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Homozygous familial hypercholesterolemia
3 OMIM references -
4 associated genes
45 connected diseases
No signs/symptoms info
Disease Type of connection
Donnai-Barrow syndrome
Hyperlipidemia type 3
Lipoprotein glomerulopathy
Sea-blue histiocytosis
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Rare isolated myopia
Abetalipoproteinemia
Apolipoprotein A-I deficiency
Familial renal amyloidosis due to Apolipoprotein AI variant
Hyperlipidemia due to hepatic triglyceride lipase deficiency
Inflammatory myofibroblastic tumor
Primary systemic amyloidosis
Translocation renal cell carcinoma
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Aneurysm - osteoarthritis syndrome
Cornelia de Lange syndrome
Familial partial lipodystrophy due to AKT2 mutations
Familial thoracic aortic aneurysm and aortic dissection
Giant cell glioblastoma
Gliosarcoma
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Branchio-oculo-facial syndrome
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Familial apolipoprotein C-II deficiency
Familial renal amyloidosis due to Apolipoprotein AII variant
Synonym(s):
- HoFH
Classification (Orphanet):
- Inborn errors of metabolism
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
APOB P04114107730
LDLR P01130606945
LDLRAP1 Q5SW96605747
PCSK9 Q8NBP7607786
No signs/symptoms info available.