EB-PA
MCID: EPD025
MIFTS: 35

Epidermolysis Bullosa with Pyloric Atresia (EB-PA)

Categories: Gastrointestinal diseases, Nephrological diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa with Pyloric Atresia

MalaCards integrated aliases for Epidermolysis Bullosa with Pyloric Atresia:

Name: Epidermolysis Bullosa with Pyloric Atresia 25 43 6 70
Eb-Pa 25 43 54
Junctional Epidermolysis Bullosa with Pyloric Atresia 25 43
Carmi Syndrome 25 43
Pa-Jeb 25 43

Characteristics:

GeneReviews:

25
Penetrance Pathogenic variants in itga6, itgb4, and plec are 100% penetrant in individuals who have biallelic pathogenic variants in the same gene.

Classifications:



External Ids:

UMLS 70 C1856934

Summaries for Epidermolysis Bullosa with Pyloric Atresia

MedlinePlus Genetics : 43 Epidermolysis bullosa with pyloric atresia (EB-PA) is a condition that affects the skin and digestive tract. This condition is one of several forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and to blister easily. Affected infants are often born with widespread blistering and areas of missing skin. Blisters continue to appear in response to minor injury or friction, such as rubbing or scratching. Most often, blisters occur over the whole body and affect mucous membranes such as the moist lining of the mouth and digestive tract.People with EB-PA are also born with pyloric atresia, which is a blockage (obstruction) of the lower part of the stomach (the pylorus). This obstruction prevents food from emptying out of the stomach into the intestine. Signs of pyloric atresia include vomiting, a swollen (distended) abdomen, and an absence of stool. Pyloric atresia is life-threatening and must be repaired with surgery soon after birth.Other complications of EB-PA can include fusion of the skin between the fingers and toes, abnormalities of the fingernails and toenails, joint deformities (contractures) that restrict movement, and hair loss (alopecia). Some affected individuals are also born with malformations of the urinary tract, including the kidneys and bladder.Because the signs and symptoms of EB-PA are so severe, many infants with this condition do not survive beyond the first year of life. In those who survive, the condition may improve with time; some affected individuals have little or no blistering later in life. However, many affected individuals who live past infancy experience severe health problems, including blistering and the formation of red, bumpy patches called granulation tissue. Granulation tissue most often forms on the skin around the mouth, nose, fingers, and toes. It can also build up in the airway, leading to difficulty breathing.

MalaCards based summary : Epidermolysis Bullosa with Pyloric Atresia, also known as eb-pa, is related to epidermolysis bullosa junctionalis with pyloric atresia and epidermolysis bullosa. An important gene associated with Epidermolysis Bullosa with Pyloric Atresia is ITGB4 (Integrin Subunit Beta 4), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. Affiliated tissues include skin.

GeneReviews: NBK1157

Related Diseases for Epidermolysis Bullosa with Pyloric Atresia

Diseases related to Epidermolysis Bullosa with Pyloric Atresia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa junctionalis with pyloric atresia 31.7 PLEC ITGB4 ITGA6 GALK1
2 epidermolysis bullosa 30.3 PLEC ITGB4 ITGA6 GALK1
3 pyloric atresia 30.3 PLEC ITGB4 ITGA6 GALK1
4 epidermolysis bullosa simplex with pyloric atresia 30.2 PLEC ITGB4
5 junctional epidermolysis bullosa 30.1 PLEC ITGB4 ITGA6 GALK1
6 aplasia cutis congenita, nonsyndromic 29.9 PLEC ITGB4
7 epidermolysis bullosa simplex, localized 29.6 PLEC ITGB4 GALK1
8 epidermolysis bullosa simplex 29.6 PLEC ITGB4 GALK1
9 epidermolysis bullosa, junctional, non-herlitz type 29.6 PLEC ITGB4 GALK1
10 skin disease 29.1 PLEC ITGB4 ITGA6
11 muscular dystrophy 10.5
12 erythrokeratoderma ''en cocardes'' 10.5
13 autosomal recessive disease 10.5
14 polyhydramnios 10.4
15 gastroesophageal reflux 10.2
16 epidermolysis bullosa simplex, ogna type 10.2
17 ureterocele 10.2
18 epidermolysis bullosa simplex with muscular dystrophy 10.2
19 muscular dystrophy, limb-girdle, autosomal recessive 17 10.2
20 epidermolysis bullosa simplex with nail dystrophy 10.2
21 polycystic kidney disease 10.2
22 hydronephrosis 10.2
23 pyloric stenosis 10.2
24 dilated cardiomyopathy 10.2
25 gastric dilatation 10.2
26 hypotrichosis 10.2
27 autosomal dominant polycystic kidney disease 10.2
28 alopecia 10.2
29 epidermolysa bullosa simplex with muscular dystrophy 10.2
30 rare genetic skin disease 10.2
31 inherited epidermolysis bullosa 10.2
32 linear iga disease 10.1
33 enterocolitis 10.0
34 protein-losing enteropathy 10.0
35 compartment syndrome 10.0
36 peritonitis 10.0
37 pemphigoid 9.9 ITGB4 ITGA6
38 ocular cicatricial pemphigoid 9.8 ITGB4 ITGA6
39 cicatricial pemphigoid 9.7 ITGB4 ITGA6
40 epidermolysis bullosa dystrophica 9.6 PLEC ITGB4
41 kindler syndrome 9.4 PLEC ITGB4 ITGA6
42 bullous pemphigoid 9.4 PLEC ITGB4 ITGA6
43 arrhythmogenic right ventricular cardiomyopathy 9.4 PLEC ITGB4 ITGA6

Graphical network of the top 20 diseases related to Epidermolysis Bullosa with Pyloric Atresia:



Diseases related to Epidermolysis Bullosa with Pyloric Atresia

Symptoms & Phenotypes for Epidermolysis Bullosa with Pyloric Atresia

Drugs & Therapeutics for Epidermolysis Bullosa with Pyloric Atresia

Search Clinical Trials , NIH Clinical Center for Epidermolysis Bullosa with Pyloric Atresia

Genetic Tests for Epidermolysis Bullosa with Pyloric Atresia

Anatomical Context for Epidermolysis Bullosa with Pyloric Atresia

MalaCards organs/tissues related to Epidermolysis Bullosa with Pyloric Atresia:

40
Skin

Publications for Epidermolysis Bullosa with Pyloric Atresia

Articles related to Epidermolysis Bullosa with Pyloric Atresia:

(show top 50) (show all 106)
# Title Authors PMID Year
1
Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. 25 61 54 6
11328943 2001
2
Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. 54 61 6 25
9892956 1998
3
Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. 25 61 54 6
9792864 1998
4
Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia. 6 25 61
26739954 2016
5
Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation. 61 25 6
18955862 2008
6
Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. 25 6 61
11251584 2001
7
Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing. 61 6 25
10484780 1999
8
Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia. 61 6 25
9546354 1998
9
A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia. 6 61 25
9185503 1997
10
Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients. 6 25
18348258 2008
11
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. 54 61 6
15654962 2005
12
Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex. 6 25
12485428 2002
13
A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. 6 25
11851880 2002
14
Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations. 6 61
23496044 2013
15
Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease. 6 61
9674902 1998
16
Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. 6 61
7545057 1995
17
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. 6
32576985 2020
18
Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia. 61 25
27607025 2017
19
Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement. 25 61
27813154 2017
20
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4). 25 61
27186702 2015
21
Prenatal ultrasound findings and a new ultrasonographic sign of epidermolysis bullosa with congenital pyloric atresia: a report of three cases. 61 25
27278032 2014
22
The key role of ultrasound examination in the prenatal diagnosis of epidermolysis bullosa with pyloric atresia. 25 61
23613220 2013
23
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. 6
23289980 2013
24
ITGB4-associated non-Herlitz junctional epidermolysis bullosa: report of two new cases carrying two novel ITGB4 mutations. 6
23013259 2013
25
Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia. 61 25
20596088 2010
26
Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex. 6
20665883 2010
27
Plectin gene defects lead to various forms of epidermolysis bullosa simplex. 6
19945614 2010
28
Junctional Epidermolysis Bullosa 6
20301304 2008
29
Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia. 61 25
14705814 2003
30
Two different mutations in the cytoplasmic domain of the integrin beta 4 subunit in nonlethal forms of epidermolysis bullosa prevent interaction of beta 4 with plectin. 6
11886501 2001
31
Epidermolysis bullosa, pyloric atresia, and obstructive uropathy: a report of two case reports with molecular correlation and clinical management. 61 25
10990577 2000
32
Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy. 6
10652002 2000
33
Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk. 61 25
10701857 2000
34
A novel homozygous mutation affecting integrin alpha6 in a case of junctional epidermolysis bullosa with pyloric atresia detected in utero by ultrasound examination. 61 25
9804362 1998
35
Basic amino acid residue cluster within nuclear targeting sequence motif is essential for cytoplasmic plectin-vimentin network junctions. 6
8830774 1996
36
Aplasia cutis congenita in two sibs discordant for pyloric atresia. 6
6177243 1982
37
Splicing abnormality of integrin β4 gene (ITGB4) due to nucleotide substitutions far from splice site underlies pyloric atresia-junctional epidermolysis bullosa syndrome. 25
25728941 2015
38
Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation. 25
25454730 2015
39
Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. 25
24690439 2014
40
Pyloric atresia with epidermolysis bullosa: fetal MRI diagnosis with postnatal correlation. 25
23832020 2013
41
Upper airway complications of junctional epidermolysis bullosa. 25
22050875 2012
42
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. 25
21109228 2010
43
Structural basis of the interaction between integrin alpha6beta4 and plectin at the hemidesmosomes. 25
19242489 2009
44
Surgical management of epidermolysis bullosa: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005. 25
17651160 2007
45
Medical management of epidermolysis bullosa: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005. 25
17651159 2007
46
Psychosocial aspects of epidermolysis bullosa: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005. 25
17651161 2007
47
Basic science of epidermolysis bullosa and diagnostic and molecular characterization: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005. 25
17651158 2007
48
Diseases of epidermal keratins and their linker proteins. 25
17531221 2007
49
Treatment decision-making for patients with the Herlitz subtype of junctional epidermolysis bullosa. 25
17363907 2007
50
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. 25
16971478 2007

Variations for Epidermolysis Bullosa with Pyloric Atresia

ClinVar genetic disease variations for Epidermolysis Bullosa with Pyloric Atresia:

6 (show top 50) (show all 2341)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ITGB4 ITGB4, 1-BP INS, 3801T Insertion Pathogenic 14729 GRCh37:
GRCh38:
2 ITGB4 ITGB4, 1-BP DEL, 1150G Deletion Pathogenic 14730 GRCh37:
GRCh38:
3 ITGB4 NM_000213.5(ITGB4):c.467T>C (p.Leu156Pro) SNV Pathogenic 14732 rs121912461 GRCh37: 17:73723934-73723934
GRCh38: 17:75727853-75727853
4 ITGB4 NM_000213.5(ITGB4):c.1660C>T (p.Arg554Ter) SNV Pathogenic 14733 rs121912462 GRCh37: 17:73732134-73732134
GRCh38: 17:75736053-75736053
5 ITGB4 NM_000213.5(ITGB4):c.1684T>C (p.Cys562Arg) SNV Pathogenic 14735 rs121912463 GRCh37: 17:73732158-73732158
GRCh38: 17:75736077-75736077
6 ITGB4 NM_000213.5(ITGB4):c.112T>C (p.Cys38Arg) SNV Pathogenic 14738 rs121912465 GRCh37: 17:73723307-73723307
GRCh38: 17:75727227-75727227
7 ITGB4 ITGB4, IVS31DS, T-A, -19 SNV Pathogenic 14739 GRCh37:
GRCh38:
8 ITGB4 ITGB4, 2,279-BP DEL Deletion Pathogenic 14744 GRCh37:
GRCh38:
9 ITGA6 ITGA6, 1-BP DEL, 791C Deletion Pathogenic 14745 GRCh37:
GRCh38:
10 GALK1 , ITGB4 NM_000213.5(ITGB4):c.4620del (p.Thr1542fs) Deletion Pathogenic 14731 rs794726676 GRCh37: 17:73751840-73751840
GRCh38: 17:75755759-75755759
11 GALK1 , ITGB4 NM_000213.5(ITGB4):c.4643G>A (p.Trp1548Ter) SNV Pathogenic 14737 rs121912464 GRCh37: 17:73751866-73751866
GRCh38: 17:75755785-75755785
12 PLEC NM_201384.3(PLEC):c.1405C>T (p.Gln469Ter) SNV Pathogenic 208860 rs879255260 GRCh37: 8:145007378-145007378
GRCh38: 8:143933210-143933210
13 ITGA6 NM_001079818.3(ITGA6):c.3115-2267del Deletion Pathogenic 623184 rs1559159868 GRCh37: 2:173366551-173366551
GRCh38: 2:172501823-172501823
14 ITGB4 GRCh37/hg19 17q25.1(chr17:73735514-73739660) copy number loss Pathogenic 915996 GRCh37: 17:73735514-73739660
GRCh38:
15 PLEC NM_201384.3(PLEC):c.7504_7507del (p.Leu2502fs) Deletion Pathogenic 538947 rs1554689309 GRCh37: 8:144996482-144996485
GRCh38: 8:143922314-143922317
16 PLEC NM_201384.3(PLEC):c.8080_8084dup (p.Ser2696fs) Duplication Pathogenic 840189 GRCh37: 8:144995904-144995905
GRCh38: 8:143921736-143921737
17 ITGB4 NM_000213.5(ITGB4):c.3793+1G>A SNV Pathogenic 14736 rs147222357 GRCh37: 17:73747193-73747193
GRCh38: 17:75751112-75751112
18 GALK1 , ITGB4 NM_000213.5(ITGB4):c.3841C>T (p.Arg1281Trp) SNV Pathogenic 14742 rs121912467 GRCh37: 17:73748302-73748302
GRCh38: 17:75752221-75752221
19 PLEC NM_201384.3(PLEC):c.5917C>T (p.Arg1973Trp) SNV Pathogenic 8262 rs80338756 GRCh37: 8:144998180-144998180
GRCh38: 8:143924012-143924012
20 ITGB4 NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr) SNV Pathogenic 14734 rs80338755 GRCh37: 17:73723504-73723504
GRCh38: 17:75727423-75727423
21 ITGB4 NM_000213.5(ITGB4):c.3674G>A (p.Arg1225His) SNV Pathogenic 14743 rs121912468 GRCh37: 17:73747073-73747073
GRCh38: 17:75750992-75750992
22 ITGB4 NM_000213.5(ITGB4):c.472_566+184del Deletion Pathogenic 1048031 GRCh37: 17:73724458-73724736
GRCh38: 17:75728377-75728655
23 ITGB4 NM_000213.5(ITGB4):c.701G>T (p.Gly234Val) SNV Pathogenic 1048032 GRCh37: 17:73725480-73725480
GRCh38: 17:75729399-75729399
24 ITGB4 NM_000213.5(ITGB4):c.847C>T (p.Arg283Cys) SNV Pathogenic 1048060 GRCh37: 17:73726430-73726430
GRCh38: 17:75730349-75730349
25 ITGB4 NM_000213.5(ITGB4):c.997T>G (p.Tyr333Asp) SNV Pathogenic 1048061 GRCh37: 17:73726580-73726580
GRCh38: 17:75730499-75730499
26 ITGB4 NM_000213.5(ITGB4):c.1370G>A (p.Cys457Tyr) SNV Pathogenic 1048062 GRCh37: 17:73728047-73728047
GRCh38: 17:75731966-75731966
27 ITGB4 NM_000213.5(ITGB4):c.2012G>C (p.Cys671Ser) SNV Pathogenic 1048063 GRCh37: 17:73733424-73733424
GRCh38: 17:75737343-75737343
28 ITGB4 NM_000213.5(ITGB4):c.2465T>C (p.Leu822Ser) SNV Pathogenic 1048064 GRCh37: 17:73736457-73736457
GRCh38: 17:75740376-75740376
29 ITGB4 NM_000213.5(ITGB4):c.2633+1G>A SNV Pathogenic 1048065 GRCh37: 17:73737087-73737087
GRCh38: 17:75741006-75741006
30 ITGB4 NM_000213.5(ITGB4):c.3040C>T (p.Arg1014Trp) SNV Pathogenic 1048066 GRCh37: 17:73739871-73739871
GRCh38: 17:75743790-75743790
31 ITGB4 NM_000213.5(ITGB4):c.3321_3331del (p.Asp1109fs) Deletion Pathogenic 1048067 GRCh37: 17:73746194-73746204
GRCh38: 17:75750113-75750123
32 ITGB4 NM_000213.5(ITGB4):c.3707_3725del (p.Thr1236fs) Deletion Pathogenic 1048068 GRCh37: 17:73747103-73747121
GRCh38: 17:75751022-75751040
33 ITGB4 NM_000213.5(ITGB4):c.2783-2A>G SNV Pathogenic/Likely pathogenic 208591 rs758551913 GRCh37: 17:73738661-73738661
GRCh38: 17:75742580-75742580
34 ITGA6 NM_001079818.3(ITGA6):c.2938_2939insT (p.Asp980fs) Insertion Likely pathogenic 1028613 GRCh37: 2:173356201-173356202
GRCh38: 2:172491473-172491474
35 GALK1 , ITGB4 NM_000213.5(ITGB4):c.5091del (p.Glu1698fs) Deletion Likely pathogenic 973871 GRCh37: 17:73753058-73753058
GRCh38: 17:75756977-75756977
36 GALK1 , ITGB4 NM_000213.5(ITGB4):c.5329+2T>C SNV Likely pathogenic 225396 rs762236241 GRCh37: 17:73753393-73753393
GRCh38: 17:75757312-75757312
37 PLEC NC_000008.10:g.(?_145008783)_(145018851_?)dup Duplication Likely pathogenic 658433 GRCh37: 8:145008783-145018851
GRCh38: 8:143934615-143944683
38 PLEC NM_201384.3(PLEC):c.3261-1G>A SNV Likely pathogenic 577780 rs111730406 GRCh37: 8:145002161-145002161
GRCh38: 8:143927993-143927993
39 PLEC NM_201384.3(PLEC):c.9000_9001delinsTT (p.Gln3001Ter) Indel Likely pathogenic 499702 rs1554683108 GRCh37: 8:144994988-144994989
GRCh38: 8:143920820-143920821
40 PLEC NM_201384.3(PLEC):c.11350C>T (p.Gln3784Ter) SNV Likely pathogenic 538961 rs1554675388 GRCh37: 8:144992639-144992639
GRCh38: 8:143918471-143918471
41 PLEC NM_201384.3(PLEC):c.1060C>T (p.Gln354Ter) SNV Likely pathogenic 417887 rs1060499581 GRCh37: 8:145008595-145008595
GRCh38: 8:143934427-143934427
42 ITGB4 NM_000213.5(ITGB4):c.2986C>T (p.Gln996Ter) SNV Likely pathogenic 402232 rs772142634 GRCh37: 17:73739817-73739817
GRCh38: 17:75743736-75743736
43 ITGA6 NM_001079818.3(ITGA6):c.2926C>T (p.Arg976Ter) SNV Conflicting interpretations of pathogenicity 632334 rs769808745 GRCh37: 2:173356189-173356189
GRCh38: 2:172491461-172491461
44 PLEC NM_201384.3(PLEC):c.3293C>T (p.Thr1098Met) SNV Uncertain significance 493486 rs377368835 GRCh37: 8:145002128-145002128
GRCh38: 8:143927960-143927960
45 PLEC NM_201384.3(PLEC):c.9896G>A (p.Arg3299Gln) SNV Uncertain significance 497088 rs368318946 GRCh37: 8:144994093-144994093
GRCh38: 8:143919925-143919925
46 PLEC NM_201384.3(PLEC):c.4210C>T (p.Arg1404Trp) SNV Uncertain significance 651142 rs782370378 GRCh37: 8:144999887-144999887
GRCh38: 8:143925719-143925719
47 PLEC NM_201384.3(PLEC):c.4220C>T (p.Ala1407Val) SNV Uncertain significance 510552 rs548430154 GRCh37: 8:144999877-144999877
GRCh38: 8:143925709-143925709
48 PLEC NM_201384.3(PLEC):c.4676G>A (p.Arg1559Gln) SNV Uncertain significance 659895 rs371895113 GRCh37: 8:144999421-144999421
GRCh38: 8:143925253-143925253
49 PLEC NM_201384.3(PLEC):c.9929C>T (p.Ala3310Val) SNV Uncertain significance 380359 rs183230983 GRCh37: 8:144994060-144994060
GRCh38: 8:143919892-143919892
50 PLEC NM_201384.3(PLEC):c.11633C>T (p.Ser3878Leu) SNV Uncertain significance 665714 rs782567022 GRCh37: 8:144992356-144992356
GRCh38: 8:143918188-143918188

Expression for Epidermolysis Bullosa with Pyloric Atresia

Search GEO for disease gene expression data for Epidermolysis Bullosa with Pyloric Atresia.

Pathways for Epidermolysis Bullosa with Pyloric Atresia

Pathways related to Epidermolysis Bullosa with Pyloric Atresia according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.34 PLEC ITGB4 ITGA6
2
Show member pathways
12.2 PLEC ITGB4 ITGA6
3
Show member pathways
12.12 PLEC ITGB4 ITGA6
4 11.84 ITGB4 ITGA6
5
Show member pathways
11.82 ITGB4 ITGA6
6 11.79 ITGB4 ITGA6
7
Show member pathways
11.72 ITGB4 ITGA6
8 11.69 ITGB4 ITGA6
9
Show member pathways
11.63 ITGB4 ITGA6
10 11.5 ITGB4 ITGA6
11 11.39 ITGB4 ITGA6
12 11.19 ITGB4 ITGA6
13 11.11 ITGB4 ITGA6
14 10.89 PLEC ITGB4 ITGA6
15 10.86 ITGB4 ITGA6
16 10.65 ITGB4 ITGA6

GO Terms for Epidermolysis Bullosa with Pyloric Atresia

Cellular components related to Epidermolysis Bullosa with Pyloric Atresia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 9.33 PLEC ITGB4 ITGA6
2 integrin complex GO:0008305 8.96 ITGB4 ITGA6
3 hemidesmosome GO:0030056 8.62 PLEC ITGB4

Biological processes related to Epidermolysis Bullosa with Pyloric Atresia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integrin-mediated signaling pathway GO:0007229 9.26 ITGB4 ITGA6
2 skin morphogenesis GO:0043589 9.16 ITGB4 ITGA6
3 nail development GO:0035878 8.96 ITGB4 ITGA6
4 hemidesmosome assembly GO:0031581 8.8 PLEC ITGB4 ITGA6

Molecular functions related to Epidermolysis Bullosa with Pyloric Atresia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 insulin-like growth factor I binding GO:0031994 8.96 ITGB4 ITGA6
2 neuregulin binding GO:0038132 8.62 ITGB4 ITGA6

Sources for Epidermolysis Bullosa with Pyloric Atresia

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