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COFS syndrome
3 OMIM references -
4 associated genes
35 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Kennedy disease
1 OMIM reference -
1 associated gene
12 signs/symptoms
COFS syndrome
Kennedy disease

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

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ERCC2
(0.56)
AR


Citations in the biomedical literature:


COFS syndrome
ERCC1 ERCC2 ERCC5 ERCC6
Kennedy disease
AR



COFS syndrome
Kennedy disease

Synonym(s):
- Cerebrooculofacioskeletal syndrome
- Pena-Shokeir syndrome type 2
Synonym(s):
- Bulbospinal muscular atrophy
- SBMA
- Spinal and bulbar muscular atrophy
- Spinobulbar muscular atrophy
- X-linked bulbospinal amyotrophy
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 infertility
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -
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: 1-9 / 100 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: x-linked recessive
External references:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Areflexia / hyporeflexia
- Hypotonia

COFS syndrome
Kennedy disease

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
- 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
- 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
- Abnormal gait
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Impotence / painful erection / priapism / erection troubles
- Movement disorder
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- X-linked recessive inheritance

Occasional
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insulin-independent / type 2 diabetes
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia