EDSS2
MCID: ECT041
MIFTS: 24

Ectodermal Dysplasia-Syndactyly Syndrome 2 (EDSS2)

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

Aliases & Classifications for Ectodermal Dysplasia-Syndactyly Syndrome 2

MalaCards integrated aliases for Ectodermal Dysplasia-Syndactyly Syndrome 2:

Name: Ectodermal Dysplasia-Syndactyly Syndrome 2 58 13 74
Edss2 58 60
Ectodermal Dysplasia-Cutaneous Syndactyly Syndrome 60
Edcs 60

Characteristics:

Orphanet epidemiological data:

60
ectodermal dysplasia-cutaneous syndactyly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
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 nance-horan syndrome. An important gene associated with Ectodermal Dysplasia-Syndactyly Syndrome 2 is EDSS2 (Ectodermal Dysplasia-Syndactyly Syndrome 2). Affiliated tissues include skin and ovary, and related phenotypes are hyperhidrosis 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:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia-syndactyly syndrome 1 11.1
2 nance-horan syndrome 10.6
3 chromosome 2q35 duplication syndrome 10.4
4 ectodermal dysplasia 10.4
5 arteries, anomalies of 10.0
6 hepatocellular carcinoma 10.0
7 suppressor of tumorigenicity 3 10.0
8 coronary artery anomaly 10.0
9 diabetes mellitus 10.0
10 polycystic ovary syndrome 10.0
11 ovarian disease 10.0
12 ectropion 10.0
13 dermatitis 10.0

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

Human phenotypes related to Ectodermal Dysplasia-Syndactyly Syndrome 2:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 33 HP:0000975
2 macrotia 33 HP:0000400
3 cardiomegaly 33 HP:0001640
4 palmoplantar keratoderma 33 HP:0000982
5 hypotrichosis 33 HP:0001006
6 thin upper lip vermilion 33 HP:0000219
7 follicular hyperkeratosis 33 HP:0007502
8 syndactyly 33 HP:0001159
9 hypoplasia of dental enamel 33 HP:0006297
10 ectodermal dysplasia 33 HP:0000968
11 congenital bullous ichthyosiform erythroderma 33 HP:0007475

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Ectodermal Dysplasia-Syndactyly Syndrome 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Changes in Physical Activity in All Day Life in People With MS Before and After Rehabilitation Recruiting NCT03769636

Search 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:

42
Skin, Ovary

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 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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