Hypobetalipoproteinemia

Symptom Information:

Symptom ID: HPO:0003563
Synonyms:
Decreased LDL [HPO:0003563]
Hypobetalipoproteinemia [OMIM:Hypobetalipoproteinemia]
Quality:
Cross references:
OMIM: "Hypobetalipoproteinemia" [OMIM:Hypobetalipoproteinemia]
UMLS:C0020597 "Hypobetalipoproteinemia" [HPO:0003563]
Is a (Direct Parents):
HPO         Hypolipoproteinemia
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of lipid metabolism(HPO:0003119)
             Abnormality of cholesterol metabolism(HPO:0003107)
                Abnormality of the level of lipoprotein cholesterol(HPO:0010979)
                   Hypolipoproteinemia(HPO:0010981)
                      Hypobetalipoproteinemia(HPO:0003563)
MedDRA:
Database Frequency: 9 / 7739
Resource:

All diseases associated with this symptom:

APOLIPOPROTEIN C-III DEFICIENCY (OMIM:614028)
Autosomal recessive spastic paraplegia type 11 (Orphanet:2822)
Chylomicron retention disease (Orphanet:71)
HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 (OMIM:615558)
HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2 (OMIM:605019)
HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA,AND PALLIDAL DEGENERATION (OMIM:607236)
Hereditary sensory and autonomic neuropathy with spastic paraplegia (Orphanet:139578)
Hyperlipoproteinemia type 5 (Orphanet:70470)
Maturity-onset diabetes of the young, type 8, with exocrine dysfunction (OMIM:609812)