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1 OMIM reference -
2 associated genes
31 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4
1 OMIM reference -
1 associated gene
29 signs/symptoms
Linear nevus sebaceus syndrome
Watson syndrome

HRAS NF1
KRAS


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HRAS
(0.72)
NF1



Citations in the biomedical literature:


Linear nevus sebaceus syndrome
HRAS KRAS
Watson syndrome
NF1



Linear nevus sebaceus syndrome
Watson syndrome

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

Synonym(s):
- Pulmonic stenosis with 'cafe-au-lait' spots

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare surgical cardiac 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: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal dominant inheritance
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus


Linear nevus sebaceus syndrome
Watson 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
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Narrow forehead
- Pigmented naevi / naevus pigmentosus / lentigo
- Prominent occiput / occipital bossing
- 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
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Intracranial / cerebral calcifications


Very frequent
- Broad forehead
- Cafe-au-lait spot
- Cutaneous neurofibromas / facial angiofibromas / Koenen tumors
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Excess nuchal skin without pterygium colli
- Excessive freckling
- Hypertelorism
- Philtrum deeply grooved
- Philtrum flat / large / featureless / absent cupidon bows
- Ptosis
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Short neck
- Short stature / dwarfism / nanism

Frequent
- Congenital cardiac anomaly / malformation / cardiopathy
- Epicanthic folds
- Hypospadias / epispadias / bent penis
- Inguinal / inguinoscrotal / crural hernia
- Long / large ear
- Pectus excavatum
- Puffy eyelids
- Scoliosis
- Triangular face
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Kyphosis
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia