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Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
Distal 22q11.2 microdeletion syndrome
1 OMIM reference -
3 associated genes
60 signs/symptoms
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Distal 22q11.2 microdeletion syndrome

CBL
(UniProt - OMIM)
 BCR
(UniProt - OMIM)
CRKL
(UniProt - OMIM)
MAPK1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CBL
CBL
(0.97)
(0.83)
CRKL
BCR


Citations in the biomedical literature:


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
CBL
Distal 22q11.2 microdeletion syndrome
BCR CRKL MAPK1



Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Distal 22q11.2 microdeletion syndrome

Synonym(s):
- CBL syndrome
- Noonan syndrome-like disorder with JMML
Synonym(s):
- Distal del(22)(q11.2)
- Distal monosomy 22q11.2
Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Distal 22q11.2 microdeletion syndrome

Very frequent
- High arched eyebrows
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Philtrum flat / large / featureless / absent cupidon bows
- Prematurity
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Absent / small fingernails / anonychia of hands
- Absent / small toenails / anonychia of feet
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Clinodactyly of fifth finger
- Common arterial trunk / truncal valve
- Deepset eyes / enophthalmos
- External ear anomalies
- Flat foot
- Intrauterine growth retardation
- Microcephaly
- Pointed chin
- Thin / hypoplastic ala nasi
- Thin / retracted lips

Occasional
- Ankyloglossia / lingual synechiae
- Aortic root dilatation / dilation / aneurysm
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Atrial septal defect / interauricular communication
- Blepharophimosis / short palpebral fissures
- Bowed diaphysis / diaphyses / long bones
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Camptodactyly of some fingers
- Choanal atresia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Encopresis / fecal incontinence
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Flat cheek bones / malar hypoplasia
- Gastric / pyloric stenosis
- High nasal bridge
- High vaulted / narrow palate
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperactivity / attention deficit
- Hyperextensible joints / articular hyperlaxity
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Inguinal / inguinoscrotal / crural hernia
- Long face
- Long hand / arachnodactyly
- Lordosis
- Microstomia / little mouth
- Obsessive-compulsive disorder
- Oculomotor apraxia / dyspraxia
- Recurrent urinary infections
- Repeat respiratory infections
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Short hand / brachydactyly
- Syndactyly of toes
- Terminal / third phalangeal bone of fingers hypoplasia
- Tics / stereotypias
- Ulnar deviation of fingers
- Ventricular septal defect / interventricular communication
- Wide space between 1st-2nd toes


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

(no data available)