Congenital enterocyte heparan sulfate deficiency
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, severe, genetic, intestinal disease characterized by congenital absence of heparan sulfate from small intestine epithelium manifesting with secretory diarrhea and massive enteric protein loss. Patients present intolerance to enteral feeds during the first few weeks to months of life. Apart from absence of heparan sulfate from the basolateral surface of small intestine enterocytes, small bowel biopsy is otherwise normal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital enterocyte heparan sulfate deficiency | |
| fr | Déficit congénital en héparane sulfate de l'entérocyte | |
| de | Enterozyten-Heparansulfat-Mangel, kongenitaler | |
| es | Deficiencia congénita de heparán-sulfato en los enterocitos | |
| it | Deficit congenito di eparansolfato negli enterociti | |
| nl | Congenitale enterocyt-heparansulfaatdeficiëntie | |
| pt | Deficiência de sulfato de heparano do enterócito congénita | |
| pl | Wrodzony Niedobór siarczanu heparanu enterocytów | |
| cs | Vrozený deficit heparan sulfátu v enterocytu | |
| uk | Вроджений дефіцит гепарансульфату ентероцитів | |
| zh | 先天性肠细胞硫酸乙酰肝素缺乏症 | |
| tr | Doğumsal enterosit heparan sülfat eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | P78.3 | NTBT | attributed | validated |
| ICD-11 | DA90.Y | NTBT | index | validated |
| MONDO | 0015171 | E | validated | |
| UMLS | C4511238 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:104007Congenital enteropathy involving intestinal mucosa development
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 8622507[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8622507[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
10 annotations · validated 2017-08-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011012 | Abnormality of polysaccharide metabolism | |
| HP:0002014 | Diarrhea | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0002243 | Protein-losing enteropathy | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0010876 | Abnormal circulating protein level | |
| HP:0001944 | Dehydration | |
| HP:0000969 | Edema | |
| HP:0002573 | Hematochezia | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 8622507[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/103910
- This record as JSON: /data/d/103910.json