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 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 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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 31 HP:0000975
2 macrotia 31 HP:0000400
3 cardiomegaly 31 HP:0001640
4 palmoplantar keratoderma 31 HP:0000982
5 thin upper lip vermilion 31 HP:0000219
6 hypotrichosis 31 HP:0001006
7 follicular hyperkeratosis 31 HP:0007502
8 syndactyly 31 HP:0001159
9 hypoplasia of dental enamel 31 HP:0006297
10 ectodermal dysplasia 31 HP:0000968
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 24)
# 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 Liver Extracts Phase 2, Phase 3
4 Pharmaceutical Solutions Phase 2, Phase 3
5 Immunosuppressive Agents Phase 2, Phase 3
6 Immunologic Factors 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
Perillyl alcohol Investigational 18457-55-1, 536-59-4 10819
13
Bisphenol A 80-05-7 6623
14 Neurotransmitter Agents
15 Central Nervous System Stimulants
16 Autonomic Agents
17 Cholinergic Agents
18 Nicotinic Agonists
19 Endocrine Disruptors
20 Estrogens
21 Hormone Antagonists
22 Hormones
23 Micronutrients
24 Trace Elements

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 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:

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

Publications for Ectodermal Dysplasia-Syndactyly Syndrome 2

Articles related to Ectodermal Dysplasia-Syndactyly Syndrome 2:

(show top 50) (show all 2385)
# Title Authors PMID Year
1
Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3. 61 56
19221800 2009
2
Novel PEP-PAN@PSF rods extraction of EDCs in environmental water, sediment, and fish homogenate followed by pre-column derivatization and UHPLC-MS/MS detection. 61
31987165 2020
3
Disruption of 17β-estradiol secretion by persistent organic pollutants present in human follicular fluid is dependent on the potential of ovarian granulosa tumor cell lines to metabolize estrogen. 61
31891770 2020
4
Changes in vitellogenin and estrogen receptor expression and 17β-estradiol concentration in male juvenile tilapia can be used to evaluate endocrine-disrupting chemicals. 61
31816426 2020
5
Genetic evidence for estrogenicity of bisphenol A in zebrafish gonadal differentiation and its signalling mechanism. 61
31887561 2020
6
Effect of agricultural pesticide on precocious puberty in urban children: an explorative study. 61
32024321 2020
7
Endometriosis, endocrine disrupters, and epigenetics: an investigation into the complex interplay in women with polybrominated biphenyl exposure and endometriosis. 61
32026200 2020
8
Involvement of the Endocrine-Disrupting Chemical Bisphenol A (BPA) in Human Placentation. 61
32028606 2020
9
Veterinary growth promoters in cattle feedlot runoff: estrogenic activity and potential effects on the rat male reproductive system. 61
32034597 2020
10
Association between phthalate exposure and blood pressure during pregnancy. 61
31757513 2020
11
Assessing endocrine disruption in freshwater fish species from a "hotspot" for estrogenic activity in sediment. 61
31780365 2020
12
Rapid, sensitive and simultaneous determination of 16 endocrine-disrupting chemicals (parabens, benzophenones, bisphenols, and triclocarban) in human urine based on microextraction by packed sorbent combined with liquid chromatography tandem mass spectrometry (MEPS-LC-MS/MS). 61
31574445 2020
13
Oxidative Oligomerization of Phenolic Endocrine Disrupting Chemicals Mediated by Mn(III)-L Complexes and the Role of Phenoxyl Radicals in the Enhanced Removal: Experimental and Theoretical Studies. 61
31886653 2020
14
Maternal Exposure to Environmental Disruptors and Sexually Dimorphic Changes in Maternal and Neonatal Oxidative Stress. 61
31613966 2020
15
Visible light and fulvic acid assisted generation of Mn(III) to oxidize bisphenol A: The effect of tetrabromobisphenol A. 61
31733622 2020
16
Aquatic macroinvertebrates under stress: Bioaccumulation of emerging contaminants and metabolomics implications. 61
31822419 2020
17
Disruption of male mating strategies in a chemically compromised environment. 61
31757546 2020
18
Determination of endocrine disrupting chemicals in human nails using an alkaline digestion prior to ultra-high performance liquid chromatography-tandem mass spectrometry. 61
31816786 2020
19
Novel cyclodextrin-based adsorbents for removing pollutants from wastewater: A critical review. 61
31683417 2020
20
Assessment of water contamination and health risk of endocrine disrupting chemicals in outdoor and indoor swimming pools. 61
31831230 2020
21
Benzyl butyl phthalate (BBP) triggers the malignancy of acute myeloid leukemia cells via upregulation of PDK4. 61
31629899 2020
22
Nuclear receptors are the major targets of endocrine disrupting chemicals. 61
31760044 2020
23
Quartz crystal microbalance-based method to study adsorption of endocrine disruptor compounds on zeolite. 61
31973683 2020
24
The association between gestational use of personal care products and neonatal urological abnormality at birth: The Japan Environment and Children's Study. 61
31978451 2020
25
Occurrence of endocrine disrupting compounds in mariculture sediment of Pulau Kukup, Johor, Malaysia. 61
31784268 2020
26
Effect-Directed Analysis of Progestogens and Glucocorticoids at Trace Concentrations in River Water. 61
31614391 2020
27
Potentilla rugulosa Nakai Extract Attenuates Bisphenol A-, S- and F-Induced ROS Production and Differentiation of 3T3-L1 Preadipocytes in the Absence of Dexamethasone. 61
32012803 2020
28
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
29
Developmental instability is associated with estrogenic endocrine disruption in the Chilean native fish species, Trichomycterus areolatus. 61
31982740 2020
30
Transgenerational effect of parental obesity and chronic parental bisphenol A exposure on hormonal profile and reproductive organs of preadolescent Wistar rats of F1 generation: A one-generation study. 61
31510804 2020
31
Mechanism investigation on the enhanced photocatalytic oxidation of nonylphenol on hydrophobic TiO2 nanotubes. 61
31446350 2020
32
Assessment of the Risks of the Major Use Antibiotics in China's Surface Waters Using a Probabilistic Approach. 61
31393058 2020
33
Receptor-mediated estrogenicity of native and chemically dispersed crude oil determined using adapted microscale reporter gene assays. 61
31739133 2020
34
The occurrence and risk assessment of phenolic endocrine-disrupting chemicals in Egypt's drinking and source water. 61
31758477 2020
35
Mini-review: Epigenetic mechanisms that promote transgenerational actions of endocrine disrupting chemicals: Applications to behavioral neuroendocrinology. 61
31927019 2020
36
Urinary concentrations of phthalate metabolites during gestation and intrahepatic cholestasis of pregnancy: a population-based birth cohort study. 61
31975012 2020
37
Phthalates, bisphenols, parabens, and triclocarban in feminine hygiene products from the United States and their implications for human exposure. 61
31945693 2020
38
Consensus on the key characteristics of endocrine-disrupting chemicals as a basis for hazard identification. 61
31719706 2020
39
Assessment of the potential ecological risk of residual endocrine-disrupting chemicals from wastewater treatment plants. 61
31978772 2020
40
Development and characterization of a human cell line-based transactivation assay to assess thyroid EDCs. 61
31918317 2020
41
Prediction of adsorption capacity for pharmaceuticals, personal care products and endocrine disrupting chemicals onto various adsorbent materials. 61
31548174 2020
42
Seasonal distribution, risks, and sources of endocrine disrupting chemicals in coastal waters: Will these emerging contaminants pose potential risks in marine environment at continental-scale? 61
31978658 2020
43
Synthesis of magnetic amino-functionalized microporous organic network composites for magnetic solid phase extraction of endocrine disrupting chemicals from water, beverage bottle and juice samples. 61
31514881 2020
44
Wnt pathway: A mechanism worth considering in endocrine disrupting chemical action. 61
31914870 2020
45
Bi-enzymatic virus-like bionanoreactors for the transformation of endocrine disruptor compounds. 61
31911175 2020
46
Review of the Effects of Perinatal Exposure to Endocrine-Disrupting Chemicals in Animals and Humans. 61
31129734 2020
47
Endocrine disrupting chemicals associated with dry eye syndrome. 61
31958513 2020
48
Early prenatal exposure to suspected endocrine disruptor mixtures is associated with lower IQ at age seven. 61
31668669 2020
49
Screening of chemicals with binding activities of liver X receptors from reclaimed waters. 61
31954245 2020
50
Lateral flow aptasensor for progesterone: Competitive target recognition and displacement of short complementary sequences. 61
31577917 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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
Content
Loading form....