ECTD7
MCID: ECT065
MIFTS: 19

Ectodermal Dysplasia 7, Hair/nail Type (ECTD7)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin 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 58 76 30 13 6 74
Ectd7 58 76
Dysplasia, Ectodermal, Type 7, Hair/nail 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
ectodermal dysplasia 7, hair/nail type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 614929
MeSH 45 D004476
UMLS 74 C3554117

Summaries for Ectodermal Dysplasia 7, Hair/nail Type

UniProtKB/Swiss-Prot : 76 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 alopecia 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. (614929)

Related Diseases for Ectodermal Dysplasia 7, Hair/nail Type

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

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

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 alopecia 33 HP:0001596
2 hypotrichosis 33 HP:0001006
3 dystrophic toenail 33 HP:0001810
4 dystrophic fingernails 33 HP:0008391
5 sparse eyelashes 33 HP:0000653
6 onycholysis 33 HP:0001806
7 brittle hair 33 HP:0002299
8 sparse and thin eyebrow 33 HP:0000535
9 hair-nail ectodermal dysplasia 33 HP:0007436

Symptoms via clinical synopsis from OMIM:

58
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

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 30 KRT74

Anatomical Context for Ectodermal Dysplasia 7, Hair/nail Type

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

42
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:

76
# Symbol AA change Variation ID SNP ID
1 KRT74 p.Phe274Ser VAR_071383 rs147962513

ClinVar genetic disease variations for Ectodermal Dysplasia 7, Hair/nail Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KRT74 NM_175053.3(KRT74): c.821T> C (p.Phe274Ser) single nucleotide variant Benign rs147962513 GRCh37 Chromosome 12, 52965165: 52965165
2 KRT74 NM_175053.3(KRT74): c.821T> C (p.Phe274Ser) single nucleotide variant Benign rs147962513 GRCh38 Chromosome 12, 52571381: 52571381

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 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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