ODCs

Cytoscape Web

Click node...

3 OMIM references -
4 associated genes
35 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

Cabezas syndrome

1 OMIM reference -
1 associated gene
23 signs/symptoms

COFS syndrome

Cabezas syndrome

ERCC1	(UniProt - OMIM)		CUL4B	(UniProt - OMIM)
ERCC2	(UniProt - OMIM)
ERCC5	(UniProt - OMIM)
ERCC6	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ERCC6	(0.63)	CUL4B

Citations in the biomedical literature:

COFS syndrome		Cabezas syndrome
	Synonym(s): - Cerebrooculofacioskeletal syndrome - Pena-Shokeir syndrome type 2		Synonym(s): - X-linked intellectual deficit, Cabezas type

	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 developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

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

	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: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: x-linked recessive

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Immunodeficiency / increased susceptibility to infections / recurrent infections - Intellectual deficit / mental / psychomotor retardation / learning disability - Late puberty / hypogonadism / hypogenitalism - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism

COFS syndrome		Cabezas 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 - Intracranial / cerebral calcifications - Long / large / bulbous nose - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Prominent metopic suture - Protruding lips - Restricted joint mobility / joint stiffness / ankylosis - Thin / retracted lips Frequent - Areflexia / hyporeflexia - Central deafness / hearing loss - Intrauterine growth retardation - 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 - Inguinal / inguinoscrotal / crural hernia - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Abnormal gait - Blepharophimosis / short palpebral fissures - Everted lower lip - Generalized obesity - Macrocephaly / macrocrania / megalocephaly / megacephaly - Pes cavus - Short foot / brachydactyly of toes - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - Tremor - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy - Wide space between 1st-2nd toes Occasional - Acanthosis nigricans - Hyperextensible joints / articular hyperlaxity - Hyperhidrosis / increased sweating - Kyphosis - Syndactyly of toes