ODCs

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Carnitine palmitoyl transferase 1A deficiency

1 OMIM reference -
1 associated gene
19 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Chronic granulomatous disease

6 OMIM references -
5 associated genes
25 signs/symptoms

Carnitine palmitoyl transferase 1A deficiency

Chronic granulomatous disease

CPT1A	(UniProt - OMIM)	CYBA	(UniProt - OMIM)
		CYBB	(UniProt - OMIM)
		NCF1	(UniProt - OMIM)
		NCF2	(UniProt - OMIM)
		NCF4	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CPT1A	(0.63)	CYBA

Citations in the biomedical literature:

Carnitine palmitoyl transferase 1A deficiency		Chronic granulomatous disease
	Synonym(s): - CPT1A deficiency - Carnitine palmitoyl transferase IA deficiency - Hepatic carnitine palmitoyl transferase 1 deficiency - Hepatic carnitine palmitoyl transferase I deficiency - L-CPT1 deficiency - L-CPTI deficiency		Synonym(s): - Chronic septic granulomatosis

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare immune disease - Rare respiratory disease - Rare skin disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 6 OMIM references - 1 MeSH reference: D006105


COMMON SIGNS	- Autosomal recessive inheritance - Hepatomegaly / liver enlargement (excluding storage disease)

Carnitine palmitoyl transferase 1A deficiency		Chronic granulomatous disease
	Very frequent - Areflexia / hyporeflexia - Asthenia / fatigue / weakness - Hepatocellular liver disease / hepatic failure - Hypoglycemia - Hypotonia - Metabolic anomalies - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Psychic / behavioural troubles - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Hemiplegia / diplegia / hemiparesia / limb palsy - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Obnubilation / coma / lethargia / desorientation Occasional - Cardiac rhythm disorder / arrhythmia - Cardiomyopathy / hypertrophic / dilated - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Renal tubular defect / tubulopathy		Very frequent - Chronic obstructive pulmonary disease / COPD / obstructive respiratory syndrome - Chronic / relapsing otitis - Fever / chilling - Gastric / pyloric stenosis - Immunodeficiency / increased susceptibility to infections / recurrent infections - Macules - Malabsorption / chronic diarrhea / steatorrhea - Mediastinal / hilar adenopathies - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Polynuclear cells / neutrophils anomalies / neutropenia - Repeat respiratory infections - Skin photosensitivity - Tracheo-esophageal fistula / esophageal atresia / stenosis - Urticaria - X-linked recessive inheritance Occasional - Chronic skin infection / ulcerations / ulcers / cancrum - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Eczema - Gingivitis - Liver / hepatic abscess - Meningitis / meningeal syndrome - Sepsis severe / septicemia - Splenomegaly