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Metachondromatosis
1 OMIM reference -
1 associated gene
10 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Noonan syndrome
8 OMIM references -
9 associated genes
57 signs/symptoms
Metachondromatosis
Noonan syndrome

PTPN11
(UniProt - OMIM)
 BRAF
(UniProt - OMIM)
KAT6B
(UniProt - OMIM)
KRAS
(UniProt - OMIM)
NF1
(UniProt - OMIM)
NRAS
(UniProt - OMIM)
PTPN11
(UniProt - OMIM)
RAF1
(UniProt - OMIM)
RIT1
(UniProt - OMIM)
SOS1
(UniProt - OMIM)

COMMON
GENES 		PTPN11
INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PTPN11
(0.83)
SOS1


Citations in the biomedical literature:


Metachondromatosis
PTPN11
Noonan syndrome
BRAF KAT6B KRAS NF1 NRAS
RAF1 RIT1 SOS1



Metachondromatosis
Noonan syndrome

Classification (Orphanet):
- Rare bone disease
- 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:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
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:
1 OMIM reference -
No MeSH references
External references:
8 OMIM references -
1 MeSH reference: D009634
COMMON
SIGNS 		- Autosomal dominant inheritance

Metachondromatosis
Noonan syndrome

Very frequent
- Bone pain
- Cranial nerves palsy
- Enchondroses
- Epiphyseal anomaly
- Exostoses
- Metaphyseal anomaly
- Osteonecrosis / bone infarction
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Periarticular tissue anomaly / extraarticular calcifications



Very frequent
- Abnormally placed nipples
- Absent / hypotonic / flaccid abdominal wall muscles
- Anomalies of mouth, lip and philtrum
- 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