Cytoscape Web
Click node...


PROTEIN INTERACTIONS: 1
3 OMIM references -
4 associated genes
35 signs/symptoms
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
COFS syndrome

ISG15 ERCC1
ERCC2
ERCC5
ERCC6


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ISG15
COFS syndrome
ERCC1 ERCC2 ERCC5 ERCC6



Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
COFS syndrome

Synonym(s):
- MSMD due to complete ISG15 deficiency

Synonym(s):
- Cerebrooculofacioskeletal syndrome
- Pena-Shokeir syndrome type 2

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
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 (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
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

External references:
No OMIM references
No MeSH references
External references:
3 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)