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PROTEIN INTERACTIONS: 1
8 OMIM references -
9 associated genes
57 signs/symptoms
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Noonan syndrome

IFNGR1 BRAF
KAT6B
KRAS
NF1
NRAS
PTPN11
RAF1
RIT1
SOS1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IFNGR1
(0.52)
PTPN11



Citations in the biomedical literature:


Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
IFNGR1
Noonan syndrome
BRAF KAT6B KRAS NF1 NRAS PTPN11
RAF1 RIT1 SOS1



Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Noonan syndrome

Synonym(s):
- Autosomal dominant MSMD due to partial IFNgammaR1 deficiency
- Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
- Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare immune 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):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

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

Noonan syndrome

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
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Helix / crux helix absent / abnormal / adherent / crux cymbae / posterior helix pits
- High forehead
- High vaulted / narrow palate
- Hyperextensible joints / articular hyperlaxity
- 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
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- 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
- Clinodactyly of fifth finger
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Lymphedema
- Nystagmus
- Pigmented naevi / naevus pigmentosus / lentigo
- Radioulnar synostosis
- Sensorineural deafness / hearing loss
- Short hand / brachydactyly
- Structural anomalies of inner ear / cochlea / vestible / semicircular canals


Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency

(no data available)