EDSS2
MCID: ECT041
MIFTS: 35

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 56 13 71
Edss2 56 58
Ectodermal Dysplasia-Cutaneous Syndactyly Syndrome 58
Edcs 58

Characteristics:

Orphanet epidemiological data:

58
ectodermal dysplasia-cutaneous syndactyly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
ectodermal dysplasia-syndactyly syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


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 macrotia and hyperhidrosis

More information from OMIM: 613576 PS613573

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 35)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia-syndactyly syndrome 1 11.3
2 chromosome 2q35 duplication syndrome 10.4
3 ectodermal dysplasia 10.4
4 palmoplantar keratosis 10.2
5 hypotrichosis 10.2
6 yemenite deaf-blind hypopigmentation syndrome 10.2
7 infant gynecomastia 10.2
8 gynecomastia 10.2
9 skin disease 10.2
10 end stage renal disease 10.2
11 47,xyy 10.2
12 arteries, anomalies of 10.0
13 breast cancer 10.0
14 colorectal cancer 10.0
15 hepatocellular carcinoma 10.0
16 suppressor of tumorigenicity 3 10.0
17 cryptorchidism, unilateral or bilateral 10.0
18 osteogenic sarcoma 10.0
19 stuve-wiedemann syndrome 10.0
20 cervical cancer 10.0
21 microvascular complications of diabetes 5 10.0
22 hyperlipoproteinemia, type iii 10.0
23 helix syndrome 10.0
24 lipoprotein quantitative trait locus 10.0
25 chronic ulcer of skin 10.0
26 corneal disease 10.0
27 premature menopause 10.0
28 ovarian disease 10.0
29 diphtheria 10.0
30 autonomic neuropathy 10.0
31 polycystic ovary syndrome 10.0
32 46 xx gonadal dysgenesis 10.0
33 ectropion 10.0
34 dermatitis 10.0
35 precocious puberty 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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 macrotia 31 HP:0000400
2 hyperhidrosis 31 HP:0000975
3 cardiomegaly 31 HP:0001640
4 palmoplantar keratoderma 31 HP:0000982
5 thin upper lip vermilion 31 HP:0000219
6 sparse hair 31 HP:0008070
7 follicular hyperkeratosis 31 HP:0007502
8 hypoplasia of dental enamel 31 HP:0006297
9 ectodermal dysplasia 31 HP:0000968
10 syndactyly 31 HP:0001159
11 congenital bullous ichthyosiform erythroderma 31 HP:0007475

Symptoms via clinical synopsis from OMIM:

56
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 12)
# 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 Pharmaceutical Solutions Phase 2, Phase 3
4 Immunosuppressive Agents Phase 2, Phase 3
5 Immunologic Factors Phase 2, Phase 3
6 Calcineurin Inhibitors Phase 2, Phase 3
7 Liver Extracts Phase 2, Phase 3
8
Nicotine Approved 54-11-5 942 89594
9
Bisphenol A Experimental 80-05-7 6623
10 Hormones
11 Endocrine Disruptors
12 Estrogens

Interventional clinical trials:

(show all 12)
# 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 Prenatal and Postnatal Determinants in Shaping Offspring's Microbiota in the First Year of Life: A Study Protocol Completed NCT04122612
10 Association of Breast and Gut Microbiota Dysbiosis and the Risk of Breast Cancer Recruiting NCT03885648
11 Analysis of Toxins in Follicle Fluid From Women With Unfulfilled Pregnancy Active, not recruiting NCT01385605
12 Blood Sampling and Extended Dwell Catheters: A Randomized Trial of Blood Sampling Functionality Based on Site Selection Not yet recruiting NCT04409418

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:

40
Breast, Thyroid, Testes, Brain, Liver, Skin, Prostate

Publications for Ectodermal Dysplasia-Syndactyly Syndrome 2

Articles related to Ectodermal Dysplasia-Syndactyly Syndrome 2:

