ECTD6
MCID: ECT068
MIFTS: 17

Ectodermal Dysplasia 6, Hair/nail Type (ECTD6)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ectodermal Dysplasia 6, Hair/nail Type

MalaCards integrated aliases for Ectodermal Dysplasia 6, Hair/nail Type:

Name: Ectodermal Dysplasia 6, Hair/nail Type 57 13 73
Ectd6 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
one pakistani family reported (last curated november 2012)


HPO:

32
ectodermal dysplasia 6, hair/nail type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614928
MedGen 42 C3554111
SNOMED-CT via HPO 69 258211005 278040002 56317004
UMLS 73 C3554111

Summaries for Ectodermal Dysplasia 6, 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. (614928)

MalaCards based summary : Ectodermal Dysplasia 6, Hair/nail Type, also known as ectd6, is related to ectodermal dysplasia 4, hair/nail type. An important gene associated with Ectodermal Dysplasia 6, Hair/nail Type is ECTD6 (Ectodermal Dysplasia 6, Hair/Nail Type). Affiliated tissues include skin and eye, and related phenotypes are alopecia and sparse hair

Related Diseases for Ectodermal Dysplasia 6, 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 6, 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 6, Hair/nail Type

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Nails:
dystrophic toenails
koilonychia of fingernails and toenails
thin toenails

Skin Nails Hair Hair:
total alopecia at birth
curly, sparse hair on the scalp at 5 years of age
hair can be painlessly plucked without force


Clinical features from OMIM:

614928

Human phenotypes related to Ectodermal Dysplasia 6, Hair/nail Type:

32
# Description HPO Frequency HPO Source Accession
1 alopecia 32 HP:0001596
2 sparse hair 32 HP:0008070
3 dystrophic toenail 32 HP:0001810
4 thin toenail 32 HP:0012746
5 hair-nail ectodermal dysplasia 32 HP:0007436

Drugs & Therapeutics for Ectodermal Dysplasia 6, Hair/nail Type

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia 6, Hair/nail Type

Genetic Tests for Ectodermal Dysplasia 6, Hair/nail Type

Anatomical Context for Ectodermal Dysplasia 6, Hair/nail Type

MalaCards organs/tissues related to Ectodermal Dysplasia 6, Hair/nail Type:

41
Skin, Eye

Publications for Ectodermal Dysplasia 6, Hair/nail Type

Variations for Ectodermal Dysplasia 6, Hair/nail Type

Expression for Ectodermal Dysplasia 6, Hair/nail Type

Search GEO for disease gene expression data for Ectodermal Dysplasia 6, Hair/nail Type.

Pathways for Ectodermal Dysplasia 6, Hair/nail Type

GO Terms for Ectodermal Dysplasia 6, Hair/nail Type

Sources for Ectodermal Dysplasia 6, 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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