ORPHA:35122
Congenital sucrase-isomaltase deficiency
Synonyms: CSID · Congenital sucrose intolerance · Disaccharide intolerance
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare, genetic, congenital carbohydrate intolerance disorder characterized by lack of endogenous sucrase activity, marked reduction in isomaltase activity, and moderate decrease in maltase activity, and clinically manifesting with diarrhea, abdominal pain and bloating, failure to thrive.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital sucrase-isomaltase deficiency | CSID · Congenital sucrose intolerance · Disaccharide intolerance |
| fr | Déficit congénital en saccharase-isomaltase | CSID · DSIC · Intolérance aux disaccharides · Intolérance congénitale au saccharose |
| de | Saccharase-Isomaltase-Mangel, kongenitaler | CSID · Disaccharid-Intoleranz · Kongenitale Saccharase-Isomaltase-Defizienz · Saccharoseintoleranz, kongenitale |
| es | Deficiencia congénita de sacarasa-isomaltasa | CSID · Intolerancia a los disacáridos · Intolerancia congénita a la sacarosa |
| it | Deficit congenito di sucrasi-isomaltasi | CSID · Intolleranza ai disaccaridi · Intollerenza congenita al sucrosio · Malassorbimento congenito di sucrasi-isomaltasi |
| nl | Congenitale deficiëntie van sucrase-isomaltase | CSID · Congenitale sucrose-intolerantie · Disacharide-intolerantie |
| pt | Intolerância aos dissacarídeos | Deficiência de sacarase e isomaltase |
| pl | Wrodzony Niedobór sacharazy-izomaltazy | CSID · Niedolerancja disacharydów · Wrodzona nietolerancja sacharozy · Wrodzone złe wchłanianie sacharazy-izomaltazy |
| cs | Vrozený deficit sacharázy-izomaltázy | CSID · Vrozená malabsorpce sacharózy-izomaltózy · Vrozená intolerance sacharózy · Intolerance disacharidů |
| uk | Вроджена недостатність сахарази-ізомальтази | Вроджена непереносимість сахарози · CSID · Непереносимість дисахаридів |
| zh | 先天性蔗糖酶异麦芽糖酶缺乏 | 先天蔗糖-异麦芽糖吸收不良 |
| tr | Doğumsal sükraz-izomaltaz eksikliği | CSID · Disakkarit intoleransı · Doğumsal sükroz intoleransı · Doğumsal sükraz-izomaltoz malabsorpsiyonu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 222900 | E | validated | |
| ICD-10 | E74.3 | NTBT | inclusion | validated |
| ICD-11 | 5C61.2 | E | specific | validated |
| MONDO | 0009114 | E | validated | |
| MeSH | C538139 | E | validated | |
| UMLS | C1283620 | E | validated | |
| GARD | 7710 | E | validated | |
| MedDRA | 10066387 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:104006Congenital intestinal disease due to an enzymatic defect
rare gastroenterological diseases; rare genetic diseases - ORPHA:309001Disorder of carbohydrate absorption and transport
rare inborn errors of metabolism; rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:306436OBSOLETE: Congenital sucrase-isomaltase deficiency with starch intolerance referred to · inactive
- ORPHA:306446OBSOLETE: Congenital sucrase-isomaltase deficiency with minimal starch tolerance referred to · inactive
- ORPHA:306462OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance referred to · inactive
- ORPHA:306474OBSOLETE: Congenital sucrase-isomaltase deficiency with starch and lactose intolerance referred to · inactive
- ORPHA:306486OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SI | Disease-causing germline mutation(s) in | Assessed | HGNC:10856 | ENSG00000090402 | 609845 | 3q26.1 | sucrase-isomaltase |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 20 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
14 annotations · validated 2023-08-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002014 | Diarrhea | |
| Frequent (79-30%) | ||
| HP:0002019 | Constipation | |
| HP:0033589 | Flatulence | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002018 | Nausea | |
| HP:0004396 | Poor appetite | |
| HP:0002013 | Vomiting | |
| Occasional (29-5%) | ||
| HP:0011848 | Abdominal colic | |
| HP:0003270 | Abdominal distention | |
| HP:0025085 | Bloody diarrhea | |
| HP:0002607 | Bowel incontinence | |
| HP:0012378 | Fatigue | |
| Very rare (<4-1%) | ||
| HP:0001508 | Failure to thrive | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 26163121[PMID]_23103650[PMID]_33772704[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35122
- This record as JSON: /data/d/35122.json