(show top 50) (show all 2492)
# Title Authors PMID Year
1
Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3. 61 56
19221800 2009
2
Mechanistic in silico modeling of bisphenols to predict estrogen and glucocorticoid disrupting potentials. 61
32570315 2020
3
Acute BPA exposure-induced oxidative stress, depressed immune genes expression and damage of hepatopancreas in red swamp crayfish Procambarus clarkii. 61
32325215 2020
4
Occurrence, mass loads and risks of bisphenol analogues in the Pearl River Delta region, South China: Urban rainfall runoff as a potential source for receiving rivers. 61
32203855 2020
5
Octylphenol facilitates fermentative volatile fatty acids recovery from waste activated sludge. 61
32498178 2020
6
Toddler behavior, the home environment, and flame retardant exposure. 61
32229360 2020
7
Investigating (anti)estrogenic activities within South African wastewater and receiving surface waters: Implication for reliable monitoring. 61
32247920 2020
8
Human exposure to synthetic endocrine disrupting chemicals (S-EDCs) is generally negligible as compared to natural compounds with higher or comparable endocrine activity. How to evaluate the risk of the S-EDCs? 61
32370863 2020
9
Effects of endocrine disrupting chemicals in pigs. 61
32268228 2020
10
Seasonal variation and the distribution of endocrine-disrupting chemicals in various matrices affected by algae in the eutrophic water environment of the pearl river delta, China. 61
32283455 2020
11
Occurrence and assessment of environmental risks of endocrine disrupting compounds in drinking, surface and wastewaters in Serbia. 61
32443213 2020
12
Development and validation of a liquid chromatography/tandem mass spectrometry method to quantify metabolites of phthalates, including di-2-ethylhexyl terephthalate (DEHTP) and bisphenol A, in human urine. 61
32246863 2020
13
Endocrine disrupting chemicals associated with dry eye syndrome. 61
31958513 2020
14
Differential mechanisms regarding triclosan vs. bisphenol A and fluorene-9-bisphenol induced zebrafish lipid-metabolism disorders by RNA-Seq. 61
32143076 2020
15
Placenta Disrupted: Endocrine Disrupting Chemicals and Pregnancy. 61
32249015 2020
16
Endocrine disrupting compounds in the middle and lower reaches of the Lhasa River Basin: Occurrence, distribution, and risk assessment. 61
32330726 2020
17
Transcriptional changes caused by estrogenic endocrine disrupting chemicals in gonad-mesonephros complexes of genetic male Xenopus laevis: Multiple biomarkers for early detection of testis differentiation disruption. 61
32335401 2020
18
Possible effect of submarine groundwater discharge on the pollution of coastal water: Occurrence, source, and risks of endocrine disrupting chemicals in coastal groundwater and adjacent seawater influenced by reclaimed water irrigation. 61
32126332 2020
19
Maternal exposure to organophosphate flame retardants alters locomotor and anxiety-like behavior in male and female adult offspring. 61
32320692 2020
20
Plastics derived endocrine-disrupting compounds and their effects on early development. 61
32476245 2020
21
Exposure to a Glyphosate-based Herbicide Alters the Expression of Key Regulators of Mammary Gland Development on Pre-pubertal Male Rats. 61
32360609 2020
22
Long term transcriptional and behavioral effects in mice developmentally exposed to a mixture of endocrine disruptors associated with delayed human neurodevelopment. 61
32518293 2020
23
Persistent endocrine-disrupting chemicals found in human follicular fluid stimulate IGF1 secretion by adult ovarian granulosa cell tumor spheroids and thereby increase proliferation of non-cancer ovarian granulosa cells. 61
31923581 2020
24
Depot-Specific Analysis of Human Adipose Cells and Their Responses to Bisphenol S. 61
32170302 2020
25
Exposure to Endocrine Disrupting Chemicals in the Dutch general population is associated with adiposity-related traits. 61
