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3 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
No signs/symptoms info
Homozygous familial hypercholesterolemia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

APOB HNRNPA1
LDLR HNRNPA2B1
LDLRAP1 VCP
PCSK9


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APOB
(0.73)
VCP



Citations in the biomedical literature:


Homozygous familial hypercholesterolemia
APOB LDLR LDLRAP1 PCSK9
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
HNRNPA1 HNRNPA2B1 VCP



Homozygous familial hypercholesterolemia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Synonym(s):
- HoFH

Synonym(s):
- IBMPFD
- Limb-girdle muscular dystrophy with Paget disease of bone
- Pagetoid amyotrophic lateral sclerosis
- Pagetoid neuroskeletal syndrome

Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.