ECTD9
MCID: ECT066
MIFTS: 32

Ectodermal Dysplasia 9, Hair/nail Type (ECTD9)

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

Aliases & Classifications for Ectodermal Dysplasia 9, Hair/nail Type

MalaCards integrated aliases for Ectodermal Dysplasia 9, Hair/nail Type:

Name: Ectodermal Dysplasia 9, Hair/nail Type 57 12 72 29 13 6 70
Ectd9 57 12 72
Ectodermal Dysplasia 9 12 15
Dysplasia, Ectodermal, Type 9, Hair/nail 39

Characteristics:

OMIM®:

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


HPO:

31
ectodermal dysplasia 9, hair/nail type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111656
OMIM® 57 614931
OMIM Phenotypic Series 57 PS305100
MeSH 44 D004476
UMLS 70 C3554127

Summaries for Ectodermal Dysplasia 9, Hair/nail Type

UniProtKB/Swiss-Prot : 72 Ectodermal dysplasia 9, 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. ECTD9 is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia).

MalaCards based summary : Ectodermal Dysplasia 9, Hair/nail Type, also known as ectd9, is related to hypotrichosis and ectodermal dysplasia. An important gene associated with Ectodermal Dysplasia 9, Hair/nail Type is HOXC13 (Homeobox C13), and among its related pathways/superpathways is Keratinization. Related phenotypes are nail dystrophy and absent eyelashes

Disease Ontology : 12 A pure hair and nail ectodermal dysplasia that has material basis in homozygous or compound heterozygous mutation in HOXC13 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. Hypotrichosis usually occurs after birth with varying degrees of severity, ranging from mild hair loss to complete atrichia, including the loss of scalp hair, beard, eyebrows, eyelashes, axillary hair, and pubic hair. Nail dystrophy affects all 20 digits by causing short fragile nails or spoon nails (koilonychia) (summary by Lin et al., 2012). (614931) (Updated 05-Apr-2021)

Related Diseases for Ectodermal Dysplasia 9, 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 9, Hair/nail Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 30.0 KRT74 HOXC13 DSG4
2 ectodermal dysplasia 29.9 KRT85 KRT74 HOXC13-AS HOXC13
3 ectodermal dysplasia 4, hair/nail type 29.1 KRT85 KRT74 KRT35 HOXC13-AS HOXC13 FOXN1
4 skin pilomatrix carcinoma 10.2 KRT35 HOXC13
5 woolly hair, autosomal dominant 10.2 KRT85 KRT74
6 diffuse alopecia areata 10.2 KRT35 CRISP1
7 hypotrichosis 4 10.2 KRT74 HOXC13
8 hair follicle neoplasm 10.1 KRT35 HOXC13
9 hypotrichosis 7 10.1 KRT74 DSG4
10 hypotrichosis, congenital, with juvenile macular dystrophy 10.1 KRT74 DSG4
11 preaxial deficiency, postaxial polydactyly, and hypospadias 10.1 HOXC13 HOXA13
12 hypotrichosis 11 10.1 KRT74 DSG4
13 hypotrichosis 6 10.0 KRT85 KRT74 DSG4
14 atrichia with papular lesions 10.0 KRT74 DSG4
15 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 10.0 HOXC13 FOXN1 DSG4
16 vertical talus, congenital 10.0 HOXC13-AS HOXC13
17 hypotrichosis 8 10.0 KRT85 KRT74 DSG4
18 familial woolly hair syndrome 10.0 KRT85 KRT74 DSG4
19 hand-foot-genital syndrome 10.0 HOXC13 HOXA13
20 nail disorder, nonsyndromic congenital, 9 9.9
21 monilethrix 9.9 KRT85 KRT74 HOXC13 DSG4
22 pilomatrixoma 9.9 KRT35 HOXC13
23 microcephaly and chorioretinopathy 1 9.9 TBL1X SMAD9
24 hair disease 9.9 KRT74 HOXC13 FOXN1 DSG4
25 methylmalonic aciduria, cbla type 9.8 TBL1X ENO1
26 ectodermal dysplasia 7, hair/nail type 7.8 TBL1X SMAD9 KRT85 KRT74 HOXC13 HOXA13
27 ectodermal dysplasia 6, hair/nail type 7.7 TBL1X SMAD9 KRT85 KRT74 HOXC13 HOXA13
28 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 9, Hair/nail Type:



Diseases related to Ectodermal Dysplasia 9, Hair/nail Type

Symptoms & Phenotypes for Ectodermal Dysplasia 9, Hair/nail Type

Human phenotypes related to Ectodermal Dysplasia 9, Hair/nail Type:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 31 very rare (1%) HP:0008404
2 absent eyelashes 31 HP:0000561
3 sparse hair 31 HP:0008070
4 concave nail 31 HP:0001598
5 ectodermal dysplasia 31 HP:0000968
6 atrichia 31 HP:0500262

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Hair:
hypotrichosis
atrichia

Skin Nails Hair Nails:
nail dystrophy
micronychia
koilonychia (spoon nails)

Clinical features from OMIM®:

614931 (Updated 05-Apr-2021)

Drugs & Therapeutics for Ectodermal Dysplasia 9, Hair/nail Type

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia 9, Hair/nail Type

Genetic Tests for Ectodermal Dysplasia 9, Hair/nail Type

Genetic tests related to Ectodermal Dysplasia 9, Hair/nail Type:

# Genetic test Affiliating Genes
1 Ectodermal Dysplasia 9, Hair/nail Type 29 HOXC13

Anatomical Context for Ectodermal Dysplasia 9, Hair/nail Type

Publications for Ectodermal Dysplasia 9, Hair/nail Type

Articles related to Ectodermal Dysplasia 9, Hair/nail Type:

# Title Authors PMID Year
1
A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a Syrian family. 57 6
23315978 2013
2
Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia. 6 57
23063621 2012
3
Mammalian-specific ectodermal enhancers control the expression of Hoxc genes in developing nails and hair follicles. 61
33199643 2020
4
A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family. 61
28403827 2017

Variations for Ectodermal Dysplasia 9, Hair/nail Type

ClinVar genetic disease variations for Ectodermal Dysplasia 9, Hair/nail Type:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HOXC13-AS , HOXC13 NM_017410.3(HOXC13):c.390C>A (p.Tyr130Ter) SNV Pathogenic 39781 rs398122913 GRCh37: 12:54333080-54333080
GRCh38: 12:53939296-53939296
2 overlap with 2 genes NM_017410.2(HOXC13):c.-24497_736+2389del Deletion Pathogenic 39782 GRCh37: 12:54308194-54335815
GRCh38: 12:53914410-53942031
3 HOXC13-AS , HOXC13 NM_017410.3(HOXC13):c.355del (p.Leu119fs) Deletion Pathogenic 50641 rs398122377 GRCh37: 12:54333043-54333043
GRCh38: 12:53939259-53939259
4 HOXC13-AS , HOXC13 NM_017410.3(HOXC13):c.1A>G (p.Met1Val) SNV Pathogenic 997613 GRCh37: 12:54332691-54332691
GRCh38: 12:53938907-53938907

Expression for Ectodermal Dysplasia 9, Hair/nail Type

Search GEO for disease gene expression data for Ectodermal Dysplasia 9, Hair/nail Type.

Pathways for Ectodermal Dysplasia 9, Hair/nail Type

Pathways related to Ectodermal Dysplasia 9, Hair/nail Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.38 KRT85 KRT74 KRT35 DSG4

GO Terms for Ectodermal Dysplasia 9, Hair/nail Type

Cellular components related to Ectodermal Dysplasia 9, Hair/nail Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 8.8 KRT85 KRT74 KRT35

Biological processes related to Ectodermal Dysplasia 9, 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 9.85 TBL1X SMAD9 HOXC13 HOXA13 FOXQ1 FOXN1
2 keratinization GO:0031424 9.56 KRT85 KRT74 KRT35 DSG4
3 hair follicle development GO:0001942 9.33 HOXC13 FOXN1 DSG4
4 nail development GO:0035878 9.32 HOXC13 FOXN1
5 cornification GO:0070268 9.26 KRT85 KRT74 KRT35 DSG4
6 anatomical structure morphogenesis GO:0009653 9.02 SMAD9 KRT35 HOXC13 HOXA13 FOXQ1

Molecular functions related to Ectodermal Dysplasia 9, Hair/nail Type according to GeneCards Suite gene sharing:

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

Sources for Ectodermal Dysplasia 9, 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....