32518352 2020
26
Histopathologic, apoptotic and autophagic, effects of prenatal bisphenol A and/or di(2-ethylhexyl) phthalate exposure on prepubertal rat testis. 61
32239407 2020
27
The association between prenatal endocrine-disrupting chemical exposure and altered resting-state brain fMRI in teenagers. 61
32448957 2020
28
Effects of bisphenol A, diethylhexyl phthalate and pentabrominated diphenyl ether 99 on steroid synthesis in cultured bovine luteal cells. 61
32125030 2020
29
Vitamin D3 Ameliorates DNA Damage Caused by Developmental Exposure to Endocrine Disruptors in the Uterine Myometrial Stem Cells of Eker Rats. 61
32545544 2020
30
Toxicity of polybrominated diphenyl ethers (PBDEs) on rodent male reproductive system: A systematic review and meta-analysis of randomized control studies. 61
32325560 2020
31
Neonatal exposure to environment-relevant levels of tributyltin leads to uterine dysplasia in rats. 61
32325588 2020
32
Perinatal Exposure to Triclosan Results in Abnormal Brain Development and Behavior in Mice. 61
32503345 2020
33
The ENDpoiNTs Project: Novel Testing Strategies for Endocrine Disruptors Linked to Developmental Neurotoxicity. 61
32492937 2020
34
Exposure to low doses of Dechlorane Plus promotes adipose tissue dysfunction and glucose intolerance in male mice. 61
32556108 2020
35
Single-Cell Distribution Analysis of AR Levels by High-Throughput Microscopy in Cell Models: Application for Testing Endocrine-Disrupting Chemicals. 61
32552291 2020
36
Structure-based Identification of Endocrine Disrupting Pesticides Targeting Breast Cancer Proteins. 61
32278787 2020
37
Parental exposure to bisphenol A affects pharyngeal cartilage development and causes global transcriptomic changes in zebrafish (Danio rerio) offspring. 61
32208220 2020
38
Combined effects of BPA and PFOS on fetal cardiac development: in vitro and in vivo experiments. 61
32544427 2020
39
Significance of and Challenges in Regulating Endocrine Disruptors - How Regulators and Industry can Conquer? 61
32504507 2020
40
Human exposure to synthetic endocrine disrupting chemicals (S-EDCs) is generally negligible as compared to natural compounds with higher or comparable endocrine activity. How to evaluate the risk of the S-EDCs? 61
32552445 2020
41
Human exposure to synthetic endocrine disrupting chemicals (S-EDCs) is generally negligible as compared to natural compounds with higher or comparable endocrine activity: how to evaluate the risk of the S-EDCs? 61
32514609 2020
42
Mybl2 rejuvenates heart explant-derived cells from aged donors after myocardial infarction. 61
32558221 2020
43
Disruption of fertility, placenta, pregnancy outcome, and multigenerational inheritance of hepatic steatosis by organotin exposure from contaminated seafood in rats. 61
32213410 2020
44
Puerarin Inhibits Endothelium-Dependent Contractions in Mouse Carotid Arteries. 61
32555127 2020
45
Prenatal exposure to endocrine disrupting chemicals and asthma and allergic diseases. 61
32490822 2020
46
Endocrine disrupting compounds, pharmaceuticals and personal care products in the aquatic environment of China: Which chemicals are the prioritized ones? 61
32146411 2020
47
Exposure to endocrine-disrupting chemicals and anthropometric measures of obesity: a systematic review and meta-analysis. 61
32565448 2020
48
Perspective on Health Effects of Endocrine Disruptors with a Focus on Data Gaps. 61
32250608 2020
49
Fetal-Maternal Exposure to Endocrine Disruptors: Correlation with Diet Intake and Pregnancy Outcomes. 61
32545151 2020
50
The GOLIATH Project: Towards an Internationally Harmonised Approach for Testing Metabolism Disrupting Compounds. 61
32423144 2020

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
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44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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