MCID: ECT066
MIFTS: 18

Ectodermal Dysplasia 9, Hair/nail Type

Categories: Genetic diseases, Rare diseases, Fetal 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 53 71 28 13 69
Ectd9 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

OMIM 53 614931
MeSH 41 D004476
UMLS 69 C3554127

Summaries for Ectodermal Dysplasia 9, Hair/nail Type

UniProtKB/Swiss-Prot : 71 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 ectodermal dysplasia 4, hair/nail type and ectodermal dysplasia, and has symptoms including nail dystrophy, hypotrichosis and concave nail. An important gene associated with Ectodermal Dysplasia 9, Hair/nail Type is HOXC13 (Homeobox C13).

OMIM : 53 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)

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:

# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 4, hair/nail type 9.9
2 ectodermal dysplasia 9.9

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

Symptoms via clinical synopsis from OMIM:

53
Skin Nails Hair Nails:
nail dystrophy
koilonychia (spoon nails)
micronychia

Skin Nails Hair Hair:
hypotrichosis
atrichia


Clinical features from OMIM:

614931

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

31
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 31 HP:0008404
2 hypotrichosis 31 HP:0001006
3 concave nail 31 HP:0001598
4 ectodermal dysplasia 31 HP:0000968

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 Year
1
A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family. ( 28403827 )
2017

Variations for Ectodermal Dysplasia 9, Hair/nail Type

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HOXC13 NM_017410.2(HOXC13): c.390C> A (p.Tyr130Ter) single nucleotide variant Pathogenic rs398122913 GRCh37 Chromosome 12, 54333080: 54333080
2 HOXC13 NM_017410.2(HOXC13): c.-24497_736+2389del deletion Pathogenic GRCh37 Chromosome 12, 54308194: 54335815
3 HOXC13 NM_017410.2(HOXC13): c.355delC (p.Leu119Trpfs) deletion Pathogenic rs398122377 GRCh38 Chromosome 12, 53939261: 53939261

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

GO Terms for Ectodermal Dysplasia 9, Hair/nail Type

Sources for Ectodermal Dysplasia 9, Hair/nail Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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