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3 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
6 OMIM references -
7 associated genes
No signs/symptoms info
Homozygous familial hypercholesterolemia
Osteogenesis imperfecta type 4

APOB COL1A1
LDLR COL1A2
LDLRAP1 CRTAP
PCSK9 PPIB
SP7
TMEM38B
WNT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APOB
(0.84)
PPIB



Citations in the biomedical literature:


Homozygous familial hypercholesterolemia
APOB LDLR LDLRAP1 PCSK9
Osteogenesis imperfecta type 4
COL1A1 COL1A2 CRTAP PPIB SP7 TMEM38B
WNT1



Homozygous familial hypercholesterolemia
Osteogenesis imperfecta type 4

Synonym(s):
- HoFH

Synonym(s):
- OI type 4

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 odontologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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

External references:
3 OMIM references -
No MeSH references
External references:
6 OMIM references -
1 MeSH reference: C536045

No signs/symptoms info available.