MCID: ECT041
MIFTS: 22

Ectodermal Dysplasia-Syndactyly Syndrome 2

Categories: Skin diseases, Fetal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Ectodermal Dysplasia-Syndactyly Syndrome 2

MalaCards integrated aliases for Ectodermal Dysplasia-Syndactyly Syndrome 2:

Name: Ectodermal Dysplasia-Syndactyly Syndrome 2 57 13 73
Edss2 57 59
Ectodermal Dysplasia-Cutaneous Syndactyly Syndrome 59
Edcs 59

Characteristics:

Orphanet epidemiological data:

59
ectodermal dysplasia-cutaneous syndactyly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ectodermal dysplasia-syndactyly syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ectodermal Dysplasia-Syndactyly Syndrome 2

MalaCards based summary : Ectodermal Dysplasia-Syndactyly Syndrome 2, also known as edss2, is related to ectodermal dysplasia-syndactyly syndrome 1 and ectodermal dysplasia. An important gene associated with Ectodermal Dysplasia-Syndactyly Syndrome 2 is EDSS2 (Ectodermal Dysplasia-Syndactyly Syndrome 2). Affiliated tissues include skin, and related phenotypes are thin upper lip vermilion and macrotia

Description from OMIM: 613576

Related Diseases for Ectodermal Dysplasia-Syndactyly Syndrome 2

Diseases in the Ectodermal Dysplasia-Syndactyly Syndrome 1 family:

Ectodermal Dysplasia-Syndactyly Syndrome 2

Diseases related to Ectodermal Dysplasia-Syndactyly Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia-syndactyly syndrome 1 10.9
2 ectodermal dysplasia 10.2
3 hepatocellular carcinoma 9.9
4 suppressor of tumorigenicity 3 9.9
5 ectropion 9.9
6 cervicitis 9.9

Graphical network of the top 20 diseases related to Ectodermal Dysplasia-Syndactyly Syndrome 2:



Diseases related to Ectodermal Dysplasia-Syndactyly Syndrome 2

Symptoms & Phenotypes for Ectodermal Dysplasia-Syndactyly Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
hyperhidrosis
palmoplantar keratoderma
follicular hyperkeratosis
hard scaly skin
epidermolytic hyperkeratosis, mild

Skin Nails Hair Hair:
hypotrichosis
thin body hairs

Head And Neck Ears:
large, prominent pinnae

Head And Neck Mouth:
thin upper lips

Skeletal Feet:
syndactyly, bilateral partial cutaneous

Cardiovascular Heart:
cardiomegaly

Head And Neck Teeth:
enamel hypoplasia

Head And Neck Nose:
pointed nose

Skeletal Hands:
syndactyly, bilateral partial cutaneous

Skin Nails Hair Nails:
hypoplastic flat nails
yellowish fingernails
yellowish toenails


Clinical features from OMIM:

613576

Human phenotypes related to Ectodermal Dysplasia-Syndactyly Syndrome 2:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 thin upper lip vermilion 32 HP:0000219
2 macrotia 32 HP:0000400
3 ectodermal dysplasia 32 HP:0000968
4 hyperhidrosis 32 HP:0000975
5 palmoplantar keratoderma 32 HP:0000982
6 hypotrichosis 32 HP:0001006
7 syndactyly 32 HP:0001159
8 cardiomegaly 32 HP:0001640
9 hypoplasia of dental enamel 32 HP:0006297
10 congenital bullous ichthyosiform erythroderma 32 HP:0007475
11 follicular hyperkeratosis 32 HP:0007502

Drugs & Therapeutics for Ectodermal Dysplasia-Syndactyly Syndrome 2

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia-Syndactyly Syndrome 2

Genetic Tests for Ectodermal Dysplasia-Syndactyly Syndrome 2

Anatomical Context for Ectodermal Dysplasia-Syndactyly Syndrome 2

MalaCards organs/tissues related to Ectodermal Dysplasia-Syndactyly Syndrome 2:

41
Skin

Publications for Ectodermal Dysplasia-Syndactyly Syndrome 2

Articles related to Ectodermal Dysplasia-Syndactyly Syndrome 2:

# Title Authors Year
1
A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome. ( 29430627 )
2018
2
Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3. ( 19221800 )
2009

Variations for Ectodermal Dysplasia-Syndactyly Syndrome 2

Expression for Ectodermal Dysplasia-Syndactyly Syndrome 2

Search GEO for disease gene expression data for Ectodermal Dysplasia-Syndactyly Syndrome 2.

Pathways for Ectodermal Dysplasia-Syndactyly Syndrome 2

GO Terms for Ectodermal Dysplasia-Syndactyly Syndrome 2

Sources for Ectodermal Dysplasia-Syndactyly Syndrome 2

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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