CSBS
MCID: CNG413
MIFTS: 41

Congenital Short Bowel Syndrome (CSBS)

Categories: Fetal diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic 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 74 37
Congenital Short Bowel and Malrotation Syndrome 74 13
Csbs 57 74
Bowel, Short, Syndrome, Congenital 40
Intestinal Pseudo-Obstruction 72
Congenital Short Bowel 75
Csbm 74

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:



External Ids:

OMIM 57 615237
KEGG 37 H01477
MeSH 44 D012778
ICD10 via Orphanet 34 Q43.8
Orphanet 59 ORPHA2301
UMLS 72 C0021847

Summaries for Congenital Short Bowel Syndrome

UniProtKB/Swiss-Prot : 74 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 Calcium polycarbophil and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include small intestine, liver and kidney, and related phenotypes are intestinal hypoplasia and short stature

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)

KEGG : 37
Congenital short bowel syndrome (CSBS) is an inherited intestinal disorder occurring in newborns and infants. Affected babies typically present a shortened bowel (approximately 50 cm) compared with normal lenth rages from 190 to 280 cm. CSBS causes malabsorption and the most common symptoms including chronic diarrhea, vomiting and weight loss, thus leading to failure to thrive. Gene mutation in coxsakie and adenovirus receptor-like membrane protein (CLMP) has been reported to be associated with this disease.

Wikipedia : 75 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

Diseases in the Short Bowel Syndrome family:

Congenital Short Bowel Syndrome Primary Short Bowel Syndrome
Secondary Short Bowel Syndrome

Diseases related to Congenital Short Bowel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 intestinal pseudo-obstruction 31.3 FLNA CLMP
2 short bowel syndrome 29.8 FLNA CLMP
3 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 12.3
4 cockayne syndrome b 11.8
5 cockayne syndrome 11.8
6 uv-sensitive syndrome 11.5
7 craniosynostosis 2 11.5
8 cockayne syndrome type i 11.2
9 cockayne syndrome type ii 11.2
10 cockayne syndrome type iii 11.2
11 xeroderma pigmentosum, variant type 10.5
12 premature aging 10.5
13 cockayne syndrome a 10.4
14 sensorineural hearing loss 10.2
15 cataract 10.2
16 microcephaly 10.2
17 hutchinson-gilford progeria syndrome 10.2
18 cerebrooculofacioskeletal syndrome 1 10.2
19 de sanctis-cacchione syndrome 10.2
20 cerebrooculofacioskeletal syndrome 2 10.2
21 cerebrooculofacioskeletal syndrome 4 10.2
22 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
23 helix syndrome 10.2
24 cerebro-oculo-facio-skeletal syndrome 10.2
25 diarrhea 10.1
26 ovarian cancer 10.0
27 3-methylglutaconic aciduria, type iii 10.0
28 xeroderma pigmentosum, complementation group c 10.0
29 aging 10.0
30 dysphasia, familial developmental 10.0
31 uv-sensitive syndrome 1 10.0
32 xeroderma pigmentosum, complementation group b 10.0
33 alkuraya-kucinskas syndrome 10.0
34 autism spectrum disorder 10.0
35 specific language impairment 10.0
36 allergic hypersensitivity disease 10.0
37 dermatomycosis 10.0
38 skin carcinoma 10.0
39 liver disease 10.0
40 dentinogenesis imperfecta type 2 10.0
41 dwarfism 10.0
42 hypertonia 10.0
43 hypotonia 10.0
44 congenital amyoplasia 10.0
45 intestinal volvulus 10.0
46 hair whorl 9.8
47 lipomatosis, multiple 9.8
48 meckel diverticulum 9.8
49 pancreas, annular 9.8
50 enterocolitis 9.8

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

Human phenotypes related to Congenital Short Bowel Syndrome:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intestinal hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0005245
2 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
3 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543
4 lipoatrophy 59 32 frequent (33%) Frequent (79-30%) HP:0100578
5 hypotrichosis 59 32 frequent (33%) Frequent (79-30%) HP:0001006
6 intestinal malrotation 59 32 frequent (33%) Frequent (79-30%) HP:0002566
7 vomiting 32 occasional (7.5%) HP:0002013
8 displacement of the urethral meatus 32 occasional (7.5%) HP:0100627
9 failure to thrive 32 HP:0001508
10 chronic diarrhea 32 HP:0002028
11 displacement of the external urethral meatus 59 Occasional (29-5%)
12 steatorrhea 32 HP:0002570
13 congenital shortened small intestine 32 HP:0030889
14 decreased intestinal transit time 32 HP:0030897
15 abnormal peristalsis 32 HP:0030914

Symptoms via clinical synopsis from OMIM:

57
Growth:
failure to thrive

Abdomen Gastrointestinal:
intestinal malrotation
chronic diarrhea
steatorrhea
decreased intestinal transit time
abnormal peristalsis
more

Clinical features from OMIM:

615237

MGI Mouse Phenotypes related to Congenital Short Bowel Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 8.62 CLMP FLNA

Drugs & Therapeutics for Congenital Short Bowel Syndrome

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

(show all 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium polycarbophil Approved Phase 4 126040-58-2
2 Gastrointestinal Agents Phase 4
3 Psyllium Phase 4
4 Cathartics Phase 4
5 Laxatives Phase 4
6
Prucalopride Approved Phase 2 179474-81-8
7
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
8
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
9
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
10
alemtuzumab Approved, Investigational Phase 2 216503-57-0
11
rituximab Approved Phase 2 174722-31-7 10201696
12
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
13
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
14
Busulfan Approved, Investigational Phase 2 55-98-1 2478
15
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
16 Tocotrienol Investigational Phase 2 6829-55-6
17 Pharmaceutical Solutions Phase 2
18 Alkylating Agents Phase 2
19 Tocotrienols Phase 2
20 Alpha-lipoic Acid Phase 2
21 Antilymphocyte Serum Phase 2
22 Tocopherols Phase 2
23 N-monoacetylcystine Phase 2
24 Immunosuppressive Agents Phase 2
25 Vitamins Phase 2
26 Thioctic Acid Phase 2
27 Antimetabolites Phase 2
28 Immunologic Factors Phase 2
29 Antimetabolites, Antineoplastic Phase 2
30 Antineoplastic Agents, Alkylating Phase 2
31
Metronidazole Approved 443-48-1 4173
32
Loperamide Approved 53179-11-6 3955
33
Linaclotide Approved 851199-59-2 65351
34
Calcium Approved, Nutraceutical 7440-70-2 271
35 Nutrients
36 Plantain
37 Calcium, Dietary
38 Antidiarrheals

Interventional clinical trials:

(show all 30)
# Name Status NCT ID Phase Drugs
1 Investigation of Dried Plums in the Treatment of Adults With Constipation Completed NCT01180725 Phase 4
2 The Effects of Gum Chewing on Bowel Function Recovery Following Cesarean Section: Randomized Controlled Trial Completed NCT01131416 Phase 2, Phase 3
3 A Phase 3, Randomized, Double-blind, Placebo-controlled, Parallel-group Trial of Linaclotide Administered Orally for 12 Weeks Followed by a 4-Week Randomized Withdrawal Period in Patients With Chronic Constipation Completed NCT00730015 Phase 3 Matching Placebo;Linaclotide
4 A Phase III, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Trial of Linaclotide Administered Orally for 12 Weeks in Patients With Chronic Constipation Completed NCT00765882 Phase 3 Linaclotide 290 micrograms;Linaclotide 145 micrograms;Placebo
5 A Phase 3, Randomized, Double-blind, Placebo-controlled, Parallel-group Trial of Linaclotide (72 ug or 145 ug) Administered Orally for 12 Weeks to Patients With Chronic Idiopathic Constipation Completed NCT02291679 Phase 3 Linaclotide;Matching Placebo
6 Effects of Gum Chewing on Recovery of Bowel Function Following Abdominal Surgery for Endometrial and Ovarian Cancer: a Randomized Controlled Trial Withdrawn NCT01389986 Phase 2, Phase 3
7 Effect of Daikenchuto (TJ-100) on Intestinal Dysmotility and For the Prevention of Postoperative Paralytic Ileus in Patients Undergoing Pancreaticoduodenectomy: A Multicenter, Randomized, Placebo-Controlled Phase II Trial Unknown status NCT01607307 Phase 2 Oral/enteral TJ-100 solution;Oral/enteral placebo solution
8 A Double-Blind, Placebo-Controlled, Cross-Over, Multiple (n=1) Trial to Evaluate the Effects of R093877 in Patients With 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
9 A Multicenter, Double-Blind, Randomized, Placebo-Controlled, 12-Week, Dose-Range-Finding Trial of YKP10811 Capsules Administered Once Daily to Subjects With Chronic Idiopathic Constipation Completed NCT01989234 Phase 2 YKP10811;Placebo
10 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG 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)
11 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Multiple Dose Study to Evaluate Safety, Tolerability and Efficacy of Orally Administered ENT-01 for the Treatment of Parkinson's Disease-Related Constipation (KARMET) Active, not recruiting NCT03781791 Phase 2 Active Investigational Treatment ENT-01;Placebo Treatment
12 Acupuncture to Prevent Postoperative Paralytic Ileus Terminated NCT00065234 Phase 2
13 Post-Hoc Analysis of Dynamic Magnetic Resonance Sequences to Establish Descriptive Metrics for Small Bowel Motility in Vivo Unknown status NCT02754869
14 Effects of Laser Acupuncture Therapy on Paralytic Ileus Unknown status NCT03041675
15 Detection of ASD at the 1st Birthday as Standard of Care: The Get SET Early Model Unknown status NCT02463422
16 Electrophysiologic Indicators of Gating and Timing Abnormalities in Autism Unknown status NCT00319722
17 Efficacy and Safety of Fecal Microbiota Transplantation in Treatment of Chronic Intestinal Pseudo-obstruction: a Preliminary Study Completed NCT02731183
18 Small Bowel Motor Impairment in Scleroderma: Results of a Prospective 5-year Manometric Follow-up Completed NCT00213460
19 The Effect of Postoperative Chewing Gum on Intestinal Functions After Gynecological Laparoscopic Surgery Completed NCT03884244
20 Phase II Feasibility Study of the Efficacy and Acceptability of a Low Residue Diet in Adult Patients With Mitochondrial Disease Completed NCT03388528
21 Can Metagenomic and Metadata be Combined Using Bioinformatics and Computational Biology Methods to Personalise Patient Treatment. Completed NCT03213067
22 SmartPill Monitoring for Assessment of GI Function in SCI Completed NCT00856648
23 The Effect of Zespri Green Kiwifruit on Digestive and Gut Health Functions: a Multi-country, Randomized, Cross-over Clinical Intervention Completed NCT02888392
24 Building Social Skills in Children With ASD Characteristics Through Process Drama Completed NCT02850666
25 Investigation of Supra Fiber in the Treatment of Adults With Constipation-A Double-blind Randomized Controlled Trial Completed NCT01288508
26 Measurement of Body Composition by Air Displacement Plethysmography in Pediatric Intestinal Failure Patients Recruiting NCT02561819
27 Randomized Controlled Trial of Rib Raising as Early Treatment for Post-operative Ileus Recruiting NCT03662672
28 Assessment of Responsiveness to Treatment of the Experience Sampling Method (ESM) in Irritable Bowel Syndrome (IBS) Using Linaclotide Recruiting NCT03336034
29 Effects of a Short-term Parent Mediated Social Training on Developmental Trajectories in Infants Recruiting NCT03404505
30 Randomized Controlled Trial of Biofeedback Therapy for Dyssynergic Defecation Terminated NCT00257842

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, Brain, Testes, Breast, Pancreas

Publications for Congenital Short Bowel Syndrome

Articles related to Congenital Short Bowel Syndrome:

(show top 50) (show all 171)
# Title Authors PMID Year
1
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome. 38 8 71
22155368 2012
2
Congenital short bowel syndrome: a case report and review of the literature. 38 8 71
18209785 2008
3
Long-term outcome of a patient with congenital short bowel syndrome. 38 8 71
16707984 2006
4
Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. 71
17357080 2007
5
Congenital short-bowel; a case study and review of the literature. 8
10532268 1999
6
The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28. 71
8644737 1996
7
Long-term survival of a patient with congenital short bowel and malrotation. 8
2005514 1991
8
Short small intestine associated with malrotation: a newly described congenital cause of intestinal malabsorption. 8
5765427 1969
9
Cytocompatibility, bioactivity potential, and ion release of three premixed calcium silicate-based sealers. 38
31399829 2019
10
Clinical cure rate and cost-effectiveness of carbapenem sparing beta-lactams versus meropenem for Gram-negative infections: a systematic review, meta-analysis, and cost-effectiveness analysis. 38
31284041 2019
11
The First Complete Mitochondrial Genome of the Flathead Cociella crocodilus (Scorpaeniformes: Platycephalidae) and the Phylogenetic Relationships within Scorpaeniformes Based on Whole Mitogenomes. 38
31311107 2019
12
First Report of Congenital Short Bowel Syndrome in an Iranian Patient Caused by a Mutation in the CLMP Gene. 38
31061750 2019
13
Soy Protein Is an Efficacious Alternative to Whey Protein in Fortified Blended Foods in Rats (P10-061-19). 38
31224330 2019
14
Validating and Applying the CSBS-ITC in Neurogenetic Syndromes. 38
31026205 2019
15
A review on applications of chitosan-based Schiff bases. 38
30753877 2019
16
CSBFinder: discovery of colinear syntenic blocks across thousands of prokaryotic genomes. 38
30321308 2019
17
Diverse synaptic and dendritic mechanisms of complex spike burst generation in hippocampal CA3 pyramidal cells. 38
31015414 2019
18
Complex sexual behaviors during sleep as a manifestation of epilepsy: a case series. 38
30476248 2019
19
Identification of Key Aroma Compounds in Type I Sourdough-Based Chinese Steamed Bread: Application of Untargeted Metabolomics Analysisp. 38
30769815 2019
20
Complete mitochondrial genome of the Western Capercaillie Tetrao urogallus (Phasianidae, Tetraoninae). 38
30790836 2019
21
The complete mitochondrial genome of Budorcas taxicolor tibetana (Artiodactyla: Bovidae) and comparison with other Caprinae species: Insight into the phylogeny of the genus Budorcas. 38
30296464 2019
22
A Cross-sectional Study of Cancer Knowledge and Beliefs Among Faith-based Chinese in the USA Versus Taiwan. 38
30742762 2019
23
The Preliminary Development and Validation of a Trauma-Related Safety-Seeking Behavior Measure for Youth: The Child Safety Behavior Scale (CSBS). 38
30338580 2018
24
Walking Ability is Associated with Social Communication Skills in Infants at High Risk for Autism Spectrum Disorder. 38
30271278 2018
25
Mutational analysis of a Drosophila neuroblast enhancer governing nubbin expression during CNS development. 38
30005136 2018
26
Exploration of mtDNA control region sequences in Chinese Tibetan Mastiffs. 38
28756720 2018
27
Shared latrines in Maputo, Mozambique: exploring emotional well-being and psychosocial stress. 38
30045729 2018
28
"Pornographic binges" as a key characteristic of males seeking treatment for compulsive sexual behaviors: Qualitative and quantitative 10-week-long diary assessment. 38
29865868 2018
29
Promoting educational, classification, treatment, and policy initiatives. 38
29895182 2018
30
Congenital Short-Bowel Syndrome in an Adult Dog. 38
29310549 2018
31
Hemiptera Mitochondrial Control Region: New Sights into the Structural Organization, Phylogenetic Utility, and Roles of Tandem Repetitions of the Noncoding Segment. 38
29701634 2018
32
The complete mitochondrial genome of the alvinocaridid shrimp Shinkaicaris leurokolos (Decapoda, Caridea): Insight into the mitochondrial genetic basis of deep-sea hydrothermal vent adaptation in the shrimp. 38
29145028 2018
33
Locating People Diagnosed With HIV for Public Health Action: Utility of HIV Case Surveillance and Other Data Sources. 38
29486143 2018
34
Structure and cis-regulatory analysis of a Drosophila grainyhead neuroblast enhancer. 38
29417712 2018
35
Predominant yeasts in Chinese traditional sourdough and their influence on aroma formation in Chinese steamed bread. 38
29037707 2018
36
Nature of the Three-Electron Bond. 38
29338261 2018
37
Complete Mitochondrial Genome of Suwallia teleckojensis (Plecoptera: Chloroperlidae) and Implications for the Higher Phylogeny of Stoneflies. 38
29495588 2018
38
The IgCAM CLMP regulates expression of Connexin43 and Connexin45 in intestinal and ureteral smooth muscle contraction in mice. 38
29361518 2018
39
Impact of food supplements on hemoglobin, iron status, and inflammation in children with moderate acute malnutrition: a 2 × 2 × 3 factorial randomized trial in Burkina Faso. 38
29529160 2018
40
Intraspecific variations in Cyt b and D-loop sequences of Testudine species, Lissemys punctata from south Karnataka. 38
30046490 2018
41
Mitochondrial genome of the garfish Hyporhamphus quoyi (Beloniformes: Hemiramphidae) and phylogenetic relationships within Beloniformes based on whole mitogenomes. 38
30439949 2018
42
Depression, anxiety, and compulsive sexual behaviour among men in residential treatment for substance use disorders: The role of experiential avoidance. 38
28401660 2017
43
First Mitochondrial Genome from Nemouridae (Plecoptera) Reveals Novel Features of the Elongated Control Region and Phylogenetic Implications. 38
28475163 2017
44
Observed and Parent-Report Measures of Social Communication in Toddlers With and Without Autism Spectrum Disorder Across Race/Ethnicity. 38
28395297 2017
45
A possible role of the Infant/Toddler Sensory Profile in screening for autism: a proof-of-concept study in the specific sample of prematurely born children with birth weights <1,500 g. 38
28182143 2017
46
Two new mutations of the CLMP gene identified in a newborn presenting congenital short-bowel syndrome. 38
27720179 2016
47
Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder. 38
27352967 2016
48
Novel duplication pattern of the mitochondrial control region in Cantor's Giant softshell turtle Pelochelys cantorii. 38
27565702 2016
49
Relationship between brain lesion characteristics and communication in preschool children with cerebral palsy. 38
27591975 2016
50
Congenital Short Bowel Syndrome due to Absent Midgut. 38
27150813 2016

Variations for Congenital Short Bowel Syndrome

ClinVar genetic disease variations for Congenital Short Bowel Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CLMP NM_024769.4(CLMP): c.230del (p.Glu77fs) deletion Pathogenic rs587776964 11:122955378-122955378 11:123084670-123084670
2 CLMP NM_024769.4(CLMP): c.821G> A (p.Arg274Gln) single nucleotide variant Pathogenic rs587776965 11:122945410-122945410 11:123074702-123074702
3 CLMP NM_024769.4(CLMP): c.664C> T (p.Arg222Ter) single nucleotide variant Pathogenic rs587776966 11:122953808-122953808 11:123083100-123083100
4 CLMP NM_024769.4(CLMP): c.371T> A (p.Val124Asp) single nucleotide variant Pathogenic rs587776967 11:122955237-122955237 11:123084529-123084529
5 CLMP NM_024769.4(CLMP): c.508C> T (p.Arg170Ter) single nucleotide variant Pathogenic rs765907815 11:122954436-122954436 11:123083728-123083728

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

74
# Symbol AA change Variation ID SNP ID
1 CLMP p.Val124Asp VAR_069713 rs587776967

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

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