CDSP
MCID: CRN239
MIFTS: 56

Carnitine Deficiency, Systemic Primary (CDSP)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Carnitine Deficiency, Systemic Primary

MalaCards integrated aliases for Carnitine Deficiency, Systemic Primary:

Name: Carnitine Deficiency, Systemic Primary 57 13 40
Systemic Primary Carnitine Deficiency 24 53 59 74 37
Renal Carnitine Transport Defect 12 25 29 6 72
Carnitine Uptake Defect 57 12 24 53 25
Carnitine Transporter Deficiency 12 75 53 25
Systemic Carnitine Deficiency 57 75 25 44
Cdsp 57 24 59 74
Primary Carnitine Deficiency 12 53 25
Carnitine Uptake Deficiency 53 25 59
Cud 57 25 59
Carnitine Deficiency, Systemic, Due to Defect in Renal Reabsorption of Carnitine 57 53
Deficiency of Plasma-Membrane Carnitine Transporter 12 59
Systemic Primary Carnitine Deficiency Disease 12 15
Carnitine Deficiency, Primary 57 55
Carnitine Transporter, Plasma-Membrane, Deficiency of 57
Carnitine Plasma-Membrane Transporter Deficiency 53
Systemic Carnitine Deficiency; Scd 57
Carnitine Uptake Defect; Cud 57
Carnitine Transporter Defect 59
Carnitine Transport Defect 24
Spcd 59
Scd 57

Characteristics:

Orphanet epidemiological data:

59
systemic primary carnitine deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (United States),1-9/100000 (Japan),1-9/1000000 (Australia),6-9/10000 (Faroe Islands),>1/1000 (Faroe Islands); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
two main presentations
onset in infancy of acute hypoglycemic episodes
onset in childhood (1 to 7 years) of progressive cardiomyopathy and muscle weakness
carnitine supplementation can prevent further episodes and declines in cardiac function


HPO:

32
carnitine deficiency, systemic primary:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:14365
OMIM 57 212140
KEGG 37 H01589
ICD9CM 35 277.81
MeSH 44 C536778
NCIt 50 C98864
SNOMED-CT 68 21764004
ICD10 33 E71.41
ICD10 via Orphanet 34 E71.3
UMLS via Orphanet 73 C0342788
Orphanet 59 ORPHA158
MedGen 42 C0342788
UMLS 72 C0342788

Summaries for Carnitine Deficiency, Systemic Primary

Genetics Home Reference : 25 Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. Signs and symptoms of primary carnitine deficiency typically appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), a weakened and enlarged heart (cardiomyopathy), confusion, vomiting, muscle weakness, and low blood sugar (hypoglycemia). The severity of this condition varies among affected individuals. Some people with primary carnitine deficiency are asymptomatic, which means they do not have any signs or symptoms of the condition. All individuals with this disorder are at risk for heart failure, liver problems, coma, and sudden death. Problems related to primary carnitine deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.

MalaCards based summary : Carnitine Deficiency, Systemic Primary, also known as systemic primary carnitine deficiency, is related to atrial standstill 1 and crohn's disease, and has symptoms including muscle weakness An important gene associated with Carnitine Deficiency, Systemic Primary is SLC22A5 (Solute Carrier Family 22 Member 5), and among its related pathways/superpathways are Phospholipase D signaling pathway and Mitochondrial LC-Fatty Acid Beta-Oxidation. The drugs carnitine and Nitroprusside have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and brain, and related phenotypes are hepatomegaly and vomiting

Disease Ontology : 12 An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.

NIH Rare Diseases : 53 Primary carnitine deficiency is a genetic condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The nature and severity of signs and symptoms may vary, but they most often appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), cardiomyopathy, confusion, vomiting, muscle weakness, and hypoglycemia. Some individuals may only have fatigability in adulthood, or no symptoms at all. This condition is caused by mutations in the SLC22A5 gene and is inherited in an autosomal recessive manner. Treatment and prevention of symptoms typically includes oral L-carnitine supplementation.

OMIM : 57 Primary systemic carnitine deficiency is due to a defect in the high-affinity carnitine transporter expressed in muscle, heart, kidney, lymphoblasts, and fibroblasts. This results in impaired fatty acid oxidation in skeletal and heart muscle. In addition, renal wasting of carnitine results in low serum levels and diminished hepatic uptake of carnitine by passive diffusion, which impairs ketogenesis (Lamhonwah et al., 2002). If diagnosed early, all clinical manifestations of the disorder can be completely reversed by supplementation of carnitine. However, if left untreated, patients will develop lethal heart failure (summary by Shibbani et al., 2014). See also myopathic carnitine deficiency (212160), which is restricted to skeletal muscle. (212140)

KEGG : 37
Systemic primary carnitine deficiency is a rare autosomal recessive disorder characterized by cardiomyopathy, muscle weakness, hypoglycemic hypoketotic coma, and hyperammonemia. Carnitine plays essential roles in the transportation of long-chain fatty acids into the mitochondria for beta-oxidation. This disease is caused by mutations in SLC22A5 that encodes the high-affinity sodium-dependent carnitine transporter, organic cation transporter 2 (OCTN2). The hallmark of systemic primary carnitine deficiency is low concentrations of carnitine in plasma, with accumulation of lipid deposits and renal leakage of carnitine. The clinical symptoms are alleviated dramatically by oral administration of L-carnitine. However, if untreated, patients are precipitated into a crisis with cardiac arrest or Reye-like syndrome that includes acute encephalopathy and fatty degenerative liver failure.

UniProtKB/Swiss-Prot : 74 Systemic primary carnitine deficiency: Autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. Present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal myopathy or cardiomyopathy.

Wikipedia : 75 Systemic primary carnitine deficiency (SPCD), is an inborn error of fatty acid transport caused by a... more...

GeneReviews: NBK84551

Related Diseases for Carnitine Deficiency, Systemic Primary

Diseases related to Carnitine Deficiency, Systemic Primary via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 153, show less)
# Related Disease Score Top Affiliating Genes
1 atrial standstill 1 29.7 SLC22A5 ACADVL
2 crohn's disease 29.6 SLC22A5 SLC22A4
3 hypoglycemia 28.5 CPT2 ACADVL
4 sickle cell disease 12.4
5 schnyder corneal dystrophy 12.1
6 ehlers-danlos syndrome, spondylodysplastic type, 3 11.8
7 sickle cell anemia 11.8
8 cardiac conduction defect 11.6
9 hemoglobinopathy 11.6
10 qt interval, variation in 11.5
11 abdominal obesity-metabolic syndrome 1 11.4
12 diabetes mellitus, noninsulin-dependent 11.3
13 fanconi anemia, complementation group d2 11.3
14 body mass index quantitative trait locus 11 11.3
15 lipodystrophy, congenital generalized, type 3 11.3
16 lipodystrophy, congenital generalized, type 4 11.3
17 spondylocostal dysostosis 3, autosomal recessive 11.2
18 fanconi anemia, complementation group a 11.2
19 superior semicircular canal dehiscence 11.2
20 subacute cerebellar degeneration 11.2
21 obsolete: secondary ciliary dyskinesia 11.2
22 visceral steatosis 10.5
23 syncope 10.4
24 acute chest syndrome 10.3
25 renal oncocytoma 10.3
26 hemosiderosis 10.3
27 congestive heart failure 10.3
28 rare hereditary hemochromatosis 10.3
29 reye syndrome 10.3
30 encephalopathy 10.3
31 carbonic anhydrase va deficiency, hyperammonemia due to 10.3
32 thalassemia 10.2
33 heart disease 10.2
34 autosomal recessive disease 10.2
35 coronary heart disease 1 10.2
36 infertility 10.2
37 spinocerebellar degeneration 10.2
38 cardiac arrhythmia 10.1
39 colorectal cancer 10.1
40 beta-thalassemia 10.1
41 male infertility 10.1
42 spinal stenosis 10.1
43 avascular necrosis 10.1
44 inflammatory bowel disease 5 10.1 SLC22A5 SLC22A4
45 inflammatory bowel disease 1 10.0 SLC22A5 SLC22A4
46 sudden infant death syndrome 10.0
47 cardiac arrest 10.0
48 dilated cardiomyopathy 10.0
49 fatty liver disease 10.0
50 hypertrophic cardiomyopathy 10.0
51 muscular lipidosis 10.0
52 visual epilepsy 10.0
53 gastroenteritis 10.0
54 seizure disorder 10.0
55 hypercholesterolemia, familial, 1 9.9
56 leukemia, chronic lymphocytic 9.9
57 migraine with or without aura 1 9.9
58 papillomatosis, confluent and reticulated 9.9
59 thrombophilia due to thrombin defect 9.9
60 triiodothyronine receptor auxiliary protein 9.9
61 autism 9.9
62 proteasome-associated autoinflammatory syndrome 1 9.9
63 insulin-like growth factor i 9.9
64 ataxia and polyneuropathy, adult-onset 9.9
65 ventricular fibrillation, paroxysmal familial, 1 9.9
66 graft-versus-host disease 9.9
67 leptin deficiency or dysfunction 9.9
68 deficiency anemia 9.9
69 atrioventricular block 9.9
70 osteonecrosis 9.9
71 lymphocytic leukemia 9.9
72 bacterial infectious disease 9.9
73 rabies 9.9
74 graves' disease 9.9
75 ehlers-danlos syndrome 9.9
76 megaloblastic anemia 9.9
77 bacteriuria 9.9
78 azoospermia 9.9
79 hypothyroidism 9.9
80 viral hepatitis 9.9
81 hypogonadism 9.9
82 dermatitis 9.9
83 contact dermatitis 9.9
84 long qt syndrome 9.9
85 lipid metabolism disorder 9.9
86 ischemia 9.9
87 bone inflammation disease 9.9
88 middle ear disease 9.9
89 dystonia 9.9
90 hemolytic anemia 9.9
91 cerebrovascular disease 9.9
92 hypogonadotropism 9.9
93 end stage renal failure 9.9
94 peritonitis 9.9
95 vascular dementia 9.9
96 pulmonary embolism 9.9
97 systolic heart failure 9.9
98 47,xyy 9.9
99 cerebellar degeneration 9.9
100 chronic graft versus host disease 9.9
101 leukemia, b-cell, chronic 9.9
102 dementia - subcortical 9.9
103 tremor 9.9
104 hematopoietic stem cell transplantation 9.9
105 myopathy 9.9
106 glycogen storage disease iii 9.9
107 holocarboxylase synthetase deficiency 9.9
108 glycogen storage disease 9.9
109 multiple carboxylase deficiency 9.9
110 peripheral nervous system disease 9.9
111 neuropathy 9.9
112 citrullinemia, type ii, adult-onset 9.9
113 inherited metabolic disorder 9.9
114 endocardial fibroelastosis 9.8
115 ocular motor apraxia 9.8
116 fatty liver disease, nonalcoholic 1 9.8
117 metabolic acidosis 9.8
118 hemopericardium 9.8
119 pericardial effusion 9.8
120 hepatic coma 9.8
121 hepatic encephalopathy 9.8
122 lipomatosis 9.8
123 mediastinal lipomatosis 9.8
124 lipid storage disease 9.8
125 48,xyyy 9.8
126 hypotonia 9.8
127 posttransplant acute limbic encephalitis 9.8
128 inclusion myopathy 9.8
129 acyl-coa dehydrogenase deficiency 9.8
130 semicircular canal dehiscence syndrome 9.8
131 cleft palate, isolated 9.8
132 carnitine deficiency, myopathic 9.8
133 long chain fatty acids, defect in transport of 9.8
134 alacrima, achalasia, and mental retardation syndrome 9.8
135 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.8
136 autism spectrum disorder 9.8
137 organic acidemia 9.8
138 pre-eclampsia 9.8
139 mitral valve insufficiency 9.8
140 goiter 9.8
141 status epilepticus 9.8
142 hyperinsulinism 9.8
143 hepatitis 9.8
144 myocarditis 9.8
145 microcephaly 9.8
146 myoglobinuria, recurrent 9.6 CPT2 ACADVL
147 myoglobinuria 9.6 CPT2 ACADVL
148 3-hydroxyacyl-coa dehydrogenase deficiency 9.5 ETFDH ACADVL
149 acyl-coa dehydrogenase, very long-chain, deficiency of 9.5 CPT2 ACADVL
150 carnitine palmitoyltransferase i deficiency 9.5 CPT2 ACADVL
151 carnitine palmitoyltransferase ii deficiency, infantile 9.1 ETFDH CPT2 ACADVL
152 muscular disease 9.1 ETFDH CPT2 ACADVL
153 multiple acyl-coa dehydrogenase deficiency 8.8 SLC22A5 ETFDH CPT2 ACADVL

