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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
4 associated genes
78 signs/symptoms
Autosomal dominant nonsyndromic intellectual deficit
Cardiofaciocutaneous syndrome

CACNG2 BRAF
CDH15 KRAS
CTNNB1 MAP2K1
DOCK8 MAP2K2
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GRIN1
(0.59)
MAP2K2



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Cardiofaciocutaneous syndrome
BRAF KRAS MAP2K1 MAP2K2



Autosomal dominant nonsyndromic intellectual deficit
Cardiofaciocutaneous syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- CFC syndrome

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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

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


Autosomal dominant nonsyndromic intellectual deficit

(no data available)