EDSS2
MCID: ECT041
MIFTS: 36

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 57 13 72
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:



External Ids:

ICD10 via Orphanet 34 Q82.8
Orphanet 59 ORPHA247827
MedGen 42 C3150809
UMLS 72 C3150809

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 chromosome 2q35 duplication syndrome. An important gene associated with Ectodermal Dysplasia-Syndactyly Syndrome 2 is EDSS2 (Ectodermal Dysplasia-Syndactyly Syndrome 2). The drugs Antirheumatic Agents and Tacrolimus have been mentioned in the context of this disorder. Affiliated tissues include breast, thyroid and testes, and related phenotypes are hyperhidrosis and macrotia

More information from OMIM: 613576 PS613573

Related Diseases for Ectodermal Dysplasia-Syndactyly Syndrome 2

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:

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

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

Drugs & Therapeutics for Ectodermal Dysplasia-Syndactyly Syndrome 2

Drugs for Ectodermal Dysplasia-Syndactyly Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antirheumatic Agents Phase 4
2
Tacrolimus Approved, Investigational Phase 2, Phase 3 104987-11-3 445643 439492 6473866
3 Immunologic Factors Phase 2, Phase 3
4 Pharmaceutical Solutions Phase 2, Phase 3
5 Immunosuppressive Agents Phase 2, Phase 3
6 Liver Extracts Phase 2, Phase 3
7 Calcineurin Inhibitors Phase 2, Phase 3
8
Nicotine Approved 54-11-5 942 89594
9
Ethanol Approved 64-17-5 702
10
Indole Experimental 120-72-9 798
11
Indole-3-carbinol Investigational 700-06-1 3712
12
Bisphenol A 80-05-7 6623
13 Hormone Antagonists
14 Hormones, Hormone Substitutes, and Hormone Antagonists
15 Neurotransmitter Agents
16 Cholinergic Agents
17 Central Nervous System Stimulants
18 Nicotinic Agonists
19 Autonomic Agents
20 Peripheral Nervous System Agents
21 Endocrine Disruptors
22 Estrogens
23 Hormones
24 Micronutrients
25 Trace Elements
26
Perillyl alcohol 536-59-4 10819

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Randomized, Open Study to Evaluate the Impact of an Electronic Data Capture System on the Care of Patients With Rheumatoid Arthritis Completed NCT00378261 Phase 4
2 TOP-Study (Tacrolimus Organ Perfusion): A Prospective Multicenter Trial for Treatment of Ischemia Reperfusion Injury in Marginal Organs With an ex Vivo Tacrolimus Perfusion Terminated NCT01564095 Phase 2, Phase 3 Tacrolimus;HTK/Placebo
3 Oxidative Stress and BPA Impact With PCOS Unknown status NCT01600872
4 Serum Markers of OS, Inflammation, and EDCs and Impact on the Menstrual Cycle and Reproductive Hormone in Taiwanese Women Unknown status NCT01996631
5 Oxidative Stress and Endothelial Function in Pregnancy Complications: Development of a New Screening Algorithm Unknown status NCT02603913
6 Verification of Pulse Oximetry in Neonatal Population Completed NCT00751439
7 Projeto JOIN - o ar Como Meio de prevenção e a diagnóstico da Asma e Alergia Completed NCT02802891
8 Taking Action to Thrive - A Healthy Lifestyle Intervention Pilot Study Completed NCT03478345
9 Association of Breast and Gut Microbiota Dysbiosis and the Risk of Breast Cancer Recruiting NCT03885648
10 Analysis of Toxins in Follicle Fluid From Women With Unfulfilled Pregnancy Active, not recruiting NCT01385605
11 Gene Expression Control Using Micro-Trace Element Compounds During C.A.M., Adjunct Therapy and Conventional Cancer Protocols Not yet recruiting NCT00910884

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:

41
Breast, Thyroid, Testes, Brain, Liver, Skin, Endothelial

Publications for Ectodermal Dysplasia-Syndactyly Syndrome 2

Articles related to Ectodermal Dysplasia-Syndactyly Syndrome 2:

(show top 50) (show all 2286)
# Title Authors PMID Year
1
Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3. 38 8
19221800 2009
2
Review of the Effects of Perinatal Exposure to Endocrine-Disrupting Chemicals in Animals and Humans. 38
31129734 2020
3
Deep learning driven QSAR model for environmental toxicology: Effects of endocrine disrupting chemicals on human health. 38
31302400 2019
4
Learning and behavior in hatchling Trachemys scripta exposed to bisphenol-a during embryonic development. 38
31301326 2019
5
Leaching of endocrine disrupting chemicals from marine microplastics and mesoplastics under common life stress conditions. 38
31234003 2019
6
Changes in fish sex ratio as a basis for regulating endocrine disruptors. 38
31277008 2019
7
Transcriptomic points-of-departure from short-term exposure studies are protective of chronic effects for fish exposed to estrogenic chemicals. 38
31226361 2019
8
Bioavailability of estrogenic compounds from sediment in the context of flood events evaluated by passive sampling. 38
31233966 2019
9
Spatiotemporal evolvement and factors influencing natural and synthetic EDCs and the microbial community at different groundwater depths in the Chaobai watershed: A long-term field study on a river receiving reclaimed water. 38
31212218 2019
10
A mechanism for the effect of endocrine disrupting chemicals on placentation. 38
31132539 2019
11
Acute toxicity of bisphenol A and its structural analogues and transcriptional modulation of the ecdysone-mediated pathway in the brackish water flea Diaphanosoma celebensis. 38
31030948 2019
12
Exposure to environmental pollutants and a marker of early kidney injury in the general population: Results of a nationally representative cross-sectional study based on the Korean National Environmental Health Survey (KoNEHS) 2012-2014. 38
31103655 2019
13
Occurrence, distribution, bioaccumulation, and ecological risk of bisphenol analogues, parabens and their metabolites in the Pearl River Estuary, South China. 38
31063942 2019
14
A pilot study on polycystic ovarian syndrome caused by neonatal exposure to tributyltin and bisphenol A in rats. 38
31129395 2019
15
Environmental exposure to polybrominated biphenyl (PBB) associates with an increased rate of biological aging. 38
31375641 2019
16
The risk of endometriosis after exposure to endocrine-disrupting chemicals: a meta-analysis of 30 epidemiology studies. 38
30907174 2019
17
The Effects of Endocrine Disrupting Chemicals on Biomarkers of Inflammation Produced by Lipopolysaccharide Stimulated RAW264.7 Macrophages. 38
31416231 2019
18
Association of self-reported personal care product use with blood glucose levels measured during pregnancy among women from a fertility clinic. 38
31421341 2019
19
Estrogenic compounds as exogenous modulators of physiological functions in molluscs: Signaling pathways and biological responses. 38
31055067 2019
20
Rapid and sensitive determination of bisphenol A using aptamer and split DNAzyme. 38
31026631 2019
21
Targeted impact of cyproterone acetate on the sexual reproduction of female rotifers. 38
31197615 2019
22
Novel insights of elevated systemic levels of bisphenol-A (BPA) linked to poor glycemic control, accelerated cellular senescence and insulin resistance in patients with type 2 diabetes. 38
31004310 2019
23
Hydrophilic divinylbenzene for equilibrium sorption of emerging organic contaminants in aquatic matrices. 38
31378062 2019
24
Assessment of the risks of the major use antibiotics in China's surface waters using a probabilistic approach. 38
31393058 2019
25
Lavender products associated with premature thelarche and prepubertal gynecomastia: Case reports and EDC activities. 38
31393563 2019
26
Chronic dietary administration of lower levels of diethyl phthalate induces murine testicular germ cell inflammation and sperm pathologies: Involvement of oxidative stress. 38
31085347 2019
27
The treatability of trace organic pollutants in WWTP effluent and associated biotoxicity reduction by advanced treatment processes for effluent quality improvement. 38
31121410 2019
28
Environmental exposure to oestrogenic endocrine disruptors mixtures reflecting on gonadal sex steroids and gametogenesis of the neotropical fishAstyanax rivularis. 38
30605662 2019
29
In utero and peripubertal metals exposure in relation to reproductive hormones and sexual maturation and progression among girls in Mexico City. 38
31421446 2019
30
Autophagy in male reproduction. 38
31014114 2019
31
Closed rupture of extensor tendon resulting from untreated Kienböck disease: A case report and a review of the literature. 38
31415435 2019
32
Study of possible association between endometriosis and phthalate and bisphenol A by biomarkers analysis. 38
31063881 2019
33
Influence of the geophagous earthworm Aporrectodea sp. on fate of bisphenol A and a branched 4-nonylphenol isomer in soil. 38
31362227 2019
34
Endocrine disrupters and possible contribution to pubertal changes. 38
31401055 2019
35
Development and Interlaboratory Validation of Two Fast UPLC-MS-MS Methods Determining Urinary Bisphenols, Parabens and Phthalates. 38
31044238 2019
36
Update on Activities in Endocrine Disruptor Research and Policy. 38
31070722 2019
37
In silico predictions of endocrine disruptors properties. 38
31265055 2019
38
Exposure to indoor endocrine-disrupting chemicals and childhood asthma and obesity. 38
30740706 2019
39
Macrophages Guard Endothelial Lineage by Hindering Endothelial-to-Mesenchymal Transition: Implications for the Pathogenesis of Systemic Sclerosis. 38
31127033 2019
40
Occupational exposure to endocrine-disrupting chemicals and other parental risk factors in hypospadias and cryptorchidism development: a case-control study. 38
31405798 2019
41
A curated knowledgebase on endocrine disrupting chemicals and their biological systems-level perturbations. 38
31349169 2019
42
Binding of iodinated contrast media (ICM) and their transformation products with hormone receptors: Are ICM the new EDCs? 38
31336298 2019
43
Study of the adsorption of endocrine disruptor compounds on typical filter materials using a quartz crystal microbalance. 38
31102210 2019
44
Bioaccumulation, metabolism, and risk assessment of phenolic endocrine disrupting chemicals in specific tissues of wild fish. 38
30954895 2019
45
Accurately quantifying the reductive capacity of microbial extracellular polymeric substance by mediated electrochemical oxidation method. 38
30995588 2019
46
Impacts of the synthetic androgen Trenbolone on gonad differentiation and development - comparisons between three deeply diverged anuran families. 38
31270347 2019
47
Identification of potential endocrine disrupting chemicals using gene expression biomarkers. 38
31325560 2019
48
Distribution patterns and ecological risk of endocrine-disrupting chemicals at Qingduizi Bay (China): A preliminary survey in a developing maricultured bay. 38
31426236 2019
49
Adsorptive removal of bisphenol A from aqueous solutions using phosphonated levan. 38
30978629 2019
50
Prenatal exposures to bisphenol A and di (2-ethylhexyl) phthalate disrupted seminiferous tubular development in growing male rats. 38
31369804 2019

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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