MCID: ECT064
MIFTS: 14

Ectodermal Dysplasia 5, Hair/nail Type

Categories: Genetic diseases, Skin diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Ectodermal Dysplasia 5, Hair/nail Type

MalaCards integrated aliases for Ectodermal Dysplasia 5, Hair/nail Type:

Name: Ectodermal Dysplasia 5, Hair/nail Type 57 13 73
Ectd5 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
one pakistani reported (last curated november 2012)


HPO:

32
ectodermal dysplasia 5, hair/nail type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614927
MedGen 42 C3554108
SNOMED-CT via HPO 69 258211005
UMLS 73 C3554108

Summaries for Ectodermal Dysplasia 5, 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. (614927)

MalaCards based summary : Ectodermal Dysplasia 5, Hair/nail Type, also known as ectd5, is related to ectodermal dysplasia 4, hair/nail type. An important gene associated with Ectodermal Dysplasia 5, Hair/nail Type is ECTD5 (Ectodermal Dysplasia 5, Hair/Nail Type). Related phenotypes are sparse scalp hair and dystrophic fingernails

Related Diseases for Ectodermal Dysplasia 5, 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 5, 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 10.9

Symptoms & Phenotypes for Ectodermal Dysplasia 5, Hair/nail Type

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Nails:
micronychia
dystrophic fingernails
absent toenails (anonychia)

Skin Nails Hair Hair:
thin scalp hair
fine eyebrows
fine eyelashes
thin body hair


Clinical features from OMIM:

614927

Human phenotypes related to Ectodermal Dysplasia 5, Hair/nail Type:

32
# Description HPO Frequency HPO Source Accession
1 sparse scalp hair 32 HP:0002209
2 dystrophic fingernails 32 HP:0008391
3 absent toenail 32 HP:0001802
4 hair-nail ectodermal dysplasia 32 HP:0007436

Drugs & Therapeutics for Ectodermal Dysplasia 5, Hair/nail Type

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia 5, Hair/nail Type

Genetic Tests for Ectodermal Dysplasia 5, Hair/nail Type

Anatomical Context for Ectodermal Dysplasia 5, Hair/nail Type

Publications for Ectodermal Dysplasia 5, Hair/nail Type

Variations for Ectodermal Dysplasia 5, Hair/nail Type

Expression for Ectodermal Dysplasia 5, Hair/nail Type

Search GEO for disease gene expression data for Ectodermal Dysplasia 5, Hair/nail Type.

Pathways for Ectodermal Dysplasia 5, Hair/nail Type

GO Terms for Ectodermal Dysplasia 5, Hair/nail Type

Sources for Ectodermal Dysplasia 5, Hair/nail Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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