Pancreatic agenesis-holoprosencephaly syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of pancreatic agenesis and lobar/semilobar holoprosencephaly. Insulin-dependent diabetes mellitus and pancreatic exocrine deficiency manifest early after birth. Additional reported manifestations include intrauterine growth retardation, muscle weakness, seizures, mild intellectual disability and dysmorphic craniofacial features, and agenesis of the gallbladder.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pancreatic agenesis-holoprosencephaly syndrome | |
| fr | Syndrome d'agénésie du pancréas-holoprosencéphalie | |
| de | Pankreasagenesie-Holoprosenzephalie-Syndrom | |
| es | Síndrome de agenesia pancreática-holoprosencefalia | |
| it | Sindrome agenesia del pancreas - oloprosencefalia | |
| nl | Agenesie van pancreas - holoprosencefalie-syndroom | |
| pt | Síndrome de agenésia pancreática-holoprosencefalia | |
| pl | Zespół agenezji trzustki i holoprozencefalii | |
| cs | Syndrom ageneze pankreatu a holoprosencefalie | |
| uk | Синдром панкреатичної агенезії-голопрозенцефалії | |
| zh | 胰腺发育不全-全前脑无裂综合征 | |
| tr | Pankreas agenezi-holoprozensefali sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618500 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0034142 | E | validated | |
| UMLS | C5681334 | 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 (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - 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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CNOT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7877 | ENSG00000125107 | 604917 | 16q21 | CCR4-NOT transcription complex subunit 1 | 31006513[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 31006513[PMID]_28525974[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_31006513[PMID]_28525974[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
23 annotations · validated 2020-06-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012443 | Abnormality of brain morphology | |
| HP:0011467 | Absent gallbladder | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0031209 | Decreased lipoprotein lipase activity | |
| HP:0001360 | Holoprosencephaly | |
| HP:0410289 | Hypoamylasemia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000857 | Neonatal insulin-dependent diabetes mellitus | |
| HP:0100801 | Pancreatic aplasia | |
| HP:0030795 | Reduced C-peptide level | |
| HP:0001518 | Small for gestational age | |
| Occasional (29-5%) | ||
| HP:0010938 | Abnormal external nose morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb | |
| HP:0000218 | High palate | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0000601 | Hypotelorism | |
| HP:0012418 | Hypoxemia | |
| HP:0000369 | Low-set ears | |
| HP:0000269 | Prominent occiput | |
| HP:0002507 | Semilobar holoprosencephaly | |
| HP:0006315 | Single median maxillary incisor | |
| HP:0000340 | Sloping forehead | |
Annotation source: 28525974[PMID]_28525974[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/556955
- This record as JSON: /data/d/556955.json