Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Synonyms: CBL syndrome · Noonan syndrome-like disorder with JMML
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, polymalformative syndrome characterized by a Noonan-like phenotype associated with increased risk of developing juvenile myelomonocytic leukemia (JMML). The Noonan-like (NS) phenotype includes dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), developmental delay, hypotonia and small head circumference. It can be associated with congenital heart defects or cardiomyopathy, ectodermal anomalies, and short stature. The NS phenotype is subtle or even inapparent in a large proportion of subjects, but may occasionally be severe. Leukemia can be the only clinical manifestation of the syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | CBL syndrome · Noonan syndrome-like disorder with JMML |
| fr | Syndrome Noonan-like avec leucémie myélomonocytaire juvénile | Syndrome CBL |
| de | Noonan-ähnliches Syndrom mit juveniler myelomonozytischer Leukämie | CBL-Syndrom · Noonan-ähnliches Syndrom mit JMML |
| es | Trastorno similar al síndrome de Noonan con leucemia mielomonocítica juvenil | Síndrome CBL · Trastorno de síndrome de Noonan-like con leucemia mielomonocítica juvenil · Trastorno similar al síndrome de Noonan con LMMJ |
| it | Sindrome Noonan-simile con leucemia mielomonocitica giovanile | Disturbo sindrome di Noonan-simile con JMML · Sindrome CBL |
| nl | Syndroom van Noonan-achtige aandoening met juveniele myelomonocytaire leukemie | CBL-syndroom · Syndroom van Noonan-achtige aandoening met JMML |
| pt | Doença semelhante ao síndrome de Noonan com leucemia mielonocítica juvenil | |
| pl | Zaburzenie podobne do zespołu Noonan z młodzieńczą białaczką mielomonocytarną | CBL syndrome · Zaburzenie podobne do zespołu Noonan z JMML |
| cs | Syndrom Noonan-like s juvenilní myelomonocytární leukémií | CBL syndrom · Syndrom Noonan-like s JMML |
| uk | Нунан-подібний синдром при ювенільній мієломоноцитарній лейкемії | Синдром ХБР · Синдром, подібний до синдрому Нунана, при ЮММЛ |
| zh | 努南综合征样障碍伴幼年型慢性骨髓单核细胞性白血病 | 努南综合征样障碍伴JMML |
| tr | Juvenil miyelomonositik lösemi ile seyreden Noonan sendromu benzeri bozukluk | CBL sendromu · JMML ile Noonan sendromu benzeri bozukluk |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613563 | E | validated | |
| ICD-10 | C93.3 | BTNT | attributed | validated |
| ICD-11 | 2A42.Y | NTBT | attributed | validated |
| MONDO | 0013308 | E | validated | |
| UMLS | C4016301 | 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 (4):
- 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:477771Rare disorder with a moyamoya angiopathy
rare genetic diseases; rare neurological diseases - ORPHA:217595Syndrome associated with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CBL | Disease-causing germline mutation(s) in | Assessed | HGNC:1541 | ENSG00000110395 | 165360 | 11q23.3 | Cbl proto-oncogene | 20543203[PMID]_20619386[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363972
- This record as JSON: /data/d/363972.json