MCID: ECT065
MIFTS: 19

Ectodermal Dysplasia 7, Hair/nail Type

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

Aliases & Classifications for Ectodermal Dysplasia 7, Hair/nail Type

MalaCards integrated aliases for Ectodermal Dysplasia 7, Hair/nail Type:

Name: Ectodermal Dysplasia 7, Hair/nail Type 57 75 29 13 6 73
Ectd7 57 75
Dysplasia, Ectodermal, Type 7, Hair/nail 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
two pakistani families reported (last curated july 2014)


HPO:

32
ectodermal dysplasia 7, hair/nail type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614929
MeSH 44 D004476
UMLS 73 C3554117

Summaries for Ectodermal Dysplasia 7, Hair/nail Type

UniProtKB/Swiss-Prot : 75 Ectodermal dysplasia 7, 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. Ectodermal dysplasia of the hair/nail type is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations.

MalaCards based summary : Ectodermal Dysplasia 7, Hair/nail Type, is also known as ectd7. An important gene associated with Ectodermal Dysplasia 7, Hair/nail Type is KRT74 (Keratin 74). Affiliated tissues include skin, and related phenotypes are sparse and thin eyebrow and sparse 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. (614929)

Related Diseases for Ectodermal Dysplasia 7, Hair/nail Type

Symptoms & Phenotypes for Ectodermal Dysplasia 7, Hair/nail Type

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Hair:
hypotrichosis
sparse eyelashes
brittle hair
thin eyebrows
no axillary hair
more
Skin Nails Hair Skin:
normal skin
normal sweating

Skin Nails Hair Nails:
dystrophic fingernails
onycholysis
dystrophic toenails
micronychia
hyponychia

Head And Neck Teeth:
normal teeth


Clinical features from OMIM:

614929

Human phenotypes related to Ectodermal Dysplasia 7, Hair/nail Type:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 sparse and thin eyebrow 32 HP:0000535
2 sparse eyelashes 32 HP:0000653
3 hypotrichosis 32 HP:0001006
4 onycholysis 32 HP:0001806
5 dystrophic toenail 32 HP:0001810
6 brittle hair 32 HP:0002299
7 hair-nail ectodermal dysplasia 32 HP:0007436
8 dystrophic fingernails 32 HP:0008391

Drugs & Therapeutics for Ectodermal Dysplasia 7, Hair/nail Type

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia 7, Hair/nail Type

Genetic Tests for Ectodermal Dysplasia 7, Hair/nail Type

Genetic tests related to Ectodermal Dysplasia 7, Hair/nail Type:

# Genetic test Affiliating Genes
1 Ectodermal Dysplasia 7, Hair/nail Type 29 KRT74

Anatomical Context for Ectodermal Dysplasia 7, Hair/nail Type

MalaCards organs/tissues related to Ectodermal Dysplasia 7, Hair/nail Type:

41
Skin

Publications for Ectodermal Dysplasia 7, Hair/nail Type

Variations for Ectodermal Dysplasia 7, Hair/nail Type

UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia 7, Hair/nail Type:

75
# Symbol AA change Variation ID SNP ID
1 KRT74 p.Phe274Ser VAR_071383 rs147962513

Expression for Ectodermal Dysplasia 7, Hair/nail Type

Search GEO for disease gene expression data for Ectodermal Dysplasia 7, Hair/nail Type.

Pathways for Ectodermal Dysplasia 7, Hair/nail Type

GO Terms for Ectodermal Dysplasia 7, Hair/nail Type

Sources for Ectodermal Dysplasia 7, 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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