ORPHA:96184
Temple syndrome due to maternal uniparental disomy of chromosome 14
Synonyms: UPD(14)mat
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Temple syndrome due to maternal uniparental disomy of chromosome 14 | UPD(14)mat |
| fr | Syndrome de Temple lié à une disomie uniparentale maternelle du chromosome 14 | UPD(14) maternelle · UPD(14)mat |
| de | Temple-Syndrom bei maternaler uniparentaler Disomie von Chromosom 14 | = en |
| es | Síndrome de Temple por disomía uniparental materna del cromosoma 14 | = en |
| it | Sindrome di Temple da disomia uniparentale materna del cromosoma 14 | = en |
| nl | Syndroom van Temple door maternale uniparentale disomie van chromosoom 14 | = en |
| pt | Dissomia uniparental de origem materna, cromossoma 14 | |
| pl | Zespół Temple spowodowany matczyną jednorodzicielską disomią chromosomu 14 | = en |
| cs | Maternální uniparentální dizomie chromozomu 14 | = en |
| uk | Синдром Темпла, зумовлений материнською уніпарентною дисомією хромосоми 14 | = en |
| zh | 母源性14号染色体单亲二体所致Temple综合征 | 母源性UPD(14) |
| tr | 14. kromozomun maternal uniparental dizomisine bağlı Temple sendromu | UPD (14) mat |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616222 | NTBT | validated | |
| ICD-10 | Q99.8 | NTBT | attributed | validated |
| ICD-11 | LD2Y | NTBT | attributed | validated |
| MONDO | 0019915 | E | validated | |
| UMLS | C5680248 | 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:98153Maternal uniparental disomy syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:254516Temple syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare endocrine diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DLK1 | Role in the phenotype of | Assessed | HGNC:2907 | ENSG00000185559 | 176290 | 14q32.2 | delta like non-canonical Notch ligand 1 | 18176563[PMID] |
| MEG3 | Role in the phenotype of | Assessed | HGNC:14575 | ENSG00000214548 | 605636 | 14q32.2 | maternally expressed 3 | 18176563[PMID]_24801763[PMID] |
| RTL1 | Role in the phenotype of | Assessed | HGNC:14665 | ENSG00000254656 | 611896 | 14q32.2 | retrotransposon Gag like 1 | 18176563[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 64 cases | Worldwide | Case(s) | Validated | 28640239[PMID]_24891339[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28640239[PMID]_24891339[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
35 annotations · validated 2020-10-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001252 | Hypotonia | |
| HP:0001270 | Motor delay | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0000826 | Precocious puberty | |
| HP:0001773 | Short foot | |
| HP:0200055 | Small hand | |
| Frequent (79-30%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001382 | Joint hypermobility | |
| HP:0001513 | Obesity | |
| HP:0001622 | Premature birth | |
| HP:0004322 | Short stature | |
| HP:0001518 | Small for gestational age | |
| HP:0001956 | Truncal obesity | |
| Occasional (29-5%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0000193 | Bifid uvula | |
| HP:0000175 | Cleft palate | |
| HP:0030084 | Clinodactyly | |
| HP:0000028 | Cryptorchidism | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0011968 | Feeding difficulties | |
| HP:0000293 | Full cheeks | |
| HP:0000218 | High palate | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0004904 | Maturity-onset diabetes of the young | |
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0007010 | Poor fine motor coordination | |
| HP:0011220 | Prominent forehead | |
| HP:0002021 | Pyloric stenosis | |
| HP:0000403 | Recurrent otitis media | |
| HP:0002650 | Scoliosis | |
| HP:0000322 | Short philtrum | |
| HP:0000445 | Wide nose | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 24891339[PMID]_29468661[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96184
- This record as JSON: /data/d/96184.json