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 57 29 13 73
Fried's Tooth and Nail Syndrome 59
Ectd8 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
ectodermal dysplasia 8, hair/tooth/nail type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 602401
Orphanet 59 ORPHA99672
UMLS via Orphanet 74 C0406715
MedGen 42 C3551424
UMLS 73 C3551424

Summaries for Ectodermal Dysplasia 8, Hair/tooth/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-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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 sparse scalp hair 32 HP:0002209
2 aplasia/hypoplasia of the eyebrow 32 HP:0100840
3 dystrophic toenail 32 HP:0001810
4 dystrophic fingernails 32 HP:0008391
5 macrodontia 32 HP:0001572
6 sparse or absent eyelashes 32 HP:0200102
7 agenesis of permanent teeth 32 HP:0006349
8 irregular dentition 32 HP:0040079
9 hair-nail ectodermal dysplasia 32 HP:0007436

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 29

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

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

41
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 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
Content
Loading form....