Graphical network of the top 20 diseases related to Carnitine Deficiency, Systemic Primary:



Diseases related to Carnitine Deficiency, Systemic Primary

Symptoms & Phenotypes for Carnitine Deficiency, Systemic Primary

Human phenotypes related to Carnitine Deficiency, Systemic Primary:

59 32 (showing 29, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
2 vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002013
3 elevated hepatic transaminase 59 32 hallmark (90%) Very frequent (99-80%) HP:0002910
4 confusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0001289
5 generalized tonic-clonic seizures with focal onset 59 32 hallmark (90%) Very frequent (99-80%) HP:0007334
6 clumsiness 59 32 hallmark (90%) Very frequent (99-80%) HP:0002312
7 neck muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000467
8 acute encephalopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0006846
9 muscle weakness 59 32 Very frequent (99-80%) HP:0001324
10 muscular hypotonia 32 HP:0001252
11 failure to thrive 32 HP:0001508
12 myopathy 32 HP:0003198
13 cardiomegaly 32 HP:0001640
14 hypertrophic cardiomyopathy 32 HP:0001639
15 hypoglycemia 32 HP:0001943
16 generalized hypotonia 32 HP:0001290
17 congestive heart failure 32 HP:0001635
18 hepatic steatosis 32 HP:0001397
19 coma 32 HP:0001259
20 hyperammonemia 32 HP:0001987
21 lethargy 32 HP:0001254
22 encephalopathy 32 HP:0001298
23 recurrent hypoglycemia 32 HP:0001988
24 excessive daytime somnolence 32 HP:0001262
25 endocardial fibroelastosis 32 HP:0001706
26 decreased plasma carnitine 32 HP:0003234
27 impaired gluconeogenesis 32 HP:0005959
28 reduced muscle carnitine level 32 HP:0030362
29 decreased carnitine level in liver 32 HP:0045061

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscle weakness
hypotonia
muscle biopsy shows lipid deposition

Abdomen Liver:
hepatomegaly
steatosis

Laboratory Abnormalities:
hyperammonemia
abnormal liver enzymes
increased urinary carnitine
decreased carnitine in serum, muscle, heart, and liver
impaired carnitine uptake in muscle, heart, kidney, fibroblasts, and lymphocytes
more
Metabolic Features:
hypoketotic hypoglycemic episodes, acute

Growth Other:
failure to thrive

Cardiovascular Heart:
cardiomegaly
hypertrophic cardiomyopathy
congestive heart failure
fatty infiltration of heart muscle

Neurologic Central Nervous System:
lethargy associated with hypoglycemia
encephalopathy associated with hypoglycemia
coma associated with hypoglycemia
reye syndrome
delay in gross motor development due to weakness

Clinical features from OMIM:

212140

UMLS symptoms related to Carnitine Deficiency, Systemic Primary:


muscle weakness

Drugs & Therapeutics for Carnitine Deficiency, Systemic Primary

DrugBank drugs 16 :

(showing 1, show less)
# Drug Name Indication DrugBank ID
1 Levocarnitine For treatment of primary systemic carnitine deficiency, a genetic impairment of normal biosynthesis or utilization of levocarnitine from dietary sources, or for the treatment of secondary carnitine deficiency resulting from an inborn error of metabolism such as glutaric aciduria II, methyl malonic aciduria, propionic acidemia, and medium chain fatty acylCoA dehydrogenase deficiency. Used therapeutically to stimulate gastric and pancreatic secretions and in the treatment of hyperlipoproteinemias. Parenteral levocarnitine is indicated for the prevention and treatment of carnitine deficiency in patients with end-stage renal disease. DB00583

Drugs for Carnitine Deficiency, Systemic Primary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 34, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 carnitine Phase 2, Phase 3
2
Nitroprusside Approved, Investigational Phase 2 15078-28-1 11963622
3
Nitric Oxide Approved Phase 2 10102-43-9 145068
4
Vortioxetine Approved, Investigational Phase 2 508233-74-7 9966051
5
Simvastatin Approved Phase 2 79902-63-9 54454
6
Lithium carbonate Approved Phase 2 554-13-2
7
Isradipine Approved, Investigational Phase 2 75695-93-1 3784
8
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
9
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
10 Nitric Oxide Donors Phase 2
11 Serotonin Uptake Inhibitors Phase 2
12 Antidepressive Agents Phase 2
13 Neurotransmitter Agents Phase 2
14 Serotonin Receptor Agonists Phase 2
15 Tranquilizing Agents Phase 2
16 Anti-Anxiety Agents Phase 2
17 Serotonin Antagonists Phase 2
18 Neurotransmitter Uptake Inhibitors Phase 2
19 Serotonin 5-HT3 Receptor Antagonists Phase 2
20 Serotonin 5-HT1 Receptor Agonists Phase 2
21 Serotonin Agents Phase 2
22 Central Nervous System Depressants Phase 2
23 Psychotropic Drugs Phase 2
24 Lipid Regulating Agents Phase 2
25 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
26 Hypolipidemic Agents Phase 2
27 Anticholesteremic Agents Phase 2
28 Antimetabolites Phase 2
29 Vasodilator Agents Phase 2
30 Antihypertensive Agents Phase 2
31 Hormones Phase 2
32 calcium channel blockers Phase 2
33 Calcium, Dietary Phase 2
34
Serotonin Investigational, Nutraceutical Phase 2 50-67-9 5202

Interventional clinical trials:

(showing 11, show less)
# Name Status NCT ID Phase Drugs
1 L-Carnitine Supplementation With and Without Health Coaching for Fatigue in Patients With Chronic Obstructive Pulmonary Disease (COPD) Completed NCT03008356 Phase 2, Phase 3
2 A Randomized Double-Blind, Placebo-Controlled, Proof of Concept Study of Intravenous Sodium Nitroprusside in Adults With Symptomatic Schizophrenia Completed NCT02164981 Phase 2 sodium nitroprusside
3 Interventional, Randomised, Double-blind, Placebo-controlled, Fixed-dose Study of Vortioxetine in Adults With Attention Deficit Hyperactivity Disorder (ADHD) Completed NCT02327013 Phase 2 vortioxetine 10 mg tablet;vortioxetine 20 mg tablet
4 Triheptanoin's Effect on Fatty Acid Oxidation and Exercise Tolerance in Patients With Debrancher Deficiency, Glycogenin-1 Deficiency and Phosphofructoinase Deficiency at Rest and During Exercise. A Randomized, Double-blind, Placebo-controlled, Cross-over Study Recruiting NCT03642860 Phase 2 Triheptanoin;Placebo Oil
5 Simvastatin Augmentation of Lithium Treatment in Bipolar Depression Terminated NCT01665950 Phase 2 Simvastatin;Placebo
6 An 8-week, Randomized, Phase 2, Double-blind, Sequential Parallel-group Comparison Study Of Two Dose Levels Of Pf 06372865 Compared To Placebo As An Adjunctive Treatment In Outpatients With Inadequate Response To Standard Of Care For Generalized Anxiety Disorder Terminated NCT02310568 Phase 2 PF-06372865.
7 Adjunctive Isradipine for the Treatment of Bipolar Depression Terminated NCT01784666 Phase 2 Isradipine;Placebo
8 Fat and Carbohydrate Metabolism During Exercise, With and Without L-carnitine Supplementation in Patients With Carnitine Transporter Deficiency Completed NCT02226419
9 Effects of Parenteral L-carnitine Supplementation in Premature Neonates Completed NCT00841295 Parenteral L-carnitine supplementation;Parenteral supplementation with sterile water
10 Influence of OCTN2 Variants on Carnitine Status and Plasma Triglycerides Completed NCT00187733
11 Clinical, Randomized and Double-blind Controlled Trial of an Educational Therapeutic Intervention for Family Caregivers on the Psychological and Behavioral Symptoms of Dementias (PRESTA Study) Completed NCT03732521

Search NIH Clinical Center for Carnitine Deficiency, Systemic Primary

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Levocarnitine

Cochrane evidence based reviews: systemic carnitine deficiency

Genetic Tests for Carnitine Deficiency, Systemic Primary

Genetic tests related to Carnitine Deficiency, Systemic Primary:

# Genetic test Affiliating Genes
1 Renal Carnitine Transport Defect 29 SLC22A5

Anatomical Context for Carnitine Deficiency, Systemic Primary

MalaCards organs/tissues related to Carnitine Deficiency, Systemic Primary:

41
Liver, Heart, Brain, Kidney, Skeletal Muscle, Skin, Small Intestine

Publications for Carnitine Deficiency, Systemic Primary

Articles related to Carnitine Deficiency, Systemic Primary:

(showing 89, show less)
# Title Authors PMID Year
1
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. 9 38 4 8 71
20027113 2010
2
Phenotype and genotype variation in primary carnitine deficiency. 9 4 8 71
11715001 2001
3
Exclusive cardiac dysfunction in familial primary carnitine deficiency cases: a genotype-phenotype correlation. 8 71
17594400 2007
4
OCTN2 mutation (R254X) found in Saudi Arabian kindred: recurrent mutation or ancient founder mutation? 8 71
15303004 2004
5
Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency. 9 4 8
10545605 1999
6
Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. 8 71
9916797 1999
7
Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene. 8 71
9826541 1998
8
Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q. 8 71
9634512 1998
9
Dilated cardiomyopathy caused by plasma membrane carnitine transport defect. 8 71
9700603 1998
10
Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy. 8 71
2235122 1990
11
Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy. 8 71
3974805 1985
12
Expanded newborn screening identifies maternal primary carnitine deficiency. 4 8
17126586 2007
13
Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency. 9 38 71
10072434 1999
14
Systemic Primary Carnitine Deficiency 38 71
22420015 2012
15
Pharmacological rescue of carnitine transport in primary carnitine deficiency. 9 8
16652335 2006
16
A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients. 9 71
12204000 2002
17
Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality. 38 71
10425211 1999
18
Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency. 9 71
10051646 1999
19
Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype. 8
23379544 2014
20
Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management. 38 4
22989098 2012
21
Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. 38 4
20574985 2010
22
Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. 71
15714519 2005
23
Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy. 8
12210323 2002
24
Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation. 71
11058897 2000
25
Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency. 71
10480371 1999
26
Defective urinary carnitine transport in heterozygotes for primary carnitine deficiency. 8
11261427 1998
27
A missense mutation of mouse OCTN2, a sodium-dependent carnitine cotransporter, in the juvenile visceral steatosis mouse. 8
9837751 1998
28
Primary plasmalemmal carnitine transporter defect manifested with dicarboxylic aciduria and impaired fatty acid oxidation. 71
9700600 1998
29
Definition of the locus responsible for systemic carnitine deficiency within a 1.6-cM region of mouse chromosome 11 by detailed linkage analysis. 8
8660978 1996
30
Mapping of jvs (juvenile visceral steatosis) gene, which causes systemic carnitine deficiency in mice, on chromosome 11. 8
7626891 1995
31
Primary defect of juvenile visceral steatosis (jvs) mouse with systemic carnitine deficiency is probably in renal carnitine transport system. 8
8155735 1994
32
Cardiac hypertrophy in juvenile visceral steatosis (jvs) mice with systemic carnitine deficiency. 8
8325377 1993
33
Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. 8
1763895 1991
34
Primary carnitine deficiency: heterozygote and intrafamilial phenotypic variation. 8
1922823 1991
35
Primary carnitine deficiency. 71
2199596 1990
36
Transport of carnitine into cells in hereditary carnitine deficiency. 8
2502670 1989
37
Cardiomyopathy associated with carnitine loss in kidneys and small intestine. 71
3215194 1988
38
Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts. 8
3185635 1988
39
Abnormalities of fatty acid oxidation. 8
3185637 1988
40
Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts. 8
3181209 1988
41
Infantile disease with microvesicular fatty infiltration of viscera spontaneously occurring in the C3H-H-2(0) strain of mouse with similarities to Reye's syndrome. 8
3352223 1988
42
Familial systemic carnitine deficiency. 8
4062610 1985
43
Familial systemic carnitine deficiency. 8
6696649 1984
44
Systemic carnitine deficiency exacerbated by a strict vegetarian diet. 8
6703771 1984
45
Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport. 8
7131143 1982
46
Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy. 8
7254270 1981
47
Primary systemic carnitine deficiency: I. Carnitine biosynthesis. 8
6787460 1981
48
Primary systemic carnitine deficiency. II. Renal handling of carnitine. 8
7195503 1981
49
Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome. 8
7432384 1980
50
Systemic carnitine deficiency. 8
7432389 1980
51
Muscle carnitine deficiency and fatal cardiomyopathy. 8
563997 1978
52
The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features. 8
234182 1975
53
Disorders of carnitine biosynthesis and transport. 4
26385306 2015
54
Gestational age and age at sampling influence metabolic profiles in premature infants. 4
24913786 2014
55
Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands. 4
23653224 2014
56
Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report. 4
23430858 2012
57
Genotype-phenotype correlation in primary carnitine deficiency. 4
21922592 2012
58
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. 4
20074989 2010
59
Role of carnitine in disease. 4
20398344 2010
60
Cardiomyopathy and carnitine deficiency. 4
18337137 2008
61
Carnitine membrane transporter deficiency: a rare treatable cause of cardiomyopathy and anemia. 4
17926086 2008
62
A case of early diagnosed carnitine deficiency presenting with respiratory symptoms. 4
17726310 2007
63
Disorders of carnitine transport and the carnitine cycle. 4
16602102 2006
64
Screening newborns for inborn errors of metabolism by tandem mass spectrometry. 4
12788994 2003
65
Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2. 4
14605509 2003
66
First Case Report of Primary Carnitine Deficiency Manifested as Intellectual Disability and Autism Spectrum Disorder. 38
31200524 2019
67
Primary carnitine deficiency with severe acute hepatitis following rotavirus gastroenteritis. 38
31189503 2019
68
A newborn with seizures born to a mother diagnosed with primary carnitine deficiency. 38
30885166 2019
69
SLC22A5 Mutations in a Patient With Systemic Primary Carnitine Deficiency and Cleft Palate-Successful Perioperative Management. 38
29750726 2018
70
Primary carnitine deficiency in a 57-year-old patient with recurrent exertional rhabdomyolysis. 38
29895548 2018
71
A case of atypical systemic primary carnitine deficiency in Saudi Arabia. 38
30069296 2018
72
Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California. 38
28711408 2017
73
[Mutational analysis of SLC22A5 gene in eight patients with systemic primary carnitine deficiency]. 38
28186590 2017
74
Primary Carnitine Deficiency - A Rare Treatable Cause of Cardiomyopathy and Massive Hepatomegaly. 38
27581592 2017
75
Systemic primary carnitine deficiency with hypoglycemic encephalopathy. 38
28164076 2016
76
Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up. 38
26030785 2015
77
Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency. 38
25132046 2014
78
SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation. 38
23090741 2012
79
Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on L-carnitine supplementation. 38
20095986 2010
80
Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency. 9
17703373 2007
81
Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). 9
16931768 2006
82
Expression and distribution of OCTN2 in mouse epididymis and its association with obstructive azoospermia in juvenile visceral steatosis mice. 9
16734862 2006
83
[The human OCTN2 carnitine transporter and its mutations]. 9
15125318 2004
84
[Biopharmaceutical studies on molecular mechanisms of membrane transport]. 9
12510384 2002
85
Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency. 9
12408185 2002
86
Mitochondrial fatty acid oxidation disorders in Thai infants: a report of 3 cases. 38
12403251 2002
87
Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency. 9
10612840 2000
88
Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function. 9
10559218 1999
89
Characteristics of L-carnitine transport in cultured human hepatoma HLF cells. 9
10504033 1999

