ECTD13
MCID: ECT095
MIFTS: 16

Ectodermal Dysplasia 13, Hair/tooth Type (ECTD13)

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Ectodermal Dysplasia 13, Hair/tooth Type

MalaCards integrated aliases for Ectodermal Dysplasia 13, Hair/tooth Type:

Name: Ectodermal Dysplasia 13, Hair/tooth Type 58 76 6
Ectd13 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
ectodermal dysplasia 13, hair/tooth type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 617392
MeSH 45 D004476

Summaries for Ectodermal Dysplasia 13, Hair/tooth Type

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-13 of the hair/tooth type is characterized by severe oligodontia accompanied by anomalies of hair and skin (Issa et al., 2016). (617392)

MalaCards based summary : Ectodermal Dysplasia 13, Hair/tooth Type, is also known as ectd13. An important gene associated with Ectodermal Dysplasia 13, Hair/tooth Type is KREMEN1 (Kringle Containing Transmembrane Protein 1). Affiliated tissues include skin and bone, and related phenotypes are hypertelorism and depressed nasal bridge

UniProtKB/Swiss-Prot : 76 Ectodermal dysplasia 13, hair/tooth type: A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD13 is an autosomal recessive form characterized by severe oligodontia accompanied by anomalies of hair and skin.

Related Diseases for Ectodermal Dysplasia 13, Hair/tooth Type

Symptoms & Phenotypes for Ectodermal Dysplasia 13, Hair/tooth Type

Human phenotypes related to Ectodermal Dysplasia 13, Hair/tooth Type:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 occasional (7.5%) HP:0000316
2 depressed nasal bridge 33 occasional (7.5%) HP:0005280
3 wide nasal bridge 33 occasional (7.5%) HP:0000431
4 thick vermilion border 33 occasional (7.5%) HP:0012471
5 low anterior hairline 33 HP:0000294
6 sparse eyelashes 33 HP:0000653
7 oligodontia 33 HP:0000677
8 thin eyebrow 33 HP:0045074

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Hair:
low anterior hairline
thin eyelashes
thin eyebrows
fragile scalp hair
oily scalp hair
more
Head And Neck Nose:
broad nasal bridge (in some patients)
low nasal bridge (in some patients)

Head And Neck Face:
abnormal hair on face and forehead

Skin Nails Hair Skin:
soft, glossy, and thin facial skin

Head And Neck Eyes:
hypertelorism (in some patients)

Head And Neck Mouth:
thick lips (in some patients)

Head And Neck Teeth:
oligodontia, primary and secondary dentition (8 to 20 teeth missing)
missing upper lateral incisors
missing lower anterior teeth
thin alveolar bone (in some patients)
increased palatal depth (in some patients)

Clinical features from OMIM:

617392

Drugs & Therapeutics for Ectodermal Dysplasia 13, Hair/tooth Type

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia 13, Hair/tooth Type

Genetic Tests for Ectodermal Dysplasia 13, Hair/tooth Type

Anatomical Context for Ectodermal Dysplasia 13, Hair/tooth Type

MalaCards organs/tissues related to Ectodermal Dysplasia 13, Hair/tooth Type:

42
Skin, Bone

Publications for Ectodermal Dysplasia 13, Hair/tooth Type

Variations for Ectodermal Dysplasia 13, Hair/tooth Type

UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia 13, Hair/tooth Type:

76
# Symbol AA change Variation ID SNP ID
1 KREMEN1 p.Phe207Ser VAR_078807 rs105752491

ClinVar genetic disease variations for Ectodermal Dysplasia 13, Hair/tooth Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KREMEN1 NM_032045.4(KREMEN1): c.626T> C (p.Phe209Ser) single nucleotide variant Pathogenic rs1057524917 GRCh37 Chromosome 22, 29521399: 29521399
2 KREMEN1 NM_032045.4(KREMEN1): c.626T> C (p.Phe209Ser) single nucleotide variant Pathogenic rs1057524917 GRCh38 Chromosome 22, 29125411: 29125411

Expression for Ectodermal Dysplasia 13, Hair/tooth Type

Search GEO for disease gene expression data for Ectodermal Dysplasia 13, Hair/tooth Type.

Pathways for Ectodermal Dysplasia 13, Hair/tooth Type

GO Terms for Ectodermal Dysplasia 13, Hair/tooth Type

Sources for Ectodermal Dysplasia 13, Hair/tooth Type

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
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
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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