ECTD5
MCID: ECT064
MIFTS: 26

Ectodermal Dysplasia 5, Hair/nail Type (ECTD5)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Ectodermal Dysplasia 5, Hair/nail Type

MalaCards integrated aliases for Ectodermal Dysplasia 5, Hair/nail Type:

Name: Ectodermal Dysplasia 5, Hair/nail Type 57 11 71
Ectodermal Dysplasia 5 11 14
Ectd5 57 11

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
one pakistani reported (last curated november 2012)


Classifications:



External Ids:

Disease Ontology 11 DOID:0111657
OMIM® 57 614927
OMIM Phenotypic Series 57 PS305100
MedGen 40 C3554108
UMLS 71 C3554108

Summaries for Ectodermal Dysplasia 5, Hair/nail Type

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. (614927) (Updated 08-Dec-2022)

MalaCards based summary: Ectodermal Dysplasia 5, Hair/nail Type, also known as ectodermal dysplasia 5, is related to woolly hair, autosomal dominant and naegeli-franceschetti-jadassohn syndrome. An important gene associated with Ectodermal Dysplasia 5, Hair/nail Type is ECTD5 (Ectodermal Dysplasia 5, Hair/Nail Type), and among its related pathways/superpathways is Hair follicle development: cytodifferentiation - part 3 of 3. Related phenotypes are sparse scalp hair and dystrophic fingernails

Disease Ontology: 11 A pure hair and nail ectodermal dysplasia that has material basis in homozygous or compound heterozygous mutation in a region on chromosome 10q24.32-q25.1.

Related Diseases for Ectodermal Dysplasia 5, 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 5, 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 monilethrix 9.7 KRT85 KRT74 HOXC13 FOXN1 DSG4
25 ectodermal dysplasia 4, hair/nail type 9.5 KRT85 KRT74 HOXC13 FOXN1 ECTD5 DSG4
26 ectodermal dysplasia 7, hair/nail type 7.8 TBL1X SMAD9 KRT85 KRT74 HOXC13 HOXA13
27 ectodermal dysplasia 6, hair/nail type 7.8 TBL1X SMAD9 KRT85 KRT74 HOXC13 HOXA13

Graphical network of the top 20 diseases related to Ectodermal Dysplasia 5, Hair/nail Type:



Diseases related to Ectodermal Dysplasia 5, Hair/nail Type

Symptoms & Phenotypes for Ectodermal Dysplasia 5, Hair/nail Type

Human phenotypes related to Ectodermal Dysplasia 5, Hair/nail Type:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sparse scalp hair 30 HP:0002209
2 dystrophic fingernails 30 HP:0008391
3 absent toenail 30 HP:0001802
4 hair-nail ectodermal dysplasia 30 HP:0007436

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin Nails Hair Nails:
dystrophic fingernails
micronychia
absent toenails (anonychia)

Skin Nails Hair Hair:
thin scalp hair
thin body hair
fine eyebrows
fine eyelashes

Clinical features from OMIM®:

614927 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Ectodermal Dysplasia 5, 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 5, Hair/nail Type

Search Clinical Trials, NIH Clinical Center for Ectodermal Dysplasia 5, Hair/nail Type

Genetic Tests for Ectodermal Dysplasia 5, Hair/nail Type

Anatomical Context for Ectodermal Dysplasia 5, Hair/nail Type

Publications for Ectodermal Dysplasia 5, Hair/nail Type

Articles related to Ectodermal Dysplasia 5, Hair/nail Type:

# Title Authors PMID Year
1
A novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1. 57
15675952 2005
2
Light microscopic examination of scalp hair samples as an aid in the diagnosis of paediatric disorders: retrospective review of more than 300 cases from a single centre. 62
16311350 2005

Variations for Ectodermal Dysplasia 5, Hair/nail Type

Expression for Ectodermal Dysplasia 5, Hair/nail Type

Search GEO for disease gene expression data for Ectodermal Dysplasia 5, Hair/nail Type.

Pathways for Ectodermal Dysplasia 5, Hair/nail Type

Pathways related to Ectodermal Dysplasia 5, 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 5, Hair/nail Type

Biological processes related to Ectodermal Dysplasia 5, 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 5, 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 5, 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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