ECTD4
MCID: ECT067
MIFTS: 34

Ectodermal Dysplasia 4, Hair/nail Type (ECTD4)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin 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 58 76 13
Ectodermal Dysplasia, 'pure' Hair-Nail Type 30 6
Ectd4 58 76
Ectodermal Dysplasia, 'pure' Hair/nail Type 58
Ectodermal Dysplasia, Pure Hair-Nail Type 74
Ectodermal Dysplasia Pure Hair-Nail Type 76
Dysplasia, Ectodermal, Type 4, Hair/nail 41
Pure Hair and Nail Ectodermal Dysplasia 60
Ectodermal Dysplasia, Hair-Nail Type 38
Hair-Nail Ectodermal Dysplasia 60
Phned 60
Hned 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive

Miscellaneous:
three families described (last curated january 2014)


HPO:

33
ectodermal dysplasia 4, hair/nail type:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 602032
KEGG 38 H00649
MeSH 45 D004476
UMLS via Orphanet 75 C1865951
Orphanet 60 ORPHA69084
MedGen 43 C1865951
UMLS 74 C1865951

Summaries for Ectodermal Dysplasia 4, Hair/nail Type

UniProtKB/Swiss-Prot : 76 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 lacrimal duct obstruction. 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 eye, and related phenotypes are sparse body hair and nail dystrophy

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 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

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

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

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 sparse body hair 33 occasional (7.5%) HP:0002231
2 nail dystrophy 33 HP:0008404
3 alopecia 33 HP:0001596
4 absent eyelashes 33 HP:0000561
5 onycholysis 33 HP:0001806
6 pili torti 33 HP:0003777
7 absent eyebrow 33 HP:0002223
8 brittle hair 33 HP:0002299
9 congenital onychodystrophy 33 HP:0008394
10 temporal hypotrichosis 33 HP:0004524
11 hair-nail ectodermal dysplasia 33 HP:0007436

Symptoms via clinical synopsis from OMIM:

58
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

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

27
# 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 30 KRT85

Anatomical Context for Ectodermal Dysplasia 4, Hair/nail Type

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

42
Skin, Eye

Publications for Ectodermal Dysplasia 4, Hair/nail Type

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

# Title Authors Year
1
An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction. ( 29278420 )
2018
2
A Novel Homozygous Missense Mutation in HOXC13 Leads to Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia. ( 28297138 )
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 )
2017
4
Autosomal recessive transmission of a rare HOXC13 variant causes pure hair and nail ectodermal dysplasia. ( 28543635 )
2017
5
A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family. ( 23315978 )
2013
6
Novel mutations in the gene HOXC13 underlying pure hair and nail ectodermal dysplasia in consanguineous families. ( 23461661 )
2013
7
Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia. ( 23063621 )
2012
8
Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia. ( 19865094 )
2010
9
Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation. ( 20409997 )
2010
10
A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. ( 16525032 )
2006

Variations for Ectodermal Dysplasia 4, Hair/nail Type

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

76
# 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 NM_002283.3(KRT85): c.233G> A (p.Arg78His) single nucleotide variant Benign rs61630004 GRCh37 Chromosome 12, 52760957: 52760957
2 KRT85 NM_002283.3(KRT85): c.233G> A (p.Arg78His) single nucleotide variant Benign rs61630004 GRCh38 Chromosome 12, 52367173: 52367173
3 KRT74 NM_175053.3(KRT74): c.821T> C (p.Phe274Ser) single nucleotide variant Benign rs147962513 GRCh37 Chromosome 12, 52965165: 52965165
4 KRT74 NM_175053.3(KRT74): c.821T> C (p.Phe274Ser) single nucleotide variant Benign rs147962513 GRCh38 Chromosome 12, 52571381: 52571381
5 KRT85 NM_002283.3(KRT85): c.1448_1449delCT (p.Pro483Argfs) deletion Pathogenic GRCh38 Chromosome 12, 52360928: 52360929
6 KRT85 NM_002283.3(KRT85): c.1448_1449delCT (p.Pro483Argfs) deletion Pathogenic GRCh37 Chromosome 12, 52754712: 52754713

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 8.32 KRT85

Sources for Ectodermal Dysplasia 4, Hair/nail Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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