ECTD4
MCID: ECT067
MIFTS: 35

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 57 75 13
Ectodermal Dysplasia, 'pure' Hair-Nail Type 29 6
Ectd4 57 75
Ectodermal Dysplasia, 'pure' Hair/nail Type 57
Ectodermal Dysplasia, Pure Hair-Nail Type 73
Ectodermal Dysplasia Pure Hair-Nail Type 75
Dysplasia, Ectodermal, Type 4, Hair/nail 40
Pure Hair and Nail Ectodermal Dysplasia 59
Ectodermal Dysplasia, Hair-Nail Type 37
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:



External Ids:

OMIM 57 602032
Orphanet 59 ORPHA69084
UMLS via Orphanet 74 C1865951
MedGen 42 C1865951
MeSH 44 D004476
KEGG 37 H00649
UMLS 73 C1865951

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 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 nail dystrophy 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)

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 ectodermal dysplasia 30.6 HOXC13 KRT74 KRT85
2 lacrimal duct obstruction 30.1 HOXC13 KRT85
3 hypotrichosis 9.8 HOXC13 KRT74
4 hair disease 9.7 HOXC13 KRT74 KRT85

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 nail dystrophy 32 HP:0008404
2 alopecia 32 HP:0001596
3 sparse body hair 32 occasional (7.5%) 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 congenital onychodystrophy 32 HP:0008394
10 temporal hypotrichosis 32 HP:0004524
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
# 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:

41
Skin, Eye

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 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
An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction. ( 29278420 )
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
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:

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 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 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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