MCID: ECT045
MIFTS: 29

Ectodermal Dysplasia-Syndactyly Syndrome 1

Categories: Genetic diseases, Skin diseases, Fetal diseases, Rare 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 75 29 13 6 73
Edss1 57 59 75
Ectodermal Dysplasia-Syndactyly Syndrome 59 37
Dysplasia, Ectodermal, Syndactyly Syndrome, Type 1 40
Edss 59

Characteristics:

Orphanet epidemiological data:

59
ectodermal dysplasia-syndactyly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
heat intolerance (in some patients)


HPO:

32
ectodermal dysplasia-syndactyly syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613573
Orphanet 59 ORPHA247820
ICD10 via Orphanet 34 Q82.8
MedGen 42 C3150807
MeSH 44 D004476
KEGG 37 H00647
UMLS 73 C3150807

Summaries for Ectodermal Dysplasia-Syndactyly Syndrome 1

UniProtKB/Swiss-Prot : 75 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 Natalizumab and Interferon beta-1b have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are widely spaced teeth and coarse hair

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)

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 12.3
2 multiple sclerosis 10.3
3 ectodermal dysplasia 10.1
4 secondary progressive multiple sclerosis 10.0
5 relapsing-remitting multiple sclerosis 9.9
6 cerebritis 9.9

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Ectodermal Dysplasia-Syndactyly Syndrome 1:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 widely spaced teeth 32 HP:0000687
2 coarse hair 32 HP:0002208
3 hypoplastic toenails 32 HP:0001800
4 sparse scalp hair 32 HP:0002209
5 cutaneous finger syndactyly 32 HP:0010554
6 sparse eyelashes 32 HP:0000653
7 pili torti 32 HP:0003777
8 conical tooth 32 HP:0000698
9 hypoplasia of dental enamel 32 HP:0006297
10 2-3 toe cutaneous syndactyly 32 HP:0005709
11 ectodermal dysplasia 32 HP:0000968
12 heat intolerance 32 occasional (7.5%) HP:0002046
13 palmar hyperkeratosis 32 HP:0010765
14 patchy alopecia 32 HP:0002232
15 absent facial hair 32 HP:0002550
16 sparse and thin eyebrow 32 HP:0000535

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 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Natalizumab Approved, Investigational Phase 4 189261-10-7
2
Interferon beta-1b Approved Phase 4 145155-23-3
3 interferons Phase 4
4 Adjuvants, Immunologic Phase 4
5 Anti-Infective Agents Phase 4
6 Interferon-beta Phase 4
7 Antiviral Agents Phase 4
8
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
9
Dimethyl fumarate Approved, Investigational Phase 3 624-49-7 5271565 637568
10 tannic acid Approved, Nutraceutical Phase 3
11 Dermatologic Agents Phase 3
12 Immunosuppressive Agents Phase 3
13
Nicotine Approved Not Applicable 54-11-5 942 89594
14
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 Not yet 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 29 NECTIN4

Anatomical Context for Ectodermal Dysplasia-Syndactyly Syndrome 1

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

41
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:

75
# 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:

37
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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