Ectodermal Dysplasia-Syndactyly Syndrome 1 (EDSS1)

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

Aliases & Classifications for Ectodermal Dysplasia-Syndactyly Syndrome 1

MalaCards integrated aliases for Ectodermal Dysplasia-Syndactyly Syndrome 1:

Name: Ectodermal Dysplasia-Syndactyly Syndrome 1 56 73 29 13 6 71
Edss1 56 58 73
Ectodermal Dysplasia-Syndactyly Syndrome 58 36
Dysplasia, Ectodermal, Syndactyly Syndrome, Type 1 39
Edss 58


Orphanet epidemiological data:

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


autosomal recessive

heat intolerance (in some patients)


ectodermal dysplasia-syndactyly syndrome 1:
Inheritance autosomal recessive inheritance


Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis

External Ids:

OMIM 56 613573
OMIM Phenotypic Series 56 PS613573
KEGG 36 H00647
MeSH 43 D004476
ICD10 via Orphanet 33 Q82.8
Orphanet 58 ORPHA247820
MedGen 41 C3150807
UMLS 71 C3150807

Summaries for Ectodermal Dysplasia-Syndactyly Syndrome 1

UniProtKB/Swiss-Prot : 73 Ectodermal dysplasia-syndactyly syndrome 1: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDSS1 is characterized by the association of hair and teeth abnormalities with cutaneous syndactyly of the hands and/or feet. Hair morphologic abnormalities include twists at irregular intervals (pilli torti) and swelling along the shafts, particularly associated with areas of breakage. Dental findings consist of abnormally widely spaced teeth, with peg-shaped and conical crowns. Patients have normal sweating.

MalaCards based summary : Ectodermal Dysplasia-Syndactyly Syndrome 1, also known as edss1, is related to ectodermal dysplasia-syndactyly syndrome 2 and multiple sclerosis. An important gene associated with Ectodermal Dysplasia-Syndactyly Syndrome 1 is NECTIN4 (Nectin Cell Adhesion Molecule 4), and among its related pathways/superpathways is Adherens junction. The drugs Mitoxantrone and Calcium carbonate have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and testes, and related phenotypes are heat intolerance and widely spaced teeth

OMIM : 56 Ectodermal dysplasia-syndactyly syndrome (EDSS) is characterized by sparse to absent scalp hair, eyebrows, and eyelashes, hypoplastic nails, tooth enamel hypoplasia, conical-shaped teeth, palmoplantar keratoderma, and partial cutaneous syndactyly (summary by Raza et al., 2015). (613573)

KEGG : 36 Ectodermal dysplasia-syndactyly syndrome (EDSS) is a rare form of ectodermal dysplasia characterized by co-existence of abnormalities in skin/skin-derived structures and bilateral partial cutaneous syndactyly. The causative gene of EDSS is PVRL4, a cell adhesion molecule implicated in cadherin-based adherens junctions.

Related Diseases for Ectodermal Dysplasia-Syndactyly Syndrome 1

Diseases in the Ectodermal Dysplasia-Syndactyly Syndrome 1 family:

Ectodermal Dysplasia-Syndactyly Syndrome 2

Diseases related to Ectodermal Dysplasia-Syndactyly Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia-syndactyly syndrome 2 12.6
2 multiple sclerosis 10.8
3 relapsing-remitting multiple sclerosis 10.6
4 secondary progressive multiple sclerosis 10.5
5 meniere disease 10.4
6 primary progressive multiple sclerosis 10.4
7 chromosome 2q35 duplication syndrome 10.2
8 keratosis 10.2
9 ectodermal dysplasia 10.2
10 alopecia 10.2
11 pili torti 10.2
12 adermatoglyphia 10.2
13 cleft lip 10.2
14 bustos simosa pinto cisternas syndrome 10.2
15 rickets 10.1
16 demyelinating disease 10.1
17 sleep disorder 10.1
18 narcolepsy 10.1
19 pathologic nystagmus 10.1
20 depression 10.1
21 pik3ca-related overgrowth syndrome 10.1

Graphical network of the top 20 diseases related to Ectodermal Dysplasia-Syndactyly Syndrome 1:

Diseases related to Ectodermal Dysplasia-Syndactyly Syndrome 1

Symptoms & Phenotypes for Ectodermal Dysplasia-Syndactyly Syndrome 1

Human phenotypes related to Ectodermal Dysplasia-Syndactyly Syndrome 1:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 heat intolerance 31 occasional (7.5%) HP:0002046
2 widely spaced teeth 31 HP:0000687
3 coarse hair 31 HP:0002208
4 hypoplastic toenails 31 HP:0001800
5 sparse scalp hair 31 HP:0002209
6 cutaneous finger syndactyly 31 HP:0010554
7 sparse eyelashes 31 HP:0000653
8 pili torti 31 HP:0003777
9 conical tooth 31 HP:0000698
10 hypoplasia of dental enamel 31 HP:0006297
11 ectodermal dysplasia 31 HP:0000968
12 patchy alopecia 31 HP:0002232
13 absent facial hair 31 HP:0002550
14 palmar hyperkeratosis 31 HP:0010765
15 2-3 toe cutaneous syndactyly 31 HP:0005709
16 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM:

Skin Nails Hair Hair:
coarse hair
sparse scalp hair
pili torti
patchy alopecia
sparse to absent eyelashes
Head And Neck Teeth:
enamel hypoplasia
widely-spaced teeth
peg-shaped teeth
conical crowns

Skeletal Feet:
cutaneous syndactyly (2-3 and sometimes 3-4)

Skin Nails Hair Nails:
hypoplastic toenails
hypoplastic fingernails
nail plate degeneration
thickened, discolored nails (in some patients)

Skeletal Hands:
cutaneous syndactyly (3-4 and sometimes 2-3)

Skin Nails Hair Skin:
hyperkeratosis, palmar
reduced or absent sweat glands (in some patients)

Clinical features from OMIM:


