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 57 72 29 13 6 70
Edss1 57 58 72
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;


57 (Updated 05-Apr-2021)
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® 57 613573
OMIM Phenotypic Series 57 PS613573
KEGG 36 H00647
MeSH 44 D004476
ICD10 via Orphanet 33 Q82.8
Orphanet 58 ORPHA247820
MedGen 41 C3150807
UMLS 70 C3150807

Summaries for Ectodermal Dysplasia-Syndactyly Syndrome 1

UniProtKB/Swiss-Prot : 72 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 Methyltestosterone and Testosterone have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are heat intolerance and widely spaced teeth

OMIM® : 57 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) (Updated 05-Apr-2021)

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

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 palmar hyperkeratosis 31 HP:0010765
14 absent facial hair 31 HP:0002550
15 2-3 toe cutaneous syndactyly 31 HP:0005709
16 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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®:

613573 (Updated 05-Apr-2021)

Drugs & Therapeutics for Ectodermal Dysplasia-Syndactyly Syndrome 1

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Methyltestosterone Approved Phase 2 58-18-4 6010
Testosterone Approved, Investigational Phase 2 58-22-0 6013
Testosterone undecanoate Approved, Investigational Phase 2 5949-44-0
Testosterone enanthate Approved Phase 2 315-37-7 9416
5 Pharmaceutical Solutions Phase 2
6 Hormone Antagonists Phase 2
7 Anabolic Agents Phase 2
8 Testosterone 17 beta-cypionate Phase 2
9 Hormones Phase 2
10 Antineoplastic Agents, Hormonal Phase 2
11 Androgens Phase 2
Natalizumab Approved, Investigational 189261-10-7
Interferon beta-1b Approved 145155-23-3
Nicotine Approved 54-11-5 942 89594
Carbon monoxide Approved, Investigational 630-08-0 281
Interferon beta-1a Approved, Investigational 145258-61-3 6438354
17 Interleukin-2
18 Immunologic Factors
19 interferons
20 Interferon-beta

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 TOTEM RRMS : TestOsterone TreatmEnt on Neuroprotection and Myelin Repair in Relapsing Remitting Multiple Sclerosis Recruiting NCT03910738 Phase 2 Nebido® Testosterone Undecanoate 1000 Mg/4 mL Solution for Injection;Placebo 4 mL Solution for Injection
2 Comparison of the Efficacy and Safety of Immunoadsorption and Plasma Exchange for Acute Attack of Refractory Neuromyelitis Optica Spectrum Disorders: a Prospective, Multicenter, Single-blind, Randomized Controlled Clinical Trial Not yet recruiting NCT04064944 Phase 2
3 A Cluster Randomised Controlled Trial of M-health Enabled, Nurse Care Coordinator Led Intervention to Improve Management of Hypertension in India: m-Power Heart Project Unknown status NCT03164317
4 Characterization of Cortical Injury in Early MS Patients: a 7T MRI Study Unknown status NCT03624296
5 Association of Polymorphisms of the Interleukin-7 Receptor-α (IL-7R), Glypican 5 (GPC5), Interleukin-2 Receptor-α (IL2-RA) , Human Leukocyte Antigen Class II Beta Chain (HLA-DRB1) Genes and Treatment Response in Multiple Sclerosis (MS). Unknown status NCT02769767
6 Hippocampal Microstructure Assessed by a New MRI Sequence and Episodic Memory at the Early Stage of Multiple Sclerosis: Comparison Between Patients After a Clinically Isolated Syndrome (CIS) and Controls Unknown status NCT03692975
7 Retinal Thickness as a Potential Biomarker of Neurodegeneration and Early Cognitive Impairment in Patients With Multiple Sclerosis Completed NCT04153773
8 A Prospective, Multicenter, Observational Study to Assess the Correlation of EDSS With Quality of Life in MS Patients Treated With Natalizumab Completed NCT02386566 natalizumab
9 The Multiple Sclerosis Functional Composite (MSFC) in the Follow-up of MS Patients: Correlation With the Expanded Disability Status Scale (EDSS) Among Different Clinical Forms in Argentina Completed NCT01080014
10 Impact of 8-weeks Mild Exercise Training on "Invisible" Symptoms and Quality of Life in Ambulatory and Non-ambulatory (EDSS From 0.0 - 8.0) Individuals With Multiple Sclerosis: a Randomized Controlled Trial Completed NCT03768830
11 The Impact of 4-weeks Mild Exercise Training on Living Quality in Ambulatory and Non-ambulatory Multiple Sclerosis Individuals (EDSS From 0-8) in Motivational and Social Supporting Environment: a Randomized Controlled Trial Completed NCT03222596
12 A Multi-center, Multi-regional Observational Study to Test the Responsiveness of the Validated MusiQoL (Multiple Sclerosis International Quality of Life Questionnaire) Instrument to EDSS Status Changes in Any Form of Multiple Sclerosis (MS) in Patients With or Without Treatment Completed NCT00702065
13 Wearable Biosensor to Track and Quantify Limb Dysfunction in Multiple Sclerosis Patients Completed NCT03369171
14 Study to Evaluate the Responsiveness and Minimal Clinical Important Difference (MCID) of the 'Multiple Sclerosis Questionnaire for Physiotherapists' (MSQPT) Completed NCT02346279
15 Prospective Longitudinal 1-year Study of the Correlation Between Cognitive Functioning in Patients With Clinically Isolated Syndrome Suggestive of Multiple Sclerosis and Disconnection in the Brain Assessed by MRI:"SCI-COG" Study Completed NCT01865357
16 Validation of Brief Computerized Cognitive Assessment in Multiple Sclerosis (BCCAMS) - BICAFMS Study (Brief Cognitive Assessment in French MS Patients) Completed NCT02391064
17 Emotional Processing, Family Life, Friendship and Social Integration in Patients With Multiple Sclerosis Completed NCT02708927
18 Multiple Sclerosis Completed NCT04133779
19 Electronic Decision Support Systems for Smokers With Severe Mental Illness Completed NCT01412866
20 Everyday Life Cognition and Non-conventional Magnetic Resonance Markers in RRMS Patients Treated With Aubagio® in a Real-life Setting Recruiting NCT03768648
21 Longitudinal Study of Cognition in Primary Progressive Multiple Sclerosis: a Cohort Study Recruiting NCT03455582
22 Serum Neurofilaments Light Chain and GFAP (Glial Fibrillary Acidic Protein) in Atypical Idiopathic Inflammatory Demyelinating Disorders Recruiting NCT04201470
23 Automated EDSS Score Calculation Using a Smartphone Application in Multiple Sclerosis Patients Active, not recruiting NCT03586635
24 Effects of Yoga Practice in Multiple Sclerosis Patients: a Multidimensional Approach Active, not recruiting NCT03198598
25 A Cluster-randomized Trial of an mHealth Integrated Model of Hypertension, Diabetes and Antenatal Care in Primary Care Settings in India and Nepal Not yet recruiting NCT03700034
26 Phase IV, Multi-center, Non-treatment, Observational, Registry Study to Determine Long Term Effects of AVONEX® Therapy on EDSS, MRI, QoL, and Cognition. Terminated NCT01156298
27 Quantitative MR Imaging and Proton Spectroscopy in MS Terminated NCT01226654

