ECTD7
MCID: ECT065
MIFTS: 31

Ectodermal Dysplasia 7, Hair/nail Type (ECTD7)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Ectodermal Dysplasia 7, Hair/nail Type

MalaCards integrated aliases for Ectodermal Dysplasia 7, Hair/nail Type:

Name: Ectodermal Dysplasia 7, Hair/nail Type 57 11 73 28 5 71
Ectd7 57 11 73
Ectodermal Dysplasia 7 11 14
Dysplasia, Ectodermal, Type 7, Hair/nail 38

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
two pakistani families reported (last curated july 2014)


Classifications:



External Ids:

Disease Ontology 11 DOID:0111660
OMIM® 57 614929
OMIM Phenotypic Series 57 PS305100
MeSH 43 D004476
UMLS 71 C3554117

Summaries for Ectodermal Dysplasia 7, Hair/nail Type

UniProtKB/Swiss-Prot: 73 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. Ectodermal dysplasia of the hair/nail type is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations.

MalaCards based summary: Ectodermal Dysplasia 7, Hair/nail Type, also known as ectd7, is related to woolly hair, autosomal dominant and naegeli-franceschetti-jadassohn syndrome. An important gene associated with Ectodermal Dysplasia 7, Hair/nail Type is KRT74 (Keratin 74), and among its related pathways/superpathways is Hair follicle development: cytodifferentiation - part 3 of 3. Affiliated tissues include skin, and related phenotypes are sparse scalp hair and dystrophic toenail

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. (614929) (Updated 08-Dec-2022)

Disease Ontology: 11 A pure hair and nail ectodermal dysplasia that has material basis in homozygous or compound heterozygous mutation in KRT74 on chromosome 12q13.13.

Related Diseases for Ectodermal Dysplasia 7, 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 7, Hair/nail Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 woolly hair, autosomal dominant 10.2 KRT85 KRT74
2 naegeli-franceschetti-jadassohn syndrome 10.1 KRT85 KRT74
3 hypotrichosis 7 10.1 KRT74 DSG4
4 hypotrichosis 4 10.1 KRT74 HOXC13
5 hypotrichosis 11 10.1 KRT74 DSG4
6 hypotrichosis 13 10.1 KRT74 DSG4
7 ectodermal dysplasia 10.1 KRT85 KRT74 HOXC13
8 white sponge nevus 1 10.0 KRT85 KRT74
9 hypotrichosis 6 10.0 KRT85 KRT74 DSG4
10 hypotrichosis 10.0 KRT74 HOXC13 DSG4
11 hypotrichosis 8 10.0 KRT85 KRT74 DSG4
12 preaxial deficiency, postaxial polydactyly, and hypospadias 10.0 HOXC13 HOXA13
13 atrichia with papular lesions 9.9 KRT74 FOXN1 DSG4
14 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 9.9 HOXC13 FOXN1 DSG4
15 hypotrichosis 2 9.9 KRT74 FOXN1 DSG4
16 hand-foot-genital syndrome 9.9 HOXC13 HOXA13
17 familial woolly hair syndrome 9.9 KRT85 KRT74 HOXC13 DSG4
18 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.9 KRT85 KRT74
19 epiphyseal dysplasia, multiple, with myopia and conductive deafness 9.9 SMAD9 DACT1
20 microcephaly and chorioretinopathy 1 9.9 TBL1X SMAD9
21 hair disease 9.8 KRT74 HOXC13 FOXN1 DSG4
22 ectodermal dysplasia 9, hair/nail type 9.7 KRT85 KRT74 HOXC13 FOXN1 CRISP1
23 methylmalonic aciduria, cbla type 9.7 TBL1X ENO1
24 ectodermal dysplasia 4, hair/nail type 9.7 KRT85 KRT74 HOXC13 FOXN1 DSG4
25 monilethrix 9.7 KRT85 KRT74 HOXC13 FOXN1 DSG4
26 ectodermal dysplasia 6, hair/nail type 7.8 TBL1X SMAD9 KRT85 KRT74 HOXC13 HOXA13
27 ectodermal dysplasia 5, hair/nail type 7.8 TBL1X SMAD9 KRT85 KRT74 HOXC13 HOXA13

Graphical network of the top 20 diseases related to Ectodermal Dysplasia 7, Hair/nail Type:



Diseases related to Ectodermal Dysplasia 7, Hair/nail Type

Symptoms & Phenotypes for Ectodermal Dysplasia 7, Hair/nail Type

Human phenotypes related to Ectodermal Dysplasia 7, Hair/nail Type:

30 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sparse scalp hair 30 Very rare (1%) HP:0002209
2 dystrophic toenail 30 Very rare (1%) HP:0001810
3 dystrophic fingernails 30 Very rare (1%) HP:0008391
4 sparse eyebrow 30 Very rare (1%) HP:0045075
5 sparse eyelashes 30 Very rare (1%) HP:0000653
6 onycholysis 30 Very rare (1%) HP:0001806
7 brittle hair 30 Very rare (1%) HP:0002299
8 alopecia 30 HP:0001596
9 hair-nail ectodermal dysplasia 30 HP:0007436

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin Nails Hair Hair:
hypotrichosis
sparse eyelashes
brittle hair
no eyebrows
no eyelashes
more
Skin Nails Hair Skin:
normal skin
normal sweating

Skin Nails Hair Nails:
dystrophic fingernails
onycholysis
hyponychia
dystrophic toenails
micronychia

Head And Neck Teeth:
normal teeth

Clinical features from OMIM®:

614929 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Ectodermal Dysplasia 7, Hair/nail Type:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.28 DACT1 DSG4 ENO1 FOXN1 FOXQ1 HOXA13

Drugs & Therapeutics for Ectodermal Dysplasia 7, Hair/nail Type

Search Clinical Trials, NIH Clinical Center for Ectodermal Dysplasia 7, Hair/nail Type

Genetic Tests for Ectodermal Dysplasia 7, Hair/nail Type

Genetic tests related to Ectodermal Dysplasia 7, Hair/nail Type:

# Genetic test Affiliating Genes
1 Ectodermal Dysplasia 7, Hair/nail Type 28 KRT74

Anatomical Context for Ectodermal Dysplasia 7, Hair/nail Type

Organs/tissues related to Ectodermal Dysplasia 7, Hair/nail Type:

MalaCards : Skin

Publications for Ectodermal Dysplasia 7, Hair/nail Type

Articles related to Ectodermal Dysplasia 7, Hair/nail Type:

# Title Authors PMID Year
1
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. 57 5
24714551 2014
2
Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation. 57 5
20409997 2010
3
Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family. 57
17489990 2007

Variations for Ectodermal Dysplasia 7, Hair/nail Type

ClinVar genetic disease variations for Ectodermal Dysplasia 7, Hair/nail Type:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT74 NM_175053.4(KRT74):c.821T>C (p.Phe274Ser) SNV Pathogenic
96741 rs147962513 GRCh37: 12:52965165-52965165
GRCh38: 12:52571381-52571381

UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia 7, Hair/nail Type:

73
# Symbol AA change Variation ID SNP ID
1 KRT74 p.Phe274Ser VAR_071383 rs147962513

Expression for Ectodermal Dysplasia 7, Hair/nail Type

Search GEO for disease gene expression data for Ectodermal Dysplasia 7, Hair/nail Type.

Pathways for Ectodermal Dysplasia 7, Hair/nail Type

Pathways related to Ectodermal Dysplasia 7, Hair/nail Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.36 FOXN1 DSG4

GO Terms for Ectodermal Dysplasia 7, Hair/nail Type

Biological processes related to Ectodermal Dysplasia 7, Hair/nail Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hair follicle development GO:0001942 9.63 HOXC13 FOXN1 DSG4
2 nail development GO:0035878 9.56 HOXC13 FOXN1
3 anatomical structure morphogenesis GO:0009653 9.5 SMAD9 HOXC13 HOXA13 FOXQ1
4 embryonic hindgut morphogenesis GO:0048619 8.92 HOXA13 DACT1

Molecular functions related to Ectodermal Dysplasia 7, Hair/nail Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription cis-regulatory region binding GO:0000976 9.17 TBL1X HOXC13 HOXA13 FOXN1

Sources for Ectodermal Dysplasia 7, Hair/nail Type

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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