ECTD4
MCID: ECT067
MIFTS: 26

Ectodermal Dysplasia 4, Hair/nail Type (ECTD4) malady

Categories: Genetic diseases, Skin diseases, Fetal diseases, Rare diseases

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

Aliases & Descriptions for Ectodermal Dysplasia 4, Hair/nail Type:

Name: Ectodermal Dysplasia 4, Hair/nail Type 54 24 66 13
Ectodermal Dysplasia Pure Hair-Nail Type 66 29
Ectd4 24 66
Ectodermal Dysplasia, Pure Hair-Nail Type 69
Pure Hair and Nail Ectodermal Dysplasia 56
Hair-Nail Ectodermal Dysplasia 56
Phned 56
Hned 56

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
ectodermal dysplasia 4, hair/nail type:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 602032
Orphanet 56 ORPHA69084
MedGen 40 C1865951
MeSH 42 D004476

Summaries for Ectodermal Dysplasia 4, Hair/nail Type

UniProtKB/Swiss-Prot : 66 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 ectodermal dysplasia and pyoderma, and has symptoms including nail dystrophy, alopecia and sparse body hair. 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 phenotype is Decreased viability with paclitaxel.

OMIM : 54 Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or... (602032) more...

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

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

id Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 10.4
2 pyoderma 9.8 HOXC13 KRT74
3 anemia, hypochromic microcytic 9.5 HOXC13 KRT74 KRT85

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

Symptoms by clinical synopsis from OMIM:

602032

Clinical features from OMIM:

602032

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

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

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with paclitaxel GR00054-A 8.62 KRT74 HOXC13

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

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

Genetic Tests for Ectodermal Dysplasia 4, Hair/nail Type

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

id Genetic test Affiliating Genes
1 Ectodermal Dysplasia, 'pure' Hair-Nail Type 29
2 Ectodermal Dysplasia 4, Hair/nail Type 24 KRT85

Anatomical Context for Ectodermal Dysplasia 4, Hair/nail Type

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

39
Skin

Publications for Ectodermal Dysplasia 4, Hair/nail Type

Variations for Ectodermal Dysplasia 4, Hair/nail Type

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

66
id 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
id Gene Variation Type Significance SNP ID Assembly Location
1 KRT85 KRT85, 2-BP DEL, 1448CT deletion Pathogenic

Expression for Ectodermal Dysplasia 4, Hair/nail Type

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

Pathways for Ectodermal Dysplasia 4, Hair/nail Type

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.08 KRT74 KRT85

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:

id 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:

id 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:

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

Sources for Ectodermal Dysplasia 4, Hair/nail Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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