Variations for Carnitine Deficiency, Systemic Primary

ClinVar genetic disease variations for Carnitine Deficiency, Systemic Primary:

6 (showing 310, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC22A5 NM_003060.4(SLC22A5): c.1252C> T (p.Gln418Ter) single nucleotide variant Pathogenic rs1057518297 5:131726581-131726581 5:132390889-132390889
2 SLC22A5 NM_003060.4(SLC22A5): c.1188T> G (p.Tyr396Ter) single nucleotide variant Pathogenic rs1057519051 5:131726517-131726517 5:132390825-132390825
3 SLC22A5 NM_003060.4(SLC22A5): c.755del (p.Phe252fs) deletion Pathogenic rs1554087491 5:131721122-131721122 5:132385430-132385430
4 SLC22A5 NM_003060.4(SLC22A5): c.1172G> A (p.Trp391Ter) single nucleotide variant Pathogenic rs1554088165 5:131726501-131726501 5:132390809-132390809
5 SLC22A5 NM_003060.4(SLC22A5): c.881del (p.Glu294fs) deletion Pathogenic rs1554087719 5:131722773-131722773 5:132387081-132387081
6 SLC22A5 NM_003060.4(SLC22A5): c.1411C> T (p.Arg471Cys) single nucleotide variant Pathogenic rs749282641 5:131728268-131728268 5:132392576-132392576
7 SLC22A5 NM_003060.4(SLC22A5): c.361C> T (p.Gln121Ter) single nucleotide variant Pathogenic rs1554086010 5:131706025-131706025 5:132370333-132370333
8 SLC22A5 SLC22A5, 113-BP DEL deletion Pathogenic
9 SLC22A5 SLC22A5, 1-BP INS, 226C insertion Pathogenic
10 SLC22A5 SLC22A5, IVS8AS, G-A, -1 single nucleotide variant Pathogenic
11 SLC22A5 SLC22A5, 1394-BP DEL deletion Pathogenic
12 SLC22A5 NM_003060.4(SLC22A5): c.653_654insTATGGCCATCAGGTTGGAG (p.Thr219fs) insertion Pathogenic
13 SLC22A5 NM_003060.3: c.654_825del deletion Pathogenic
14 SLC22A5 NM_003060.4(SLC22A5): c.844C> T (p.Arg282Ter) single nucleotide variant Pathogenic rs121908886 5:131722736-131722736 5:132387044-132387044
15 SLC22A5 NM_003060.4(SLC22A5): c.760C> T (p.Arg254Ter) single nucleotide variant Pathogenic rs121908893 5:131721127-131721127 5:132385435-132385435
16 SLC22A5 NM_003060.4(SLC22A5): c.1304del (p.Gly435fs) deletion Pathogenic rs386134217 5:131728161-131728161 5:132392469-132392469
17 SLC22A5 NM_003060.4(SLC22A5): c.1433C> T (p.Pro478Leu) single nucleotide variant Pathogenic rs72552735 5:131728290-131728290 5:132392598-132392598
18 SLC22A5 NM_003060.4(SLC22A5): c.1051T> C (p.Trp351Arg) single nucleotide variant Pathogenic rs68018207 5:131724712-131724712 5:132389020-132389020
19 SLC22A5 NM_003060.4(SLC22A5): c.1196G> A (p.Arg399Gln) single nucleotide variant Pathogenic rs121908891 5:131726525-131726525 5:132390833-132390833
20 SLC22A5 NM_003060.4(SLC22A5): c.12C> G (p.Tyr4Ter) single nucleotide variant Pathogenic rs72552722 5:131705676-131705676 5:132369984-132369984
21 SLC22A5 NM_003060.4(SLC22A5): c.64_66TTC[1] (p.Phe23del) short repeat Pathogenic rs377767444 5:131705731-131705733 5:132370039-132370041
22 SLC22A5 NM_003060.4(SLC22A5): c.95A> G (p.Asn32Ser) single nucleotide variant Pathogenic rs72552725 5:131705759-131705759 5:132370067-132370067
23 SLC22A5 NM_003060.4(SLC22A5): c.652+1G> A single nucleotide variant Pathogenic rs386134200 5:131719994-131719994 5:132384302-132384302
24 SLC22A5 NM_003060.4(SLC22A5): c.844del (p.Arg282fs) deletion Pathogenic rs386134209 5:131722731-131722731 5:132387039-132387039
25 SLC22A5 NM_003060.4(SLC22A5): c.845G> A (p.Arg282Gln) single nucleotide variant Pathogenic rs386134210 5:131722737-131722737 5:132387045-132387045
26 SLC22A5 NM_003060.4(SLC22A5): c.865C> T (p.Arg289Ter) single nucleotide variant Pathogenic rs386134212 5:131722757-131722757 5:132387065-132387065
27 SLC22A5 NM_003060.4(SLC22A5): c.1412G> A (p.Arg471His) single nucleotide variant Pathogenic rs386134223 5:131728269-131728269 5:132392577-132392577
28 SLC22A5 NM_003060.4(SLC22A5): c.254_264dup (p.Ile89fs) duplication Pathogenic rs377767449 5:131705918-131705928 5:132370226-132370236
29 SLC22A5 NM_003060.4(SLC22A5): c.1365dup (p.Thr456fs) duplication Pathogenic rs878853248 5:131728222-131728222 5:132392530-132392530
30 SLC22A5 NM_003060.4(SLC22A5): c.845dup (p.Trp283fs) duplication Pathogenic 5:131722737-131722737 5:132387045-132387045
31 SLC22A5 NM_003060.4(SLC22A5): c.1158del (p.Tyr387fs) deletion Pathogenic 5:131726487-131726487 5:132390795-132390795
32 SLC22A5 NC_000005.9: g.(?_131719819)_(131728327_?)del deletion Pathogenic 5:131719819-131728327 5:132384127-132392635
33 SLC22A5 NM_003060.4(SLC22A5): c.338G> A (p.Cys113Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs727504159 5:131706002-131706002 5:132370310-132370310
34 SLC22A5 NM_003060.4(SLC22A5): c.136C> T (p.Pro46Ser) single nucleotide variant Pathogenic/Likely pathogenic rs202088921 5:131705800-131705800 5:132370108-132370108
35 SLC22A5 NM_003060.4(SLC22A5): c.1400C> G (p.Ser467Cys) single nucleotide variant Pathogenic/Likely pathogenic rs60376624 5:131728257-131728257 5:132392565-132392565
36 SLC22A5 NM_003060.4(SLC22A5): c.1340A> G (p.Tyr447Cys) single nucleotide variant Pathogenic/Likely pathogenic rs386134218 5:131728197-131728197 5:132392505-132392505
37 SLC22A5 NM_003060.4(SLC22A5): c.1556_1557AC[4] (p.Ile521fs) short repeat Pathogenic/Likely pathogenic rs386134225 5:131729473-131729476 5:132393781-132393784
38 SLC22A5 NM_003060.4(SLC22A5): c.1175_1177TGC[2] (p.Leu394del) short repeat Pathogenic/Likely pathogenic rs386134215 5:131726510-131726512 5:132390818-132390820
39 SLC22A5 NM_003060.4(SLC22A5): c.1193C> T (p.Pro398Leu) single nucleotide variant Pathogenic/Likely pathogenic rs144547521 5:131726522-131726522 5:132390830-132390830
40 SLC22A5 NM_003060.4(SLC22A5): c.1319C> T (p.Thr440Met) single nucleotide variant Pathogenic/Likely pathogenic rs72552732 5:131728176-131728176 5:132392484-132392484
41 SLC22A5 NM_003060.4(SLC22A5): c.456_457TG[1] (p.Val153fs) short repeat Pathogenic/Likely pathogenic rs386134195 5:131714134-131714135 5:132378442-132378443
42 SLC22A5 NM_003060.4(SLC22A5): c.695C> T (p.Thr232Met) single nucleotide variant Pathogenic/Likely pathogenic rs114269482 5:131721062-131721062 5:132385370-132385370
43 SLC22A5 NM_003060.4(SLC22A5): c.806del (p.Leu269fs) deletion Pathogenic/Likely pathogenic rs386134204 5:131721173-131721173 5:132385481-132385481
44 SLC22A5 NM_003060.4(SLC22A5): c.51C> G (p.Phe17Leu) single nucleotide variant Pathogenic/Likely pathogenic rs11568520 5:131705715-131705715 5:132370023-132370023
45 SLC22A5 NM_003060.4(SLC22A5): c.506G> A (p.Arg169Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908889 5:131719847-131719847 5:132384155-132384155
46 SLC22A5 NM_003060.4(SLC22A5): c.505C> T (p.Arg169Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121908890 5:131719846-131719846 5:132384154-132384154
47 SLC22A5 NM_003060.4(SLC22A5): c.248G> T (p.Arg83Leu) single nucleotide variant Pathogenic/Likely pathogenic rs72552726 5:131705912-131705912 5:132370220-132370220
48 SLC22A5 NM_003060.4(SLC22A5): c.424G> T (p.Ala142Ser) single nucleotide variant Pathogenic/Likely pathogenic rs151231558 5:131714100-131714100 5:132378408-132378408
49 SLC22A5 NM_003060.4(SLC22A5): c.1195C> T (p.Arg399Trp) single nucleotide variant Pathogenic/Likely pathogenic rs267607054 5:131726524-131726524 5:132390832-132390832
50 SLC22A5 NM_003060.4(SLC22A5): c.1324_1325delinsAT (p.Ala442Ile) indel Pathogenic/Likely pathogenic rs267607053 5:131728181-131728182 5:132392489-132392490
51 SLC22A5 NM_003060.4(SLC22A5): c.43G> T (p.Gly15Trp) single nucleotide variant Pathogenic/Likely pathogenic rs267607052 5:131705707-131705707 5:132370015-132370015
52 SLC22A5 NM_003060.3(SLC22A5): c.1202dupA (p.Tyr401Terfs) duplication Pathogenic/Likely pathogenic rs121908887 5:131726531-131726531 5:132390839-132390839
53 SLC22A5 NM_003060.4(SLC22A5): c.396G> A (p.Trp132Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72552727 5:131714072-131714072 5:132378380-132378380
54 SLC22A5 NM_003060.4(SLC22A5): c.680G> A (p.Arg227His) single nucleotide variant Pathogenic/Likely pathogenic rs185551386 5:131721047-131721047 5:132385355-132385355
55 SLC22A5 NM_003060.4(SLC22A5): c.71del (p.Leu24fs) deletion Pathogenic/Likely pathogenic rs775502377 5:131705735-131705735 5:132370043-132370043
56 SLC22A5 NM_003060.4(SLC22A5): c.428C> T (p.Pro143Leu) single nucleotide variant Likely pathogenic rs1178584184 5:131714104-131714104 5:132378412-132378412
57 SLC22A5 NM_003060.4(SLC22A5): c.160_166dup (p.Ala56fs) duplication Likely pathogenic rs1057516797 5:131705824-131705830 5:132370132-132370138
58 SLC22A5 NM_003060.4(SLC22A5): c.393+1G> A single nucleotide variant Likely pathogenic rs1057517069 5:131706058-131706058 5:132370366-132370366
59 SLC22A5 NM_003060.4(SLC22A5): c.394-1G> T single nucleotide variant Likely pathogenic rs1057517106 5:131714069-131714069 5:132378377-132378377
60 SLC22A5 NM_003060.4(SLC22A5): c.491C> G (p.Ser164Ter) single nucleotide variant Likely pathogenic rs1057516765 5:131714167-131714167 5:132378475-132378475
61 SLC22A5 NM_003060.4(SLC22A5): c.498-1G> C single nucleotide variant Likely pathogenic rs747592919 5:131719838-131719838 5:132384146-132384146
62 SLC22A5 NM_003060.4(SLC22A5): c.825-1G> C single nucleotide variant Likely pathogenic rs1057516805 5:131722716-131722716 5:132387024-132387024
63 SLC22A5 NM_003060.4(SLC22A5): c.1455dup (p.Tyr486fs) duplication Likely pathogenic rs1057517306 5:131729372-131729372 5:132393680-132393680
64 SLC22A5 NM_003060.4(SLC22A5): c.1458C> G (p.Tyr486Ter) single nucleotide variant Likely pathogenic rs763224132 5:131729375-131729375 5:132393683-132393683
65 SLC22A5 NM_003060.4(SLC22A5): c.1547del (p.Pro516fs) deletion Likely pathogenic rs761090705 5:131729464-131729464 5:132393772-132393772
66 SLC22A5 NM_003060.4(SLC22A5): c.1587-2A> G single nucleotide variant Likely pathogenic rs1057516402 5:131729875-131729875 5:132394183-132394183
67 SLC22A5 NM_003060.4(SLC22A5): c.1587-1G> C single nucleotide variant Likely pathogenic rs766398620 5:131729876-131729876 5:132394184-132394184
68 SLC22A5 NM_003060.4(SLC22A5): c.1250dup (p.Met417fs) duplication Likely pathogenic rs781330134 5:131726579-131726579 5:132390887-132390887
69 SLC22A5 NM_003060.4(SLC22A5): c.614T> G (p.Met205Arg) single nucleotide variant Likely pathogenic rs796052033 5:131719955-131719955 5:132384263-132384263
70 SLC22A5 NM_003060.4(SLC22A5): c.2T> G (p.Met1Arg) single nucleotide variant Likely pathogenic rs1554085885 5:131705666-131705666 5:132369974-132369974
71 SLC22A5 NM_003060.4(SLC22A5): c.185G> A (p.Trp62Ter) single nucleotide variant Likely pathogenic rs1554085942 5:131705849-131705849 5:132370157-132370157
72 SLC22A5 NM_003060.4(SLC22A5): c.1458C> A (p.Tyr486Ter) single nucleotide variant Likely pathogenic rs763224132 5:131729375-131729375 5:132393683-132393683
73 SLC22A5 NM_003060.4(SLC22A5): c.13del (p.Asp5fs) deletion Likely pathogenic rs1554085892 5:131705676-131705677 5:132369985-132369985
74 SLC22A5 NM_003060.4(SLC22A5): c.52del (p.Gln18fs) deletion Likely pathogenic rs1022453298 5:131705714-131705715 5:132370024-132370024
75 SLC22A5 NM_003060.4(SLC22A5): c.391G> T (p.Glu131Ter) single nucleotide variant Likely pathogenic rs1321705165 5:131706055-131706055 5:132370363-132370363
76 SLC22A5 NM_003060.4(SLC22A5): c.1052+1G> T single nucleotide variant Likely pathogenic rs1554087949 5:131724714-131724714 5:132389022-132389022
77 SLC22A5 NM_003060.4(SLC22A5): c.1267+1G> A single nucleotide variant Likely pathogenic rs1554088200 5:131726597-131726597 5:132390905-132390905
78 SLC22A5 NM_003060.4(SLC22A5): c.1A> T (p.Met1Leu) single nucleotide variant Likely pathogenic rs774971089 5:131705665-131705665 5:132369973-132369973
79 SLC22A5 NM_003060.4(SLC22A5): c.137del (p.Pro46fs) deletion Likely pathogenic rs762986044 5:131705797-131705798 5:132370109-132370109
80 SLC22A5 NM_003060.4(SLC22A5): c.252C> G (p.Tyr84Ter) single nucleotide variant Likely pathogenic rs1253026669 5:131705916-131705916 5:132370224-132370224
81 SLC22A5 NM_003060.4(SLC22A5): c.952-2A> G single nucleotide variant Likely pathogenic rs1554087913 5:131724611-131724611 5:132388919-132388919
82 SLC22A5 NM_003060.4(SLC22A5): c.1554del (p.Asp519fs) deletion Likely pathogenic rs1554088578 5:131729470-131729471 5:132393779-132393779
83 SLC22A5 NM_003060.4(SLC22A5): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs774971089 5:131705665-131705665 5:132369973-132369973
84 SLC22A5 NM_003060.4(SLC22A5): c.252_265dup (p.Ile89fs) duplication Likely pathogenic rs1554085973 5:131705914-131705914 5:132370224-132370237
85 SLC22A5 NM_003060.4(SLC22A5): c.632A> G (p.Tyr211Cys) single nucleotide variant Likely pathogenic rs121908888 5:131719973-131719973 5:132384281-132384281
86 SLC22A5 NM_003060.4(SLC22A5): c.3G> T (p.Met1Ile) single nucleotide variant Likely pathogenic rs121908892 5:131705667-131705667 5:132369975-132369975
87 SLC22A5 NM_003060.4(SLC22A5): c.-91_22del (p.Met1fs) deletion Likely pathogenic rs1554085861 5:131705574-131705686 5:132369882-132369994
88 SLC22A5 NM_003060.4(SLC22A5): c.453G> A (p.Val151=) single nucleotide variant Likely pathogenic rs386134194 5:131714129-131714129 5:132378437-132378437
89 SLC22A5 NM_003060.4(SLC22A5): c.653-2A> C single nucleotide variant Likely pathogenic rs386134201 5:131721018-131721018 5:132385326-132385326
90 SLC22A5 NM_003060.4(SLC22A5): c.1451-1G> A single nucleotide variant Likely pathogenic rs386134224 5:131729367-131729367 5:132393675-132393675
91 SLC22A5 NM_003060.4(SLC22A5): c.1403C> G (p.Thr468Arg) single nucleotide variant Likely pathogenic rs386134221 5:131728260-131728260 5:132392568-132392568
92 SLC22A5 NM_003060.4(SLC22A5): c.659A> T (p.Glu220Val) single nucleotide variant Likely pathogenic rs878853249 5:131721026-131721026 5:132385334-132385334
93 SLC22A5 NM_003060.4(SLC22A5): c.148del (p.Cys50fs) deletion Likely pathogenic rs386134227 5:131705812-131705812 5:132370120-132370120
94 SLC22A5 NM_003060.4(SLC22A5): c.394-141T> C single nucleotide variant Likely pathogenic 5:131713929-131713929 5:132378237-132378237
95 SLC22A5 NM_003060.4(SLC22A5): c.523G> A (p.Val175Met) single nucleotide variant Conflicting interpretations of pathogenicity rs781721860 5:131719864-131719864 5:132384172-132384172
96 SLC22A5 NM_003060.4(SLC22A5): c.1377A> G (p.Arg459=) single nucleotide variant Conflicting interpretations of pathogenicity rs142264458 5:131728234-131728234 5:132392542-132392542
97 SLC22A5 NM_003060.4(SLC22A5): c.1463G> A (p.Arg488His) single nucleotide variant Conflicting interpretations of pathogenicity rs28383481 5:131729380-131729380 5:132393688-132393688
98 SLC22A5 NM_003060.4(SLC22A5): c.1409C> T (p.Ser470Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs386134222 5:131728266-131728266 5:132392574-132392574
99 SLC22A5 NM_003060.4(SLC22A5): c.1345T> G (p.Tyr449Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs11568514 5:131728202-131728202 5:132392510-132392510
100 SLC22A5 NM_003060.4(SLC22A5): c.1354G> A (p.Glu452Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs72552734 5:131728211-131728211 5:132392519-132392519
