ORPHA:2255
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Synonyms: PACHD · Pancreatic agenesis and congenital heart defects syndrome · Yorifuji-Okuno syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | PACHD · Pancreatic agenesis and congenital heart defects syndrome · Yorifuji-Okuno syndrome |
| fr | Syndrome d'hypoplasie pancréatique-diabète-cardiopathie congénitale | Syndrome de Yorifuji-Okuno |
| de | Pankreashypoplasie-Diabetes-kongenitaler Herzfehler-Syndrom | Syndrom der Pankreas-Hypoplasie mit Diabetes mellitus und angeborenem Herzfehler · Yorifuji-Okuno-Syndrom |
| es | Síndrome de hipoplasia pancreática-diabetes-cardiopatía congénita | Síndrome de Yorifuji-Okuno |
| it | Ipoplasia pancreatica - diabete - cardiopatia congenita | Sindrome di Yorifuji-Okuno |
| nl | Hypoplasie van pancreas - diabetes - congenitale hartziekte-syndroom | Syndroom van Yorifuji-Okuno |
| pt | Síndrome de hipoplasia pancreática-diabetes-cardiopatia congénita | Síndrome Yorifuji-Okuno |
| pl | Hipoplazja trzustki - cukrzyca - wrodzona choroba serca | Zespół Yorifuji i Okuno syndrome |
| cs | Syndrom zahrnující hypoplázii pankreatu, diabetes a vrozenou vadu srdce | Yorifujiho-Okunoův syndrom · Yorifuji-Okunoův syndrom |
| uk | Синдром гіпоплазії підшлункової залози-діабету-вроджених вад серця | PACHD · Синдром панкреатичної агенезії та вроджених вад серця · Синдром Йоріфуджі-Окуно |
| zh | 胰腺发育不全-糖尿病-先天性心脏病综合征 | Yorifuji-Okuno综合征 |
| tr | Pankreas hipoplazisi-diyabet-doğumsal kalp hastalığı sendromu | Yorifuji-Okuno sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600001 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | KB60.2Y | NTBT | attributed | validated |
| MONDO | 0010802 | E | validated | |
| MeSH | C536714 | E | validated | |
| UMLS | C2931296 | E | validated | |
| GARD | 347 | 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 (3):
- ORPHA:181381Other rare diabetes mellitus
rare endocrine diseases - ORPHA:183625Rare genetic diabetes mellitus
rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GATA6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4174 | ENSG00000141448 | 601656 | 18q11.2 | GATA binding protein 6 | 22158542[PMID]_22962692[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
40 annotations · validated 2017-01-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0001738 | Exocrine pancreatic insufficiency | |
| HP:0000857 | Neonatal insulin-dependent diabetes mellitus | |
| HP:0001655 | Patent foramen ovale | |
| HP:0001629 | Ventricular septal defect | |
| Frequent (79-30%) | ||
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0100790 | Hernia | |
| HP:0001249 | Intellectual disability | |
| HP:0002254 | Intermittent diarrhea | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0100801 | Pancreatic aplasia | |
| HP:0002594 | Pancreatic hypoplasia | |
| HP:0001518 | Small for gestational age | |
| Occasional (29-5%) | ||
| HP:0000851 | Congenital hypothyroidism | |
| HP:0011581 | Double outlet left ventricle | |
| HP:0004762 | Hypoplasia of right ventricle | |
| HP:0011573 | Hypoplastic tricuspid valve | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0001562 | Oligohydramnios | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0003645 | Prolonged partial thromboplastin time | |
| HP:0004415 | Pulmonary artery stenosis | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0002098 | Respiratory distress | |
| HP:0001250 | Seizure | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0001669 | Transposition of the great arteries | |
| Very rare (<4-1%) | ||
| HP:0010626 | Anterior pituitary agenesis | |
| HP:0011466 | Aplasia/Hypoplasia of the gallbladder | |
| HP:0005912 | Biliary atresia | |
| HP:0000891 | Cervical ribs | |
| HP:0011628 | Congenital defect of the pericardium | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0011611 | Interrupted aortic arch | |
| HP:0002566 | Intestinal malrotation | |
| HP:0040196 | Mild microcephaly | |
| HP:0001195 | Single umbilical artery | |
| HP:0001537 | Umbilical hernia | |
| HP:0000073 | Ureteral duplication | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 20082465[PMID]_23639568[PMID]_24310933[PMID]_22962692[PMID]_8071961[PMID]_22158542[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2255
- This record as JSON: /data/d/2255.json