ECTD7
MCID: ECT065
MIFTS: 32

Ectodermal Dysplasia 7, Hair/nail Type (ECTD7)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

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 12 72 29 13 6 70
Ectd7 57 12 72
Ectodermal Dysplasia 7 12 15
Dysplasia, Ectodermal, Type 7, Hair/nail 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
two pakistani families reported (last curated july 2014)


HPO:

31
ectodermal dysplasia 7, hair/nail type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111660
OMIM® 57 614929
OMIM Phenotypic Series 57 PS305100
MeSH 44 D004476
UMLS 70 C3554117

Summaries for Ectodermal Dysplasia 7, Hair/nail Type

UniProtKB/Swiss-Prot : 72 Ectodermal dysplasia 7, 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. 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 hypotrichosis 7. An important gene associated with Ectodermal Dysplasia 7, Hair/nail Type is KRT74 (Keratin 74), and among its related pathways/superpathways is Keratinization. Affiliated tissues include eye, and related phenotypes are alopecia and dystrophic toenail

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

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 20-May-2021)

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 22)
# Related Disease Score Top Affiliating Genes
1 woolly hair, autosomal dominant 10.2 KRT85 KRT74
2 hypotrichosis 7 10.1 KRT74 DSG4
3 hypotrichosis, congenital, with juvenile macular dystrophy 10.1 KRT74 DSG4
4 ectodermal dysplasia 10.1 KRT85 KRT74 HOXC13
5 preaxial deficiency, postaxial polydactyly, and hypospadias 10.1 HOXC13 HOXA13
6 hypotrichosis 11 10.1 KRT74 DSG4
7 hypotrichosis 4 10.1 KRT74 HOXC13
8 hypotrichosis 6 10.0 KRT85 KRT74 DSG4
9 hypotrichosis 8 10.0 KRT85 KRT74 DSG4
10 hypotrichosis 10.0 KRT74 HOXC13 DSG4
11 familial woolly hair syndrome 10.0 KRT85 KRT74 DSG4
12 atrichia with papular lesions 10.0 KRT74 DSG4
13 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 9.9 HOXC13 FOXN1 DSG4
14 monilethrix 9.9 KRT85 KRT74 HOXC13 DSG4
15 microcephaly and chorioretinopathy 1 9.9 TBL1X SMAD9
16 hand-foot-genital syndrome 9.8 HOXC13 HOXA13
17 hair disease 9.8 KRT74 HOXC13 FOXN1 DSG4
18 methylmalonic aciduria, cbla type 9.8 TBL1X ENO1
19 ectodermal dysplasia 4, hair/nail type 9.6 KRT85 KRT74 HOXC13 FOXN1 DSG4
20 ectodermal dysplasia 9, hair/nail type 7.7 TBL1X SMAD9 KRT85 KRT74 HOXC13 HOXA13
21 ectodermal dysplasia 6, hair/nail type 7.7 TBL1X SMAD9 KRT85 KRT74 HOXC13 HOXA13
22 ectodermal dysplasia 5, hair/nail type 7.7 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:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 alopecia 31 HP:0001596
2 dystrophic toenail 31 HP:0001810
3 dystrophic fingernails 31 HP:0008391
4 sparse eyelashes 31 HP:0000653
5 onycholysis 31 HP:0001806
6 brittle hair 31 HP:0002299
7 sparse and thin eyebrow 31 HP:0000535
8 hair-nail ectodermal dysplasia 31 HP:0007436

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

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 29 KRT74

Anatomical Context for Ectodermal Dysplasia 7, Hair/nail Type

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

40
Eye

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 6
24714551 2014
2
Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation. 6 57
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:

6
# 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
2 KRT74 NM_175053.4(KRT74):c.853C>T (p.Gln285Ter) SNV Pathogenic 1034383 GRCh37: 12:52964608-52964608
GRCh38: 12:52570824-52570824

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

72
# 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
Show member pathways
11.25 KRT85 KRT74 DSG4

GO Terms for Ectodermal Dysplasia 7, Hair/nail Type

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

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.02 SMAD9 HOXC13 HOXA13 FOXQ1 FOXN1

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

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.8 TBL1X SMAD9 HOXC13 HOXA13 FOXQ1 FOXN1
2 keratinization GO:0031424 9.54 KRT85 KRT74 DSG4
3 cornification GO:0070268 9.43 KRT85 KRT74 DSG4
4 keratinocyte differentiation GO:0030216 9.4 FOXN1 DSG4
5 nail development GO:0035878 9.16 HOXC13 FOXN1
6 hair follicle development GO:0001942 9.13 HOXC13 FOXN1 DSG4
7 anatomical structure morphogenesis GO:0009653 8.92 SMAD9 HOXC13 HOXA13 FOXQ1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.73 SMAD9 HOXC13 HOXA13 FOXQ1 FOXN1 ENO1
2 DNA-binding transcription factor activity GO:0003700 9.46 SMAD9 HOXA13 FOXQ1 FOXN1
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.35 SMAD9 HOXC13 HOXA13 FOXQ1 FOXN1
4 transcription regulatory region sequence-specific DNA binding GO:0000976 8.8 TBL1X HOXA13 FOXN1

Sources for Ectodermal Dysplasia 7, Hair/nail Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....