ECTD8
MCID: ECT069
MIFTS: 18

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

Categories: Fetal diseases, Genetic 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 12 29 13 70
Fried's Tooth and Nail Syndrome 12 58
Ectd8 57 12
Ectodermal Dysplasia 8 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
ectodermal dysplasia 8, hair/tooth/nail type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111661
OMIM® 57 602401
OMIM Phenotypic Series 57 PS305100
SNOMED-CT 67 239020008
UMLS via Orphanet 71 C0406715
Orphanet 58 ORPHA99672
MedGen 41 C3551424
UMLS 70 C0406715 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) (Updated 20-May-2021)

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

Disease Ontology : 12 An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has material basis in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3.

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

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

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

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 sparse scalp hair 31 HP:0002209
2 aplasia/hypoplasia of the eyebrow 31 HP:0100840
3 dystrophic toenail 31 HP:0001810
4 macrodontia 31 HP:0001572
5 dystrophic fingernails 31 HP:0008391
6 sparse or absent eyelashes 31 HP:0200102
7 agenesis of permanent teeth 31 HP:0006349
8 irregular dentition 31 HP:0040079
9 hair-nail ectodermal dysplasia 31 HP:0007436

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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)
sparse or absent eyebrows
thin body hair
more
Skin Nails Hair Skin:
normal sweating

Clinical features from OMIM®:

602401 (Updated 20-May-2021)

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

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

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

# Title Authors PMID Year
1
A novel locus for ectodermal dysplasia of hairs, nails and teeth type maps to chromosome 18q22.1-22.3. 57
18184143 2008
2
New form of hidrotic ectodermal dysplasia in a Lebanese family. 57
9450885 1998
3
Autosomal recessive hydrotic ectodermal dysplasia. 57
856958 1977

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....