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1 OMIM reference -
3 associated genes
60 signs/symptoms
PROTEIN INTERACTIONS: 9
COMMON SIGNS: 8
8 OMIM references -
9 associated genes
57 signs/symptoms
Distal 22q11.2 microdeletion syndrome
Noonan syndrome

BCR BRAF
CRKL KAT6B
MAPK1 KRAS
NF1
NRAS
PTPN11
RAF1
RIT1
SOS1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MAPK1
CRKL
BCR
MAPK1
CRKL
MAPK1
BCR
MAPK1
CRKL
(0.92)
(0.83)
(0.82)
(0.63)
(0.62)
(0.62)
(0.52)
(0.52)
(0.49)
RAF1
PTPN11
SOS1
KRAS
SOS1
SOS1
PTPN11
BRAF
RAF1



Citations in the biomedical literature:


Distal 22q11.2 microdeletion syndrome
BCR CRKL MAPK1
Noonan syndrome
BRAF KAT6B KRAS NF1 NRAS PTPN11
RAF1 RIT1 SOS1



Distal 22q11.2 microdeletion syndrome
Noonan syndrome

Synonym(s):
- Distal del(22)(q11.2)
- Distal monosomy 22q11.2

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare infertility
- Rare oncologic disease
- Rare renal disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
8 OMIM references -
1 MeSH reference: D009634


COMMON
SIGNS
- Clinodactyly of fifth finger
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High vaulted / narrow palate
- Hyperextensible joints / articular hyperlaxity
- Sensorineural deafness / hearing loss
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia


Distal 22q11.2 microdeletion syndrome
Noonan 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

Frequent
- Absent / small fingernails / anonychia of hands
- Absent / small toenails / anonychia of feet
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- 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
- Flat cheek bones / malar hypoplasia
- Gastric / pyloric stenosis
- High nasal bridge
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hyperactivity / attention deficit
- 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
- 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


Very frequent
- Abnormally placed nipples
- Absent / hypotonic / flaccid abdominal wall muscles
- Anomalies of mouth, lip and philtrum
- Autosomal dominant inheritance
- Congenital cardiac anomaly / malformation / cardiopathy
- Cystic hygroma
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Excess nuchal skin without pterygium colli
- Helix / crux helix absent / abnormal / adherent / crux cymbae / posterior helix pits
- High forehead
- Hypertelorism
- Late puberty / hypogonadism / hypogenitalism
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mid-facial hypoplasia / short / small midface
- Muscle weakness / flaccidity
- Pectus carinatum
- Pectus excavatum
- Proptosis / exophthalmos
- Ptosis
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Pulmonary valve atresia / stenosis / narrowing
- Thick lips
- Triangular face
- Webbed neck / pterygium colli
- Wide rib cage / thorax

Frequent
- Abnormal dermatoglyphics
- Anomalies of the lymphatic system
- Cardiac rhythm disorder / arrhythmia
- Clotting / hemostasis disorders
- Coarse / thick hair
- Delayed bone age
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypotonia
- Low hair line (back)
- Platelets function anomaly
- Scoliosis
- Strabismus / squint
- Structural and functional anomalies of the spleen
- Structural anomalies of the genital system
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Lymphedema
- Nystagmus
- Pigmented naevi / naevus pigmentosus / lentigo
- Radioulnar synostosis
- Structural anomalies of inner ear / cochlea / vestible / semicircular canals