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COFS syndrome

3 OMIM references -
4 associated genes
35 signs/symptoms

PROTEIN INTERACTIONS: 1

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

1 associated gene
No signs/symptoms info

COFS syndrome

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

ERCC1	(UniProt - OMIM)	ISG15	(UniProt - OMIM)
ERCC2	(UniProt - OMIM)
ERCC5	(UniProt - OMIM)
ERCC6	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ERCC2	(0.63)	ISG15

Citations in the biomedical literature:

COFS syndrome		Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
	Synonym(s): - Cerebrooculofacioskeletal syndrome - Pena-Shokeir syndrome type 2		Synonym(s): - MSMD due to complete ISG15 deficiency

	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 genetic disease - Rare immune 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: 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: normal Type of inheritance: autosomal recessive

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

COFS 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
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
(no data available)