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1 OMIM reference -
2 associated genes
19 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 7
8 OMIM references -
9 associated genes
57 signs/symptoms
17p13.3 microduplication syndrome
Noonan syndrome

PAFAH1B1 BRAF
YWHAE KAT6B
KRAS
NF1
NRAS
PTPN11
RAF1
RIT1
SOS1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
YWHAE
YWHAE
(0.88)
(0.72)
RAF1
BRAF



Citations in the biomedical literature:


17p13.3 microduplication syndrome
PAFAH1B1 YWHAE
Noonan syndrome
BRAF KAT6B KRAS NF1 NRAS PTPN11
RAF1 RIT1 SOS1



17p13.3 microduplication syndrome
Noonan syndrome

Synonym(s):
- 17p13.3 duplication syndrome
- Dup(17)(p13.3)
- Trisomy 17p13.3

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic 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: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
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
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- High forehead
- High vaulted / narrow palate
- Hypertelorism
- Hypotonia
- Low set ears / posteriorly rotated ears


17p13.3 microduplication syndrome
Noonan syndrome

Very frequent
- Broad nose / nasal bridge
- Frontal bossing / prominent forehead
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microstomia / little mouth
- Short / small nose

Frequent
- Short neck

Occasional
- Corpus callosum / septum pellucidum total / partial agenesis
- Dilated cerebral ventricles without hydrocephaly
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Inguinal / inguinoscrotal / crural hernia
- Micropenis / small penis / agenesis
- Tall stature / gigantism / growth acceleration


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
- 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
- Hyperextensible joints / articular hyperlaxity
- Late puberty / hypogonadism / hypogenitalism
- 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)
- 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
- Sensorineural deafness / hearing loss
- Short hand / brachydactyly
- Structural anomalies of inner ear / cochlea / vestible / semicircular canals