Drugs & Therapeutics for Ectodermal Dysplasia-Syndactyly Syndrome 1

Drugs for Ectodermal Dysplasia-Syndactyly Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 194)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Mitoxantrone Approved, Investigational Phase 4 65271-80-9 4212
Calcium carbonate Approved, Investigational Phase 4 471-34-1
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
Titanium dioxide Approved Phase 4 13463-67-7
4-Aminopyridine Approved Phase 4 504-24-5 1727
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
12 Tocotrienol Investigational Phase 4 6829-55-6
13 Retinol palmitate Phase 4
14 retinol Phase 4
15 Analgesics Phase 4
16 Fingolimod Hydrochloride Phase 4
17 Antacids Phase 4
18 Anti-Ulcer Agents Phase 4
19 Sunflower Phase 4
20 Tocotrienols Phase 4
21 Omega 3 Fatty Acid Phase 4
22 Tocopherols Phase 4
23 Potassium Channel Blockers Phase 4
24 Adrenocorticotropic Hormone Phase 4
25 Melanocyte-Stimulating Hormones Phase 4
26 beta-Endorphin Phase 4
27 Trace Elements Phase 4
28 Vitamins Phase 4
29 Nutrients Phase 4
30 Micronutrients Phase 4
31 Calciferol Phase 4
32 Calcium, Dietary Phase 4
33 Pharmaceutical Solutions Phase 4
34 Ergocalciferols Phase 4
35 Vitamin D2 Phase 4
Calcium Nutraceutical Phase 4 7440-70-2 271
Simvastatin Approved Phase 3 79902-63-9 54454
Mycophenolic acid Approved Phase 2, Phase 3 24280-93-1 446541
Azathioprine Approved Phase 2, Phase 3 446-86-6 2265
Dopamine Approved Phase 2, Phase 3 51-61-6, 62-31-7 681
Memantine Approved, Investigational Phase 2, Phase 3 19982-08-2 4054
Pregabalin Approved, Investigational Phase 3 148553-50-8 5486971
Paroxetine Approved, Investigational Phase 3 61869-08-7 43815
Ocrelizumab Approved, Investigational Phase 3 637334-45-3
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
Histamine Approved, Investigational Phase 3 51-45-6 774
Biotin Approved, Investigational, Nutraceutical Phase 3 58-85-5 171548
49 Lipid Regulating Agents Phase 3
50 Hypolipidemic Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 291)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Mitoxantrone in Patients With Refractory Neuromyelitis Optica and Spectrum Disorders Unknown status NCT02021825 Phase 4 Mitoxantrone
2 Impact of Vitamin A Supplementation on Disease Activity and Progression in Multiple Sclerotic (MS) Patients Unknown status NCT01417273 Phase 4 Drug: placebo
3 Phase IV, Rater-blinded, Randomized Study, Comparing 250 mg of Betaseron With 20 mg of Copaxone in Patients With the Relapsing-remitting(RR) or CIS Forms of ms Using 3 Tesla(3T) Magnetic Resonance Imaging (MRI) With Triple-dose Gadolinium Unknown status NCT00176592 Phase 4 Betaseron;Copaxone
4 A Prospective, Open-label, Non-randomized, Clinical Trial to Determine if Natalizumab (Tysabri®) Improves Ambulatory Measures in Relapsing-remitting Multiple Sclerosis (RRMS) Patients "TIMER" Study Completed NCT00871780 Phase 4 BG00002 (natalizumab)
5 Pilot Clinical Trial of ACTHar Gel 14 Days Subcutaneous (SQ) Versus ACTHar Gel Five Days SQ for the Treatment of MS Exacerbations Completed NCT01888354 Phase 4 H.P. Acthar Gel (repository corticotropin injection)
6 A Prospective, Open-label, Non-randomized, Clinical Trial to Evaluate the Safety and Efficacy in RUSsian RRMS Patients on One Year Treatment With Natalizumab (TYSabri®). Completed NCT02142205 Phase 4
7 Can Vitamin D Supplementation Prevent Bone Loss in Persons With MS? A Randomised, Placebo-controlled, Single-centre Study Completed NCT00785473 Phase 4
8 Efficacy of Fish Oil on Serum TNFα, IL-1β, IL-6, Oxidative Stress Markers in Multiple Sclerosis Treated With Interferon Beta 1-b Completed NCT01842191 Phase 4
9 A Prospective, Single-Arm, Clinical-Setting Study to Describe Efficacy, Tolerability and Convenience of Teriflunomide Treatment Using Patient Reported Outcomes (PROs) in Relapsing Multiple Sclerosis (RMS) Patients Completed NCT01895335 Phase 4 Teriflunomide
10 A Pilot Study of Mitoxantrone for the Treatment of Recurrent Neuromyelitis Optica (Devic’s Disease) Completed NCT00304291 Phase 4 Mitoxantrone
11 Multicenter, Randomized, Double-blind Clinical Trial to Compare the Clinical and Radiological Efficacy of 625 mg Versus 1250 mg of Oral Methylprednisolone in Patients With Multiple Sclerosis in Relapse. Completed NCT01986998 Phase 4 Methylprednisolone 1250 mg/24h x3 days;Oral Methylprednisolone 625 mg/24h x3 days
12 Long-term Follow-up at 10 Years of Patients Enrolled in the Fingolimod Phase II Program in Relapsing Multiple Sclerosis (MS) Completed NCT02307838 Phase 4
