APSB
MCID: JJN004
MIFTS: 36

Jejunal Atresia (APSB)

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

Aliases & Classifications for Jejunal Atresia

MalaCards integrated aliases for Jejunal Atresia:

Name: Jejunal Atresia 56 74 52 58
Apple Peel Syndrome 56 52 58
Apple Peel Small Bowel Syndrome 56 52
Intestinal Atresia Type Iiib 52 58
Atresia of Small Intestine 52 58
Small Intestinal Atresia 52 58
Jejunoileal Atresia 52 58
Apsb 56 52
Apple Peel Small Bowel Syndrome; Apsb 56
Familial Apple Peel Jejunal Atresia 52
Apple-Peel Intestinal Atresia 52
Intestinal Atresia 71

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal recessive


HPO:

31
jejunal atresia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 243600
MESH via Orphanet 44 C538260
ICD10 via Orphanet 33 Q41.0 Q41.1 Q41.2 more
UMLS via Orphanet 72 C0021828 C0266172 C0266175
Orphanet 58 ORPHA1201
MedGen 41 C0266175
SNOMED-CT via HPO 68 204702007 258211005 360491009
UMLS 71 C0021828

Summaries for Jejunal Atresia

NIH Rare Diseases : 52 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 atresia of small intestine and jejunal atresia with renal adysplasia. An important gene associated with Jejunal Atresia is RFX6 (Regulatory Factor X6). The drugs Coconut and Tocopherol have been mentioned in the context of this disorder. Affiliated tissues include small intestine, colon and liver, and related phenotypes are jejunal atresia and short stature

OMIM : 56 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 : 74 Intestinal atresia is any congenital malformation of the structure of the intestine that causes bowel... more...

Related Diseases for Jejunal Atresia

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

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 atresia of small intestine 12.6
2 jejunal atresia with renal adysplasia 12.6
3 coronal synostosis, syndactyly and jejunal atresia 12.6
4 stromme syndrome 12.1
5 pfeiffer rockelein syndrome 11.4
6 mitchell-riley syndrome 11.4
7 intestinal atresia 10.5
8 intestinal obstruction 10.5
9 volvulus of midgut 10.4
10 oliver syndrome 10.3
11 adams-oliver syndrome 10.3
12 microphthalmia 10.3
13 hydrocephalus 10.3
14 intussusception 10.2
15 situs inversus 10.2
16 colonic atresia 10.2
17 short bowel syndrome 10.2
18 polyhydramnios 10.2
19 fibrosis of extraocular muscles, congenital, 1 10.2
20 duodenal atresia 10.1
21 enterocolitis 10.1
22 gastroschisis 10.1
23 pyloric stenosis 10.1
24 biliary atresia 10.1
25 peritonitis 10.1
26 perinatal necrotizing enterocolitis 10.1
27 abdominal wall defect 10.1
28 overgrowth syndrome 10.1
29 microcolon 10.0
30 polydactyly 10.0
31 microcephaly 10.0
32 hypertrophic pyloric stenosis 10.0
33 diarrhea 10.0
34 bilirubin metabolic disorder 10.0
35 ileus 10.0
36 renal dysplasia 10.0
37 neutropenia 10.0
38 duodenal obstruction 10.0
39 hypoglossia-hypodactylia 9.9
40 breasts and/or nipples, aplasia or hypoplasia of, 1 9.9
41 chromosome 2q35 duplication syndrome 9.9
42 digeorge syndrome 9.9
43 down syndrome 9.9
44 velocardiofacial syndrome 9.9
45 anus, imperforate 9.9
46 cystic fibrosis 9.9
47 megalocornea 9.9
48 pyloric atresia 9.9
49 alpha-thalassemia 9.9
50 gastrointestinal stromal tumor 9.9

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



Diseases related to Jejunal Atresia

Symptoms & Phenotypes for Jejunal Atresia

Human phenotypes related to Jejunal Atresia:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 jejunal atresia 58 31 Frequent (79-30%) HP:0005235
2 short stature 58 Frequent (79-30%)
3 failure to thrive 58 Frequent (79-30%)
4 vomiting 58 Frequent (79-30%)
5 feeding difficulties 58 Frequent (79-30%)
6 intrauterine growth retardation 58 Frequent (79-30%)
7 intestinal malrotation 58 Frequent (79-30%)
8 intestinal hypoplasia 58 Very frequent (99-80%)
9 abdominal distention 58 Frequent (79-30%)
10 abnormal vascular morphology 58 Frequent (79-30%)
11 abnormality of abdomen morphology 31 HP:0001438

Symptoms via clinical synopsis from OMIM:

56
G I:
jejunal atresia
mesenteric agenesis
distal small bowel twisted around the marginal artery
superior mesenteric artery obliteration

Clinical features from OMIM:

243600

Drugs & Therapeutics for Jejunal Atresia

Drugs for Jejunal Atresia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Coconut Approved Phase 4
2
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
3
Sorbitol Approved Phase 4 50-70-4 5780
4
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
5 Tocotrienol Investigational Phase 4 6829-55-6
6 Fat Emulsions, Intravenous Phase 4
7 Gastrointestinal Agents Phase 4
8 Laxatives Phase 4
9 Olive Phase 4
10 Cathartics Phase 4
11 Soy Bean Phase 4
12 Tocotrienols Phase 4
13 Tocopherols Phase 4
14 Omega 3 Fatty Acid Phase 2, Phase 3
15 Liver Extracts Phase 2, Phase 3
16
Bilirubin Phase 2, Phase 3 69853-43-6, 635-65-4 21252250 5280352
17
Glucagon Approved Phase 1, Phase 2 16941-32-5
18 Hormone Antagonists Phase 1, Phase 2
19 Hormones Phase 1, Phase 2
20 Glucagon-Like Peptide 1 Phase 1, Phase 2
21 Incretins Phase 1, Phase 2
22 Immunoglobulins
23 Antibodies
24 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Incidence and Severity of Parenteral Nutrition Associated Cholestasis in Neonates Subjected to Major Surgery, Using Two Mixed Intravenous Lipid Emulsions Terminated NCT02633384 Phase 4
2 Fish Oil Lipid Emulsion for the Treatment of Parenteral-Nutrition-Associated Liver Disease in Infants Completed NCT02370251 Phase 2, Phase 3 Omegaven
3 Gastroschisis Outcomes of Delivery (GOOD) Study Recruiting NCT02774746 Phase 3
4 Phase 1-2 Trial of Glucagon-like Peptide 2 (GLP-2) in Infants and Children With Intestinal Failure Terminated NCT01573286 Phase 1, Phase 2 Glucagon-Like Peptide 2;Glucagon like peptide-2
5 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries: A Multi-Centre, International, Prospective Cohort Study Completed NCT03666767
6 Comparing Stapled Anastomosis With Hand-sewn in Neonate With Intestinal Atresia Recruiting NCT03754907
7 The Role of Indocyanine Green Angiography Fluorescence on Intestinal Resections in Pediatric Surgery. Recruiting NCT04020939 Indocyanine Green
8 In-Utero Vascular Accidents in Neonates From COVID-19 Infected Mothers Not yet recruiting NCT04431869
9 Prevention of Parenteral Nutrition-Associated Cholestasis With Cyclic Parenteral Nutrition in Infants Terminated NCT01062815
10 Early Delivery in Fetal Gastroschisis: a Randomized Controlled Trial of Elective Early Delivery Versus Routine Obstetrical Care Terminated NCT01884324

Search NIH Clinical Center for Jejunal Atresia

Genetic Tests for Jejunal Atresia

Anatomical Context for Jejunal Atresia

MalaCards organs/tissues related to Jejunal Atresia:

40
Small Intestine, Colon, Liver, Smooth Muscle, Heart, Lung, Pancreas

Publications for Jejunal Atresia

Articles related to Jejunal Atresia:

(show top 50) (show all 292)
# Title Authors PMID Year
1
Apple-peel intestinal atresia associated with balanced reciprocal translocation t(2;3)(q31.3;p24.2) mat. 56 61
10594884 1999
2
Familial jejunal atresia with renal dysplasia. 56 61
8906679 1996
3
Second family with "apple peel" syndrome affecting four siblings: autosomal recessive inheritance confirmed. 56 61
8368241 1993
4
Apple peel syndrome in sibs. 61 56
2918533 1989
5
Familial apple peel jejunal atresia: surgical, genetic, and radiographic aspects. 61 56
3309863 1987
6
Apple peel syndrome (congenital intestinal atresia): a family study of seven index patients. 56 61
5345098 1969
7
Familial jejunal atresia: three cases in one family. 61 56
5681166 1968
8
Increased frequency of cystic fibrosis among infants with jejunoileal atresia. 56
9714011 1998
9
Jejunoileal atresia: a proposed classification. 56
957064 1976
10
Familial and hereditary intestinal atresia. 56
5142939 1971
11
Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review. 61
31953238 2020
12
Prenatal diagnosis of midgut volvulus with jejunal atresia by ultrasonography. 61
32452074 2020
13
Polysplenia syndrome with complex heart disease and jejunal atresia with malrotation in neonate: A case report. 61
32477531 2020
14
Intestinal flow after anastomotic operations in neonates. 61
31610882 2020
15
A Rare Case of Neonatal Extensive Small Intestinal Diverticulosis Associated with Jejunal Atresia. 61
31896905 2020
16
Apple-peel jejunal atresia associated with multiple ileal atresias in a preterm newborn: A rare congenital anomaly. 61
31997513 2020
17
Calcified stone in intestinal blind loop after 60 years of surgical treatment of complex jejunal atresia: an attempt to understand an enigma. 61
31919061 2020
18
An Unusual Case of Hypoproteinemia in Childhood: Keep in Mind Trichobezoar. 61
32195212 2020
19
Impact of Intravenous Omega-3-Enriched Lipid Emulsion on Liver Enzyme and Triglyceride Serum Levels of Children Undergoing Gastrointestinal Surgery. 61
31988880 2020
20
Challenges and Outcome of Management of Gastroschisis at a Tertiary Institution in North-Eastern Nigeria. 61
32195264 2020
21
Gastric Heterotopia: Ileal Thickening in a Patient With Jejunal Atresia Type IIIb. 61
30942105 2019
22
Prenatal Dilated Rectum: Do We Need to Worry? 61
31302327 2019
23
An Atypical Variant of Apple Peel Atresia: Reporting a Rare Case. 61
31819834 2019
24
Prenatal Diagnosis of Jejunal Atresia by 3-D Ultrasonography and MRI. 61
30772321 2019
25
Total Intestinal Atresia: Revisiting the Pathogenesis of Congenital Atresias. 61
31571767 2019
26
Multicystic encephalomalacia and gastrointestinal injury following single fetal death in first trimester and subsequent fetofetal transfusion syndrome in a monochorionic triplet pregnancy: a case report. 61
31455300 2019
27
Duodenal atresia with familial apple peel syndrome: case study with review of literature. 61
31451461 2019
28
Bowel plication in neonatal high jejunal atresia. 61
31083177 2019
29
[Efficacy of the intestinal rehabilitation program in patients with short bowel syndrome]. 61
31056867 2019
30
Neonatal Intestinal Anastomosis Using a 5 mm Laparoscopic Stapler. 61
30767703 2019
31
Isolated Ascites in a Monochorionic Twin after Fetoscopic Laser Ablation Is Not Necessarily Secondary to Recurrence or Anaemia: Bowel Complications in Twin-to-Twin Transfusion Syndrome after Fetoscopic Laser Ablation. 61
30554214 2019
32
Hemorrhage from Umbilical Cord Ulceration Identified on Real-Time Ultrasound in a Fetus with Duodenal Atresia. 61
30906606 2019
33
Non-transplant Surgical Management of Short Bowel Syndrome in Children: An Overview. 61
30499416 2019
34
Situs inversus abdominalis, polysplenia, complex jejunal atresia and malrotation in a neonate: A rare association. 61
30861494 2019
35
Bishop-Koop jejunostomy in an adult following proximal small bowel anastomotic breakdown. 61
30580307 2018
36
The feasibility of routine use of distal stoma refeeding method in newborns with enterostomy. 61
30585079 2018
37
Congenital intestinal atresias with multiple episodes of sepsis: A case report and review of literature. 61
29879038 2018
38
Presentation and outcome of treatment of jejunoileal atresia in Nigeria. 61
31290469 2018
39
Congenital duodenal and multiple jejunal atresia with malrotation in a patient with Down syndrome. 61
28677208 2018
40
Isolated ascites in a newborn with 'apple peel' jejunal atresia. 61
28974507 2017
41
Neonatal Intramural Calcification in Jejunal Atresia: Case Report of a Rare Phenomenon. 61
29308365 2017
42
Jejunal atresia, periodic fevers and psoriatic arthropathy in Baraitser-Winter malformation syndrome. 61
28872563 2017
43
Bile-stained amniotic fluid: a case report. 61
28874174 2017
44
Type I Jejunal Atresia in Identical Twins: A Rare Occurrence. 61
28920028 2017
45
A further family of Stromme syndrome carrying CENPF mutation. 61
28407396 2017
46
[Application of bowel plication combined with early enteral nutrition in the enhanced recovery after surgery for neonates with jejunal atresia]. 61
28534331 2017
47
Jejunal atresia and unilateral postaxial polydactyly: second report of a rare association. 61
28059850 2017
48
Prenatal magnetic resonance and ultrasonographic findings in small-bowel obstruction: imaging clues and postnatal outcomes. 61
28116474 2017
49
[Intestinal complications in twin-to-twin transfusion syndrome (TTTS) treated by laser coagulation (LC)]. 61
28585788 2017
50
Delayed presentation of jejunal atresia. 61
28796978 2017

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 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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