ORPHA:2575
Cystic fibrosis-gastritis-megaloblastic anemia syndrome
historical
Synonyms: Lubani-Al Saleh-Teebi syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- historical
A rare genetic disease characterized by cystic fibrosis, gastritis associated with <i>Helicobacter pylori</i>, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cystic fibrosis-gastritis-megaloblastic anemia syndrome | Lubani-Al Saleh-Teebi syndrome |
| fr | Syndrome de mucoviscidose-gastrite-anémie mégaloblastique | Syndrome de Lubani-Al Saleh-Teebi |
| de | Zystische Fibrose mit Gastritris und Megaloblastenanämie | Lubani-al Saleh-Teebi-Syndrom |
| es | Síndrome de mucoviscidosis-gastritis-anemia megaloblástica | Síndrome de Lubani-Al Saleh-Teebi |
| it | Sindrome fibrosi cistica - gastrite - anemia megaloblastica | Sindrome di Lubani-Al Saleh-Teebi |
| nl | Cystische fibrose - gastritis - megaloblastische anemie-syndroom | Syndroom van Lubani-Al Saleh-Teebi |
| pt | Síndrome fibrose quística-gastrite-anemia megaloblástica | Síndrome Lubani-Al Saleh-Teebi |
| pl | Mukowiscydoza - zapalenie żołądka - niedokrwistość megaloblastyczna | Zespół Lubani, Al Saleh i Teebi |
| cs | Syndrom zahrnující cystickou fibrózu, gastritidu a megaloblastickou anémii | Lubaniho-Al Salehův-Teebiho syndrom · Lubani-Al Saleh-Teebiho syndrom |
| uk | Синдром кістозного фіброзу-гастриту-мегалобластної анемії | Синдром Любані-аль-Салех-Тібі |
| zh | 囊性纤维化-胃炎-巨幼细胞贫血综合征 | Lubani-Al Saleh-Teebi 综合征 |
| tr | Kistik fibrozis-gastrit-megaloblastik anemi sendromu | Lubani-Al Saleh-Teebi sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 219721 | E | validated | |
| ICD-10 | E84.8 | NTBT | attributed | validated |
| ICD-11 | CA25.1 | NTBT | attributed | validated |
| MONDO | 0009062 | E | validated | |
| MeSH | C537039 | E | validated | |
| UMLS | C2931402 | E | validated | |
| GARD | 3303 | 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:165658Genetic gastro-esophageal disease
rare genetic diseases - ORPHA:101936Rare gastroesophageal disease
rare gastroenterological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 2029916[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2029916[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.
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HPO phenotypes
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001877 | Abnormal erythrocyte morphology | |
| HP:0000490 | Deeply set eye | |
| HP:0002014 | Diarrhea | |
| HP:0004826 | Folate-unresponsive megaloblastic anemia | |
| HP:0002007 | Frontal bossing | |
| HP:0005263 | Gastritis | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0000400 | Macrotia | |
| HP:0001889 | Megaloblastic anemia | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000506 | Telecanthus | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0000807 | Glandular hypospadias | |
| HP:0000047 | Hypospadias | |
| HP:0000347 | Micrognathia | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0000049 | Shawl scrotum | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2575
- This record as JSON: /data/d/2575.json