Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Lipid Metabolism, Inborn Errors (D008052)
Parent Node: Mitochondrial Diseases (D028361)
Parent Node: Muscular Diseases (D009135)
..Starting node ..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
Child Nodes:
Sister Nodes:
..Alpha-B Crystallinopathy (C563848)
..Anal Sphincter Myopathy, Internal (C566287)
..Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..Arthrogryposis (D001176) 55
..Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
..Compartment Syndromes (D003161) 3
..Contracture (D003286) 41
..Craniomandibular Disorders (D017271) 4
..Dimauro disease (C536176)
..Encephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
..Eosinophilia-Myalgia Syndrome (D016603)
..Epiphyseal Dysplasia, Multiple, with Myopathy (C563420)
..Erythrocyte Amp Deaminase Deficiency (C567878)
..Erythrocyte Lactate Transporter Defect (C565449)
..Fatigue Syndrome, Chronic (D015673)
..Fibromyalgia (D005356)
..Fingerprint Body Myopathy (C564425)
..Hereditary Myopathy with Early Respiratory Failure (C566343)
..Hypertrophia Musculorum Vera (C564152)
..Isaacs Syndrome (D020386)
..Kocher-Debre-Semelaigne syndrome (C537211)
..Marinesco-Sjogren-like syndrome (MSLS) (C535913)
..Medial Tibial Stress Syndrome (D058923)
..Mesoectodermal dysplasia (C538472)
..Mitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..Mitochondrial Myopathies (D017240) 33
..Muscle Cramp (D009120) 3
..Muscle Neoplasms (D019042)
..Muscle Rigidity (D009127) 3
..Muscle Spasticity (D009128) 17
..Muscle Weakness (D018908) 5
..Muscular Disorders, Atrophic (D020966) 120
..Muscular Hypoplasia, Congenital Universal, of Krabbe (C563553)
..Musculoskeletal Pain (D059352) 2
..Myalgia (D063806)
..Myofascial Pain Syndromes (D009209) 1
..Myopathic carnitine deficiency (C536100)
..Myopathies, Structural, Congenital (D020914) 34
..Myopathy due to Malate-Aspartate Shuttle Defect (C564973)
..Myopathy with Giant Abnormal Mitochondria (C564971)
..Myopathy with Lactic Acidosis, Hereditary (C564972)
..Myopathy, Cataract, Hypogonadism Syndrome (C563578)
..Myopathy, congenital nonprogressive with Moebius and Robin sequences (C536102)
..Myopathy, Congenital, With Excess Of Muscle Spindles (C566896)
..Myopathy, Early-Onset, with Fatal Cardiomyopathy (C567129)
..Myopathy, Granulovacuolar Lobular, with Electrical Myotonia (C564974)
..Myopathy, Hyaline Body, Autosomal Recessive (C564970)
..MYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
..MYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
..MYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
..Myopathy, Myosin Storage (C564253)
..Myopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
..Myopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
..Myopathy, X-Linked, with Excessive Autophagy (C564093)
..Myositis (D009220) 16
..Myostatin-related muscle hypertrophy (C536106)
..Myotonic Disorders (D020967) 10
..Neutral Lipid Storage Disease with Myopathy (C565192)
..Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Paralyses, Familial Periodic (D010245) 7
..Pectoralis Muscle, Absence of (C566793)
..Polymyalgia Rheumatica (D011111)
..Proximal Myopathy with Focal Depletion of Mitochondria (C563453)
..Rhabdomyolysis (D012206) 6
..Rippling muscle disease, 1 (C535686)
..Salih Myopathy (C580430)
..Secretory Diarrhea, Myopathy, and Deafness (C564382)
..Singleton Merten syndrome (C537343)
..Systemic carnitine deficiency (C536778)
..Tel Hashomer camptodactyly syndrome (C536953)
..Tendinopathy (D052256) 5
..Treft Sanborn Carey syndrome (C536544)
..Triglyceride storage disease with impaired long-chain fatty acid oxidation (C536560)
..Uruguay Faciocardiomusculoskeletal Syndrome (C564544)
..Vacuolar myopathy (C536522)
..VLCAD deficiency (C536353)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1783

Name:

Carnitine Palmitoyltransferase II Deficiency, Late-Onset

Definition:

Alternative IDs:

OMIM:255110

ParentIDs:

MESH:D008052|MESH:D009135|MESH:D028361

TreeNumbers:

C05.651/C563461 |C10.668.491/C563461 |C16.320.565.398/C563461 |C18.452.584.562/C563461 |C18.452.648.398/C563461 |C18.452.660/C563461

Synonyms:

Carnitine Palmitoyltransferase II Deficiency, Adult-Onset |Carnitine Palmitoyltransferase II Deficiency, Myopathic |CPT2 Deficiency, Late-Onset |CPT II Deficiency, Myopathic

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C563461
MeSH: C563461
OMIM: 255110;

Genes: CPT2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0003394	Muscle spasm
4	HP:0003552	Muscle stiffness
5	HP:0001324	Muscle weakness
6	HP:0003326	Myalgia
7	HP:0002913	Myoglobinuria
8	HP:0000083	Renal insufficiency
9	HP:0003201	Rhabdomyolysis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000098.2(CPT2):c.149C>A (p.Pro50His)	1376	CPT2	Pathogenic	28936375	RCV000009512; RCV000009511; RCV000202440;	N	MedGen:C0342790,ORPHA:157,SNOMED CT:238002005; MedGen:C1833508,OMIM:255110,ORPHA:228302; MedGen:C1833511,OMIM:600649,ORPHA:228305	1	53662764	53662764	NM_000098.2:c.149C>A	NP_000089.1:p.Pro50His	NC_000001.10:g.53662764C>A	OMIM Allelic Variant:600650.0003	C0342790 Carnitine palmitoyltransferase II deficiency; C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile; C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset
NM_000098.2(CPT2):c.338C>T (p.Ser113Leu)	1376	CPT2	Pathogenic	74315294	RCV000009510; RCV000194764; RCV000185836; RCV000202499;	N	MedGen:C0342790,ORPHA:157,SNOMED CT:238002005; MedGen:C1833508,OMIM:255110,ORPHA:228302; MedGen:C1833518,OMIM:608836,ORPHA:228308; MedGen:CN221809	1	53668099	53668099	NM_000098.2:c.338C>T	NP_000089.1:p.Ser113Leu	NC_000001.10:g.53668099C>T	HGMD:CM930171,OMIM Allelic Variant:600650.0002	C0342790 Carnitine palmitoyltransferase II deficiency; C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset; C1833518 608836 Carnitine palmitoyltransferase II deficiency, lethal neonatal; CN221809 not provided
NM_000098.2(CPT2):c.638A>G (p.Asp213Gly)	1376	CPT2	Pathogenic	74315300	RCV000009529;	N	MedGen:C1833508,OMIM:255110,ORPHA:228302	1	53675984	53675984	NM_000098.2:c.638A>G	NP_000089.1:p.Asp213Gly	NC_000001.10:g.53675984A>G	OMIM Allelic Variant:600650.0016	C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset
NM_000098.2(CPT2):c.886C>T (p.Arg296Ter)	1376	CPT2	Likely pathogenic;Pathogenic	727503887	RCV000169096; RCV000153105;	N	MedGen:C1833508,OMIM:255110,ORPHA:228302; MedGen:C1833511,OMIM:600649,ORPHA:228305	1	53676232	53676232	NM_000098.2:c.886C>T	NP_000089.1:p.Arg296Ter	NC_000001.10:g.53676232C>T	HGMD:CM045609	C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile; C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset
NM_000098.2(CPT2):c.1148T>A (p.Phe383Tyr)	1376	CPT2	Pathogenic	74315295	RCV000009517; RCV000009518; RCV000202462;	N	MedGen:C0342790,ORPHA:157,SNOMED CT:238002005; MedGen:C1833508,OMIM:255110,ORPHA:228302; MedGen:C1833511,OMIM:600649,ORPHA:228305	1	53676494	53676494	NM_000098.2:c.1148T>A	NP_000089.1:p.Phe383Tyr	NC_000001.10:g.53676494T>A	OMIM Allelic Variant:600650.0007	C0342790 Carnitine palmitoyltransferase II deficiency; C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile; C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset
NM_000098.2(CPT2):c.1239_1240delGA (p.Lys414Thrfs)	1376	CPT2	Pathogenic	397509431	RCV000009520; RCV000202553; RCV000078117; RCV000185837; RCV000202516;	N	MedGen:C0342790,ORPHA:157,SNOMED CT:238002005; MedGen:C1833508,OMIM:255110,ORPHA:228302; MedGen:CN221809	1	53676585	53676586	NM_000098.2:c.1239_1240delGA	NP_000089.1:p.Lys414Thrfs	NC_000001.10:g.53676585_53676586delGA	HGMD:CD991686	C0342790 Carnitine palmitoyltransferase II deficiency; C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset; CN221809 not provided
