ECTD13
MCID: ECT095
MIFTS: 19

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 56 12 73 29 6
Ectd13 56 12 73
Ectodermal Dysplasia 13 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
ectodermal dysplasia 13, hair/tooth type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111650
OMIM 56 617392
OMIM Phenotypic Series 56 PS305100
MeSH 43 D004476

Summaries for Ectodermal Dysplasia 13, Hair/tooth 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-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 depressed nasal bridge and hypertelorism

Disease Ontology : 12 An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has material basis in homozygous or compound heterozygous mutation in KREMEN1 on chromosome 22q12.1.

UniProtKB/Swiss-Prot : 73 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:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 depressed nasal bridge 31 occasional (7.5%) HP:0005280
2 hypertelorism 31 occasional (7.5%) HP:0000316
3 wide nasal bridge 31 occasional (7.5%) HP:0000431
4 thick vermilion border 31 occasional (7.5%) HP:0012471
5 low anterior hairline 31 HP:0000294
6 sparse eyelashes 31 HP:0000653
7 oligodontia 31 HP:0000677
8 thin eyebrow 31 HP:0045074

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Hair:
low anterior hairline
thin eyelashes
thin eyebrows
fragile scalp hair
oily scalp hair
more
Head And Neck Mouth:
thick lips (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 Nose:
broad nasal bridge (in some patients)
low nasal bridge (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

Genetic tests related to Ectodermal Dysplasia 13, Hair/tooth Type:

# Genetic test Affiliating Genes
1 Ectodermal Dysplasia 13, Hair/tooth Type 29 KREMEN1

Anatomical Context for Ectodermal Dysplasia 13, Hair/tooth Type

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

40
Skin, Bone

Publications for Ectodermal Dysplasia 13, Hair/tooth Type

Articles related to Ectodermal Dysplasia 13, Hair/tooth Type:

# Title Authors PMID Year
1
Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families. 6 56
27049303 2016

Variations for Ectodermal Dysplasia 13, Hair/tooth Type

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

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KREMEN1 NM_001039570.3(KREMEN1):c.626T>C (p.Phe209Ser)SNV Pathogenic 393469 rs1057524917 22:29521399-29521399 22:29125411-29125411

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

73
# Symbol AA change Variation ID SNP ID
1 KREMEN1 p.Phe207Ser VAR_078807 rs105752491

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
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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