MCID: CNG413
MIFTS: 38

Congenital Short Bowel Syndrome

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

Aliases & Classifications for Congenital Short Bowel Syndrome

MalaCards integrated aliases for Congenital Short Bowel Syndrome:

Name: Congenital Short Bowel Syndrome 57 59 75 37 13
Congenital Short Bowel and Malrotation Syndrome 75 13
Csbs 57 75
Bowel, Short, Syndrome, Congenital 40
Intestinal Pseudo-Obstruction 73
Congenital Short Bowel 76
Csbm 75

Characteristics:

Orphanet epidemiological data:

59
congenital short bowel syndrome
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
high infant mortality due to malnutrition as well as complications of parenteral nutrition


HPO:

32
congenital short bowel syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Short Bowel Syndrome

UniProtKB/Swiss-Prot : 75 Congenital short bowel syndrome: A disease characterized by a shortened small intestine, intestinal malrotation, and malabsorption. The mean length of the small intestine in CSBS patients is approximately 50 cm, compared with a normal length at birth of 190-280 cm. Patients with CSBS may develop severe malnutrition as a result of the hugely reduced absorptive surface of the small intestine. Infants require parenteral nutrition for survival. However, parenteral nutrition itself causes life-threatening complications such as sepsis and liver failure which are associated with a high rate of mortality early in life.

MalaCards based summary : Congenital Short Bowel Syndrome, also known as congenital short bowel and malrotation syndrome, is related to intestinal pseudo-obstruction and short bowel syndrome. An important gene associated with Congenital Short Bowel Syndrome is CLMP (CXADR Like Membrane Protein). The drugs Acetylcysteine and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include small intestine, liver and kidney, and related phenotypes are short stature and intestinal hypoplasia

OMIM : 57 Infants with congenital short bowel syndrome are born with a shortened small intestine, with a mean length of 50 cm compared to the normal length of 190 to 280 cm, and intestinal malrotation. Severe malnutrition develops as a result of the hugely reduced absorptive surface of the small intestine, and infants require parenteral nutrition for survival; however, parenteral nutrition itself causes life-threatening complications such as sepsis and liver failure which are associated with a high rate of mortality early in life (summary by van der Werf et al., 2012). (615237)

Wikipedia : 76 Short bowel syndrome (SBS, or simply short gut) is a malabsorption disorder caused by a lack of... more...

Related Diseases for Congenital Short Bowel Syndrome

Graphical network of the top 20 diseases related to Congenital Short Bowel Syndrome:



Diseases related to Congenital Short Bowel Syndrome

Symptoms & Phenotypes for Congenital Short Bowel Syndrome

Symptoms via clinical synopsis from OMIM:

57
Growth:
failure to thrive

Abdomen Gastrointestinal:
intestinal malrotation
chronic diarrhea
steatorrhea
vomiting (in some patients)
severely shortened small intestine
more

Clinical features from OMIM:

615237

Human phenotypes related to Congenital Short Bowel Syndrome:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
2 intestinal hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005245
3 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543
4 lipoatrophy 59 32 frequent (33%) Frequent (79-30%) HP:0100578
5 displacement of the external urethral meatus 59 32 occasional (7.5%) Occasional (29-5%) HP:0100627
6 hypotrichosis 59 32 frequent (33%) Frequent (79-30%) HP:0001006
7 intestinal malrotation 59 32 frequent (33%) Frequent (79-30%) HP:0002566
8 failure to thrive 32 HP:0001508
9 vomiting 32 occasional (7.5%) HP:0002013
10 chronic diarrhea 32 HP:0002028
11 steatorrhea 32 HP:0002570
12 congenital shortened small intestine 32 HP:0030889
13 decreased intestinal transit time 32 HP:0030897
14 abnormal peristalsis 32 HP:0030914

Drugs & Therapeutics for Congenital Short Bowel Syndrome

Drugs for Congenital Short Bowel Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
2
alemtuzumab Approved, Investigational Phase 2 216503-57-0
3
Busulfan Approved, Investigational Phase 2 55-98-1 2478
4
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
5
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
6
rituximab Approved Phase 2 174722-31-7 10201696
7
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
8
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
9
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
10 Pharmaceutical Solutions Phase 2,Not Applicable
11 Alkylating Agents Phase 2
12 Antilymphocyte Serum Phase 2
13 Antimetabolites Phase 2
14 Antimetabolites, Antineoplastic Phase 2
15 Antineoplastic Agents, Alkylating Phase 2
16 Immunosuppressive Agents Phase 2
17 N-monoacetylcystine Phase 2
18 Thioctic Acid Phase 2
19 Tocopherols Phase 2
20 Tocotrienols Phase 2
21 Vitamins Phase 2
22 Alpha-lipoic Acid Nutraceutical Phase 2
23 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
24 Cola Nutraceutical Phase 1

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 The Effects of Gum Chewing on Bowel Function Recovery Following Cesarean Section Completed NCT01131416 Phase 2, Phase 3
2 Effects of Gum Chewing on Recovery of Bowel Function Following Abdominal Surgery for Endometrial and Ovarian Cancer Withdrawn NCT01389986 Phase 2, Phase 3
3 Daikenchuto for Intestinal Dysmotility and Prevention of Postoperative Paralytic Ielus After Pancreaticoduodenectomy Unknown status NCT01607307 Phase 2 Oral/enteral TJ-100 solution;Oral/enteral placebo solution
4 Efficacy Study of Prucalopride to Treat Chronic Intestinal Pseudo-Obstruction (CIP) Completed NCT00793247 Phase 2 PRU-PLA-PRU-PLA;PLA-PRU-PLA-PRU;PLA-PRU-PRU-PLA;PRU-PLA-PLA-PRU
5 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
6 Acupuncture to Prevent Postoperative Bowel Paralysis (Paralytic Ileus) Terminated NCT00065234 Phase 2
7 Therapeutic Oxygen for Gastrointestinal Atony (TOGA) Recruiting NCT03386136 Phase 1 100% Oxygen
8 Efficacy and Safety of Fecal Microbiota Transplantation for Chronic Intestinal Pseudo-obstruction Completed NCT02731183 Not Applicable
9 Small Bowel Motor Impairment in Scleroderma: Results of a Prospective 5-year Manometric Follow-up Completed NCT00213460
10 Measurement of Body Composition by Air Displacement Plethysmography in Pediatric Intestinal Failure Patients Recruiting NCT02561819
11 Effects of Laser Acupuncture Therapy on Paralytic Ileus Recruiting NCT03041675 Not Applicable
12 Prevention of Parenteral Nutrition-Associated Cholestasis With Cyclic Parenteral Nutrition in Infants Terminated NCT01062815 Not Applicable

Search NIH Clinical Center for Congenital Short Bowel Syndrome

Genetic Tests for Congenital Short Bowel Syndrome

Anatomical Context for Congenital Short Bowel Syndrome

MalaCards organs/tissues related to Congenital Short Bowel Syndrome:

41
Small Intestine, Liver, Kidney, Pancreas

Publications for Congenital Short Bowel Syndrome

Articles related to Congenital Short Bowel Syndrome:

(show all 20)
# Title Authors Year
1
Congenital Short-Bowel Syndrome in an Adult Dog. ( 29310549 )
2018
2
Two new mutations of the CLMP gene identified in a newborn presenting congenital short-bowel syndrome. ( 27720179 )
2016
3
Congenital Short Bowel Syndrome due to Absent Midgut. ( 27150813 )
2016
4
Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder. ( 27352967 )
2016
5
Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation. ( 26282049 )
2015
6
Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations. ( 23037936 )
2013
7
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome. ( 22155368 )
2012
8
Gastric heterotopia with extensive involvement of the small intestine associated with congenital short bowel syndrome and intestinal malrotation. ( 21204668 )
2011
9
Case report: Congenital short bowel syndrome. ( 21042453 )
2010
10
Ectopic drainage of the common bile duct into the lesser curvature of the gastric antrum in a newborn with pyloric atresia, annular pancreas and congenital short bowel syndrome. ( 18818913 )
2009
11
Congenital short bowel syndrome: a case report and review of the literature. ( 18209785 )
2008
12
Long-term outcome of a patient with congenital short bowel syndrome. ( 16707984 )
2006
13
Successful pregnancy following maternal small bowel reconstruction for congenital short bowel syndrome. ( 16398781 )
2006
14
Congenital short bowel syndrome with malrotation. ( 15508878 )
2004
15
Gastrocolocutaneous fistula in a child with congenital short bowel syndrome: a rare complication of percutaneous endoscopic gastrostomy. ( 15175828 )
2004
16
Synovial lipomatosis (lipoma arborescens) affecting multiple joints in a patient with congenital short bowel syndrome. ( 12022328 )
2002
17
Congenital short bowel syndrome associated with appendiceal agenesis and functional intestinal obstruction. ( 9574778 )
1998
18
Congenital short-bowel syndrome: prenatal sonographic findings of a fatal anomaly. ( 9460641 )
1998
19
Congenital short bowel syndrome with left acheiria: report of one case. ( 9401186 )
1997
20
Congenital short bowel syndrome: report of a case treated with home central parenteral nutrition. ( 1358321 )
1992

Variations for Congenital Short Bowel Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Congenital Short Bowel Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 CLMP p.Val124Asp VAR_069713 rs587776967

ClinVar genetic disease variations for Congenital Short Bowel Syndrome:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLMP NM_024769.3(CLMP): c.230delA (p.Glu77Glyfs) deletion Pathogenic rs587776964 GRCh37 Chromosome 11, 122955378: 122955378
2 CLMP NM_024769.3(CLMP): c.230delA (p.Glu77Glyfs) deletion Pathogenic rs587776964 GRCh38 Chromosome 11, 123084670: 123084670
3 CLMP NM_024769.3(CLMP): c.821G> A (p.Arg274Gln) single nucleotide variant Pathogenic rs587776965 GRCh37 Chromosome 11, 122945410: 122945410
4 CLMP NM_024769.3(CLMP): c.821G> A (p.Arg274Gln) single nucleotide variant Pathogenic rs587776965 GRCh38 Chromosome 11, 123074702: 123074702
5 CLMP NM_024769.3(CLMP): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic rs587776966 GRCh37 Chromosome 11, 122953808: 122953808
6 CLMP NM_024769.3(CLMP): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic rs587776966 GRCh38 Chromosome 11, 123083100: 123083100
7 CLMP NM_024769.3(CLMP): c.371T> A (p.Val124Asp) single nucleotide variant Pathogenic rs587776967 GRCh37 Chromosome 11, 122955237: 122955237
8 CLMP NM_024769.3(CLMP): c.371T> A (p.Val124Asp) single nucleotide variant Pathogenic rs587776967 GRCh38 Chromosome 11, 123084529: 123084529
9 CLMP NM_024769.3(CLMP): c.508C> T (p.Arg170Ter) single nucleotide variant Pathogenic rs765907815 GRCh38 Chromosome 11, 123083728: 123083728
10 CLMP NM_024769.3(CLMP): c.508C> T (p.Arg170Ter) single nucleotide variant Pathogenic rs765907815 GRCh37 Chromosome 11, 122954436: 122954436
11 CLMP NM_024769.3(CLMP): c.410G> A (p.Cys137Tyr) single nucleotide variant no interpretation for the single variant rs879253854 GRCh37 Chromosome 11, 122954534: 122954534
12 CLMP NM_024769.3(CLMP): c.410G> A (p.Cys137Tyr) single nucleotide variant no interpretation for the single variant rs879253854 GRCh38 Chromosome 11, 123083826: 123083826
13 CLMP NM_024769.3(CLMP): c.29-2A> G single nucleotide variant no interpretation for the single variant rs879253855 GRCh37 Chromosome 11, 122968662: 122968662
14 CLMP NM_024769.3(CLMP): c.29-2A> G single nucleotide variant no interpretation for the single variant rs879253855 GRCh38 Chromosome 11, 123097954: 123097954

Expression for Congenital Short Bowel Syndrome

Search GEO for disease gene expression data for Congenital Short Bowel Syndrome.

Pathways for Congenital Short Bowel Syndrome

GO Terms for Congenital Short Bowel Syndrome

Sources for Congenital Short Bowel Syndrome

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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