EDSFS
MCID: ECT007
MIFTS: 46

Ectodermal Dysplasia/skin Fragility Syndrome (EDSFS)

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

Aliases & Classifications for Ectodermal Dysplasia/skin Fragility Syndrome

MalaCards integrated aliases for Ectodermal Dysplasia/skin Fragility Syndrome:

Name: Ectodermal Dysplasia/skin Fragility Syndrome 57 73 36 13
Mcgrath Syndrome 57 20 58 73
Epidermolysis Bullosa Simplex Due to Plakophilin Deficiency 20 29 6
Ectodermal Dysplasia-Skin Fragility Syndrome 20 58 73
Edsfs 57 73
Ectodermal Dysplasia - Skin Fragility Syndrome 20
Dysplasia, Ectodermal, Skin Fragility Syndrome 39
Ectodermal Dysplasia/ Skin Fragility Syndrome 71
Ectodermal Dysplasia Skin Fragility Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
ectodermal dysplasia-skin fragility syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
ectodermal dysplasia/skin fragility syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Ectodermal Dysplasia/skin Fragility Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 158668DefinitionEpidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering.EpidemiologyPrevalence is unknown but 11 cases have been reported to date.Clinical descriptionOnset of the disease is usually at birth with skin blistering and generalized erythema which rapidly regresses. Skin erosions and crusting are associated with dystrophic nails, hypotrichosis or alopecia with absent or sparse eyelashes and eyebrows, palmoplantar keratoderma with painful fissuring, chronic cheilitis with perioral cracking. Occasionally hair may be woolly rather than reduced. Other variable cutaneous findings and symptoms include follicular hyperkeratosis, perianal erythema and erosions, inflammatory scaly plaques in the flexures, and pruritus. Extracutaneous involvement is usually present, typically with growth retardation, and, in some cases, with recurrent infections, chronic diarrhea, tongue fissuring, and blepharitis.EtiologyEBS-PD is due to mutations in the PKP1 (1q32) gene encoding plakophilin-1.Genetic counselingTransmission is autosomal recessive.PrognosisThe disease is frequently associated with significant morbidity, but life-expectancy does not seem to be affected.Visit the Orphanet disease page for more resources.

MalaCards based summary : Ectodermal Dysplasia/skin Fragility Syndrome, also known as mcgrath syndrome, is related to ectodermal dysplasia and epidermolysis bullosa. An important gene associated with Ectodermal Dysplasia/skin Fragility Syndrome is PKP1 (Plakophilin 1), and among its related pathways/superpathways are Developmental Biology and Adhesion. Affiliated tissues include skin and tongue, and related phenotypes are abnormality of the nail and palmoplantar keratoderma

OMIM® : 57 Ectodermal dysplasia/skin fragility syndrome (EDSFS) is an autosomal recessive genodermatosis characterized by widespread skin fragility, alopecia, nail dystrophy, and focal keratoderma with painful fissures. Hyohidrosis and cheilitis are sometimes present (summary by Ersoy-Evans et al., 2006). (604536) (Updated 05-Mar-2021)

KEGG : 36 Ectodermal dysplasia/skin fragility syndrome is a very rare genodermatosis that develops skin fragility with tearing and blisters and congenital ectodermal dysplasia. Progressive keratosis of the palms and soles is always seen in the patients. This conditon is caused by mutations in PKP1, a desmosomal plaque-associated protein.

UniProtKB/Swiss-Prot : 73 Ectodermal dysplasia-skin fragility syndrome: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by features of both cutaneous fragility and congenital ectodermal dysplasia affecting skin, hair and nails. There is no evidence of significant abnormalities in other epithelia or tissues. Desmosomes in the skin are small and poorly formed with widening of keratinocyte intercellular spaces and perturbed desmosome/keratin intermediate filament interactions.