101 SLC22A5 NM_003060.4(SLC22A5): c.641C> T (p.Ala214Val) single nucleotide variant Conflicting interpretations of pathogenicity rs386134199 5:131719982-131719982 5:132384290-132384290
102 SLC22A5 NM_003060.4(SLC22A5): c.414C> T (p.Asp138=) single nucleotide variant Conflicting interpretations of pathogenicity rs150705788 5:131714090-131714090 5:132378398-132378398
103 SLC22A5 NM_003060.4(SLC22A5): c.364G> T (p.Asp122Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs201082652 5:131706028-131706028 5:132370336-132370336
104 SLC22A5 NM_003060.4(SLC22A5): c.451G> A (p.Val151Met) single nucleotide variant Conflicting interpretations of pathogenicity rs386134193 5:131714127-131714127 5:132378435-132378435
105 SLC22A5 NM_003060.4(SLC22A5): c.56G> C (p.Arg19Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs72552723 5:131705720-131705720 5:132370028-132370028
106 SLC22A5 NM_003060.4(SLC22A5): c.1185A> G (p.Gln395=) single nucleotide variant Conflicting interpretations of pathogenicity rs916795176 5:131726514-131726514 5:132390822-132390822
107 SLC22A5 NM_003060.4(SLC22A5): c.1078_1083dup (p.Gly360_Leu361dup) duplication Conflicting interpretations of pathogenicity rs896634334 5:131726407-131726412 5:132390715-132390720
108 SLC22A5 NM_003060.4(SLC22A5): c.529A> G (p.Met177Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145068530 5:131719870-131719870 5:132384178-132384178
109 SLC22A5 NM_003060.4(SLC22A5): c.1052+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs927950152 5:131724718-131724718 5:132389026-132389026
110 SLC22A5 NM_003060.4(SLC22A5): c.394-16T> A single nucleotide variant Conflicting interpretations of pathogenicity rs775097754 5:131714054-131714054 5:132378362-132378362
111 SLC22A5 NM_003060.4(SLC22A5): c.455G> A (p.Gly152Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs747821417 5:131714131-131714131 5:132378439-132378439
112 SLC22A5 NM_003060.4(SLC22A5): c.605T> C (p.Leu202Pro) single nucleotide variant Uncertain significance rs142447950 5:131719946-131719946 5:132384254-132384254
113 SLC22A5 NM_003060.4(SLC22A5): c.1219C> T (p.Leu407Phe) single nucleotide variant Uncertain significance rs754913053 5:131726548-131726548 5:132390856-132390856
114 SLC22A5 NM_003060.4(SLC22A5): c.818T> C (p.Leu273Pro) single nucleotide variant Uncertain significance rs760320629 5:131721185-131721185 5:132385493-132385493
115 SLC22A5 NM_003060.4(SLC22A5): c.592G> A (p.Val198Met) single nucleotide variant Uncertain significance rs757979350 5:131719933-131719933 5:132384241-132384241
116 SLC22A5 NM_003060.4(SLC22A5): c.791C> T (p.Thr264Met) single nucleotide variant Uncertain significance rs201262157 5:131721158-131721158 5:132385466-132385466
117 SLC22A5 NM_003060.4(SLC22A5): c.939T> A (p.Phe313Leu) single nucleotide variant Uncertain significance rs1554087737 5:131722831-131722831 5:132387139-132387139
118 SLC22A5 NM_003060.4(SLC22A5): c.43_45dup (p.Gly15dup) duplication Uncertain significance rs1554085901 5:131705704-131705704 5:132370015-132370017
119 SLC22A5 NM_003060.4(SLC22A5): c.1010C> T (p.Thr337Ile) single nucleotide variant Uncertain significance rs142479732 5:131724671-131724671 5:132388979-132388979
120 SLC22A5 NM_003060.4(SLC22A5): c.133A> G (p.Thr45Ala) single nucleotide variant Uncertain significance rs376438682 5:131705797-131705797 5:132370105-132370105
121 SLC22A5 NM_003060.4(SLC22A5): c.208C> T (p.Arg70Trp) single nucleotide variant Uncertain significance rs753453677 5:131705872-131705872 5:132370180-132370180
122 SLC22A5 NM_003060.4(SLC22A5): c.1225C> G (p.Leu409Val) single nucleotide variant Uncertain significance rs573330330 5:131726554-131726554 5:132390862-132390862
123 SLC22A5 NM_003060.4(SLC22A5): c.1586G> T (p.Gly529Val) single nucleotide variant Uncertain significance rs201307440 5:131729503-131729503 5:132393811-132393811
124 SLC22A5 NM_003060.4(SLC22A5): c.1403C> A (p.Thr468Lys) single nucleotide variant Uncertain significance rs386134221 5:131728260-131728260 5:132392568-132392568
125 SLC22A5 NM_003060.4(SLC22A5): c.-129_-102del deletion Uncertain significance rs1279199437 5:131705534-131705562 5:132369844-132369871
126 SLC22A5 NM_003060.4(SLC22A5): c.1462C> T (p.Arg488Cys) single nucleotide variant Uncertain significance rs377216516 5:131729379-131729379 5:132393687-132393687
127 SLC22A5 NM_003060.4(SLC22A5): c.944C> T (p.Pro315Leu) single nucleotide variant Uncertain significance rs200697217 5:131722836-131722836 5:132387144-132387144
128 SLC22A5 NM_003060.4(SLC22A5): c.1142T> C (p.Met381Thr) single nucleotide variant Uncertain significance rs149730454 5:131726471-131726471 5:132390779-132390779
129 SLC22A5 NM_003060.4(SLC22A5): c.1643G> A (p.Arg548Lys) single nucleotide variant Uncertain significance rs150775371 5:131729933-131729933 5:132394241-132394241
130 SLC22A5 NM_003060.4(SLC22A5): c.1238T> G (p.Val413Gly) single nucleotide variant Uncertain significance rs1224278173 5:131726567-131726567 5:132390875-132390875
131 SLC22A5 NM_003060.4(SLC22A5): c.272A> G (p.Asn91Ser) single nucleotide variant Uncertain significance rs546442503 5:131705936-131705936 5:132370244-132370244
132 SLC22A5 NM_003060.4(SLC22A5): c.653-10T> A single nucleotide variant Uncertain significance rs765335540 5:131721010-131721010 5:132385318-132385318
133 SLC22A5 NM_003060.4(SLC22A5): c.688T> C (p.Phe230Leu) single nucleotide variant Uncertain significance rs756650860 5:131721055-131721055 5:132385363-132385363
134 SLC22A5 NM_003060.4(SLC22A5): c.791C> G (p.Thr264Arg) single nucleotide variant Uncertain significance rs201262157 5:131721158-131721158 5:132385466-132385466
135 SLC22A5 NM_003060.4(SLC22A5): c.83G> T (p.Ser28Ile) single nucleotide variant Uncertain significance rs72552724 5:131705747-131705747 5:132370055-132370055
136 SLC22A5 NM_003060.4(SLC22A5): c.34G> A (p.Gly12Ser) single nucleotide variant Uncertain significance rs139203363 5:131705698-131705698 5:132370006-132370006
137 SLC22A5 NM_003060.4(SLC22A5): c.344A> G (p.Asp115Gly) single nucleotide variant Uncertain significance rs386134192 5:131706008-131706008 5:132370316-132370316
138 SLC22A5 NM_003060.4(SLC22A5): c.137C> T (p.Pro46Leu) single nucleotide variant Uncertain significance rs377767445 5:131705801-131705801 5:132370109-132370109
139 SLC22A5 NM_003060.4(SLC22A5): c.393+5G> A single nucleotide variant Uncertain significance rs1554086029 5:131706062-131706062 5:132370370-132370370
140 SLC22A5 NM_003060.4(SLC22A5): c.1139C> T (p.Ala380Val) single nucleotide variant Uncertain significance rs746187344 5:131726468-131726468 5:132390776-132390776
141 SLC22A5 NM_003060.4(SLC22A5): c.-131A> C single nucleotide variant Uncertain significance rs1554085854 5:131705534-131705534 5:132369842-132369842
142 SLC22A5 NM_003060.4(SLC22A5): c.1267+3_1267+24del deletion Uncertain significance rs1554088199 5:131726595-131726617 5:132390907-132390928
143 SLC22A5 NM_003060.4(SLC22A5): c.1674A> C (p.Ter558Tyr) single nucleotide variant Uncertain significance rs1554088647 5:131729964-131729964 5:132394272-132394272
144 SLC22A5 NM_003060.4(SLC22A5): c.865_867del (p.Arg289del) deletion Uncertain significance rs1554087707 5:131722754-131722757 5:132387065-132387067
145 SLC22A5 NM_003060.4(SLC22A5): c.412_414GAC[1] (p.Asp139del) short repeat Uncertain significance rs1554086841 5:131714087-131714090 5:132378399-132378401
