Details of Disease | DrugMAP

General Information of Disease (ID: DISL7VVN)

Disease Name	Carnitine palmitoyl transferase II deficiency, neonatal form
Synonyms	Cpt2 deficiency, lethal neonatal; CPT 2 deficiency, lethal neonatal; Carnitine Palmitoyltransferase 2 deficiency, lethal neonatal; Carnitine Palmitoyltransferase 2 deficiency, neonatal; CARNITINE PALMITOYLTRANSFERASE II deficiency, lethal neonatal; Carnitine Palmitoyltransferase 2 deficiency, antenatal; CPT2, neonatal form; CPTII, neonatal form; Carnitine palmitoyl transferase deficiency type 2, lethal systemic form; CPT2, lethal systemic form; carnitine palmitoyl transferase II deficiency, neonatal form; CPTII, lethal systemic form; Carnitine palmitoyl transferase II deficiency, lethal systemic form; CPT II deficiency, lethal neonatal; Carnitine palmitoyl transferase deficiency type 2, neonatal form
Definition	The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.
Disease Hierarchy	DIS3GFD9: Carnitine palmitoyltransferase II deficiency DISL7VVN: Carnitine palmitoyl transferase II deficiency, neonatal form
Disease Identifiers	MONDO ID MONDO_0012136 MESH ID C563463 UMLS CUI C1833518 OMIM ID 608836 MedGen ID 318896 Orphanet ID 228308

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CPT2	OTIN6G20	Strong	Autosomal recessive	[1]
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References

1	PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.