ECTD14
MCID: ECT110
MIFTS: 20

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 57 12 72 29 6
Ectd14 57 72
Ectodermal Dysplasia 14 12
Ectn14 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable degree of scalp hypotrichosis


HPO:

31
ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111662
OMIM® 57 618180
OMIM Phenotypic Series 57 PS305100
MeSH 44 D004476

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

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-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) (Updated 20-May-2021)

MalaCards based summary : Ectodermal Dysplasia 14, Hair/tooth Type with or Without Hypohidrosis, also known as ectd14, is related to deafness, autosomal recessive 98 and autosomal recessive non-syndromic sensorineural deafness type dfnb. 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). Related phenotypes are hypohidrosis and thick vermilion border

Disease Ontology : 12 An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has material basis in homozygous or compound heterozygous mutation in TSPEAR on chromosome 21q22.3.

UniProtKB/Swiss-Prot : 72 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...

Diseases related to Ectodermal Dysplasia 14, Hair/tooth Type with or Without Hypohidrosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 98 9.6 TSPEAR-AS1 TSPEAR
2 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.5 TSPEAR-AS1 TSPEAR

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

Human phenotypes related to Ectodermal Dysplasia 14, Hair/tooth Type with or Without Hypohidrosis:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hypohidrosis 31 very rare (1%) HP:0000966
2 thick vermilion border 31 HP:0012471
3 downslanted palpebral fissures 31 HP:0000494
4 hypodontia 31 HP:0000668
5 conical tooth 31 HP:0000698
6 oval face 31 HP:0000300
7 low insertion of columella 31 HP:0010763

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Teeth:
hypodontia
conical teeth

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 Electron Microscopy:
flattened and partially absent cuticular scales

Head And Neck Nose:
low insertion of columella

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

Skin Nails Hair Skin Histology:
paucity of scalp hair follicles

Clinical features from OMIM®:

618180 (Updated 20-May-2021)

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...

Genetic tests related to Ectodermal Dysplasia 14, Hair/tooth Type with or Without Hypohidrosis:

# Genetic test Affiliating Genes
1 Ectodermal Dysplasia 14, Hair/tooth Type with or Without Hypohidrosis 29 TSPEAR

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

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

Articles related to Ectodermal Dysplasia 14, Hair/tooth Type with or Without Hypohidrosis:

# Title Authors PMID Year
1
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 57 6
27736875 2016

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 Name Type Significance ClinVarId dbSNP ID Position
1 TSPEAR NM_144991.3(TSPEAR):c.1852T>A (p.Tyr618Asn) SNV Pathogenic 590273 rs781868760 GRCh37: 21:45924667-45924667
GRCh38: 21:44504784-44504784
2 TSPEAR NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) SNV Pathogenic 227135 rs138480801 GRCh37: 21:45919761-45919761
GRCh38: 21:44499878-44499878
3 TSPEAR NM_144991.3(TSPEAR):c.789T>G (p.Tyr263Ter) SNV Pathogenic 1030229 GRCh37: 21:45949682-45949682
GRCh38: 21:44529799-44529799
4 TSPEAR-AS1 , TSPEAR NM_144991.3(TSPEAR):c.1726_1728delinsTT (p.Val576fs) Indel Likely pathogenic 584443 rs1569151872 GRCh37: 21:45929108-45929110
GRCh38: 21:44509225-44509227

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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