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COFS syndrome
3 OMIM references -
4 associated genes
35 signs/symptoms
PROTEIN INTERACTIONS: 3
Li-Fraumeni syndrome
3 OMIM references -
2 associated genes
16 signs/symptoms
COFS syndrome
Li-Fraumeni syndrome

ERCC1
(UniProt - OMIM)
 CHEK2
(UniProt - OMIM)
ERCC2
(UniProt - OMIM)
 TP53
(UniProt - OMIM)
ERCC5
(UniProt - OMIM)
ERCC6
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ERCC6
ERCC2
ERCC6
(0.9)
(0.88)
(0.52)
TP53
TP53
CHEK2


Citations in the biomedical literature:


COFS syndrome
ERCC1 ERCC2 ERCC5 ERCC6
Li-Fraumeni syndrome
CHEK2 TP53



COFS syndrome
Li-Fraumeni syndrome

Synonym(s):
- Cerebrooculofacioskeletal syndrome
- Pena-Shokeir syndrome type 2
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare otorhinolaryngologic disease
- Rare skin disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: D016864
COFS syndrome
Li-Fraumeni syndrome

Very frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Arthrogryposis
- Autosomal recessive inheritance
- Broad nasal root
- Camptodactyly of fingers
- Cataract / lens opacification
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Death in infancy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral calcifications
- Long / large / bulbous nose
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Prominent metopic suture
- Protruding lips
- Restricted joint mobility / joint stiffness / ankylosis
- Short stature / dwarfism / nanism
- Thin / retracted lips

Frequent
- Areflexia / hyporeflexia
- Central deafness / hearing loss
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intrauterine growth retardation
- Late puberty / hypogonadism / hypogenitalism
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short neck
- Skin photosensitivity
- Visual loss / blindness / amblyopia

Occasional
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Peripheral neuropathy
- Retinitis pigmentosa / retinal pigmentary changes
- Talipes-varus / metatarsal varus


Very frequent
- Acute leukemia
- Autosomal dominant inheritance
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Breast neoplasm / tumor / carcinoma / cancer
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Colon neoplasm / tumor / carcinoma / cancer
- Cortical adrenal neoplasm / tumor / carcinoma / cancer
- Lymphoma
- Neoplasms / tumors
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Sarcoma
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma

Occasional
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Melanoma
- Oropharyngeal neoplasm / tumor / carcinoma / cancer