EDSS1
MCID: ECT045
MIFTS: 30

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 58 76 30 13 6 74
Edss1 58 60 76
Ectodermal Dysplasia-Syndactyly Syndrome 60 38
Dysplasia, Ectodermal, Syndactyly Syndrome, Type 1 41
Edss 60

Characteristics:

Orphanet epidemiological data:

60
ectodermal dysplasia-syndactyly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
heat intolerance (in some patients)


HPO:

33
ectodermal dysplasia-syndactyly syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 613573
KEGG 38 H00647
MeSH 45 D004476
ICD10 via Orphanet 35 Q82.8
Orphanet 60 ORPHA247820
MedGen 43 C3150807
UMLS 74 C3150807

Summaries for Ectodermal Dysplasia-Syndactyly Syndrome 1

UniProtKB/Swiss-Prot : 76 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 Interferon beta-1b and Natalizumab have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are heat intolerance and widely spaced teeth

OMIM : 58 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)

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:

# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia-syndactyly syndrome 2 12.5
2 multiple sclerosis 10.7
3 relapsing-remitting multiple sclerosis 10.3
4 ectodermal dysplasia 10.2
5 secondary progressive multiple sclerosis 10.2
6 frasier 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:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 heat intolerance 33 occasional (7.5%) HP:0002046
2 widely spaced teeth 33 HP:0000687
3 coarse hair 33 HP:0002208
4 hypoplastic toenails 33 HP:0001800
5 sparse scalp hair 33 HP:0002209
6 cutaneous finger syndactyly 33 HP:0010554
7 sparse eyelashes 33 HP:0000653
8 pili torti 33 HP:0003777
9 conical tooth 33 HP:0000698
10 hypoplasia of dental enamel 33 HP:0006297
11 2-3 toe cutaneous syndactyly 33 HP:0005709
12 ectodermal dysplasia 33 HP:0000968
13 palmar hyperkeratosis 33 HP:0010765
14 patchy alopecia 33 HP:0002232
15 absent facial hair 33 HP:0002550
16 sparse and thin eyebrow 33 HP:0000535

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Hair:
coarse hair
sparse scalp hair
pili torti
patchy alopecia
sparse to absent eyelashes
more
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

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 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Interferon beta-1b Approved Phase 4 145155-23-3
2
Natalizumab Approved, Investigational Phase 4 189261-10-7
3 interferons Phase 4
4 Antiviral Agents Phase 4
5 Interferon-beta Phase 4
6 Anti-Infective Agents Phase 4
7 Adjuvants, Immunologic Phase 4
8 Immunologic Factors Phase 4,Phase 3
9
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
10
tannic acid Approved Phase 3 1401-55-4
11
Dimethyl fumarate Approved, Investigational Phase 3 624-49-7 637568 5271565
12 Dermatologic Agents Phase 3
13 Immunosuppressive Agents Phase 3
14
Nicotine Approved Not Applicable 54-11-5 942 89594
15
Carbon monoxide Approved, Investigational Not Applicable 630-08-0 281

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Natalizumab De-escalation With Interferon Beta-1b Completed NCT01144052 Phase 4 interferon beta-1b;Natalizumab
2 BG00012 Monotherapy Safety and Efficacy Extension Study in Multiple Sclerosis (MS) Active, not recruiting NCT00835770 Phase 3 dimethyl fumarate;Placebo
3 Electronic Decision Support Systems for Smokers With Severe Mental Illness Completed NCT01412866 Not Applicable
4 Wearable Biosensor to Track and Quantify Limb Dysfunction in Multiple Sclerosis Patients Recruiting NCT03369171 Not Applicable

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 30 NECTIN4

Anatomical Context for Ectodermal Dysplasia-Syndactyly Syndrome 1

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

42
Skin

Publications for Ectodermal Dysplasia-Syndactyly Syndrome 1

Articles related to Ectodermal Dysplasia-Syndactyly Syndrome 1:

# Title Authors Year
1
A novel homozygous mutation in PVRL4 causes ectodermal dysplasia-syndactyly syndrome 1. ( 29265343 )
2018

Variations for Ectodermal Dysplasia-Syndactyly Syndrome 1

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

76
# Symbol AA change Variation ID SNP ID
1 NECTIN4 p.Thr185Met VAR_064189 rs267606992

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

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 NECTIN4 NM_030916.2(NECTIN4): c.851G> A (p.Arg284Gln) single nucleotide variant Pathogenic rs267606991 GRCh37 Chromosome 1, 161046145: 161046145
2 NECTIN4 NM_030916.2(NECTIN4): c.851G> A (p.Arg284Gln) single nucleotide variant Pathogenic rs267606991 GRCh38 Chromosome 1, 161076355: 161076355
3 NECTIN4 NM_030916.2(NECTIN4): c.554C> T (p.Thr185Met) single nucleotide variant Pathogenic rs267606992 GRCh37 Chromosome 1, 161047419: 161047419
4 NECTIN4 NM_030916.2(NECTIN4): c.554C> T (p.Thr185Met) single nucleotide variant Pathogenic rs267606992 GRCh38 Chromosome 1, 161077629: 161077629
5 NECTIN4 NM_030916.2(NECTIN4): c.906delT (p.Pro304Hisfs) deletion Pathogenic rs730880260 GRCh37 Chromosome 1, 161044495: 161044495
6 NECTIN4 NM_030916.2(NECTIN4): c.906delT (p.Pro304Hisfs) deletion Pathogenic rs730880260 GRCh38 Chromosome 1, 161074705: 161074705
7 NECTIN4 NM_030916.2(NECTIN4): c.635C> G (p.Pro212Arg) single nucleotide variant Pathogenic rs387907014 GRCh37 Chromosome 1, 161047338: 161047338
8 NECTIN4 NM_030916.2(NECTIN4): c.635C> G (p.Pro212Arg) single nucleotide variant Pathogenic rs387907014 GRCh38 Chromosome 1, 161077548: 161077548
9 NECTIN4 NM_030916.2(NECTIN4): c.1327C> T (p.Arg443Cys) single nucleotide variant Uncertain significance rs1537044 GRCh38 Chromosome 1, 161072867: 161072867
10 NECTIN4 NM_030916.2(NECTIN4): c.1327C> T (p.Arg443Cys) single nucleotide variant Uncertain significance rs1537044 GRCh37 Chromosome 1, 161042657: 161042657
11 NECTIN4 NM_030916.2(NECTIN4): c.724G> A (p.Val242Met) single nucleotide variant Pathogenic rs1085307124 GRCh37 Chromosome 1, 161047249: 161047249
12 NECTIN4 NM_030916.2(NECTIN4): c.724G> A (p.Val242Met) single nucleotide variant Pathogenic rs1085307124 GRCh38 Chromosome 1, 161077459: 161077459
13 NECTIN4 NM_030916.2(NECTIN4): c.181C> T (p.Gln61Ter) single nucleotide variant Pathogenic rs1085307125 GRCh37 Chromosome 1, 161049638: 161049638
14 NECTIN4 NM_030916.2(NECTIN4): c.181C> T (p.Gln61Ter) single nucleotide variant Pathogenic rs1085307125 GRCh38 Chromosome 1, 161079848: 161079848

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:

38
# Name Kegg Source Accession
1 Adherens junction hsa04520

GO Terms for Ectodermal Dysplasia-Syndactyly Syndrome 1

Sources for Ectodermal Dysplasia-Syndactyly Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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