13 A 12-month, Prospective, Randomized, Active-controlled, Open-label Study to Evaluate the Patient Retention of Fingolimod vs. Approved First-line Disease Modifying Therapies in Adults With Relapsing Remitting Multiple Sclerosis (PREFERMS) Completed NCT01623596 Phase 4 Fingolimod;Disease Modifying therapy
14 A Phase IV Double Blind, Randomized, Placebo Controlled, Crossover Study of the Effectiveness of Oral Fampridine in Improving Upper Limb Function in Progressive Multiple Sclerosis Completed NCT02208050 Phase 4 Fampridine;Placebo
15 Short and Long Term Fampridine Treatment in Persons With Multiple Sclerosis: Cognitive and Motor Performances Recruiting NCT02849782 Phase 4 Fampridine
16 A Multicenter, Randomized, Double Blind, Placebo Controlled Parallel Group, Pilot Study to Assess the Efficacy and Safety of H.P. Acthar® Gel in Subjects With Relapsing-remitting Multiple Sclerosis Suspended NCT03126760 Phase 4 Repository Corticotropin Injection;Placebo
17 Phase IV Study of Oral Prednisone Taper vs. Placebo Following Intravenous Steroids for the Treatment of Acute Relapses in Multiple Sclerosis Within the Ticino Cohort Terminated NCT01411514 Phase 4 Prednisone;Placebo
18 A One Year Prospective, Randomized, Double Blind Interventional Study to Assess Tolerability, Quality of Life and Immunomodulation With Interferon Beta Combined With Vitamin D in Patients With Relapsing Remitting Multiple Sclerosis Terminated NCT01005095 Phase 4
19 A Multicenter, Open-Label Study to Evaluate Fatigue in Subjects With Relapsing-Remitting Multiple Sclerosis During Treatment With Tecfidera® (Dimethyl Fumarate) Gastro-Resistant Hard Capsules (TECNERGY) Withdrawn NCT02090348 Phase 4 dimethyl fumarate
20 Open-label, Randomized, 2-arm, Active Comparator Study to Evaluate Safety and Tolerability in Patients With Relapsing Multiple Sclerosis Transitioning From Standard-of-care Subcutaneous Interferon Therapy to Peginterferon Beta-1a (BIIB017) Withdrawn NCT02234869 Phase 4 Interferon Beta;BIIB017 (Peginterferon beta-1a)
21 An Open Label Pilot Study of Induction Therapy With a Single High Dose Bolus of Intravenous Methotrexate With Leucovorin Rescue, Prior to Initiation of AVONEX® Treatment, in Patients Presenting With a First Acute Demyelinating Event: Comparison With CHAMPS Results. Withdrawn NCT00037115 Phase 4 interferon beta 1a;methotrexate;methylprednisolone
22 Randomised Double Blind Placebo-controlled Trial of Vitamine D Supplement in Multiple Sclerosis Unknown status NCT01768039 Phase 3 Vitamin D;Placebo
23 Effect of MD1003 in Spinal Progressive Multiple Sclerosis: a Pivotal Randomized Double Blind Placebo Controlled Study Unknown status NCT02220933 Phase 3 MD1003 100mg capsule;Placebo
24 The Efficacy of Eye Movement Desensitization and Reprocessing (EMDR) in Patients With Post Traumatic Stress Disorder in Multiple Sclerosis. A Randomized Controlled Trial. Unknown status NCT01743664 Phase 3
25 Simvastatin in Relapsing Remitting Multiple Sclerosis (RRMS) Patients Using Avonex Compared to Placebo Completed NCT00668343 Phase 3 simvastatin;placebo
26 A Double-blind, Two-arm, Multicenter, Randomized Trial to Evaluate Efficacy of Cyclophosphamide Versus Methylprednisolone in Patients With Recent Secondary Progressive Multiple Sclerosis: P.R.OM.E.S.S Study Completed NCT00241254 Phase 3 Cyclophosphamide (drug);Methylprednisolone (drug)
27 An International, Multi-center, Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Evaluate the Efficacy and Safety of Two Year Treatment With Teriflunomide 7 mg Once Daily and 14 mg Once Daily Versus Placebo in Patients With a First Clinical Episode Suggestive of Multiple Sclerosis Plus a Long Term Extension Period Completed NCT00622700 Phase 3 Teriflunomide;Placebo
28 A One-Year Prospective, Randomized, Placebo-Controlled, Double-Blind, Phase II/III Safety Trial of Combination Therapy With IFN Beta-1a (Avonex) and Mycophenolate Mofetil (Cellcept) in Early Multiple Sclerosis Completed NCT00223301 Phase 2, Phase 3 Mycophenolate Mofetil (cellcept)
29 A Randomized, Double-Blind, Placebo-Controlled, Parallel Group Design Study to Evaluate the Efficacy and Safety of Teriflunomide in Reducing the Frequency of Relapses and Delaying the Accumulation of Physical Disability in Subjects With Multiple Sclerosis With Relapses Completed NCT00134563 Phase 3 Teriflunomide;Placebo (for teriflunomide)
30 Safety and Efficacy of Tocilizumab Versus Azathioprine in Neuromyelitis Optica Spectrum Disorders: a Randomized, Controlled, Open-label, Phase 2 Trial Completed NCT03350633 Phase 2, Phase 3 Tocilizumab Injection;Azathioprine
31 A Phase III, Randomized, Double-blind, Three-arm, Placebo-controlled, Multi-center Study to Evaluate the Safety and Efficacy of Oral Cladribine in Subjects With Relapsing-remitting Multiple Sclerosis (RRMS) Completed NCT00213135 Phase 3 Cladribine 5.25 mg/kg;Cladribine 3.5 mg/kg
32 A 96 Week, Prospective, Multicentre, Randomized, Double-blind, Placebo-controlled, 2 Parallel-groups, Phase 3 Study to Compare Efficacy and Safety of Masitinib 4.5 mg/kg/Day Versus Placebo in the Treatment of Patients With Primary Progressive or Relapse-free Secondary Progressive Multiple Sclerosis Completed NCT01433497 Phase 3 Masitinib;Placebo
33 Multicenter Study of BG00002 in Japanese Subjects With RRMS, Consisting of a Multiple-Dose, Open-Label Evaluation of Its Safety, Tolerability, Pharmacokinetics and Pharmacodynamics (Part A) and a Randomized, Double-Blind, Placebo-Controlled, Multiple-Dose Evaluation of Safety and Efficacy (Part B) Completed NCT01440101 Phase 2, Phase 3 Natalizumab (BG00002);Placebo
34 Effects of Dalfampridine on Cognition in Multiple Sclerosis Completed NCT02006160 Phase 2, Phase 3 dalfampridine;placebo
35 Intravenous Immunoglobulin Therapy in Optic Neuritis Completed NCT00000117 Phase 3 Immunoglobulin
36 A Comparative Single Center, Randomized Neuropathic Pain Assessment Study Involving Patients With Clinically Definite Multiple Sclerosis (MS) Receiving Treatment With Either Pregabalin or Paroxetine Completed NCT00291148 Phase 3 paroxetine;pregabalin
37 Double Blind Placebo Controlled Pilot Trial of Memantine for Cognitive Impairment in Multiple Sclerosis Completed NCT00300716 Phase 2, Phase 3 Memantine
38 A Phase II Study of NeuroVax™, a Therapeutic TCR Peptide Vaccine for SPMS of Multiple Sclerosis Recruiting NCT02057159 Phase 2, Phase 3
39 A Multicenter, Longitudinal, Open-Label, Single-Arm Study Describing Cognitive Processing Speed Changes in Relapsing Multiple Sclerosis Subjects Treated With Ozanimod (RPC-1063) Recruiting NCT04140305 Phase 3 RPC-1063
40 RItuximab Long-Term DOSE Trial in Multiple Sclerosis - RIDOSE-MS. A Randomized Trial of Long-term Dosage of Rituximab in Multiple Sclerosis Recruiting NCT03979456 Phase 3 Rituximab
41 A Prospective, Open Label, Single Center Study of Patients With Multiple Sclerosis With Lower Extremity Spasticity Who Are Treated With Dysport Recruiting NCT03585569 Phase 3
42 Disease Modifying Therapies Withdrawal in Inactive Secondary Progressive Multiple Sclerosis Patients Older Than 50 Years Recruiting NCT03653273 Phase 3 DMT continuation
43 A Prospective Study Evaluating the Effect of Ocrelizumab on Brain Innate Immune Microglial Cells Activation in Multiple Sclerosis Using PET-MRI With 18F-DPA714 Recruiting NCT03691077 Phase 3 Ocrelizumab
44 Multicentric, Randomized, Double-blind Versus Placebo Study Evaluating the Efficacy of Treatment With Cholecalciferol (Vitamin D3) for Delaying the Diagnosis of Multiple Sclerosis (MS) After a Clinically Isolated Syndrome (CIS). Comparison of Conversion Rates After 2 Years. Recruiting NCT01817166 Phase 3 Vitamin D;Placebo
45 Open-Label Trial of Minocycline in Early Multiple Sclerosis: Confirmation of Treatment Benefit Recruiting NCT04291456 Phase 3 Minocycline 100mg
46 Effect of MD1003 in Progressive Multiple Sclerosis: a Randomized Double Blind Placebo Controlled Study Active, not recruiting NCT02936037 Phase 3 MD1003 100mg capsule;PLACEBO
47 Incobotulinumtoxin Versus Onabotulinumtoxin in the Treatment of Patients With Overactive Bladder Syndrome Active, not recruiting NCT03758235 Phase 3 IncobotulinumtoxinA 100 UNT Injection [Xeomin];OnabotulinumtoxinA 100 UNT [Botox]
48 Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Safety and Efficacy of Apitox Add-on Therapy for Improving Disability and QOL in MS Patients Not yet recruiting NCT03710655 Phase 3 Apitox - pure honeybee toxin;Placebo
49 A Phase III Trial of Lorenzo's Oil in Adrenomyeloneuropathy Terminated NCT00545597 Phase 3 Lorenzo's oil
50 An Open-Label, Multicenter, Extension Study to Evaluate the Safety and Tolerability of Natalizumab Following Re-Initiation of Dosing in Multiple Sclerosis Subjects Who Have Completed Study C-1801, C-1802, C-1803, or C-1808 and a Dosing Suspension Safety Evaluation Terminated NCT00297232 Phase 3 Natalizumab

