ORPHA:171829
6q16 microdeletion syndrome
Synonyms: Del(6)(q16) · Monosomy 6q16 · Prader-Willi-like syndrome due to microdeletion 6q16
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare Prader-Willi like syndrome due to an interstitial deletion located at 6q16.1q16.2 and characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 6q16 microdeletion syndrome | Del(6)(q16) · Monosomy 6q16 · Prader-Willi-like syndrome due to microdeletion 6q16 |
| fr | Syndrome de microdélétion 6q16 | Del(6)(q16) · Monosomie 6q16 · Syndrome de Prader-Willi-like dû à une microdélétion 6q16 |
| de | Mikrodeletionssyndrom 6q16 | Del(6)(q16) · Monosomie 6q16 · Prader-Willi-ähnliches Syndrom durch Deletion 6q16 |
| es | Síndrome de microdeleción 6q16 | Del(6)(q16) · Monosomía 6q16 · Síndrome similar a Prader-Willi por microdeleción 6q16 |
| it | Sindrome da delezione 6q16 | Del(6)(q16) · Monosomia 6q16 · Sindrome Prader-Willi-simile da delezione 6q16 |
| nl | 6q16-microdeletiesyndroom | Del(6)(q16) · Monosomie 6q16 · Prader-Willi-achtig syndroom door microdeletie 6q16 |
| pt | Síndrome de microdeleção 6q16 | |
| pl | Zespół delecji 6q16 | Del(6)(q16) · Monosomia 6q16 · Zespół podobny do zespołu Pradera i Williego spowodowany delecją 6q16 |
| cs | Syndrom delece 6q16 | Del(6)(q16) · Monozomie 6q16 · Prader-Willi-like syndrom způsobený delecí 6q16 |
| uk | Синдром мікроделеції 6q16 | Del(6)(q16) · Моносомія 6q16 · Синдром Прадера-Віллі внаслідок мікроделеції 6q16 |
| zh | 6q16微缺失综合征 | 6q16微缺失所致Prader-Willi样综合征 |
| tr | 6q16 mikrodelesyon sendromu | Del (6) (q16) · Monozomi 6q16 · Mikrodelesyon 6q16 ya bağlı Prader-Willi benzeri sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD29 | NTBT | index | validated |
| MONDO | 0015749 | E | validated | |
| UMLS | C5438727 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:262047Partial deletion of the long arm of chromosome 6 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:398073Prader-Willi-like syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SIM1 | Role in the phenotype of | Assessed | HGNC:10882 | ENSG00000112246 | 603128 | 6q16.3 | SIM bHLH transcription factor 1 | 24038875[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 24038875[PMID] | |
| 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.
6
HPO phenotypes
32 annotations · validated 2020-10-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| HP:0001513 | Obesity | |
| Frequent (79-30%) | ||
| HP:0025160 | Abnormal temper tantrums | |
| HP:0007874 | Almond-shaped palpebral fissure | |
| HP:0000293 | Full cheeks | |
| HP:0000256 | Macrocephaly | |
| HP:0000341 | Narrow forehead | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0002591 | Polyphagia | |
| HP:0002033 | Poor suck | |
| HP:0001328 | Specific learning disability | |
| HP:0000486 | Strabismus | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0031703 | Abnormal ear morphology | |
| HP:0000765 | Abnormal thorax morphology | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000463 | Anteverted nares | |
| HP:0000729 | Autistic behavior | |
| HP:0000337 | Broad forehead | |
| HP:0002136 | Broad-based gait | |
| HP:0000414 | Bulbous nose | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0001833 | Long foot | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0008551 | Microtia | |
| HP:0002370 | Poor coordination | |
| HP:0000278 | Retrognathia | |
| HP:0001182 | Tapered finger | |
| HP:0000574 | Thick eyebrow | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 18925680[PMID]_20301505[PMID]_16829351[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171829
- This record as JSON: /data/d/171829.json