ORPHA:500
Noonan syndrome with multiple lentigines
Synonyms: Cardiomyopathic lentiginosis · Familial multiple lentigines syndrome · LEOPARD syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare multisystem genetic disorder characterized by cutaneous lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Noonan syndrome with multiple lentigines | Cardiomyopathic lentiginosis · Familial multiple lentigines syndrome · LEOPARD syndrome |
| fr | Syndrome de Noonan avec lentigines multiples | Lentiginose cardiomyopathique · Syndrome LEOPARD · Syndrome des lentigines multiples familial |
| de | Noonan-Syndrom mit multiplen Lentigines | Familiäres multiples Lentigines-Syndrom · LEOPARD-Syndrom · Lentiginose, kardiomyopathische |
| es | Síndrome de Noonan con léntigos múltiples | Lentiginosis cardiomiopática · Síndrome LEOPARD · Síndrome familiar de léntigos múltiples |
| it | Sindrome di Noonan con lentiggini multiple | Lentigginosi cardiomiopatica · Sindrome LEOPARD · Sindrome familiare da lentiggini multiple |
| nl | Syndroom van Noonan met meervoudige lentigines | Cardiomyopathische lentiginose · Familiale meervoudige lentigines-syndroom · LEOPARD-syndroom |
| pt | Síndrome Noonan com lentigos múltiplos | Lentiginose cardiomiopática · Síndrome LEOPARD |
| pl | Zespół Noonan z mnogimi plamami soczewicowatymi | Mnogie plamy soczewicowate i kardiomiopatia · Rodzinny zespół mnogich plam soczewicowatych · Zespół LEOPARD |
| cs | Noonanové syndrom s mnohočetnými lentiginózními pigmentacemi | Kardiomyopatická lentiginóza · LEOPARD syndrom · Familiární syndrom mnohočetných lenitginózních névů |
| uk | Синдром Нунана з множинними пігментними плямами | Кардіоміопатичний лентигіноз · Сімейний синдром множинного лентігінозу · Синдром LEOPARD |
| zh | 努南综合征伴多发雀斑样痣 | 家族性多发性雀斑样痣综合征 |
| tr | Çoklu lentijinler ile Noonan sendromu | LEOPARD sendromu · Kardiyomiyopatik lentiginoz · Ailesel multi lentijin sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 151100 | E | validated | |
| OMIM | 611554 | BTNT | validated | |
| OMIM | 613707 | BTNT | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0007893 | E | validated | |
| MeSH | D044542 | E | validated | |
| UMLS | C0175704 | E | validated | |
| GARD | 1100 | E | validated | |
| MedDRA | 10062901 | 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 (11):
- ORPHA:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin diseases - ORPHA:619340Inherited hematologic cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:98196Malformation syndrome with hamartosis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:98733Noonan syndrome and Noonan-related syndrome
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:217595Syndrome associated with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RAF1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:9829 | ENSG00000132155 | 164760 | 3p25.2 | Raf-1 proto-oncogene, serine/threonine kinase | 20301557[PMID] |
| BRAF | Disease-causing germline mutation(s) in | Assessed | HGNC:1097 | ENSG00000157764 | 164757 | 7q34 | B-Raf proto-oncogene, serine/threonine kinase | 20301557[PMID] |
| PTPN11 | Disease-causing germline mutation(s) in | Assessed | HGNC:9644 | ENSG00000179295 | 176876 | 12q24.13 | protein tyrosine phosphatase non-receptor type 11 | 20301557[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 296 cases | Worldwide | Case(s) | Validated | 21500339[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.
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HPO phenotypes
50 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001641 | Abnormal pulmonary valve morphology | |
| HP:0000078 | Abnormality of the genital system | |
| HP:0004414 | Abnormality of the pulmonary artery | |
| HP:0011675 | Arrhythmia | |
| HP:0011710 | Bundle branch block | |
| HP:0001480 | Freckling | |
| HP:0001510 | Growth delay | |
| HP:0000974 | Hyperextensible skin | |
| HP:0000316 | Hypertelorism | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000995 | Melanocytic nevus | |
| HP:0001003 | Multiple lentigines | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0008625 | Severe sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001633 | Abnormal mitral valve morphology | |
| HP:0000271 | Abnormality of the face | |
| HP:0006695 | Atrioventricular canal defect | |
| HP:0000028 | Cryptorchidism | |
| HP:0000144 | Decreased fertility | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0000768 | Pectus carinatum | |
| HP:0000767 | Pectus excavatum | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000508 | Ptosis | |
| HP:0003691 | Scapular winging | |
| HP:0004322 | Short stature | |
| HP:0000912 | Sprengel anomaly | |
| HP:0000465 | Webbed neck | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0100542 | Abnormal localization of kidney | |
| HP:0004306 | Abnormality of the endocardium | |
| HP:0001608 | Abnormality of the voice | |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | |
| HP:0000248 | Brachycephaly | |
| HP:0002617 | Dilatation | |
| HP:0007392 | Excessive wrinkled skin | |
| HP:0001263 | Global developmental delay | |
| HP:0000047 | Hypospadias | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002861 | Melanoma | |
| HP:0002863 | Myelodysplasia | |
| HP:0001658 | Myocardial infarction | |
| HP:0003006 | Neuroblastoma | |
| HP:0002650 | Scoliosis | |
| HP:0003298 | Spina bifida occulta | |
| HP:0001482 | Subcutaneous nodule | |
| HP:0000325 | Triangular face | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/500
- This record as JSON: /data/d/500.json