Lipase deficiency, combined
- Synonyms
- LIPOPROTEIN LIPASE DEFICIENCY WITH HEPATIC TRIGLYCERIDE LIPASE DEFICIENCY; LPL AND HL DEFICIENCY; LPL AND HTGL DEFICIENCY
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (19 available)
Clinical features
Help- Abnormality of metabolism/homeostasis
- Hypertriglyceridemia
Hypertriglyceridemia
- MedGen UID: 167238
- Concept ID: C0813230
- Finding: Finding
Abnormality of metabolism/homeostasis
- Type 2 diabetes mellitus
Type 2 diabetes mellitus
- MedGen UID: 41523
- Concept ID: C0011860
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypertriglyceridemia
- Abnormality of the immune system
- Pancreatitis
Pancreatitis
- MedGen UID: 14586
- Concept ID: C0030305
- Finding: Disease or Syndrome
Abnormality of the immune system
- Pancreatitis
- Abnormality of the integument
- Tuberous xanthoma
Tuberous xanthoma
- MedGen UID: 86213
- Concept ID: C0302164
- Finding: Disease or Syndrome
Abnormality of the integument
- Tuberous xanthoma
- Abnormality of the musculoskeletal system
- Lipodystrophy
Lipodystrophy
- MedGen UID: 6111
- Concept ID: C0023787
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Lipodystrophy
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