Ectodermal Dysplasia 4, Hair/nail Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Ectodermal Dysplasia 4, Hair/nail Type

MalaCards integrated aliases for Ectodermal Dysplasia 4, Hair/nail Type:

Name: Ectodermal Dysplasia 4, Hair/nail Type ⁵⁷ ⁷⁵ ¹³

Ectodermal Dysplasia, 'pure' Hair-Nail Type ²⁹ ⁶

Ectodermal Dysplasia, Pure Hair-Nail Type ³⁷ ⁷³

Ectd4 ⁵⁷ ⁷⁵

Ectodermal Dysplasia, 'pure' Hair/nail Type ⁵⁷

Ectodermal Dysplasia Pure Hair-Nail Type ⁷⁵

Dysplasia, Ectodermal, Type 4, Hair/nail ⁴⁰

Pure Hair and Nail Ectodermal Dysplasia ⁵⁹

Hair-Nail Ectodermal Dysplasia ⁵⁹

Phned ⁵⁹

Hned ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

pure hair and nail ectodermal dysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
three families described (last curated january 2014)

HPO:

³²

ectodermal dysplasia 4, hair/nail type:
Inheritance autosomal recessive inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 602032

Orphanet ⁵⁹ ORPHA69084

UMLS via Orphanet ⁷⁴ C1865951

MedGen ⁴² C1865951

MeSH ⁴⁴ D004476

KEGG ³⁷ H00649

SNOMED-CT via HPO ⁶⁹ 263681008 258211005 278040002 more

UMLS ⁷³ C1865951

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Summaries for Ectodermal Dysplasia 4, Hair/nail Type

UniProtKB/Swiss-Prot : ⁷⁵ Ectodermal dysplasia 4, hair/nail type: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD4 is characterized by complete alopecia, hypotricosis and nail dystrophy in all digits. There is no evidence of any other abnormality. Inheritance can be autosomal dominant or recessive.

MalaCards based summary : Ectodermal Dysplasia 4, Hair/nail Type, also known as ectodermal dysplasia, 'pure' hair-nail type, is related to lacrimal duct obstruction and ectodermal dysplasia. An important gene associated with Ectodermal Dysplasia 4, Hair/nail Type is KRT85 (Keratin 85), and among its related pathways/superpathways is Keratinization. Affiliated tissues include skin, and related phenotypes are absent eyelashes and alopecia

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 of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. (602032)

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Related Diseases for Ectodermal Dysplasia 4, Hair/nail Type

Diseases in the Ectodermal Dysplasia 4, Hair/nail Type family:

Ectodermal Dysplasia 5, Hair/nail Type	Ectodermal Dysplasia 6, Hair/nail Type
Ectodermal Dysplasia 7, Hair/nail Type	Ectodermal Dysplasia 9, Hair/nail Type

Diseases related to Ectodermal Dysplasia 4, Hair/nail Type via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	lacrimal duct obstruction	29.6	HOXC13 KRT85
2	ectodermal dysplasia	29.5	HOXC13 KRT74 KRT85
3	hair disease	9.7	KRT74 KRT85
4	hypotrichosis	9.2	HOXC13 KRT74

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Symptoms & Phenotypes for Ectodermal Dysplasia 4, Hair/nail Type

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skin Nails Hair Hair:
alopecia
brittle hair (in some patients)
pili torti (in some patients)
sparse body hair (in some patients)
absent body hair

Skin Nails Hair Nails:
onycholysis
onychodystrophy
micronychia

Skin Nails Hair Skin:
normal sweating

Neurologic Central Nervous System:
no mental retardation

Head And Neck Eyes:
absent eyelashes
absent eyebrows

Head And Neck Teeth:
normal teeth

Metabolic Features:
normal sweating

Clinical features from OMIM:

602032

Human phenotypes related to Ectodermal Dysplasia 4, Hair/nail Type:

³² (show all 11)

#	Description	HPO Frequency	HPO Source Accession
1	absent eyelashes ³²		HP:0000561
2	alopecia ³²		HP:0001596
3	onycholysis ³²		HP:0001806
4	absent eyebrow ³²		HP:0002223
5	sparse body hair ³²	occasional (7.5%)	HP:0002231
6	brittle hair ³²		HP:0002299
7	pili torti ³²		HP:0003777
8	temporal hypotrichosis ³²		HP:0004524
9	hair-nail ectodermal dysplasia ³²		HP:0007436
10	congenital onychodystrophy ³²		HP:0008394
11	nail dystrophy ³²		HP:0008404

