ODCs

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Cardiofaciocutaneous syndrome

4 OMIM references -
4 associated genes
78 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 9

Linear nevus sebaceus syndrome

1 OMIM reference -
2 associated genes
31 signs/symptoms

Cardiofaciocutaneous syndrome

Linear nevus sebaceus syndrome

BRAF	(UniProt - OMIM)	HRAS	(UniProt - OMIM)
KRAS	(UniProt - OMIM)	KRAS	(UniProt - OMIM)
MAP2K1	(UniProt - OMIM)
MAP2K2	(UniProt - OMIM)


COMMON GENES	KRAS


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BRAF MAP2K1	(0.78) (0.73)	HRAS HRAS

Citations in the biomedical literature:

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

	Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: any age Type of inheritance: sporadic

	External references: 4 OMIM references - 1 MeSH reference: C535579		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Anomalies of eyes and vision - Autosomal dominant inheritance - EEG anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - Frontal bossing / prominent forehead - Hypotonia - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intellectual deficit / mental / psychomotor retardation / learning disability - Narrow forehead

Cardiofaciocutaneous syndrome		Linear nevus sebaceus syndrome
	Very frequent - Absent / decreased / thin eyebrows - Anomalies of eyelids, eyelashes and lacrimal system - Anteverted nares / nostrils - Atrial septal defect / interauricular communication - Brittle hair / distrix / trichorrhexis - Broad cheeks / cherub-like / cherubin face - Cardiac valvulopathy - Coarse face - Congenital cardiac anomaly / malformation / cardiopathy - Dry / squaly skin / exfoliation - Euryblepharon / wide palpebral fissures - Fine hair - Flat supraorbital ridge - Hairy patch - Helix thickened / sculpted - Long face - Palmoplantar hyperkeratosis / keratoderma - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Rippled skin - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Absent / decreased lashes - Cafe-au-lait spot - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Deep palmar creases - Depressed nasal bridge - Diffuse / generalised skin hyperpigmentation / melanoderma - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Dysplastic / thick / grooved fingernails - Epicanthic folds - Flat cheek bones / malar hypoplasia - High forehead - High vaulted / narrow palate - Hyperelastic skin / cutaneous hyperlaxity - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Hypertelorism - Ichthyosis / ichthyosiform dermatitis - Long philtrum - Long / large ear - Low hair line (back) - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Myopia - Nystagmus - Pectus excavatum - Prematurity - Ptosis - Scoliosis - Short neck - Short / small nose - slow growth of the hair - Strabismus / squint - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray - Undescended / ectopic testes / cryptorchidia / unfixed testes - Webbed neck / pterygium colli Occasional - Cardiomyopathy / hypertrophic / dilated - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Cubitus valgus - Elocution disorders / dysarthria / dysphonia - Functional anomalies of the digestive system - Genu valgum - Hydrocephaly - Late puberty / hypogonadism / hypogenitalism - Loose skin / skin relaxation / excess skin / creases - Lymphedema - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Structural anomalies of the digestive tract		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 - Genu recurvatum - Hypereflexia - Pigmented naevi / naevus pigmentosus / lentigo - Prominent occiput / occipital bossing - Seizures / epilepsy / absences / spasms / status epilepticus - Telecanthus / canthal dystopy - Vertebral segmentation anomaly / hemivertebrae Frequent - 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