ECTD9
MCID: ECT066
MIFTS: 19

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 58 76 30 13 6 74
Ectd9 58 76
Dysplasia, Ectodermal, Type 9, Hair/nail 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
ectodermal dysplasia 9, hair/nail type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 614931
MeSH 45 D004476
UMLS 74 C3554127

Summaries for Ectodermal Dysplasia 9, Hair/nail Type

UniProtKB/Swiss-Prot : 76 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. An important gene associated with Ectodermal Dysplasia 9, Hair/nail Type is HOXC13 (Homeobox C13). Related phenotypes are nail dystrophy and hypotrichosis

OMIM : 58 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 10.1
2 ectodermal dysplasia 10.1

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

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

33
# Description HPO Frequency HPO Source Accession
1 nail dystrophy 33 HP:0008404
2 hypotrichosis 33 HP:0001006
3 concave nail 33 HP:0001598
4 ectodermal dysplasia 33 HP:0000968

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Nails:
nail dystrophy
micronychia
koilonychia (spoon nails)

Skin Nails Hair Hair:
hypotrichosis
atrichia

Clinical features from OMIM:

614931

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 30 HOXC13

Anatomical Context for Ectodermal Dysplasia 9, Hair/nail Type

Publications for Ectodermal Dysplasia 9, Hair/nail Type

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.390C> A (p.Tyr130Ter) single nucleotide variant Pathogenic rs398122913 GRCh38 Chromosome 12, 53939296: 53939296
3 HOXC13 NM_017410.2(HOXC13): c.-24497_736+2389del deletion Pathogenic GRCh37 Chromosome 12, 54308194: 54335815
4 HOXC13 NM_017410.2(HOXC13): c.-24497_736+2389del deletion Pathogenic GRCh38 Chromosome 12, 53914410: 53942031
5 HOXC13 NM_017410.2(HOXC13): c.355delC (p.Leu119Trpfs) deletion Pathogenic rs398122377 GRCh37 Chromosome 12, 54333045: 54333045
6 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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45 MeSH
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50 NCI
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52 NDF-RT
55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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