GenomeRNAi Phenotypes related to Ectodermal Dysplasia 4, Hair/nail Type according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability with paclitaxel	GR00054-A	8.62	HOXC13 KRT74

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Drugs & Therapeutics for Ectodermal Dysplasia 4, Hair/nail Type

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia 4, Hair/nail Type

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Genetic Tests for Ectodermal Dysplasia 4, Hair/nail Type

Genetic tests related to Ectodermal Dysplasia 4, Hair/nail Type:

#	Genetic test	Affiliating Genes
1	Ectodermal Dysplasia, 'pure' Hair-Nail Type ²⁹	KRT85

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Anatomical Context for Ectodermal Dysplasia 4, Hair/nail Type

MalaCards organs/tissues related to Ectodermal Dysplasia 4, Hair/nail Type:

⁴¹

Skin

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Publications for Ectodermal Dysplasia 4, Hair/nail Type

Articles related to Ectodermal Dysplasia 4, Hair/nail Type:

#	Title	Authors	Year
1	Autosomal recessive transmission of a rare HOXC13 variant causes pure hair and nail ectodermal dysplasia. ( 28543635 )	Mehmood S....Ahmad W.	2017
2	A novel homozygous missense mutation in HOXC13 leads to autosomal recessive pure hair and nail ectodermal dysplasia. ( 28297138 )	Li X....Glass D.A. II	2017
3	A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family. ( 28403827 )	Khan A.K....Khan S.	2017
4	An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction. ( 29278420 )	Humbatova A....Betz R.C.	2017
5	A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family. ( 23315978 )	Farooq M....Shimomura Y.	2013
6	Novel mutations in the gene HOXC13 underlying pure hair and nail ectodermal dysplasia in consanguineous families. ( 23461661 )	Ali R.H....Ahmad W.	2013
7	Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia. ( 23063621 )	Lin Z....Yang Y.	2012
8	Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation. ( 20409997 )	Rasool M....Dahl N.	2010
9	Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia. ( 19865094 )	Shimomura Y....Christiano A.M.	2010

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Genes for Ectodermal Dysplasia 4, Hair/nail Type

Genes related to Ectodermal Dysplasia 4, Hair/nail Type (5 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KRT85	Keratin 85	Protein Coding	1678.32	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	19865094 16525032
2	KRT74	Keratin 74	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
3	HOXC13	Homeobox C13	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
4	ECTD6	Ectodermal Dysplasia 6, Hair/Nail Type	Genetic Locus	50	MalaCards inferred ⁵⁷
5	ECTD5	Ectodermal Dysplasia 5, Hair/Nail Type	Genetic Locus	50	MalaCards inferred ⁵⁷

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Variations for Ectodermal Dysplasia 4, Hair/nail Type

UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia 4, Hair/nail Type:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	KRT85	p.Arg78His	VAR_029657	rs61630004

ClinVar genetic disease variations for Ectodermal Dysplasia 4, Hair/nail Type:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	KRT85	KRT85, 2-BP DEL, 1448CT	deletion	Pathogenic

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Expression for Ectodermal Dysplasia 4, Hair/nail Type

Search GEO for disease gene expression data for Ectodermal Dysplasia 4, Hair/nail Type.

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Pathways for Ectodermal Dysplasia 4, Hair/nail Type

Pathways related to Ectodermal Dysplasia 4, Hair/nail Type according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Keratinization ⁶⁶ Show member pathways Formation of the cornified envelope ⁶⁶	11.08	KRT74 KRT85

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GO Terms for Ectodermal Dysplasia 4, Hair/nail Type

Cellular components related to Ectodermal Dysplasia 4, Hair/nail Type according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	intermediate filament	GO:0005882	8.96	KRT74 KRT85
2	keratin filament	GO:0045095	8.62	KRT74 KRT85

Biological processes related to Ectodermal Dysplasia 4, Hair/nail Type according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	keratinization	GO:0031424	8.96	KRT74 KRT85
2	cornification	GO:0070268	8.62	KRT74 KRT85

Molecular functions related to Ectodermal Dysplasia 4, Hair/nail Type according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	structural molecule activity	GO:0005198	8.62	KRT74 KRT85

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Sources for Ectodermal Dysplasia 4, Hair/nail Type

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⁴¹ MalaCards

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⁵⁷ OMIM

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⁵⁹ Orphanet

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⁶⁵ R&D Systems

⁶⁶ Reactome

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⁶⁸ SNOMED-CT

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⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia