ECTD9
MCID: ECT066
MIFTS: 32

Ectodermal Dysplasia 9, Hair/nail Type (ECTD9)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
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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 11 73 28 5 71
Ectd9 57 11 73
Ectodermal Dysplasia 9 11 14
Dysplasia, Ectodermal, Type 9, Hair/nail 38

Characteristics:


Inheritance:

Autosomal recessive 57

Classifications:



External Ids:

Disease Ontology 11 DOID:0111656
OMIM® 57 614931
OMIM Phenotypic Series 57 PS305100
MeSH 43 D004476
UMLS 71 C3554127

Summaries for Ectodermal Dysplasia 9, 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. 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 ectodermal dysplasia and ectodermal dysplasia 4, hair/nail type. 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

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 08-Dec-2022)

Disease Ontology: 11 A pure hair and nail ectodermal dysplasia that has material basis in homozygous or compound heterozygous mutation in HOXC13 on chromosome 12q13.13.

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 29)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 29.8 KRT85 KRT74 HOXC13 GRHL2
2 ectodermal dysplasia 4, hair/nail type 29.2 KRT85 KRT74 KRT35 HOXC13 GRHL2 FOXN1
3 skin pilomatrix carcinoma 10.2 KRT35 HOXC13
4 woolly hair, autosomal dominant 10.2 KRT85 KRT74
5 hypotrichosis 4 10.2 KRT74 HOXC13
6 hypotrichosis 6 10.2 KRT85 KRT74
7 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 10.2 HOXC13 FOXN1
8 naegeli-franceschetti-jadassohn syndrome 10.2 KRT85 KRT74
9 hypotrichosis 8 10.1 KRT85 KRT74
10 white sponge nevus 1 10.1 KRT85 KRT74
11 atrichia with papular lesions 10.1 KRT74 FOXN1
12 hypotrichosis 2 10.1 KRT74 FOXN1
13 familial woolly hair syndrome 10.1 KRT85 KRT74 HOXC13
14 diffuse alopecia areata 10.0 KRT35 CRISP1
15 hair disease 10.0 KRT74 HOXC13 FOXN1
16 pilomatrixoma 10.0 KRT35 HOXC13
17 acanthoma 10.0 KRT10 FOXN1
18 nail disorder, nonsyndromic congenital, 9 10.0
19 hypotrichosis 7 10.0
20 hypotrichosis 10.0
21 epidermolysis bullosa simplex 1a, generalized severe 10.0 KRT74 KRT10
22 hair follicle neoplasm 9.9 KRT35 KRT10 HOXC13
23 keratosis, seborrheic 9.9 KRT10 FOXN1
24 monilethrix 9.9 KRT85 KRT74 HOXC13 FOXN1
25 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.9 KRT85 KRT74
26 pachyonychia congenita 1 9.8 KRT74 KRT10
27 ectodermal dysplasia 6, hair/nail type 9.6 KRT85 KRT74 HOXC13 FOXN1 CRISP1
28 ectodermal dysplasia 5, hair/nail type 9.6 KRT85 KRT74 HOXC13 FOXN1 CRISP1
29 ectodermal dysplasia 7, hair/nail type 9.6 KRT85 KRT74 HOXC13 FOXN1 CRISP1

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:

30 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nail dystrophy 30 Very rare (1%) HP:0008404
2 absent eyelashes 30 HP:0000561
3 sparse hair 30 HP:0008070
4 concave nail 30 HP:0001598
5 ectodermal dysplasia 30 HP:0000968
6 atrichia 30 HP:0500262

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin Nails Hair Hair:
hypotrichosis
atrichia

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

Clinical features from OMIM®:

614931 (Updated 08-Dec-2022)

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 28 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 5
23315978 2013
2
Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia. 57 5
23063621 2012
3
Naked (N) mutant mice carry a nonsense mutation in the homeobox of Hoxc13. 62
34657330 2022
4
Mammalian-specific ectodermal enhancers control the expression of Hoxc genes in developing nails and hair follicles. 62
33199643 2020
5
The disrupted balance between hair follicles and sebaceous glands in Hoxc13-ablated rabbits. 62
30125135 2019
6
A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family. 62
28403827 2017
7
Generation of Hoxc13 knockout pigs recapitulates human ectodermal dysplasia-9. 62
28011715 2017
8
R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy. 62
18603493 2008

Variations for Ectodermal Dysplasia 9, Hair/nail Type

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

5
# 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 DEL Pathogenic
39782 GRCh37: 12:54308194-54335815
GRCh38: 12:53914410-53942031
3 HOXC13-AS, HOXC13 NM_017410.3(HOXC13):c.355del (p.Leu119fs) DEL Pathogenic
50641 rs398122377 GRCh37: 12:54333043-54333043
GRCh38: 12:53939259-53939259
4 HOXC13 NM_017410.3(HOXC13):c.*12C>A SNV Benign
1285351 GRCh37: 12:54339052-54339052
GRCh38: 12:53945268-53945268

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
11.46 KRT85 KRT74 KRT35 KRT10

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 keratin filament GO:0045095 9.43 KRT85 KRT74 KRT10
2 intermediate filament GO:0005882 9.1 KRT85 KRT74 KRT35 KRT10

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

# Name GO ID Score Top Affiliating Genes
1 intermediate filament organization GO:0045109 9.63 KRT85 KRT74 KRT35
2 nail development GO:0035878 9.26 HOXC13 FOXN1
3 epidermis development GO:0008544 9.23 KRT85 KRT10 GRHL2 FOXN1

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

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.35 KRT85 KRT35 KRT10
2 structural constituent of skin epidermis GO:0030280 9.1 KRT85 KRT74 KRT10

Sources for Ectodermal Dysplasia 9, 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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