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Cardiofaciocutaneous syndrome

4 OMIM references -
4 associated genes
78 signs/symptoms

PROTEIN INTERACTIONS: 1

Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

1 OMIM reference -
1 associated gene
No signs/symptoms info

Cardiofaciocutaneous syndrome

Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BRAF	(0.72)	PHKB

Citations in the biomedical literature:

Cardiofaciocutaneous syndrome		Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
	Synonym(s): - CFC syndrome		Synonym(s): - GSD due to liver and muscle phosphorylase kinase deficiency - GSD type 9B - GSD type IXb - Glycogen storage disease type 9B - Glycogen storage disease type IXb - Glycogenosis due to liver and muscle phosphorylase kinase deficiency - Glycogenosis type 9B - Glycogenosis type IXb

	Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hepatic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: normal Type of inheritance: autosomal recessive

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

Cardiofaciocutaneous syndrome
	Very frequent - Absent / decreased / thin eyebrows - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of eyes and vision - Anteverted nares / nostrils - Atrial septal defect / interauricular communication - Autosomal dominant inheritance - 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 - Failure to thrive / difficulties for feeding in infancy / growth delay - Fine hair - Flat supraorbital ridge - Hairy patch - Helix thickened / sculpted - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - 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 - EEG anomalies - Epicanthic folds - Flat cheek bones / malar hypoplasia - Frontal bossing / prominent forehead - High forehead - High vaulted / narrow palate - Hyperelastic skin / cutaneous hyperlaxity - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Hypertelorism - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Ichthyosis / ichthyosiform dermatitis - Long philtrum - Long / large ear - Low hair line (back) - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Myopia - Narrow forehead - 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
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
(no data available)