Search NIH Clinical Center for Ectodermal Dysplasia-Syndactyly Syndrome 1

Genetic Tests for Ectodermal Dysplasia-Syndactyly Syndrome 1

Genetic tests related to Ectodermal Dysplasia-Syndactyly Syndrome 1:

# Genetic test Affiliating Genes
1 Ectodermal Dysplasia-Syndactyly Syndrome 1 29 NECTIN4

Anatomical Context for Ectodermal Dysplasia-Syndactyly Syndrome 1

MalaCards organs/tissues related to Ectodermal Dysplasia-Syndactyly Syndrome 1:

Bone, Brain, Testes, Skin, T Cells, Bone Marrow, Eye

Publications for Ectodermal Dysplasia-Syndactyly Syndrome 1

Articles related to Ectodermal Dysplasia-Syndactyly Syndrome 1:

# Title Authors PMID Year
A novel homozygous nonsense mutation in the PVRL4 gene and expansion of clinical spectrum of EDSS1. 61 6 56
25529316 2015
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation. 6 56 61
24577405 2014
Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1). 56 6 61
21346770 2011
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. 6 56
20691405 2010
[Association of ectodermal dysplasia and syndactylia]. 56
1646587 1991
Novel missense alteration in LRP4 gene underlies Cenani-Lenz syndactyly syndrome in a consanguineous family. 61
31750994 2020
A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome. 61
29430627 2018
A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1. 61
29265343 2018
Progression of disability in multiple sclerosis: A study of factors influencing median time to reach an EDSS value. 61
25877632 2013

Variations for Ectodermal Dysplasia-Syndactyly Syndrome 1

ClinVar genetic disease variations for Ectodermal Dysplasia-Syndactyly Syndrome 1:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NECTIN4 NM_030916.3(NECTIN4):c.724G>A (p.Val242Met)SNV Pathogenic 425551 rs1085307124 1:161047249-161047249 1:161077459-161077459
2 NECTIN4 NM_030916.3(NECTIN4):c.181C>T (p.Gln61Ter)SNV Pathogenic 425552 rs1085307125 1:161049638-161049638 1:161079848-161079848
3 NECTIN4 NM_030916.3(NECTIN4):c.229C>T (p.Gln77Ter)SNV Pathogenic 807665 1:161049590-161049590 1:161079800-161079800
4 NECTIN4 NM_030916.3(NECTIN4):c.851G>A (p.Arg284Gln)SNV Pathogenic 1600 rs267606991 1:161046145-161046145 1:161076355-161076355
5 NECTIN4 NM_030916.3(NECTIN4):c.554C>T (p.Thr185Met)SNV Pathogenic 1601 rs267606992 1:161047419-161047419 1:161077629-161077629
6 NECTIN4 NM_030916.3(NECTIN4):c.906del (p.Pro304fs)deletion Pathogenic 1602 rs730880260 1:161044495-161044495 1:161074705-161074705
7 NECTIN4 NM_030916.3(NECTIN4):c.635C>G (p.Pro212Arg)SNV Pathogenic 30794 rs387907014 1:161047338-161047338 1:161077548-161077548
8 NECTIN4 NM_030916.3(NECTIN4):c.1327C>T (p.Arg443Cys)SNV Conflicting interpretations of pathogenicity 418440 rs1537044 1:161042657-161042657 1:161072867-161072867

UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia-Syndactyly Syndrome 1:

# Symbol AA change Variation ID SNP ID
1 NECTIN4 p.Thr185Met VAR_064189 rs267606992

Expression for Ectodermal Dysplasia-Syndactyly Syndrome 1

Search GEO for disease gene expression data for Ectodermal Dysplasia-Syndactyly Syndrome 1.

Pathways for Ectodermal Dysplasia-Syndactyly Syndrome 1

Pathways related to Ectodermal Dysplasia-Syndactyly Syndrome 1 according to KEGG:

# Name Kegg Source Accession
1 Adherens junction hsa04520

GO Terms for Ectodermal Dysplasia-Syndactyly Syndrome 1

Sources for Ectodermal Dysplasia-Syndactyly Syndrome 1

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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