Cytoscape Web
Click node...

Cardiofaciocutaneous syndrome
4 OMIM references -
4 associated genes
78 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5
LIG4 syndrome
1 OMIM reference -
1 associated gene
34 signs/symptoms
Cardiofaciocutaneous syndrome
LIG4 syndrome

BRAF
(UniProt - OMIM)
 LIG4
(UniProt - OMIM)
KRAS
(UniProt - OMIM)
MAP2K1
(UniProt - OMIM)
MAP2K2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MAP2K2
(0.72)
LIG4


Citations in the biomedical literature:


Cardiofaciocutaneous syndrome
BRAF KRAS MAP2K1 MAP2K2
LIG4 syndrome
LIG4



Cardiofaciocutaneous syndrome
LIG4 syndrome

Synonym(s):
- CFC syndrome
Synonym(s):
- DNA ligase IV deficiency
- Ligase 4 syndrome
Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: young adult
Type of inheritance: autosomal recessive
External references:
4 OMIM references -
1 MeSH reference: C535579
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Epicanthic folds
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Narrow forehead
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Cardiofaciocutaneous syndrome
LIG4 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
- Fine hair
- Flat supraorbital ridge
- Hairy patch
- Helix thickened / sculpted
- Hypotonia
- 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
- 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
- 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
- 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
- Autosomal recessive inheritance
- Chromosome breakage
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Microcephaly

Frequent
- Acute leukemia
- Anomalies of skin, subcutaneous tissue and mucosae
- Bone marrow failure / pancytopenia
- Brachycephaly / flat occiput
- Broad nasal root
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Long / large / bulbous nose
- Low hair line-front
- Lymphoma
- Micrognathia / retrognathia / micrognathism / retrognathism
- Skin photosensitivity
- Telecanthus / canthal dystopy
- Thin / retracted lips
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Occasional
- Anomalies of bones / skeletal anomalies
- Clinodactyly of fifth finger
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hyperleukocytosis / leukocytosis
- Hypothyroidy
- Insulin-independent / type 2 diabetes
- Lymphadenopathy / polyadenopathies
- Malabsorption / chronic diarrhea / steatorrhea
- Micropenis / small penis / agenesis
- Severe combined immune deficiency syndrome / SCID
- Telangiectasiae of the skin