ECTD8
MCID: ECT069
MIFTS: 17

Ectodermal Dysplasia 8, Hair/tooth/nail Type (ECTD8)

Categories: Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ectodermal Dysplasia 8, Hair/tooth/nail Type

MalaCards integrated aliases for Ectodermal Dysplasia 8, Hair/tooth/nail Type:

Name: Ectodermal Dysplasia 8, Hair/tooth/nail Type 58 30 13 74
Fried's Tooth and Nail Syndrome 60
Ectd8 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
ectodermal dysplasia 8, hair/tooth/nail type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 602401
UMLS via Orphanet 75 C0406715
Orphanet 60 ORPHA99672
MedGen 43 C3551424
UMLS 74 C3551424

Summaries for Ectodermal Dysplasia 8, Hair/tooth/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-8 is an autosomal recessive disorder characterized by abnormal development of hair, teeth, and nails. (602401)

MalaCards based summary : Ectodermal Dysplasia 8, Hair/tooth/nail Type, also known as fried's tooth and nail syndrome, is related to dermoodontodysplasia. An important gene associated with Ectodermal Dysplasia 8, Hair/tooth/nail Type is ECTD8 (Ectodermal Dysplasia 8, Hair/Tooth/Nail Type). Affiliated tissues include skin, and related phenotypes are sparse scalp hair and aplasia/hypoplasia of the eyebrow

Related Diseases for Ectodermal Dysplasia 8, Hair/tooth/nail Type

Diseases related to Ectodermal Dysplasia 8, Hair/tooth/nail Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dermoodontodysplasia 11.1

Symptoms & Phenotypes for Ectodermal Dysplasia 8, Hair/tooth/nail Type

Human phenotypes related to Ectodermal Dysplasia 8, Hair/tooth/nail Type:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 sparse scalp hair 33 HP:0002209
2 aplasia/hypoplasia of the eyebrow 33 HP:0100840
3 dystrophic toenail 33 HP:0001810
4 dystrophic fingernails 33 HP:0008391
5 macrodontia 33 HP:0001572
6 sparse or absent eyelashes 33 HP:0200102
7 agenesis of permanent teeth 33 HP:0006349
8 irregular dentition 33 HP:0040079
9 hair-nail ectodermal dysplasia 33 HP:0007436

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Nails:
dystrophic fingernails
dystrophic toenails
thin, flat fingernail plates

Head And Neck Teeth:
misshapen teeth
missing teeth
large teeth
irregular teeth

Skin Nails Hair Hair:
sparse or absent eyelashes
thin scalp hair
sparse scalp hair (in some patients)
thin body hair
fine scalp hair
more
Skin Nails Hair Skin:
normal sweating

Clinical features from OMIM:

602401

Drugs & Therapeutics for Ectodermal Dysplasia 8, Hair/tooth/nail Type

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia 8, Hair/tooth/nail Type

Genetic Tests for Ectodermal Dysplasia 8, Hair/tooth/nail Type

Genetic tests related to Ectodermal Dysplasia 8, Hair/tooth/nail Type:

# Genetic test Affiliating Genes
1 Ectodermal Dysplasia 8, Hair/tooth/nail Type 30

Anatomical Context for Ectodermal Dysplasia 8, Hair/tooth/nail Type

MalaCards organs/tissues related to Ectodermal Dysplasia 8, Hair/tooth/nail Type:

42
Skin

Publications for Ectodermal Dysplasia 8, Hair/tooth/nail Type

Variations for Ectodermal Dysplasia 8, Hair/tooth/nail Type

Expression for Ectodermal Dysplasia 8, Hair/tooth/nail Type

Search GEO for disease gene expression data for Ectodermal Dysplasia 8, Hair/tooth/nail Type.

Pathways for Ectodermal Dysplasia 8, Hair/tooth/nail Type

GO Terms for Ectodermal Dysplasia 8, Hair/tooth/nail Type

Sources for Ectodermal Dysplasia 8, Hair/tooth/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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