1852T> A (p.Tyr618Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 21, 44504784: 44504784
4 TSPEAR NM_144991.2(TSPEAR): c.1852T> A (p.Tyr618Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 21, 45924667: 45924667

Expression for Ectodermal Dysplasia 14, Hair/tooth Type with or Without...

Search GEO for disease gene expression data for Ectodermal Dysplasia 14, Hair/tooth Type with or Without Hypohidrosis.

Pathways for Ectodermal Dysplasia 14, Hair/tooth Type with or Without...

GO Terms for Ectodermal Dysplasia 14, Hair/tooth Type with or Without...

Sources for Ectodermal Dysplasia 14, Hair/tooth Type with or Without...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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