ORPHA:97685
17q11 microdeletion syndrome
Synonyms: Del(17)(q11) · Monosomy 17q11 · NF1 microdeletion syndrome · Neurofibromatosis type 1 microdeletion syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 17q11 microdeletion syndrome | Del(17)(q11) · Monosomy 17q11 · NF1 microdeletion syndrome · Neurofibromatosis type 1 microdeletion syndrome |
| fr | Syndrome de microdélétion 17q11 | Del(17)(q11) · Monosomie 17q11 · Syndrome de microdélétion-NF1 · Syndrome de microdélétion-neurofibromatose type 1 |
| de | Mikrodeletionssyndrom 17q11 | Del(17)(q11) · Monosomie 17q11 · NF1-Mikrodeletionssyndrom · Neurofibromatose Typ 1-Mikrodeletionssyndrom |
| es | Síndrome de microdeleción 17q11 | Del(17)(q11) · Monosomía 17q11 · Síndrome de microdeleción NF1 · Síndrome de microdeleción neurofibromatosis tipo 1 |
| it | Sindrome da microdelezione 17q11 | Del(17)(q11) · Monosomia 17q11 · Sindrome da microdelezione-NF1 · Sindrome da microdelezione-neurofibromatosi tipo 1 |
| nl | 17q11-microdeletiesyndroom | Del(17)(q11) · Monosomie 17q11 · NF1-microdeletiesyndroom · Neurofibromatose type 1-microdeletiesyndroom |
| pt | Síndrome de microdeleção 17q11 | |
| pl | Zespół mikrodelecji 17q11 | Del(17)(q11) · Monosomia 17q11 · NF1 spowodowany mikrodelecją · Zespół mikrodelecji NF1 |
| cs | Mikrodeleční syndrom 17q11 | Del(17)(q11) · Monozomie 17q11 · Mikrodeleční syndrom NF1 · Neurofibromatóza, typ 1, mikrodeleční syndrom |
| uk | Синдром мікроделеції 17q11 | Del(17)(q11) · Моносомія 17q11 · Синдром мікроделеції нейрофіброматозу типу 1 · Синдром мікроделеції NF1 |
| zh | 17q11微缺失综合征 | 神经纤维瘤病1型微缺失综合征 |
| tr | 17q11 mikrodelesyon sendromu | Del (17) (q11) · Monozomi 17q11 · NF1 mikrodelesyon sendromu · Nörofibromatoz tip 1 mikrodelesyon sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613675 | E | validated | |
| ICD-10 | Q85.0 | NTBT | attributed | validated |
| ICD-11 | LD44.H0 | NTBT | index | validated |
| MONDO | 0013357 | E | validated | |
| MeSH | C563524 | E | validated | |
| UMLS | C5401456 | E | validated | |
| GARD | 5408 | 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:636Neurofibromatosis type 1
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare skin diseases; rare renal diseases; rare ophthalmic disorders; rare bone diseases; rare neoplastic diseases; rare transplant-related disorders - ORPHA:262137Partial deletion of the long arm of chromosome 17 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NF1 | Role in the phenotype of | Assessed | HGNC:7765 | ENSG00000196712 | 613113 | 17q11.2 | neurofibromin 1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 170 cases | Worldwide | Case(s) | Validated | 16467218[PMID] | |
| Point prevalence | Unknown | — | 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
94 annotations · validated 2020-10-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001480 | Freckling | |
| HP:0007565 | Multiple cafe-au-lait spots | |
| HP:0012760 | Reduced social responsiveness | |
| HP:0000736 | Short attention span | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0011442 | Abnormality of central motor function | |
| HP:0000271 | Abnormality of the face | |
| HP:0000708 | Atypical behavior | |
| HP:0004562 | Beaking of vertebral bodies T12-L3 | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0002315 | Headache | |
| HP:0000822 | Hypertension | |
| HP:0002463 | Language impairment | |
| HP:0009737 | Lisch nodules | |
| HP:0002354 | Memory impairment | |
| HP:0002076 | Migraine | |
| HP:0025105 | Nevus anemicus | |
| HP:0200034 | Papule | |
| HP:0009732 | Plexiform neurofibroma | |
| HP:0000529 | Progressive visual loss | |
| HP:0002360 | Sleep abnormality | |
| HP:0001328 | Specific learning disability | |
| HP:0100585 | Telangiectasia of the skin | |
| HP:0001072 | Thickened skin | |
| Occasional (29-5%) | ||
| HP:0000610 | Abnormal choroid morphology | |
| HP:3000062 | Abnormal internal carotid artery morphology | |
| HP:0002088 | Abnormal lung morphology | |
| HP:0430022 | Abnormality of the sphenoid sinus | |
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0007524 | Atypical neurofibromatosis | |
| HP:0000729 | Autistic behavior | |
| HP:0000618 | Blindness | |
| HP:0030692 | Brain neoplasm | |
| HP:0010796 | Brainstem glioma | |
| HP:0000337 | Broad forehead | |
| HP:0010795 | Cerebellar glioma | |
| HP:0012492 | Cerebral artery stenosis | |
| HP:0001680 | Coarctation of aorta | |
| HP:0000490 | Deeply set eye | |
| HP:0000823 | Delayed puberty | |
| HP:0004944 | Dilatation of the cerebral artery | |
| HP:0003165 | Elevated circulating parathyroid hormone level | |
| HP:0007359 | Focal-onset seizure | |
| HP:0000501 | Glaucoma | |
| HP:0009733 | Glioma | |
| HP:0001263 | Global developmental delay | |
| HP:0001034 | Hypermelanotic macule | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002808 | Kyphosis | |
| HP:0001176 | Large hands | |
| HP:0001833 | Long foot | |
| HP:0031023 | Multiple mucosal neuromas | |
| HP:0032458 | Narrowing of medullary canal | |
| HP:0100697 | Neurofibrosarcoma | |
| HP:0009734 | Optic nerve glioma | |
| HP:0002797 | Osteolysis | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0012531 | Pain | |
| HP:0001271 | Polyneuropathy | |
| HP:0000520 | Proptosis | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0007236 | Recurrent subcortical infarcts | |
| HP:0001920 | Renal artery stenosis | |
| HP:0100817 | Renovascular hypertension | |
| HP:0007850 | Retinal vascular proliferation | |
| HP:0100008 | Schwannoma | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
| HP:0001297 | Stroke | |
| HP:0000935 | Thickened cortex of long bones | |
| Very rare (<4-1%) | ||
| HP:0002979 | Bowing of the legs | |
| HP:0003002 | Breast carcinoma | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0100252 | Diaphyseal dysplasia | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0100775 | Dural ectasia | |
| HP:0100723 | Gastrointestinal stroma tumor | |
| HP:0003001 | Glomus jugular tumor | |
| HP:0000316 | Hypertelorism | |
| HP:0001909 | Leukemia | |
| HP:0000369 | Low-set ears | |
| HP:0002863 | Myelodysplasia | |
| HP:0002666 | Pheochromocytoma | |
| HP:0000826 | Precocious puberty | |
| HP:0002859 | Rhabdomyosarcoma | |
| HP:0000465 | Webbed neck | |
| HP:0006610 | Wide intermamillary distance | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 30564341[PMID]_20301288[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/97685
- This record as JSON: /data/d/97685.json