MCID: JJN004
MIFTS: 32

Jejunal Atresia

Categories: Rare diseases, Gastrointestinal diseases, Fetal diseases, Genetic diseases

Aliases & Classifications for Jejunal Atresia

MalaCards integrated aliases for Jejunal Atresia:

Name: Jejunal Atresia 57 76 53 59
Apple Peel Syndrome 57 53 59
Apple Peel Small Bowel Syndrome 57 53
Intestinal Atresia Type Iiib 53 59
Atresia of Small Intestine 53 59
Small Intestinal Atresia 53 59
Jejunoileal Atresia 53 59
Apsb 57 53
Apple Peel Small Bowel Syndrome; Apsb 57
Familial Apple Peel Jejunal Atresia 53
Apple-Peel Intestinal Atresia 53
Intestinal Atresia 73

Characteristics:

Orphanet epidemiological data:

59
atresia of small intestine
Inheritance: Autosomal recessive,Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (France),1-9/100000 (Spain),1-5/10000 (Ireland),1-5/10000 (Portugal),1-5/10000 (Italy),1-5/10000 (Reunion),1-9/100000 (Switzerland),1-5/10000 (Austria),1-5/10000 (Germany),1-5/10000 (Denmark),1-5/10000 (Malta),1-5/10000 (United Kingdom),1-5/10000 (Belgium); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
jejunal atresia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 243600
Orphanet 59 ORPHA1201
UMLS via Orphanet 74 C0021828 C0266175 C0266172
MESH via Orphanet 45 C538260
ICD10 via Orphanet 34 Q41.0 Q41.1 Q41.8 more
MedGen 42 C0266175
SNOMED-CT via HPO 69 258211005 204702007 360491009

Summaries for Jejunal Atresia

NIH Rare Diseases : 53 Jejunal atresia is a birth defect in a newborn characterized by partial or complete absence of the membrane connecting the small intestines to the abdominal wall (the mesentery). It causes a portion of the small intestines (the jejunum) to twist around an artery that supplies blood to the colon (the marginal artery). This leads to an intestinal blockage or "atresia." Common symptoms in the newborn include feeding difficulties, failure to thrive, vomiting bile (a yellowish-green fluid), abdominal swelling, and/or absence of bowel movements after birth. It typically occurs sporadically in people with no family history of the condition; however, more than one family member can rarely be affected, suggesting that there may be a genetic component in some cases. Jejunal atresia is typically treated with surgery.

MalaCards based summary : Jejunal Atresia, also known as apple peel syndrome, is related to coronal synostosis, syndactyly and jejunal atresia and jejunal atresia with renal adysplasia. An important gene associated with Jejunal Atresia is RFX6 (Regulatory Factor X6). Affiliated tissues include small intestine, colon and smooth muscle, and related phenotypes are abnormality of abdomen morphology and jejunal atresia

OMIM : 57 Jejunal atresia is the most common cause of bowel obstruction in the newborn. In this condition, because of agenesis of the mesentery, the distal small bowel comes straight off the caecum and twists around the marginal artery, suggesting a maypole, a Christmas tree, or an apple peel at operation. Obliteration of the superior mesenteric artery may underlie this malformation. (243600)

Wikipedia : 76 Intestinal atresia is a malformation where there is a narrowing or absence of a portion of the... more...

Related Diseases for Jejunal Atresia

Diseases related to Jejunal Atresia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 coronal synostosis, syndactyly and jejunal atresia 12.2
2 jejunal atresia with renal adysplasia 12.1
3 stromme syndrome 11.4
4 mitchell-riley syndrome 11.1
5 atresia of small intestine 11.1
6 pfeiffer rockelein syndrome 11.1
7 duodenitis 10.2
8 intussusception 10.1
9 gastroschisis 10.0
10 polydactyly 9.9
11 pyloric stenosis 9.9
12 biliary atresia 9.9
13 situs inversus 9.9
14 type i 9.9
15 renal dysplasia 9.9
16 hypoglossia-hypodactylia 9.7
17 down syndrome 9.7
18 anus, imperforate 9.7
19 cystic fibrosis 9.7
20 duodenal atresia 9.7
21 pyloric atresia 9.7
22 colonic atresia 9.7
23 alpha-thalassemia 9.7
24 gastrointestinal stromal tumor 9.7
25 choanal atresia, posterior 9.7
26 meconium ileus 9.7
27 thalassemia 9.7
28 omphalocele 9.7
29 mucositis 9.7
30 microcephaly 9.7
31 synostosis 9.7
32 hypertrophic pyloric stenosis 9.7
33 leiomyoma 9.7
34 obstructive jaundice 9.7
35 lymphangioma 9.7
36 cystic lymphangioma 9.7
37 arthropathy 9.7
38 pancreatitis 9.7
39 intestinal volvulus 9.7
40 rubella 9.7
41 triple x syndrome 9.7
42 congenital rubella 9.7
43 hanhart syndrome 9.7
44 aneurysm 9.7

Graphical network of the top 20 diseases related to Jejunal Atresia:



Diseases related to Jejunal Atresia

Symptoms & Phenotypes for Jejunal Atresia

Symptoms via clinical synopsis from OMIM:

57
GI:
mesenteric agenesis
distal small bowel twisted around the marginal artery
jejunal atresia
superior mesenteric artery obliteration


Clinical features from OMIM:

243600

Human phenotypes related to Jejunal Atresia:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of abdomen morphology 32 HP:0001438
2 jejunal atresia 32 HP:0005235

Drugs & Therapeutics for Jejunal Atresia

Search Clinical Trials , NIH Clinical Center for Jejunal Atresia

Genetic Tests for Jejunal Atresia

Anatomical Context for Jejunal Atresia

MalaCards organs/tissues related to Jejunal Atresia:

41
Small Intestine, Colon, Smooth Muscle

Publications for Jejunal Atresia

Articles related to Jejunal Atresia:

(show top 50) (show all 112)
# Title Authors Year
1
Neonatal Intramural Calcification in Jejunal Atresia: Case Report of a Rare Phenomenon. ( 29308365 )
2017
2
Congenital duodenal and multiple jejunal atresia with malrotation in a patient with Down syndrome. ( 28677208 )
2017
3
Jejunal atresia, periodic fevers and psoriatic arthropathy in Baraitser-Winter malformation syndrome. ( 28872563 )
2017
4
Isolated ascites in a newborn with 'apple peel' jejunal atresia. ( 28974507 )
2017
5
Type I Jejunal Atresia in Identical Twins: A Rare Occurrence. ( 28920028 )
2017
6
Delayed presentation of jejunal atresia. ( 28796978 )
2017
7
Jejunal atresia and unilateral postaxial polydactyly: second report of a rare association. ( 28059850 )
2017
8
Closed Gastroschisis with Vanished Small Bowel and Jejunal Atresia. ( 27896173 )
2016
9
Imperforate Anus with Jejunal Atresia Complicated by Intestinal Volvulus: A Case Report. ( 27896167 )
2016
10
A functional study on small intestinal smooth muscles in jejunal atresia. ( 26862290 )
2016
11
HDlive silhouette mode in antenatal diagnosis of jejunal atresia. ( 26336808 )
2015
12
The Combination of Gastroschisis, Jejunal Atresia, and Colonic Atresia in a Newborn. ( 26180651 )
2015
13
Acquired Jejunal Atresia in a 2-Month-old Infant. ( 25738024 )
2015
14
Familial apple peel jejunal atresia with helical umbilical cord ulcerations in three consecutive pregnancies. ( 26213797 )
2015
15
Laparoscope-assisted intestinal lengthening using an anterior flap in jejunal atresia. ( 26499914 )
2015
16
A Rare Case of Jejunal Atresia Due to Intrauterine Intussusception. ( 26500958 )
2015
17
Gastrointestinal stromal tumor, jejunal atresia and stenosis in a neonate. ( 25607416 )
2014
18
Jejunal atresia and postaxial polydactyly: a newly recognized phenotype. ( 23722701 )
2013
19
Congenital left ventricular diverticulum associated with congenital ileo-jejunal atresia. ( 22576766 )
2012
20
Jejunal atresia in a neonate due to intrauterine intussusception. ( 22410517 )
2012
21
Clinical experience of complex jejunal atresia. ( 22806604 )
2012
22
Preduodenal portal vein, malrotation, and high jejunal atresia: a case report. ( 22244433 )
2012
23
Type IV jejunal atresia with an unusual variation of enteric duplication: report of a case. ( 21191705 )
2011
24
Polysplenia syndrome associated with situs inversus abdominus and type I jejunal atresia. ( 22953285 )
2011
25
Jejunal atresia and anterior chamber anomalies: Further delineation of the StrA,mme syndrome. ( 20219704 )
2010
26
Duodenal derotation and extent tapering jejunoplasty as primary repair for neonates with high jejunal atresia. ( 20951356 )
2010
27
Pathological analysis of umbilical cord ulceration associated with fetal duodenal and jejunal atresia. ( 20810164 )
2010
28
Survival of homozygous alpha-thalassemia with aplasia/hypoplasia of phalanges and jejunal atresia. ( 19521930 )
2009
29
Intrauterine umbilical cord hemorrhage with associated jejunal atresia captured by real-time ultrasound. ( 18992865 )
2009
30
Chronological change in intramural components in severe proximally dilated jejunal atresia: an immunohistochemical study. ( 18493219 )
2008
31
Role of Gastrografin in the treatment of postoperative delayed intestinal transit in patients with jejunal atresia. ( 19112196 )
2008
32
Jejunal atresia presenting with mesenteric cyst in a neonate: a case report. ( 18651960 )
2008
33
A case of fetal midgut volvulus and jejunal atresia: nutritional support and maintenance of mucosal function and integrity. ( 18668397 )
2008
34
Functional jejunal obstruction after jejunal atresia repair: presentation in adulthood. ( 19062677 )
2008
35
Jejunal atresia associated with idiopathic ileal perforation. ( 20011479 )
2008
36
Intrauterine intussusception in etiology of jejunal atresia. ( 18577861 )
2008
37
Minimal access approach to jejunal atresia. ( 17706497 )
2007
38
A case of congenital jejunal atresia associated with bilateral athelia and choanal atresia: new syndrome spectrum. ( 16317306 )
2006
39
Serial transverse enteroplasty as primary therapy for neonates with proximal jejunal atresia. ( 15793710 )
2005
40
Novel procedures for enhancing high jejunal atresia repair: bilateral side-plication and plication before anastomosis. ( 16133512 )
2005
41
Biliary atresia associated with jejunal atresia and a review of the literature in Japan. ( 15851374 )
2005
42
Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal. ( 14994240 )
2004
43
Late presentation of a duodenal web in a patient with situs inversus and apple peel jejunal atresia. ( 15221369 )
2004
44
Jejunal atresia in an infant with triple-X syndrome. ( 15590447 )
2004
45
Jejunal atresia related to the use of toluidine blue in genetic amniocentesis in twins. ( 12825485 )
2003
46
The association of jejunal atresia and cystic lymphangioma in the same location. ( 12891508 )
2003
47
The diagnostic value of the triple bubble sign in proximal jejunal atresia: a case report. ( 15030076 )
2003
48
Bowel plication in addition to primary anastomosis in patients with jejunal atresia. ( 12077783 )
2002
49
Duodeno-jejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery: a hereditary compound structure in duodenal atresia? ( 11932992 )
2002
50
Results of bowel plication in addition to primary anastomosis in patients with jejunal atresia. ( 11733899 )
2001

Variations for Jejunal Atresia

Expression for Jejunal Atresia

Search GEO for disease gene expression data for Jejunal Atresia.

Pathways for Jejunal Atresia

GO Terms for Jejunal Atresia

Sources for Jejunal Atresia

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
50 NCIt
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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