Related Diseases for Ectodermal Dysplasia/skin Fragility Syndrome

Diseases related to Ectodermal Dysplasia/skin Fragility Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 30.6 PKP1 DSP DSC2
2 epidermolysis bullosa 30.0 PKP1 DSP
3 epidermolysis bullosa simplex 29.9 PKP1 DSP
4 palmoplantar keratosis 29.6 PKP1 JUP DSP DSC2
5 erythrokeratoderma ''en cocardes'' 10.6
6 autosomal recessive disease 10.5
7 keratosis 10.5
8 hypotrichosis 10.5
9 alopecia 10.5
10 rare genetic skin disease 10.4
11 anhidrosis 10.3
12 cheilitis 10.3
13 exanthem 10.2
14 skin disease 10.2
15 arrhythmogenic right ventricular dysplasia, familial, 12 9.9 JUP DSC2
16 grover's disease 9.8 JUP DSP
17 epidermolysis bullosa, lethal acantholytic 9.8 JUP DSP
18 diffuse palmoplantar keratoderma 9.8 JUP DSP
19 arrhythmogenic right ventricular dysplasia, familial, 1 9.8 DSP DSC2
20 epidermolysis bullosa simplex with mottled pigmentation 9.8 PKP1 DSP
21 arrhythmogenic right ventricular dysplasia, familial, 3 9.8 DSP DSC2
22 familial isolated arrhythmogenic right ventricular dysplasia 9.8 DSP DSC2
23 benign chronic pemphigus 9.8 JUP DSP
24 ritter's disease 9.8 DSP DSC2
25 epidermolysis bullosa simplex, dowling-meara type 9.8 PKP1 DSP
26 left bundle branch hemiblock 9.8 DSP DSC2
27 palmoplantar keratoderma, epidermolytic 9.8 PKP1 DSP
28 arrhythmogenic right ventricular dysplasia, familial, 2 9.8 DSP DSC2
29 pemphigus vulgaris, familial 9.8 JUP DSP
30 lmna-related dilated cardiomyopathy 9.8 DSP DSC2
31 paraneoplastic pemphigus 9.7 DSP DSC2
32 cardiac arrhythmia 9.7 JUP DSP
33 cardiomyopathy, dilated, 1h 9.7 DSP DSC2
34 cardiomyopathy, dilated, 1a 9.7 DSP DSC2
35 hair disease 9.6 DSP DSC2
36 intrinsic cardiomyopathy 9.6 DSP DSC2
37 arrhythmogenic right ventricular dysplasia, familial, 4 9.5 JUP DSP DSC2
38 arrhythmogenic right ventricular dysplasia, familial, 6 9.5 JUP DSP DSC2
39 palmoplantar keratoderma and woolly hair 9.5 JUP DSP DSC2
40 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.5 JUP DSP DSC2
41 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.5 JUP DSP DSC2
42 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.5 JUP DSP DSC2
43 arrhythmogenic right ventricular dysplasia, familial, 5 9.5 JUP DSP DSC2
44 catecholaminergic polymorphic ventricular tachycardia 9.5 DSP DSC2
45 arrhythmogenic right ventricular dysplasia, familial, 9 9.5 JUP DSP DSC2
46 arrhythmogenic right ventricular dysplasia, familial, 11 9.5 JUP DSP DSC2
47 arrhythmogenic right ventricular dysplasia, familial, 10 9.5 JUP DSP DSC2
48 darier-white disease 9.5 JUP DSP DSC2
49 bullous skin disease 9.5 PKP1 DSP DSC2
50 atrial standstill 1 9.5 JUP DSP DSC2

Graphical network of the top 20 diseases related to Ectodermal Dysplasia/skin Fragility Syndrome:



Diseases related to Ectodermal Dysplasia/skin Fragility Syndrome

Symptoms & Phenotypes for Ectodermal Dysplasia/skin Fragility Syndrome

Human phenotypes related to Ectodermal Dysplasia/skin Fragility Syndrome:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the nail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001597
2 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
3 alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001596
4 skin ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0200042
5 erythema 58 31 hallmark (90%) Very frequent (99-80%) HP:0010783
6 absent eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000561
7 skin vesicle 58 31 hallmark (90%) Very frequent (99-80%) HP:0200037
8 sparse hair 31 very rare (1%) HP:0008070
9 abnormal eyebrow morphology 31 hallmark (90%) HP:0000534
10 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
11 immunodeficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002721
12 dry skin 58 31 frequent (33%) Frequent (79-30%) HP:0000958
13 chronic diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002028
14 blepharitis 58 31 frequent (33%) Frequent (79-30%) HP:0000498
15 furrowed tongue 58 31 frequent (33%) Frequent (79-30%) HP:0000221
16 pruritus 58 31 frequent (33%) Frequent (79-30%) HP:0000989
17 woolly hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002224
18 abnormal blistering of the skin 31 very rare (1%) HP:0008066
19 dystrophic fingernails 31 very rare (1%) HP:0008391
20 anhidrosis 31 very rare (1%) HP:0000970
21 palmoplantar hyperkeratosis 31 very rare (1%) HP:0000972
22 fragile skin 31 very rare (1%) HP:0001030
23 scaling skin 31 very rare (1%) HP:0040189
24 hyperkeratosis 58 Frequent (79-30%)
25 hypotrichosis 58 Very frequent (99-80%)
26 abnormality of the eyebrow 58 Very frequent (99-80%)
27 ectodermal dysplasia 31 HP:0000968

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skin Nails Hair Hair:
alopecia
sparse hair
sparse eyelashes
sparse eyebrows
fragile hair
more
Skin Nails Hair Skin Histology:
acantholysis
absent anti-pkp1 antibody labelling
widened intercellular spaces between keratinocytes

Skin Nails Hair Skin:
skin blistering
skin fragility
erythema, generalized (neonate)
reduced sweating (in some patients)
skin fissuring (palms and soles)
more
Head And Neck Teeth:
normal dentition

Skeletal Feet:
skin fissuring (soles)
hyperkeratosis (soles)

Head And Neck Eyes:
sparse eyelashes
sparse eyebrows

Skin Nails Hair Nails:
absent nails
dystrophic nails

Head And Neck Mouth:
cheilitis (in some patients)

Skeletal Hands:
skin fissuring (palms)
hyperkeratosis (palms)

Skin Nails Hair Skin Electron Microscopy:
widened intercellular spaces between keratinocytes
compacted perinuclear keratin filaments
loss of keratin filament network to cell periphery
small desmosomes
reduced number of desmosomes

Clinical features from OMIM®:

604536 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Ectodermal Dysplasia/skin Fragility Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased NF-kappaB reporter expression GR00312-A 8.62 DSC2 JUP

Drugs & Therapeutics for Ectodermal Dysplasia/skin Fragility Syndrome

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia/skin Fragility Syndrome

Genetic Tests for Ectodermal Dysplasia/skin Fragility Syndrome

Genetic tests related to Ectodermal Dysplasia/skin Fragility Syndrome:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa Simplex Due to Plakophilin Deficiency 29 PKP1

Anatomical Context for Ectodermal Dysplasia/skin Fragility Syndrome

MalaCards organs/tissues related to Ectodermal Dysplasia/skin Fragility Syndrome:

40
Skin, Tongue

Publications for Ectodermal Dysplasia/skin Fragility Syndrome

Articles related to Ectodermal Dysplasia/skin Fragility Syndrome:

