17q12 microdeletion syndrome
Synonyms: Del(17)(q12) · Monosomy 17q12
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 17q12 microdeletion syndrome | Del(17)(q12) · Monosomy 17q12 |
| fr | Syndrome de microdélétion 17q12 | Del(17)(q12) · Monosomie 17q12 |
| de | Mikrodeletionssyndrom 17q12 | Del(17)(q12) · Monosomie 17q12 |
| es | Síndrome de microdeleción 17q12 | Del(17)(q12) · Monosomía 17q12 |
| it | Sindrome da microdelezione 17q12 | Del(17)(q12) · Monosomia 17q12 |
| nl | 17q12-microdeletiesyndroom | Del(17)(q12) · Monosomie 17q12 |
| pt | Síndrome de microdeleção 17q12 | |
| pl | Zespół mikrodelecji 17q12 | Del(17)(q12) · Monosomia 17q12 |
| cs | Syndrom mikrodelece 17q12 | Del(17)(q12) · Monozomie 17q12 |
| uk | Синдром мікроделеції 17q12 | Del(17)(q12) · Моносомія 17q12 |
| zh | 17q12微缺失综合征 | 17q12单体 |
| tr | 17q12 mikrodelesyon sendromu | Del (17) (q12) · Monoszomi 17q12 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614527 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.H0 | NTBT | index | validated |
| MONDO | 0013797 | E | validated | |
| UMLS | C4518822 | E | validated | |
| GARD | 13297 | 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:262137Partial deletion of the long arm of chromosome 17 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HNF1B | Role in the phenotype of | Not yet assessed | HGNC:11630 | ENSG00000275410 | 189907 | 17q12 | HNF1 homeobox B | |
| LHX1 | Role in the phenotype of | Assessed | HGNC:6593 | ENSG00000273706 | 601999 | 17q12 | LIM homeobox 1 | 22740494[PMID] |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27409573[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.16 / 100 000 | Denmark | Value and class | Validated | 27409573[PMID] |
| Cases/families | 103 cases | Worldwide | Case(s) | Validated | 27409573[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
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000003 | Multicystic kidney dysplasia | |
| Frequent (79-30%) | ||
| HP:0000819 | Diabetes mellitus | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0000717 | Autism | |
| HP:0002059 | Cerebral atrophy | |
| HP:0000028 | Cryptorchidism | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0011968 | Feeding difficulties | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0001249 | Intellectual disability | |
| HP:0002463 | Language impairment | |
| HP:0000239 | Large fontanelles | |
| HP:0001562 | Oligohydramnios | |
| HP:0100801 | Pancreatic aplasia | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0000083 | Renal insufficiency | |
| HP:0001250 | Seizure | |
| HP:0000049 | Shawl scrotum | |
| HP:0012157 | Subcortical cerebral atrophy | |
| HP:0000070 | Ureterocele | |
Run the differential on the 1 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261265
- This record as JSON: /data/d/261265.json