MCID: ECT067
MIFTS: 34

Ectodermal Dysplasia 4, Hair/nail Type

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

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 53 71 13
Ectodermal Dysplasia, Pure Hair-Nail Type 36 69
Ectd4 53 71
Ectodermal Dysplasia, 'pure' Hair/nail Type 53
Ectodermal Dysplasia, 'pure' Hair-Nail Type 28
Ectodermal Dysplasia Pure Hair-Nail Type 71
Pure Hair and Nail Ectodermal Dysplasia 55
Hair-Nail Ectodermal Dysplasia 55
Phned 55
Hned 55

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal recessive

Miscellaneous:
three families described (last curated january 2014)


HPO:

31
ectodermal dysplasia 4, hair/nail type:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 602032
Orphanet 55 ORPHA69084
UMLS via Orphanet 70 C1865951
MedGen 39 C1865951
MeSH 41 D004476
KEGG 36 H00649
UMLS 69 C1865951

Summaries for Ectodermal Dysplasia 4, Hair/nail Type

UniProtKB/Swiss-Prot : 71 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, 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 : 53 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)

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 29.2 HOXC13 KRT74 KRT85
2 ectodermal dysplasia 10.6
3 ectodermal dysplasia 9, hair/nail type 10.1
4 hypotrichosis 9.5 HOXC13 KRT74
5 hair disease 9.3 HOXC13 KRT74 KRT85

Graphical network of the top 20 diseases related to Ectodermal Dysplasia 4, Hair/nail Type:



Diseases related to Ectodermal Dysplasia 4, Hair/nail Type

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

Symptoms via clinical synopsis from OMIM:

53
SkinNailsHairHair:
alopecia
brittle hair (in some patients)
pili torti (in some patients)
sparse body hair (in some patients)
absent body hair

SkinNailsHairNails:
onycholysis
onychodystrophy
micronychia

SkinNailsHairSkin:
normal sweating

NeurologicCentralNervousSystem:
no mental retardation

HeadAndNeckEyes:
absent eyelashes
absent eyebrows

HeadAndNeckTeeth:
normal teeth

MetabolicFeatures:
normal sweating


Clinical features from OMIM:

602032

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

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 31 HP:0008404
2 alopecia 31 HP:0001596
3 sparse body hair 31 occasional (7.5%) HP:0002231
4 absent eyelashes 31 HP:0000561
5 onycholysis 31 HP:0001806
6 pili torti 31 HP:0003777
7 absent eyebrow 31 HP:0002223
8 brittle hair 31 HP:0002299
9 congenital onychodystrophy 31 HP:0008394
10 temporal hypotrichosis 31 HP:0004524
11 hair-nail ectodermal dysplasia 31 HP:0007436

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with paclitaxel GR00054-A 8.62 HOXC13 KRT74

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:

# Genetic test Affiliating Genes
1 Ectodermal Dysplasia, 'pure' Hair-Nail Type 28 KRT85

Anatomical Context for Ectodermal Dysplasia 4, Hair/nail Type

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

38
Skin

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 )
2017
2
A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family. ( 28403827 )
2017
3
An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction. ( 29278420 )
2017
4
A novel homozygous missense mutation in HOXC13 leads to autosomal recessive pure hair and nail ectodermal dysplasia. ( 28297138 )
2017
5
Novel mutations in the gene HOXC13 underlying pure hair and nail ectodermal dysplasia in consanguineous families. ( 23461661 )
2013
6
A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family. ( 23315978 )
2013
7
Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia. ( 23063621 )
2012
8
Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation. ( 20409997 )
2010
9
Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia. ( 19865094 )
2010

Variations for Ectodermal Dysplasia 4, Hair/nail Type

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

71
# 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

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:

# 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:

# 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

Sources for Ectodermal Dysplasia 4, Hair/nail Type

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