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1 OMIM reference -
2 associated genes
31 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 5
COMMON SIGNS: 5
8 OMIM references -
9 associated genes
57 signs/symptoms
Linear nevus sebaceus syndrome
Noonan syndrome

HRAS BRAF
KRAS KAT6B
KRAS
NF1
NRAS
PTPN11
RAF1
RIT1
SOS1


COMMON
GENES
KRAS


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HRAS
KRAS
HRAS
HRAS
HRAS
(0.99)
(0.99)
(0.97)
(0.78)
(0.72)
RAF1
RAF1
SOS1
BRAF
NF1



Citations in the biomedical literature:


Linear nevus sebaceus syndrome
HRAS KRAS
Noonan syndrome
BRAF KAT6B NF1 NRAS PTPN11
RAF1 RIT1 SOS1



Linear nevus sebaceus syndrome
Noonan syndrome

Synonym(s):
- Nevus sebaceus of Jadassohn
- Nevus sebaceus syndrome
- Organoid nevus syndrome
- Schimmelpenning syndrome
- Solomon syndrome

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin 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: unknown
Average age onset: childhood
Average age of death: any age
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
- Autosomal dominant inheritance
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypotonia
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Pigmented naevi / naevus pigmentosus / lentigo


Linear nevus sebaceus syndrome
Noonan syndrome

Very frequent
- Adenoma sebaceum
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Areflexia / hyporeflexia
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- Cavernous / tuberous hemangioma
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Coloboma of iris
- Dilated cerebral ventricles without hydrocephaly
- EEG anomalies
- Frontal bossing / prominent forehead
- Genu recurvatum
- Hypereflexia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Narrow forehead
- Prominent occiput / occipital bossing
- Seizures / epilepsy / absences / spasms / status epilepticus
- Telecanthus / canthal dystopy
- Vertebral segmentation anomaly / hemivertebrae

Frequent
- Anomalies of eyes and vision
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Irregular / in bands / reticular skin hyperpigmentation
- Plagiocephaly
- Porencephaly

Occasional
- Corpus callosum / septum pellucidum total / partial agenesis
- Dandy-Walker anomaly
- Intracranial / cerebral 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
- 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)
- 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
- Lymphedema
- Nystagmus
- Radioulnar synostosis
- Sensorineural deafness / hearing loss
- Short hand / brachydactyly
- Structural anomalies of inner ear / cochlea / vestible / semicircular canals