ECTD4
MCID: ECT067
MIFTS: 33

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 56 73 13
Ectodermal Dysplasia, 'pure' Hair-Nail Type 29 6
Ectd4 56 73
Ectodermal Dysplasia, 'pure' Hair/nail Type 56
Ectodermal Dysplasia, Pure Hair-Nail Type 71
Ectodermal Dysplasia Pure Hair-Nail Type 73
Dysplasia, Ectodermal, Type 4, Hair/nail 39
Pure Hair and Nail Ectodermal Dysplasia 58
Ectodermal Dysplasia, Hair-Nail Type 36
Hair-Nail Ectodermal Dysplasia 58
Phned 58
Hned 58

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal recessive

Miscellaneous:
three families described (last curated january 2014)


HPO:

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


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 602032
OMIM Phenotypic Series 56 PS305100
KEGG 36 H00649
MeSH 43 D004476
UMLS via Orphanet 72 C1865951
Orphanet 58 ORPHA69084
MedGen 41 C1865951
UMLS 71 C1865951

Summaries for Ectodermal Dysplasia 4, Hair/nail Type

UniProtKB/Swiss-Prot : 73 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 hypotrichosis 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 sparse body hair and absent eyelashes

OMIM : 56 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)

KEGG : 36 Ectodermal dysplasia (ECTD), hair-nail type is a rare condition involving only tissues of ectodermal origin. Patients show complete alopecia and primitive nails. Autosomal recessive type has previously been associated with mutations in either KRT85, KRT74 or HOXC13.

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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 sparse body hair 31 occasional (7.5%) HP:0002231
2 absent eyelashes 31 HP:0000561
3 alopecia 31 HP:0001596
4 absent eyebrow 31 HP:0002223
5 nail dystrophy 31 HP:0008404
6 pili torti 31 HP:0003777
7 onycholysis 31 HP:0001806
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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
absent eyelashes
absent eyebrows

Skin Nails Hair Nails:
onycholysis
onychodystrophy
micronychia

Skin Nails Hair Skin:
normal sweating

Neurologic Central Nervous System:
no mental retardation

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

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:

26
# 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 29 KRT85

Anatomical Context for Ectodermal Dysplasia 4, Hair/nail Type

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

40
Skin

Publications for Ectodermal Dysplasia 4, Hair/nail Type

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

(show all 14)
# Title Authors PMID Year
1
Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia. 56 6 61
19865094 2010
2
A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. 56 6
16525032 2006
3
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. 6 61
24714551 2014
4
A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family. 6 61
23315978 2013
5
Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia. 6 61
23063621 2012
6
Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation. 6 61
20409997 2010
7
Pili torti and onychodysplasia. Report of a previously undescribed hidrotic ectodermal dysplasia. 56
1879585 1991
8
Compound heterozygosity for novel KRT85 variants associated with pure hair and nail ectodermal dysplasia. 61
31273852 2019
9
The disrupted balance between hair follicles and sebaceous glands in Hoxc13-ablated rabbits. 61
30125135 2019
10
An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction. 61
29278420 2018
11
Autosomal recessive transmission of a rare HOXC13 variant causes pure hair and nail ectodermal dysplasia. 61
28543635 2017
12
A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family. 61
28403827 2017
13
A Novel Homozygous Missense Mutation in HOXC13 Leads to Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia. 61
28297138 2017
14
Novel mutations in the gene HOXC13 underlying pure hair and nail ectodermal dysplasia in consanguineous families. 61
23461661 2013

Variations for Ectodermal Dysplasia 4, Hair/nail Type

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

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KRT85 NM_002283.4(KRT85):c.1448_1449del (p.Pro483fs)deletion Pathogenic 102444 rs1565766888 12:52754712-52754713 12:52360928-52360929
2 KRT85 NM_002283.4(KRT85):c.823T>C (p.Ser275Pro)SNV Uncertain significance 638425 12:52757158-52757158 12:52363374-52363374
3 KRT85 NM_002283.4(KRT85):c.233G>A (p.Arg78His)SNV Benign 6836 rs61630004 12:52760957-52760957 12:52367173-52367173
4 KRT74 NM_175053.4(KRT74):c.821T>C (p.Phe274Ser)SNV Benign 96741 rs147962513 12:52965165-52965165 12:52571381-52571381

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

73
# Symbol AA change Variation ID SNP ID
1 KRT85 p.Arg78His VAR_029657 rs61630004

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 KRT85 KRT74

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 KRT85 KRT74
2 keratin filament GO:0045095 8.62 KRT85 KRT74

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 KRT85 KRT74
2 cornification GO:0070268 8.62 KRT85 KRT74

Sources for Ectodermal Dysplasia 4, Hair/nail Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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