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:


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 57
25529316 2015
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation. 57 6 61
24577405 2014
Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1). 57 6 61
21346770 2011
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. 6 57
20691405 2010
[Association of ectodermal dysplasia and syndactylia]. 57
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 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NECTIN4 NM_030916.3(NECTIN4):c.851G>A (p.Arg284Gln) SNV Pathogenic 1600 rs267606991 GRCh37: 1:161046145-161046145
GRCh38: 1:161076355-161076355
2 NECTIN4 NM_030916.3(NECTIN4):c.554C>T (p.Thr185Met) SNV Pathogenic 1601 rs267606992 GRCh37: 1:161047419-161047419
GRCh38: 1:161077629-161077629
3 NECTIN4 NM_030916.3(NECTIN4):c.906del (p.Pro304fs) Deletion Pathogenic 1602 rs730880260 GRCh37: 1:161044495-161044495
GRCh38: 1:161074705-161074705
4 NECTIN4 NM_030916.3(NECTIN4):c.635C>G (p.Pro212Arg) SNV Pathogenic 30794 rs387907014 GRCh37: 1:161047338-161047338
GRCh38: 1:161077548-161077548
5 NECTIN4 NM_030916.3(NECTIN4):c.724G>A (p.Val242Met) SNV Pathogenic 425551 rs1085307124 GRCh37: 1:161047249-161047249
GRCh38: 1:161077459-161077459
6 NECTIN4 NM_030916.3(NECTIN4):c.181C>T (p.Gln61Ter) SNV Pathogenic 425552 rs1085307125 GRCh37: 1:161049638-161049638
GRCh38: 1:161079848-161079848
7 NECTIN4 NM_030916.3(NECTIN4):c.229C>T (p.Gln77Ter) SNV Pathogenic 807665 rs1571153052 GRCh37: 1:161049590-161049590
GRCh38: 1:161079800-161079800
8 NECTIN4 NM_030916.3(NECTIN4):c.880C>T (p.Arg294Ter) SNV Pathogenic 996828 GRCh37: 1:161044521-161044521
GRCh38: 1:161074731-161074731
9 NECTIN4 NM_030916.3(NECTIN4):c.1233+1G>A SNV Pathogenic 1032239 GRCh37: 1:161043509-161043509
GRCh38: 1:161073719-161073719
10 NECTIN4 NM_030916.3(NECTIN4):c.1387C>G (p.Pro463Ala) SNV Uncertain significance 1032240 GRCh37: 1:161042597-161042597
GRCh38: 1:161072807-161072807
11 NECTIN4 NM_030916.3(NECTIN4):c.1478G>C (p.Arg493Pro) SNV Uncertain significance 1029983 GRCh37: 1:161042506-161042506
GRCh38: 1:161072716-161072716
12 NECTIN4 NM_030916.3(NECTIN4):c.1327C>T (p.Arg443Cys) SNV not provided 418440 rs1537044 GRCh37: 1:161042657-161042657
GRCh38: 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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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