Neurofibromatosis-Noonan syndrome
Synonyms: NFNS · Neurofibromatosis type 1-Noonan syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neurofibromatosis-Noonan syndrome | NFNS · Neurofibromatosis type 1-Noonan syndrome |
| fr | Neurofibromatose-syndrome de Noonan | NFNS · Neurofibromatose type 1-syndrome de Noonan |
| de | Neurofibromatose-Noonan-Syndrom | NFNS · Neurofibromatose Typ 1-Noonan-Syndrom |
| es | Neurofibromatosis-síndrome de Noonan | NFNS · Neurofibromatosis tipo 1-síndrome de Noonan |
| it | Sindrome neurofibromatosi-Noonan | NFNS · Sindrome neurofibromatosi 1-Noonan |
| nl | Neurofibromatose - syndroom van Noonan | NFNS · Neurofibromatose type 1 - syndroom van Noonan |
| pt | Síndrome de neurofibromatose-Noonan | |
| pl | Neurofibromatoza - zespół Noonan | Nerwiakowłókniakowatość typu 1-zespół Noonan · NFNS |
| cs | Neurofibromatóza-Noonanové syndrom | NFNS · Neurofibromatóza, typ I, a Noonanové syndrom · NF1-Noonanové syndrom |
| uk | Синдром нейрофіброматозу-Нунана | Нейрофіброматоз типу 1 - синдром Нуннана · NFNS |
| zh | 神经纤维瘤病-努南综合征 | 神经纤维瘤病1型-努南综合征 |
| tr | Nörofibromatoz-Noonan sendromu | NFNS · Nörofibromatozis tip 1-Noonan sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601321 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0011035 | E | validated | |
| MeSH | C537393 | E | validated | |
| UMLS | C2931482 | E | validated | |
| GARD | 372 | 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 (7):
- ORPHA:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:183487Genetic skin tumor or hamartoma
rare genetic diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin diseases - ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:98196Malformation syndrome with hamartosis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:98733Noonan syndrome and Noonan-related syndrome
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:79386Rare skin tumor or hamartoma
rare skin diseases; rare neoplastic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAP2K2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6842 | ENSG00000126934 | 601263 | 19p13.3 | mitogen-activated protein kinase kinase 2 | 24311457[PMID] |
| NF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7765 | ENSG00000196712 | 613113 | 17q11.2 | neurofibromin 1 | 22847776[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
HPO phenotypes
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009023 | Abdominal wall muscle weakness | |
| HP:0011039 | Abnormal helix morphology | |
| HP:0000271 | Abnormality of the face | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000316 | Hypertelorism | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0007565 | Multiple cafe-au-lait spots | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000508 | Ptosis | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0004322 | Short stature | |
| HP:0001328 | Specific learning disability | |
| HP:0000465 | Webbed neck | |
| Frequent (79-30%) | ||
| HP:0000765 | Abnormal thorax morphology | |
| HP:0100763 | Abnormality of the lymphatic system | |
| HP:0000028 | Cryptorchidism | |
| HP:0002015 | Dysphagia | |
| HP:0003010 | Prolonged bleeding time | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/638
- This record as JSON: /data/d/638.json