(show all 30)
# Title Authors PMID Year
1
Ectodermal dysplasia-skin fragility syndrome: a novel mutation in the PKP1 gene. 61 6 57
24073657 2013
2
Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1. 61 6 57
16781314 2006
3
Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome. 61 57 6
10951270 2000
4
Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. 61 6 57
9326952 1997
5
Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1. 6 57
11994137 2002
6
Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1. 61 57
12839569 2003
7
Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1. 57
10233227 1999
8
Ectodermal dysplasia-skin fragility syndrome: two new cases with a novel missense mutation. 61
33125806 2020
9
Novel homozygous deletion of the plakophilin-1 gene in a Chinese patient with ectodermal dysplasia-skin fragility syndrome. 61
32346906 2020
10
Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis. 61
32248567 2020
11
[Histopathological and genetical diagnosis of one case of neonatal ectodermal dysplasia/skin fragility syndrome]. 61
32594712 2020
12
A case of mosaicism in ectodermal dysplasia-skin fragility syndrome. 61
28182260 2017
13
Ectodermal dysplasia-skin fragility syndrome with a new mutation. 61
28540868 2017
14
Erratum: Ectodermal dysplasia skin fragility syndrome with a new mutation. 61
28584224 2017
15
Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1. 61
27554337 2016
16
Plakophilin-1, a Novel Wnt Signaling Regulator, Is Critical for Tooth Development and Ameloblast Differentiation. 61
27015268 2016
17
Ectodermal Dysplasia-Skin Fragility Syndrome: A Rare Case Report. 61
26288439 2015
18
A plakophilin-1 gene mutation in an egyptian family with ectodermal dysplasia-skin fragility syndrome. 61
25565931 2014
19
Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene. 61
22309335 2012
20
Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs. 61
22384142 2012
21
Ectodermal dysplasia-skin fragility syndrome. 61
21727700 2011
22
Ectodermal dysplasia-skin fragility syndrome. 61
19945625 2010
23
Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder. 61
19067702 2009
24
Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families. 61
19016709 2009
25
Carboxyl terminus of Plakophilin-1 recruits it to plasma membrane, whereas amino terminus recruits desmoplakin and promotes desmosome assembly. 61
16632867 2006
26
Histopathological and ultrastructural study of ectodermal dysplasia/skin fragility syndrome. 61
16121056 2005
27
Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome. 61
16159729 2005
28
Clinical and molecular significance of splice site mutations in the plakophilin 1 gene in patients with ectodermal dysplasia-skin fragility syndrome. 61
16159727 2005
29
Plakophilin 1: an important stabilizer of desmosomes. 61
14987275 2004
30
Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families. 61
15086548 2004

Variations for Ectodermal Dysplasia/skin Fragility Syndrome

ClinVar genetic disease variations for Ectodermal Dysplasia/skin Fragility Syndrome:

6 (show top 50) (show all 177)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PKP1 NM_001005337.3(PKP1):c.910C>T (p.Gln304Ter) SNV Pathogenic 7603 rs121918354 1:201286763-201286763 1:201317635-201317635
2 PKP1 PKP1, 28-BP DUP, NT1132 Duplication Pathogenic 7604
3 PKP1 NM_001005337.3(PKP1):c.1233-2A>T SNV Pathogenic 7605 rs1558193923 1:201289393-201289393 1:201320265-201320265
4 PKP1 NM_001005337.3(PKP1):c.2021+1G>A SNV Pathogenic 812568 rs1571564381 1:201294256-201294256 1:201325128-201325128
5 PKP1 NM_001005337.3(PKP1):c.889del (p.Arg297fs) Deletion Pathogenic 812569 rs1571557821 1:201286741-201286741 1:201317613-201317613
6 PKP1 NM_001005337.3(PKP1):c.1233-2A>G SNV Pathogenic 812570 rs1558193923 1:201289393-201289393 1:201320265-201320265
7 PKP1 NM_001005337.3(PKP1):c.841C>T (p.Gln281Ter) SNV Likely pathogenic 495106 rs1553275192 1:201285820-201285820 1:201316692-201316692
8 PKP1 NM_001005337.3(PKP1):c.1681-1G>A SNV Uncertain significance 632097 rs1558196067 1:201293555-201293555 1:201324427-201324427
9 PKP1 NM_001005337.3(PKP1):c.*448T>C SNV Uncertain significance 876033 1:201299617-201299617 1:201330489-201330489
10 PKP1 NM_001005337.3(PKP1):c.*1203C>T SNV Uncertain significance 876095 1:201300372-201300372 1:201331244-201331244
11 PKP1 NM_001005337.3(PKP1):c.*1443G>A SNV Uncertain significance 876096 1:201300612-201300612 1:201331484-201331484
12 PKP1 NM_001005337.3(PKP1):c.*2805C>G SNV Uncertain significance 876297 1:201301974-201301974 1:201332846-201332846
13 PKP1 NM_001005337.3(PKP1):c.750T>C (p.Ala250=) SNV Uncertain significance 876903 1:201285729-201285729 1:201316601-201316601
14 PKP1 NM_001005337.3(PKP1):c.790A>C (p.Ile264Leu) SNV Uncertain significance 876904 1:201285769-201285769 1:201316641-201316641
15 PKP1 NM_001005337.3(PKP1):c.1859C>T (p.Thr620Ile) SNV Uncertain significance 876945 1:201294093-201294093 1:201324965-201324965
16 PKP1 NM_001005337.3(PKP1):c.2015G>A (p.Arg672Gln) SNV Uncertain significance 876946 1:201294249-201294249 1:201325121-201325121
17 PKP1 NM_001005337.3(PKP1):c.2051G>A (p.Arg684Gln) SNV Uncertain significance 876947 1:201294911-201294911 1:201325783-201325783
18 PKP1 NM_001005337.3(PKP1):c.*713T>G SNV Uncertain significance 877004 1:201299882-201299882 1:201330754-201330754
19 PKP1 NM_001005337.3(PKP1):c.*1558C>T SNV Uncertain significance 877048 1:201300727-201300727 1:201331599-201331599
20 PKP1 NM_001005337.3(PKP1):c.*861A>G SNV Uncertain significance 874214 1:201300030-201300030 1:201330902-201330902
21 PKP1 NM_001005337.3(PKP1):c.*894T>C SNV Uncertain significance 874215 1:201300063-201300063 1:201330935-201330935
22 PKP1 NM_001005337.3(PKP1):c.*1730G>A SNV Uncertain significance 874266 1:201300899-201300899 1:201331771-201331771
23 PKP1 NM_001005337.3(PKP1):c.*2281C>T SNV Uncertain significance 874267 1:201301450-201301450 1:201332322-201332322
24 PKP1 NM_001005337.3(PKP1):c.1347+7G>A SNV Uncertain significance 875045 1:201289516-201289516 1:201320388-201320388
25 PKP1 NM_001005337.3(PKP1):c.1326G>T (p.Ala442=) SNV Uncertain significance 875044 1:201289488-201289488 1:201320360-201320360
26 PKP1 NM_001005337.3(PKP1):c.1258C>T (p.Arg420Cys) SNV Uncertain significance 875043 1:201289420-201289420 1:201320292-201320292
27 PKP1 NM_001005337.3(PKP1):c.1200T>C (p.Pro400=) SNV Uncertain significance 875042 1:201287891-201287891 1:201318763-201318763
28 PKP1 NM_001005337.3(PKP1):c.1132C>T (p.Arg378Cys) SNV Uncertain significance 875041 1:201287823-201287823 1:201318695-201318695
29 PKP1 NM_001005337.3(PKP1):c.*2591G>A SNV Uncertain significance 876155 1:201301760-201301760 1:201332632-201332632
30 PKP1 NM_000299.3(PKP1):c.-235G>T SNV Uncertain significance 874055 1:201252596-201252596 1:201283468-201283468
31 PKP1 NM_001005337.3(PKP1):c.919G>T (p.Ala307Ser) SNV Uncertain significance 874107 1:201286772-201286772 1:201317644-201317644
32 PKP1 NM_001005337.3(PKP1):c.945G>A (p.Val315=) SNV Uncertain significance 874108 1:201286798-201286798 1:201317670-201317670
33 PKP1 NM_001005337.3(PKP1):c.*221C>T SNV Uncertain significance 874162 1:201299390-201299390 1:201330262-201330262
34 PKP1 NM_001005337.3(PKP1):c.*741G>A SNV Uncertain significance 874212 1:201299910-201299910 1:201330782-201330782
35 PKP1 NM_001005337.3(PKP1):c.*933A>G SNV Uncertain significance 875135 1:201300102-201300102 1:201330974-201330974
36 PKP1 NM_001005337.3(PKP1):c.*1064G>A SNV Uncertain significance 875136 1:201300233-201300233 1:201331105-201331105
37 PKP1 NM_001005337.3(PKP1):c.*1132T>A SNV Uncertain significance 875137 1:201300301-201300301 1:201331173-201331173
38 PKP1 NM_001005337.3(PKP1):c.*2408A>G SNV Uncertain significance 875195 1:201301577-201301577 1:201332449-201332449
39 PKP1 NM_001005337.3(PKP1):c.*2460C>T SNV Uncertain significance 875196 1:201301629-201301629 1:201332501-201332501
40 PKP1 NM_001005337.3(PKP1):c.*2501C>T SNV Uncertain significance 875197 1:201301670-201301670 1:201332542-201332542
41 PKP1 NM_001005337.3(PKP1):c.383G>A (p.Arg128Gln) SNV Uncertain significance 875908 1:201282370-201282370 1:201313242-201313242
42 PKP1 NM_001005337.3(PKP1):c.417C>T (p.Gly139=) SNV Uncertain significance 875909 1:201282404-201282404 1:201313276-201313276
43 PKP1 NM_001005337.3(PKP1):c.453G>T (p.Lys151Asn) SNV Uncertain significance 875910 1:201282440-201282440 1:201313312-201313312
44 PKP1 NM_001005337.3(PKP1):c.1358A>G (p.Asn453Ser) SNV Uncertain significance 875967 1:201291116-201291116 1:201321988-201321988
45 PKP1 NM_001005337.3(PKP1):c.1401C>T (p.Ala467=) SNV Uncertain significance 875968 1:201291159-201291159 1:201322031-201322031
46 PKP1 NM_001005337.3(PKP1):c.1438G>A (p.Ala480Thr) SNV Uncertain significance 875969 1:201291196-201291196 1:201322068-201322068
47 PKP1 NM_001005337.3(PKP1):c.1615A>G (p.Lys539Glu) SNV Uncertain significance 875970 1:201292252-201292252 1:201323124-201323124
48 DSP NM_004415.4(DSP):c.*300C>A SNV Uncertain significance 357976 rs886061750 6:7586411-7586411 6:7586178-7586178
49 PKP1 NM_001005337.3(PKP1):c.*1040G>A SNV Uncertain significance 294859 rs774719541 1:201300209-201300209 1:201331081-201331081
50 PKP1 NM_001005337.3(PKP1):c.*224delinsGG Indel Uncertain significance 294836 rs1571568145 1:201299393-201299393 1:201330265-201330265

Expression for Ectodermal Dysplasia/skin Fragility Syndrome

Search GEO for disease gene expression data for Ectodermal Dysplasia/skin Fragility Syndrome.

Pathways for Ectodermal Dysplasia/skin Fragility Syndrome

Pathways related to Ectodermal Dysplasia/skin Fragility Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 PKP1 JUP DSP DSC2
2 11.52 JUP DSP
3
Show member pathways
11.47 PKP1 DSP
4
Show member pathways
11.4 PKP1 DSP
5
Show member pathways
11.38 PKP1 JUP DSP DSC2
6 11.32 JUP DSP DSC2
7 11.07 JUP DSP
8 10.66 JUP DSP

GO Terms for Ectodermal Dysplasia/skin Fragility Syndrome

Cellular components related to Ectodermal Dysplasia/skin Fragility Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.71 PKP1 JUP DSP DSC2
2 intermediate filament GO:0005882 9.61 PKP1 JUP DSP
3 cell-cell junction GO:0005911 9.54 JUP DSP DSC2
4 adherens junction GO:0005912 9.5 PKP1 JUP DSC2
5 ficolin-1-rich granule membrane GO:0101003 9.46 PKP1 DSP
6 intercalated disc GO:0014704 9.33 JUP DSP DSC2
7 fascia adherens GO:0005916 9.26 JUP DSP
8 cornified envelope GO:0001533 9.26 PKP1 JUP DSP DSC2
9 desmosome GO:0030057 8.92 PKP1 JUP DSP DSC2

Biological processes related to Ectodermal Dysplasia/skin Fragility Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.65 PKP1 JUP DSC2
2 neutrophil degranulation GO:0043312 9.63 PKP1 JUP DSP
3 keratinization GO:0031424 9.62 PKP1 JUP DSP DSC2
4 cell-cell adhesion GO:0098609 9.56 PKP1 JUP DSP DSC2
5 regulation of heart rate by cardiac conduction GO:0086091 9.54 JUP DSP DSC2
6 cornification GO:0070268 9.46 PKP1 JUP DSP DSC2
7 skin development GO:0043588 9.43 JUP DSP
8 adherens junction organization GO:0034332 9.4 JUP DSP
9 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.13 JUP DSP DSC2
10 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 8.8 JUP DSP DSC2

Molecular functions related to Ectodermal Dysplasia/skin Fragility Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.16 JUP DSP
2 cell adhesion molecule binding GO:0050839 8.96 JUP DSP
3 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 8.8 JUP DSP DSC2

Sources for Ectodermal Dysplasia/skin Fragility Syndrome

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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