Ectodermal Dysplasia 13, Hair/tooth Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 617392

MeSH ⁴⁵ D004476

MedGen ⁴³ C4479322 CN240911

SNOMED-CT via HPO ⁷⁰ 194021007 22006008 249321001 more

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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.

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Related Diseases for Ectodermal Dysplasia 13, Hair/tooth Type

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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

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

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

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Genetic Tests for Ectodermal Dysplasia 13, Hair/tooth Type

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Anatomical Context for Ectodermal Dysplasia 13, Hair/tooth Type

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

⁴²

Skin, Bone

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Publications for Ectodermal Dysplasia 13, Hair/tooth Type

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

#	Title	Authors	Year
1	Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families. ( 27049303 )	Issa YA...Kanaan M	2016

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Genes for Ectodermal Dysplasia 13, Hair/tooth Type

Genes related to Ectodermal Dysplasia 13, Hair/tooth Type (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KREMEN1	Kringle Containing Transmembrane Protein 1	Protein Coding	1228.47	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ GeneCards inferred via : Disorders Variants (show sections)	27049303

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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

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Expression for Ectodermal Dysplasia 13, Hair/tooth Type

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

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Pathways for Ectodermal Dysplasia 13, Hair/tooth Type

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GO Terms for Ectodermal Dysplasia 13, Hair/tooth Type

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⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Ectodermal Dysplasia 13, Hair/tooth Type (ECTD13)

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

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Ectodermal Dysplasia 13, Hair/tooth Type

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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

Publications for Ectodermal Dysplasia 13, Hair/tooth Type

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

Genes for Ectodermal Dysplasia 13, Hair/tooth Type

Genes related to Ectodermal Dysplasia 13, Hair/tooth Type (1 elite genes):

Variations for Ectodermal Dysplasia 13, Hair/tooth Type

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

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

Expression 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