ECTD6
MCID: ECT068
MIFTS: 27

Ectodermal Dysplasia 6, Hair/nail Type (ECTD6)

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

Aliases & Classifications for Ectodermal Dysplasia 6, Hair/nail Type

MalaCards integrated aliases for Ectodermal Dysplasia 6, Hair/nail Type:

Name: Ectodermal Dysplasia 6, Hair/nail Type 57 12 13 70
Ectodermal Dysplasia 6 12 15
Ectd6 57 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
one pakistani family reported (last curated november 2012)


HPO:

31
ectodermal dysplasia 6, hair/nail type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111659
OMIM® 57 614928
OMIM Phenotypic Series 57 PS305100
MedGen 41 C3554111
UMLS 70 C3554111

Summaries for Ectodermal Dysplasia 6, 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. (614928) (Updated 05-Apr-2021)

MalaCards based summary : Ectodermal Dysplasia 6, Hair/nail Type, also known as ectodermal dysplasia 6, is related to ectodermal dysplasia and woolly hair, autosomal dominant. An important gene associated with Ectodermal Dysplasia 6, Hair/nail Type is ECTD6 (Ectodermal Dysplasia 6, Hair/Nail Type), and among its related pathways/superpathways is Keratinization. Related phenotypes are alopecia and sparse hair

Disease Ontology : 12 A pure hair and nail ectodermal dysplasia that has material basis in homozygous or compound heterozygous mutation in a region on chromosome 17p12-q21.2.

Related Diseases for Ectodermal Dysplasia 6, 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 6, Hair/nail Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 30.0 KRT85 KRT74 HOXC13
2 woolly hair, autosomal dominant 10.2 KRT85 KRT74
3 hypotrichosis 7 10.1 KRT74 DSG4
4 hypotrichosis, congenital, with juvenile macular dystrophy 10.1 KRT74 DSG4
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 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.9
14 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 9.9 HOXC13 FOXN1 DSG4
15 monilethrix 9.9 KRT85 KRT74 HOXC13 DSG4
16 microcephaly and chorioretinopathy 1 9.9 TBL1X SMAD9
17 hand-foot-genital syndrome 9.8 HOXC13 HOXA13
18 hair disease 9.8 KRT74 HOXC13 FOXN1 DSG4
19 methylmalonic aciduria, cbla type 9.8 TBL1X ENO1
20 ectodermal dysplasia 4, hair/nail type 9.5 KRT85 KRT74 HOXC13 FOXN1 ECTD6 DSG4
21 ectodermal dysplasia 9, hair/nail type 7.7 TBL1X SMAD9 KRT85 KRT74 HOXC13 HOXA13
22 ectodermal dysplasia 7, hair/nail type 7.7 TBL1X SMAD9 KRT85 KRT74 HOXC13 HOXA13
23 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 6, Hair/nail Type:



Diseases related to Ectodermal Dysplasia 6, Hair/nail Type

Symptoms & Phenotypes for Ectodermal Dysplasia 6, Hair/nail Type

Human phenotypes related to Ectodermal Dysplasia 6, Hair/nail Type:

31
# Description HPO Frequency HPO Source Accession
1 alopecia 31 HP:0001596
2 sparse hair 31 HP:0008070
3 dystrophic toenail 31 HP:0001810
4 thin toenail 31 HP:0012746
5 hair-nail ectodermal dysplasia 31 HP:0007436

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Nails:
dystrophic toenails
koilonychia of fingernails and toenails
thin toenails

Skin Nails Hair Hair:
total alopecia at birth
curly, sparse hair on the scalp at 5 years of age
hair can be painlessly plucked without force

Clinical features from OMIM®:

614928 (Updated 05-Apr-2021)

Drugs & Therapeutics for Ectodermal Dysplasia 6, Hair/nail Type

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia 6, Hair/nail Type

Genetic Tests for Ectodermal Dysplasia 6, Hair/nail Type

Anatomical Context for Ectodermal Dysplasia 6, Hair/nail Type

Publications for Ectodermal Dysplasia 6, Hair/nail Type

Articles related to Ectodermal Dysplasia 6, Hair/nail Type:

# Title Authors PMID Year
1
Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2. 57
17107387 2006
2
Prosthetic Management of a Child with Hypohidrotic Ectodermal Dysplasia: 6-Year Follow-Up. 61
27822392 2016

Variations for Ectodermal Dysplasia 6, Hair/nail Type

Expression for Ectodermal Dysplasia 6, Hair/nail Type

Search GEO for disease gene expression data for Ectodermal Dysplasia 6, Hair/nail Type.

Pathways for Ectodermal Dysplasia 6, Hair/nail Type

Pathways related to Ectodermal Dysplasia 6, 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 6, Hair/nail Type

Cellular components related to Ectodermal Dysplasia 6, 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 6, 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 6, Hair/nail Type according to GeneCards Suite gene sharing:

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

Sources for Ectodermal Dysplasia 6, 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....