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 70
Edss2 57 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®:

57 (Updated 05-Apr-2021)
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 chromosome 2q35 duplication syndrome and ectodermal dysplasia. An important gene associated with Ectodermal Dysplasia-Syndactyly Syndrome 2 is EDSS2 (Ectodermal Dysplasia-Syndactyly Syndrome 2). The drugs Dimenhydrinate and Hyaluronic acid have been mentioned in the context of this disorder. Affiliated tissues include thyroid, breast and prostate, 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 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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dimenhydrinate Approved Phase 4 523-87-5 441281
2
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
3 Anesthetics Phase 4
4 Anesthetics, General Phase 4
5 Pharmaceutical Solutions Phase 4
6 Carboxymethylcellulose Sodium Phase 4
7
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
8
Dasatinib Approved, Investigational Phase 1 302962-49-8 3062316
9
Carboplatin Approved Phase 1 41575-94-4 10339178 498142 38904
10 Tubulin Modulators Phase 1
11 Antimitotic Agents Phase 1
12 Albumin-Bound Paclitaxel Phase 1
13 Protein Kinase Inhibitors Phase 1
14 Antibodies Phase 1
15 Immunoglobulins Phase 1
16 Hormones

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Early Nerve Reconstruction Approach in Tetraplegic Patients With Dysfunctional Upper Extremity: a Randomized Controlled Trial. Unknown status NCT01579604 Phase 4
2 The Role of Seprafilm Bioresorbable Slurry in the Prevention of Intrauterine Synechiae in Patients Undergoing Hysteroscopic Myomectomy Terminated NCT01632202 Phase 4
3 A Phase I Trial of A SRC Kinase Inhibitor, Dasatinib,in Combination With Paclitaxel and Carboplatin in Patients With Advanced or Recurrent Ovarian, Peritoneal, and Tubal Cancer Completed NCT00672295 Phase 1 Dasatinib, Paclitaxel, and Carboplatin
4 An Experimental Medicine Study Modelling the Interaction Between Rationally-designed Synthetic Model Viral Protein Immunogens and the Breadth of the Induced B and T Cell Repertoires. Recruiting NCT03816137 Phase 1
5 Serum Markers of OS, Inflammation, and EDCs and Impact on the Menstrual Cycle and Reproductive Hormone in Taiwanese Women Unknown status NCT01996631
6 The Clinical Efficacy and Stability of Information and Communication Technology (ICT)- Based Centralized Monitoring System of Asthma Control Monitoring in Asthma Patients: a Prospective, Randomized Controlled, Multicenter Study Unknown status NCT03327363
7 Multi Center Case Control Study on Multiple Risk Factors of Aplastic Anemia Based on EDC Data Management Platform Completed NCT03208647
8 Electrical Stimulation for Upper Limb Recovery in Stroke Completed NCT00142792
9 A Novel Approach to Upper Extremity Amputation to Augment Volitional Control and Restore Proprioception Recruiting NCT03882073
10 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
Thyroid, Breast, Prostate, Testis, Ovary, Pituitary, Endothelial

Publications for Ectodermal Dysplasia-Syndactyly Syndrome 2

Articles related to Ectodermal Dysplasia-Syndactyly Syndrome 2:

(show top 50) (show all 2771)
# Title Authors PMID Year
1
Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3. 61 57
19221800 2009
2
Novel use of coactivators to enhance sensitivity of SEAP-based reporter assay system for visual monitoring and quantitation of androgens and antiandrogens in water. 61
33736142 2021
3
Mapping multiple endocrine disrupting activities in Virginia rivers using effect-based assays. 61
33592464 2021
4
Electrochemical detection of bisphenols in food: A review. 61
33421902 2021
5
Prenatal exposure to mixtures of persistent endocrine disrupting chemicals and early menarche in a population-based cohort of British girls. 61
33592441 2021
6
Occurrence and distribution of endocrine-disrupting chemicals in mariculture fish and the human health implications. 61
33352402 2021
7
Detection of endocrine disrupting chemicals in Danio rerio and Daphnia pulex: Step-one, behavioral screen. 61
33476875 2021
8
Evaluation of testicular toxicity upon fetal exposure to bisphenol A using an organ culture method. 61
33421752 2021
9
Comparative responses of cell growth and related extracellular polymeric substances in Tetraselmis sp. to nonylphenol, bisphenol A and 17α-ethinylestradiol. 61
33545521 2021
10
The occurrence of selected endocrine-disrupting chemicals in water and sediments from an urban lagoon in Southern Italy. 61
33794056 2021
11
Impact of domestic mould exposure on Aspergillus biomarkers and lung function in patients with chronic obstructive pulmonary disease. 61
33577771 2021
12
The E-Morph Assay: Identification and characterization of environmental chemicals with estrogenic activity based on quantitative changes in cell-cell contact organization of breast cancer cells. 61
33549916 2021
13
Identifying environmental exposure profiles associated with timing of menarche: A two-step machine learning approach to examine multiple environmental exposures. 61
33249040 2021
14
Endocrine disrupting chemicals and metabolic disorders in the liver: What if we also looked at the female side? 61
33359838 2021
15
Prenatal exposure to endocrine disrupting chemical mixtures and infant birth weight: A Bayesian analysis using kernel machine regression. 61
33465343 2021
16
Bioaccumulation of estrogenic hormones and UV-filters in red swamp crayfish (Procambarus clarkii). 61
33268253 2021
17
Adipose to serum ratio and mixtures of persistent organic pollutants in relation to endometriosis: Findings from the ENDO Study. 61
33484721 2021
18
Biodegradation of natural and synthetic endocrine-disrupting chemicals by aerobic granular sludge reactor: Evaluating estrogenic activity and estrogens fate. 61
33529898 2021
19
Emerging organic contaminants and odorous compounds in secondary effluent wastewater: Identification and advanced treatment. 61
33370690 2021
20
A targeted review on fate, occurrence, risk and health implications of bisphenol analogues. 61
33352513 2021
21
Seaweeds fast EDC bioremediation: Supporting evidence of EE2 and BPA degradation by the red seaweed Gracilaria sp., and a proposed model for the remedy of marine-borne phenol pollutants. 61
33740605 2021
22
The effects of endocrine disruptors on the male germline: an intergenerational health risk. 61
33660399 2021
23
Predicting Potential Endocrine Disrupting Chemicals Binding to Estrogen Receptor α (ERα) Using a Pipeline Combining Structure-Based and Ligand-Based in Silico Methods. 61
33799614 2021
24
Emerging endocrine disruptors in two edible fish from the Persian Gulf: Occurrence, congener profile, and human health risk assessment. 61
33711611 2021
25
Effects of endocrine disrupting chemicals on myelin development and diseases. 61
33352275 2021
26
Synergistic multiple active species driven fast estrone oxidation by δ-MnO2 in the existence of methanol. 61
33158530 2021
27
Single Cell RNA-Sequencing Uncovers Paracrine Functions of the Epicardial-Derived Cells in Arrhythmogenic Cardiomyopathy. 61
33726497 2021
28
The Association of Bisphenol A and Phthalates with Risk of Breast Cancer: A Meta-Analysis. 61
33804363 2021
29
Magnetic resonance imaging findings in children with Parry-Romberg syndrome and en coup de sabre. 61
33757522 2021
30
Exposure of androgen mimicking environmental chemicals enhances proliferation of prostate cancer (LNCaP) cells by inducing AR expression and epigenetic modifications. 61
33433340 2021
31
Endocrine-disrupting chemicals and child health. 61
33773932 2021
32
DEDuCT 2.0: An updated knowledgebase and an exploration of the current regulations and guidelines from the perspective of endocrine disrupting chemicals. 61
33190914 2021
33
Maternal occupational exposure to endocrine-disrupting chemicals during pregnancy and semen parameters in adulthood: results of a nationwide cross-sectional study among Swiss conscripts. 61
33729457 2021
34
Environmental exposures to endocrine disrupting chemicals (EDCs) and their role in endometriosis: a systematic literature review. 61
32903210 2021
35
Highly sensitive determination of endocrine disrupting chemicals in foodstuffs through magnetic solid-phase extraction followed by high-performance liquid chromatography-tandem mass spectrometry. 61
32888325 2021
36
Identifying windows of susceptibility to endocrine disrupting chemicals in relation to gestational weight gain among pregnant women attending a fertility clinic. 61
33359703 2021
37
Association of Maternal-Neonatal Steroids With Early Pregnancy Endocrine Disrupting Chemicals and Pregnancy Outcomes. 61
33280001 2021
38
A review on efficient removal of phthalic acid esters via biochars and transition metals-activated persulfate systems. 61
33773311 2021
39
Evaluation of the oestrogenic potential of oestrone and bisphenol-A on the reproduction of Astyanax bimaculatus males after subacute exposure. 61
33665751 2021
40
Endocrine-disrupting chemicals and behaviour: A high risk to take? 61
33744126 2021
41
Combined toxicity of endocrine-disrupting chemicals: A review. 61
33735605 2021
42
OctylPhenol (OP) Alone and in Combination with NonylPhenol (NP) Alters the Structure and the Function of Thyroid Gland of the Lizard Podarcis siculus. 61
33687533 2021
43
Phthalate levels in urine of pregnant women and their associated missed abortion risk. 61
33387725 2021
44
Environmental aspects of hormones estriol, 17β-estradiol and 17α-ethinylestradiol: Electrochemical processes as next-generation technologies for their removal in water matrices. 61
33190907 2021
45
Mechanistic understanding of highly selective adsorption of bisphenols on microporous-dominated nitrogen-doped framework carbon. 61
33127136 2021
46
Expression variations of two retinoid signaling pathway receptors in the rotifer Brachionus calyciflorus exposed to three endocrine disruptors. 61
33443716 2021
47
Mixtures of persistent organic pollutants increase ovarian granulosa tumor cell line migration and spheroid invasion by upregulating MMP2 expression and activity via IGF1R. 61
33571556 2021
48
Assessing potential indicator of endocrine-disrupting property of chemicals using soil invertebrates. 61
33753303 2021
49
Obtaining EHR-derived datasets for COVID-19 research within a short time: a flexible methodology based on Detailed Clinical Models. 61
33548541 2021
50
Dietary Intake of Endocrine Disrupting Substances Presents in Environment and Their Impact on Thyroid Function. 61
33800806 2021

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....