ECTD5
MCID: ECT064
MIFTS: 16

Ectodermal Dysplasia 5, Hair/nail Type (ECTD5)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin 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 58 13 74
Ectd5 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
one pakistani reported (last curated november 2012)


HPO:

33
ectodermal dysplasia 5, hair/nail type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 614927
MedGen 43 C3554108
SNOMED-CT via HPO 70 258211005
UMLS 74 C3554108

Summaries for Ectodermal Dysplasia 5, Hair/nail Type

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. (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). Affiliated tissues include skin and eye, and 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 11.1

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

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

33
# Description HPO Frequency HPO Source Accession
1 sparse scalp hair 33 HP:0002209
2 dystrophic fingernails 33 HP:0008391
3 absent toenail 33 HP:0001802
4 hair-nail ectodermal dysplasia 33 HP:0007436

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Nails:
dystrophic fingernails
micronychia
absent toenails (anonychia)

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

Clinical features from OMIM:

614927

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

MalaCards organs/tissues related to Ectodermal Dysplasia 5, Hair/nail Type:

42
Skin, Eye

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 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
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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