NM_000098.2(CPT2):c.1239_1240delGA (p.Lys414Thrfs)	1376	CPT2	Pathogenic	397509431	RCV000009520; RCV000202553; RCV000078117; RCV000185837; RCV000202516;	N	MedGen:C0342790,ORPHA:157,SNOMED CT:238002005; MedGen:C1833508,OMIM:255110,ORPHA:228302; MedGen:CN221809	1	53676585	53676586	NM_000098.2:c.1239_1240delGA	NP_000089.1:p.Lys414Thrfs	NC_000001.10:g.53676585_53676586delGA	HGMD:CD991686	C0342790 Carnitine palmitoyltransferase II deficiency; C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset; CN221809 not provided
NM_000098.2(CPT2):c.1342T>C (p.Phe448Leu)	1376	CPT2	Pathogenic	74315297	RCV000178040; RCV000202478; RCV000009520; RCV000202553;	N	MedGen:C0342790,ORPHA:157,SNOMED CT:238002005; MedGen:C1833508,OMIM:255110,ORPHA:228302; MedGen:CN221809	1	53676688	53676688	NM_000098.2:c.1342T>C	NP_000089.1:p.Phe448Leu	NC_000001.10:g.53676688T>C	OMIM Allelic Variant:600650.0009	C0342790 Carnitine palmitoyltransferase II deficiency; C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset; CN221809 not provided
NM_000098.2(CPT2):c.1342T>C (p.Phe448Leu)	1376	CPT2	Pathogenic	74315297	RCV000178040; RCV000202478; RCV000009520; RCV000202553;	N	MedGen:C0342790,ORPHA:157,SNOMED CT:238002005; MedGen:C1833508,OMIM:255110,ORPHA:228302; MedGen:CN221809	1	53676688	53676688	NM_000098.2:c.1342T>C	NP_000089.1:p.Phe448Leu	NC_000001.10:g.53676688T>C	OMIM Allelic Variant:600650.0009	C0342790 Carnitine palmitoyltransferase II deficiency; C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset; CN221809 not provided
NM_000098.2(CPT2):c.1360G>T (p.Glu454Ter)	1376	CPT2	Pathogenic	74315299	RCV000009528;	N	MedGen:C1833508,OMIM:255110,ORPHA:228302	1	53676706	53676706	NM_000098.2:c.1360G>T	NP_000089.1:p.Glu454Ter	NC_000001.10:g.53676706G>T	OMIM Allelic Variant:600650.0015	C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset
NM_000098.2(CPT2):c.1657G>A (p.Asp553Asn)	1376	CPT2	Pathogenic	28936376	RCV000009513;	N	MedGen:C1833508,OMIM:255110,ORPHA:228302	1	53678947	53678947	NM_000098.2:c.1657G>A	NP_000089.1:p.Asp553Asn	NC_000001.10:g.53678947G>A	OMIM Allelic Variant:600650.0004	C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset
NM_000098.2(CPT2):c.1883A>C (p.Tyr628Ser)	1376	CPT2	Pathogenic	28936673	RCV000009514; RCV000009515; RCV000202449;	N	MedGen:C0342790,ORPHA:157,SNOMED CT:238002005; MedGen:C1833508,OMIM:255110,ORPHA:228302; MedGen:C1833511,OMIM:600649,ORPHA:228305	1	53679173	53679173	NM_000098.2:c.1883A>C	NP_000089.1:p.Tyr628Ser	NC_000001.10:g.53679173A>C	OMIM Allelic Variant:600650.0005	C0342790 Carnitine palmitoyltransferase II deficiency; C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile; C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset
NM_000098.2(CPT2):c.1891C>T (p.Arg631Cys)	1376	CPT2	Pathogenic	74315293	RCV000009508; RCV000009509; RCV000202472;	N	MedGen:C0342790,ORPHA:157,SNOMED CT:238002005; MedGen:C1833508,OMIM:255110,ORPHA:228302; MedGen:C1833511,OMIM:600649,ORPHA:228305	1	53679181	53679181	NM_000098.2:c.1891C>T	NP_000089.1:p.Arg631Cys	NC_000001.10:g.53679181C>T	OMIM Allelic Variant:600650.0001	C0342790 Carnitine palmitoyltransferase II deficiency; C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile; C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset