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

Sources

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 ⁵⁷ ⁷⁵ ⁶

Ectd13 ⁵⁷ ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

HPO:

³²

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

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 617392

MedGen ⁴² C4479322 CN240911

MeSH ⁴⁴ D004476

SNOMED-CT via HPO ⁶⁹ 258211005 194021007 22006008 more

Sources

Summaries for Ectodermal Dysplasia 13, Hair/tooth Type

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-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 low anterior hairline and hypertelorism

UniProtKB/Swiss-Prot : ⁷⁵ 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.

Sources

Related Diseases for Ectodermal Dysplasia 13, Hair/tooth Type

Sources

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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

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

³² (show all 7)

#	Description	HPO Frequency	HPO Source Accession
1	low anterior hairline ³²		HP:0000294
2	hypertelorism ³²	occasional (7.5%)	HP:0000316
3	wide nasal bridge ³²	occasional (7.5%)	HP:0000431
4	sparse eyelashes ³²		HP:0000653
5	depressed nasal bridge ³²	occasional (7.5%)	HP:0005280
6	thick vermilion border ³²	occasional (7.5%)	HP:0012471
7	thin eyebrow ³²		HP:0045074

Sources

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

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

Sources

Genetic Tests for Ectodermal Dysplasia 13, Hair/tooth Type

Sources

Anatomical Context for Ectodermal Dysplasia 13, Hair/tooth Type

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

⁴¹

Skin, Bone

Sources

Publications for Ectodermal Dysplasia 13, Hair/tooth Type

Sources

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	1228.63	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ GeneCards inferred via : Disorders Variants (show sections)	27049303

Sources

Variations for Ectodermal Dysplasia 13, Hair/tooth Type

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

⁷⁵

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

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

Sources

Expression for Ectodermal Dysplasia 13, Hair/tooth Type

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

Sources

Pathways for Ectodermal Dysplasia 13, Hair/tooth Type

Sources

GO Terms for Ectodermal Dysplasia 13, Hair/tooth Type

Sources

Sources for Ectodermal Dysplasia 13, Hair/tooth Type

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia