ORPHA:527468
Diaphragmatic hernia-short bowel-asplenia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Diaphragmatic hernia-short bowel-asplenia syndrome | |
| fr | Syndrome de hernie diaphragmatique-grêle court-asplénie | Syndrome de hernie diaphragmatique-intestin court-asplénie |
| de | Zwerchfellhernie-Kurzdarm-Asplenie-Syndrom | |
| es | Síndrome de hernia diafragmática-intestino corto-asplenia | |
| it | Sindrome ernia diaframmatica - intestino corto - asplenia | |
| nl | Hernia diaphragmatica - korte darm - asplenie-syndroom | |
| pt | Síndrome de hérnia diafragmática-intestino curto-asplenia | |
| pl | Zespół przepukliny przeponowej-krótkiego jelita-braku śledziony | |
| cs | Syndrom zahrnující brániční kýlu, krátké střevo a asplenii | |
| uk | Синдром діафрагмальної грижи-аспленії короткої кишки | |
| zh | 横膈疝-短肠-无脾症候群 | |
| tr | Diyafram fıtığı-kısa bağırsak-aspleni sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0035105 | E | validated | |
| UMLS | C5681454 | 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 (6):
- ORPHA:471383Genetic lethal multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases - ORPHA:459787Lethal multiple congenital anomalies/dysmorphic syndrome
rare developmental anomalies during embryogenesis - ORPHA:108979Syndromic diaphragmatic or abdominal wall malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases - ORPHA:180779Syndromic diaphragmatic or thoracic malformation
rare surgical thoracic diseases - ORPHA:108969Syndromic intestinal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:108973Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HLX | Disease-causing germline mutation(s) in | Assessed | HGNC:4978 | ENSG00000136630 | 142995 | 1q41 | H2.0 like homeobox | 28898547[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 28898547[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28898547[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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/527468
- This record as JSON: /data/d/527468.json