Cpt Deficiency malady

MalaCards: Cpt Deficiency, also known as malnutrition, is related to cpt ii deficiency and carnitine palmitoyl transferase 1 deficiency. An important gene associated with Cpt Deficiency is CPT1A (carnitine palmitoyltransferase 1A (liver)), and among its related pathways are Development Leptin signaling via PI3K-dependent pathway and Adipocytokine signaling pathway. The compounds perhexiline and pristanic acid have been mentioned in the context of this disorder.

cpt deficiency 7 malnutrition 43

Diseases related to cpt deficiency by text searches and GeneDecks gene sharing:

(show top 50)    (show all 324)

id	Related Disease	Score	Top Affiliating Genes
1	cpt ii deficiency	29.9	CPT2, CPT1A
2	carnitine palmitoyl transferase 1 deficiency	28.9	CPT1B, CPT1A
3	insulin resistance	26.1	CPT1A, CPT1B, CPT2
4	obesity	23.9	CPT1A, CPT1B, CPT2
5	cholesterol	23.5	CPT1A, CPT1B, CPT2
6	visceral steatosis	12.6	CPT1B, CPT1A
7	eclampsia	12.3	CPT1A, CPT1B
8	carnitine-acylcarnitine translocase deficiency	12.3	CPT2, CPT1A
9	fatty acid oxidation disorders	12.3	CPT1A, CPT2
10	fatty liver disease	12.3	CPT2, CPT1A
11	congestive heart failure	12.2	CPT2, CPT1A
12	hypoglycemia	12.1	CPT2, CPT1A
13	oculomotor apraxia cogan type	12.1	CPT1A, CPT2
14	pre-eclampsia	12.0	CPT1A, CPT1B
15	bilirubin metabolic disorder	11.9	CPT2, CPT1A
16	carnitine deficiency	11.8	CPT1A, CPT1B, CPT2
17	essential hypertension	11.8	CPT2, CPT1B, CPT1A
18	hypertension	11.7	CPT1A, CPT1B, CPT2
19	protein-energy malnutrition	8.9
20	peritonitis	7.5
21	cpt deficiency, hepatic, type ia	6.6
22	cpt deficiency, hepatic, type ii	6.6
23	atherosclerosis	6.5
24	diabetes mellitus	6.5
25	alcoholism	6.3
26	hepatitis	6.3
27	anemia	6.0
28	anorexia nervosa	6.0
29	pancreatitis	6.0
30	carnitine palmitoyltransferase 1a deficiency	5.7
31	carnitine palmitoyltransferase ia deficiency	5.7
32	status epilepticus	5.7
33	diarrhea	5.6
34	rickets	5.6
35	uremia	5.6
36	carcinoma	5.6
37	ancylostomiasis	5.1
38	chronic obstructive pulmonary disease	5.1
39	cystic fibrosis	5.1
40	fibrosis	5.1
41	hyperhomocysteinemia	5.1
42	immunodeficiency	5.1
43	kwashiorkor	5.1
44	liver cirrhosis	5.1
45	marasmus	5.1
46	nutritional deficiency disease	5.1
47	overnutrition	5.1
48	pulmonary disease	5.1
49	17-beta-hydroxysteroid dehydrogenase x deficiency	4.2
50	agat deficiency	4.2

Approved drugs:

Drug clinical trials:

Articles related to cpt deficiency:

id	Title	Authors	Year	Affiliating Genes
1	A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy. (16168441)	Sciacco M.... Moggio M.	2005	CPT2
2	Atypical presentation of carnitine palmitoyltransferase (CPT) deficiency as status epilepticus. (7751848)	Shintani S.... Sugiyama N.	1995	CPT1B

Genes related to cpt deficiency according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	CPT1A	carnitine palmitoyltransferase 1A (liver)	11.0
2	CPT2	carnitine palmitoyltransferase 2	11.0	Publications
3	CPT1B	carnitine palmitoyltransferase 1B (muscle)	11.0	Publications

Pathways related to cpt deficiency according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Development Leptin signaling via PI3K-dependent pathway10	9.3	CPT1A, CPT1B
2	Adipocytokine signaling pathway20	9.3	CPT1A, CPT1B
3	Development_Leptin signaling via PI3K-dependent pathway41	9.2	CPT1A, CPT1B
4	Fatty acid, triacylglycerol, and ketone body metabolism38	8.8	CPT1B, CPT2
5	Fatty acid metabolism20	8.7	CPT1A, CPT1B, CPT2
6	PPAR signaling pathway20	8.6	CPT1A, CPT1B, CPT2
7	AMPK Enzyme Complex Pathway36	8.6	CPT2, CPT1B, CPT1A

Compounds related to cpt deficiency according to GeneDecks:

(show all 18)

id	Compound	Score	Top Affiliating Genes
1	perhexiline32 9 9	11.3	CPT1A, CPT2
2	pristanic acid32 18	10.2	CPT1A, CPT2
3	linoleic acid32 18	10.0	CPT1A, CPT2
4	s-adenosylmethionine32 9 18 9	11.9	CPT1A, CPT2
5	etomoxir32	8.8	CPT1A, CPT1B, CPT2
6	malonyl-coa32 18	9.8	CPT1A, CPT1B, CPT2
7	L-Carnitine9 18 9	10.8	CPT2, CPT1B, CPT1A
8	Coenzyme A9 18 9	10.8	CPT1A, CPT1B, CPT2
9	carnitine32	8.8	CPT2, CPT1B, CPT1A
10	acyl-coa32	8.8	CPT1A, CPT1B, CPT2
11	palmitate32	8.8	CPT2, CPT1B, CPT1A
12	citrate32	8.7	CPT2, CPT1A
13	glycerol32 9 18 9	11.7	CPT2, CPT1B, CPT1A
14	acetyl-coa32 18	9.7	CPT1A, CPT1B, CPT2
15	pyruvate32	8.7	CPT2, CPT1B, CPT1A
16	glycogen32 18	9.6	CPT1A, CPT1B, CPT2
17	fatty acid32	8.6	CPT2, CPT1B, CPT1A
18	lipid32	8.5	CPT1A, CPT1B, CPT2

Cellular components related to cpt deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial outer membrane	GO:005741	9.2	CPT1A, CPT1B
2	mitochondrial inner membrane	GO:005743	9.0	CPT1A, CPT2
3	mitochondrion	GO:005739	8.2	CPT1A, CPT1B, CPT2

Biological processes related to cpt deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	carnitine shuttle	GO:006853	8.6	CPT1A, CPT1B, CPT2
2	regulation of fatty acid oxidation	GO:046320	8.5	CPT1A, CPT1B, CPT2
3	small molecule metabolic process	GO:044281	8.5	CPT1A, CPT1B, CPT2
4	fatty acid beta-oxidation	GO:006635	8.4	CPT2, CPT1B, CPT1A
5	cellular lipid metabolic process	GO:044255	8.2	CPT1A, CPT1B, CPT2

Molecular functions related to cpt deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	carnitine O-palmitoyltransferase activity	GO:004095	8.5	CPT1A, CPT1B, CPT2