146 SLC22A5 NM_003060.4(SLC22A5): c.800G> A (p.Gly267Glu) single nucleotide variant Uncertain significance rs775430253 5:131721167-131721167 5:132385475-132385475
147 SLC22A5 NM_003060.4(SLC22A5): c.535A> T (p.Met179Leu) single nucleotide variant Uncertain significance rs386134196 5:131719876-131719876 5:132384184-132384184
148 SLC22A5 NM_003060.4(SLC22A5): c.769C> T (p.Arg257Trp) single nucleotide variant Uncertain significance rs386134203 5:131721136-131721136 5:132385444-132385444
149 SLC22A5 NM_003060.4(SLC22A5): c.725G> T (p.Gly242Val) single nucleotide variant Uncertain significance rs72552728 5:131721092-131721092 5:132385400-132385400
150 SLC22A5 NM_003060.4(SLC22A5): c.761G> A (p.Arg254Gln) single nucleotide variant Uncertain significance rs200699819 5:131721128-131721128 5:132385436-132385436
151 SLC22A5 NM_003060.4(SLC22A5): c.1043T> C (p.Ile348Thr) single nucleotide variant Uncertain significance rs150544263 5:131724704-131724704 5:132389012-132389012
152 SLC22A5 NM_003060.4(SLC22A5): c.1088T> C (p.Leu363Pro) single nucleotide variant Uncertain significance rs386134214 5:131726417-131726417 5:132390725-132390725
153 SLC22A5 NM_003060.4(SLC22A5): c.692C> T (p.Ser231Phe) single nucleotide variant Uncertain significance rs386134206 5:131721059-131721059 5:132385367-132385367
154 SLC22A5 NM_003060.4(SLC22A5): c.557T> C (p.Leu186Pro) single nucleotide variant Uncertain significance rs386134197 5:131719898-131719898 5:132384206-132384206
155 SLC22A5 NM_003060.4(SLC22A5): c.629A> G (p.Asn210Ser) single nucleotide variant Uncertain significance rs386134198 5:131719970-131719970 5:132384278-132384278
156 SLC22A5 NM_003060.4(SLC22A5): c.1085C> T (p.Ser362Leu) single nucleotide variant Uncertain significance rs886042092 5:131726414-131726414 5:132390722-132390722
157 SLC22A5 NM_003060.4(SLC22A5): c.614T> A (p.Met205Lys) single nucleotide variant Uncertain significance rs796052033 5:131719955-131719955 5:132384263-132384263
158 SLC22A5 NM_003060.4(SLC22A5): c.1451G> T (p.Gly484Val) single nucleotide variant Uncertain significance rs28383480 5:131729368-131729368 5:132393676-132393676
159 SLC22A5 NM_003060.4(SLC22A5): c.1587-11T> G single nucleotide variant Uncertain significance rs772775759 5:131729866-131729866 5:132394174-132394174
160 SLC22A5 NM_003060.4(SLC22A5): c.*1062G> A single nucleotide variant Uncertain significance rs138469584 5:131731026-131731026 5:132395334-132395334
161 SLC22A5 NM_003060.4(SLC22A5): c.522C> T (p.Phe174=) single nucleotide variant Uncertain significance rs145350949 5:131719863-131719863 5:132384171-132384171
162 SLC22A5 NM_003060.4(SLC22A5): c.952-14T> C single nucleotide variant Uncertain significance rs373018486 5:131724599-131724599 5:132388907-132388907
163 SLC22A5 NM_003060.4(SLC22A5): c.*484G> A single nucleotide variant Uncertain significance rs760545883 5:131730448-131730448 5:132394756-132394756
164 SLC22A5 NM_003060.4(SLC22A5): c.-25C> T single nucleotide variant Uncertain significance rs886059907 5:131705640-131705640 5:132369948-132369948
165 SLC22A5 NM_003060.4(SLC22A5): c.763G> A (p.Asp255Asn) single nucleotide variant Uncertain significance rs774619135 5:131721130-131721130 5:132385438-132385438
166 SLC22A5 NM_003060.4(SLC22A5): c.980A> C (p.Gln327Pro) single nucleotide variant Uncertain significance rs886059908 5:131724641-131724641 5:132388949-132388949
167 SLC22A5 NM_003060.4(SLC22A5): c.*5G> A single nucleotide variant Uncertain significance rs554373076 5:131729969-131729969 5:132394277-132394277
168 SLC22A5 NM_003060.4(SLC22A5): c.*195G> T single nucleotide variant Uncertain significance rs886059910 5:131730159-131730159 5:132394467-132394467
169 SLC22A5 NM_003060.4(SLC22A5): c.*417T> A single nucleotide variant Uncertain significance rs886059911 5:131730381-131730381 5:132394689-132394689
170 SLC22A5 NM_003060.4(SLC22A5): c.*424T> C single nucleotide variant Uncertain significance rs886059912 5:131730388-131730388 5:132394696-132394696
171 SLC22A5 NM_003060.4(SLC22A5): c.*678G> T single nucleotide variant Uncertain significance rs148673968 5:131730642-131730642 5:132394950-132394950
172 SLC22A5 NM_003060.4(SLC22A5): c.*1020C> G single nucleotide variant Uncertain significance rs886059915 5:131730984-131730984 5:132395292-132395292
173 SLC22A5 NM_003060.4(SLC22A5): c.*1244C> T single nucleotide variant Uncertain significance rs184494469 5:131731208-131731208 5:132395516-132395516
174 SLC22A5 NM_003060.4(SLC22A5): c.-30G> C single nucleotide variant Uncertain significance rs758034537 5:131705635-131705635 5:132369943-132369943
175 SLC22A5 NM_003060.4(SLC22A5): c.1120G> A (p.Val374Met) single nucleotide variant Uncertain significance rs886059909 5:131726449-131726449 5:132390757-132390757
176 SLC22A5 NM_003060.4(SLC22A5): c.*654G> C single nucleotide variant Uncertain significance rs886059913 5:131730618-131730618 5:132394926-132394926
177 SLC22A5 NM_003060.4(SLC22A5): c.*956_*957insTA insertion Uncertain significance rs746348980 5:131730920-131730921 5:132395228-132395229
178 SLC22A5 NM_003060.4(SLC22A5): c.*960dup duplication Uncertain significance rs869272980 5:131730924-131730924 5:132395232-132395232
179 SLC22A5 NM_003060.4(SLC22A5): c.40T> A (p.Trp14Arg) single nucleotide variant Uncertain significance 5:131705704-131705704 5:132370012-132370012
180 SLC22A5 NM_003060.4(SLC22A5): c.538C> G (p.Gln180Glu) single nucleotide variant Uncertain significance 5:131719879-131719879 5:132384187-132384187
181 SLC22A5 NM_003060.4(SLC22A5): c.687_689del (p.Phe230del) deletion Uncertain significance 5:131721054-131721056 5:132385362-132385364
182 SLC22A5 NM_003060.4(SLC22A5): c.692C> G (p.Ser231Cys) single nucleotide variant Uncertain significance 5:131721059-131721059 5:132385367-132385367
183 SLC22A5 NM_003060.4(SLC22A5): c.706T> C (p.Cys236Arg) single nucleotide variant Uncertain significance 5:131721073-131721073 5:132385381-132385381
184 SLC22A5 NM_003060.4(SLC22A5): c.811G> A (p.Val271Met) single nucleotide variant Uncertain significance 5:131721178-131721178 5:132385486-132385486
185 SLC22A5 NM_003060.4(SLC22A5): c.990_1016del (p.Leu332_Ile340del) deletion Uncertain significance 5:131724651-131724677 5:132388959-132388985
186 SLC22A5 NM_003060.4(SLC22A5): c.1036A> G (p.Met346Val) single nucleotide variant Uncertain significance 5:131724697-131724697 5:132389005-132389005
187 SLC22A5 NM_003060.4(SLC22A5): c.242G> A (p.Cys81Tyr) single nucleotide variant Uncertain significance 5:131705906-131705906 5:132370214-132370214
188 SLC22A5 NM_003060.4(SLC22A5): c.265A> G (p.Ile89Val) single nucleotide variant Uncertain significance 5:131705929-131705929 5:132370237-132370237
189 SLC22A5 NM_003060.4(SLC22A5): c.447C> G (p.Phe149Leu) single nucleotide variant Uncertain significance 5:131714123-131714123 5:132378431-132378431
190 SLC22A5 NM_003060.4(SLC22A5): c.875A> T (p.Glu292Val) single nucleotide variant Uncertain significance 5:131722767-131722767 5:132387075-132387075
191 SLC22A5 NM_003060.4(SLC22A5): c.967T> C (p.Ser323Pro) single nucleotide variant Uncertain significance 5:131724628-131724628 5:132388936-132388936
192 SLC22A5 NM_003060.4(SLC22A5): c.119T> A (p.Val40Glu) single nucleotide variant Uncertain significance 5:131705783-131705783 5:132370091-132370091
193 SLC22A5 NM_003060.4(SLC22A5): c.131C> T (p.Ala44Val) single nucleotide variant Uncertain significance 5:131705795-131705795 5:132370103-132370103
194 SLC22A5 NM_003060.4(SLC22A5): c.415G> A (p.Asp139Asn) single nucleotide variant Uncertain significance 5:131714091-131714091 5:132378399-132378399
195 SLC22A5 NM_003060.4(SLC22A5): c.1255C> G (p.Leu419Val) single nucleotide variant Uncertain significance 5:131726584-131726584 5:132390892-132390892
196 SLC22A5 NM_003060.4(SLC22A5): c.39G> C (p.Glu13Asp) single nucleotide variant Uncertain significance 5:131705703-131705703 5:132370011-132370011
197 SLC22A5 NM_003060.4(SLC22A5): c.122T> G (p.Phe41Cys) single nucleotide variant Uncertain significance 5:131705786-131705786 5:132370094-132370094
198 SLC22A5 NM_003060.4(SLC22A5): c.247C> T (p.Arg83Cys) single nucleotide variant Uncertain significance 5:131705911-131705911 5:132370219-132370219
199 SLC22A5 NM_003060.4(SLC22A5): c.892C> T (p.Arg298Cys) single nucleotide variant Uncertain significance 5:131722784-131722784 5:132387092-132387092
200 SLC22A5 NM_003060.4(SLC22A5): c.1453G> A (p.Ala485Thr) single nucleotide variant Uncertain significance 5:131729370-131729370 5:132393678-132393678
201 SLC22A5 NM_003060.4(SLC22A5): c.1660A> G (p.Ser554Gly) single nucleotide variant Uncertain significance 5:131729950-131729950 5:132394258-132394258
202 SLC22A5 NM_003060.4(SLC22A5): c.592G> T (p.Val198Leu) single nucleotide variant Uncertain significance 5:131719933-131719933 5:132384241-132384241
203 SLC22A5 NM_003060.4(SLC22A5): c.26C> T (p.Ala9Val) single nucleotide variant Uncertain significance 5:131705690-131705690 5:132369998-132369998
204 SLC22A5 NM_003060.4(SLC22A5): c.55C> A (p.Arg19Ser) single nucleotide variant Uncertain significance 5:131705719-131705719 5:132370027-132370027
205 SLC22A5 NM_003060.4(SLC22A5): c.104C> T (p.Thr35Ile) single nucleotide variant Uncertain significance 5:131705768-131705768 5:132370076-132370076
206 SLC22A5 NM_003060.4(SLC22A5): c.244C> T (p.Arg82Cys) single nucleotide variant Uncertain significance 5:131705908-131705908 5:132370216-132370216
207 SLC22A5 NM_003060.4(SLC22A5): c.327G> C (p.Glu109Asp) single nucleotide variant Uncertain significance 5:131705991-131705991 5:132370299-132370299
208 SLC22A5 NM_003060.4(SLC22A5): c.363G> T (p.Gln121His) single nucleotide variant Uncertain significance 5:131706027-131706027 5:132370335-132370335
209 SLC22A5 NM_003060.4(SLC22A5): c.377C> A (p.Ser126Tyr) single nucleotide variant Uncertain significance 5:131706041-131706041 5:132370349-132370349
210 SLC22A5 NM_003060.4(SLC22A5): c.583A> G (p.Met195Val) single nucleotide variant Uncertain significance 5:131719924-131719924 5:132384232-132384232
211 SLC22A5 NM_003060.4(SLC22A5): c.635T> C (p.Val212Ala) single nucleotide variant Uncertain significance 5:131719976-131719976 5:132384284-132384284
212 SLC22A5 NM_003060.4(SLC22A5): c.704T> C (p.Val235Ala) single nucleotide variant Uncertain significance 5:131721071-131721071 5:132385379-132385379
213 SLC22A5 NM_003060.4(SLC22A5): c.770G> A (p.Arg257Gln) single nucleotide variant Uncertain significance 5:131721137-131721137 5:132385445-132385445
214 SLC22A5 NM_003060.4(SLC22A5): c.926C> T (p.Pro309Leu) single nucleotide variant Uncertain significance 5:131722818-131722818 5:132387126-132387126
215 SLC22A5 NM_003060.4(SLC22A5): c.929C> T (p.Ser310Phe) single nucleotide variant Uncertain significance 5:131722821-131722821 5:132387129-132387129
216 SLC22A5 NM_003060.4(SLC22A5): c.976C> G (p.Gln326Glu) single nucleotide variant Uncertain significance 5:131724637-131724637 5:132388945-132388945
217 SLC22A5 NM_003060.4(SLC22A5): c.1007G> A (p.Arg336Gln) single nucleotide variant Uncertain significance 5:131724668-131724668 5:132388976-132388976
218 SLC22A5 NM_003060.4(SLC22A5): c.1022G> A (p.Arg341Gln) single nucleotide variant Uncertain significance 5:131724683-131724683 5:132388991-132388991
219 SLC22A5 NM_003060.4(SLC22A5): c.1055T> G (p.Met352Arg) single nucleotide variant Uncertain significance 5:131726384-131726384 5:132390692-132390692
220 SLC22A5 NM_003060.4(SLC22A5): c.1072T> A (p.Tyr358Asn) single nucleotide variant Uncertain significance 5:131726401-131726401 5:132390709-132390709
221 SLC22A5 NM_003060.4(SLC22A5): c.1080_1081delinsTA (p.Leu361Ile) indel Uncertain significance 5:131726409-131726410 5:132390717-132390718
222 SLC22A5 NM_003060.4(SLC22A5): c.1267+5G> A single nucleotide variant Uncertain significance 5:131726601-131726601 5:132390909-132390909
223 SLC22A5 NM_003060.4(SLC22A5): c.1199G> A (p.Arg400His) single nucleotide variant Uncertain significance 5:131726528-131726528 5:132390836-132390836
224 SLC22A5 NM_003060.4(SLC22A5): c.1327T> C (p.Phe443Leu) single nucleotide variant Uncertain significance 5:131728184-131728184 5:132392492-132392492
225 SLC22A5 NM_003060.4(SLC22A5): c.1360T> C (p.Tyr454His) single nucleotide variant Uncertain significance 5:131728217-131728217 5:132392525-132392525
226 SLC22A5 NM_003060.4(SLC22A5): c.1364C> G (p.Pro455Arg) single nucleotide variant Uncertain significance 5:131728221-131728221 5:132392529-132392529
227 SLC22A5 NM_003060.4(SLC22A5): c.1552C> G (p.Pro518Ala) single nucleotide variant Uncertain significance 5:131729469-131729469 5:132393777-132393777
228 SLC22A5 NM_003060.4(SLC22A5): c.*957A> T single nucleotide variant Uncertain significance rs200950736 5:131730921-131730921 5:132395229-132395229
229 SLC22A5 NM_003060.4(SLC22A5): c.*1214G> A single nucleotide variant Uncertain significance rs529124788 5:131731178-131731178 5:132395486-132395486
230 SLC22A5 NM_003060.4(SLC22A5): c.-118G> A single nucleotide variant Uncertain significance rs538643468 5:131705547-131705547 5:132369855-132369855
231 SLC22A5 NM_003060.4(SLC22A5): c.-107G> T single nucleotide variant Likely benign rs13180186 5:131705558-131705558 5:132369866-132369866
232 SLC22A5 NM_003060.4(SLC22A5): c.*1179G> T single nucleotide variant Likely benign rs79274129 5:131731143-131731143 5:132395451-132395451
233 SLC22A5 NM_003060.4(SLC22A5): c.-139G> T single nucleotide variant Likely benign rs13180169 5:131705526-131705526 5:132369834-132369834
234 SLC22A5 NM_003060.4(SLC22A5): c.287G> C (p.Gly96Ala) single nucleotide variant Likely benign rs377767450 5:131705951-131705951 5:132370259-132370259
235 SLC22A5 NM_003060.4(SLC22A5): c.1380C> T (p.Asn460=) single nucleotide variant Likely benign rs149521997 5:131728237-131728237 5:132392545-132392545
236 SLC22A5 NM_003060.4(SLC22A5): c.1578A> G (p.Arg526=) single nucleotide variant Likely benign rs1554088590 5:131729495-131729495 5:132393803-132393803
237 SLC22A5 NM_003060.4(SLC22A5): c.1579G> C (p.Val527Leu) single nucleotide variant Likely benign rs145792427 5:131729496-131729496 5:132393804-132393804
238 SLC22A5 NM_003060.4(SLC22A5): c.1586+9A> C single nucleotide variant Likely benign rs1554088592 5:131729512-131729512 5:132393820-132393820
239 SLC22A5 NM_003060.4(SLC22A5): c.1296G> C (p.Val432=) single nucleotide variant Likely benign rs755533900 5:131728153-131728153 5:132392461-132392461
240 SLC22A5 NM_003060.4(SLC22A5): c.1515C> T (p.Leu505=) single nucleotide variant Likely benign rs780129415 5:131729432-131729432 5:132393740-132393740
241 SLC22A5 NM_003060.4(SLC22A5): c.1113C> T (p.Asp371=) single nucleotide variant Likely benign rs200637508 5:131726442-131726442 5:132390750-132390750
242 SLC22A5 NM_003060.4(SLC22A5): c.1341C> T (p.Tyr447=) single nucleotide variant Likely benign rs58188318 5:131728198-131728198 5:132392506-132392506
243 SLC22A5 NM_003060.4(SLC22A5): c.93C> T (p.Pro31=) single nucleotide variant Likely benign rs375293546 5:131705757-131705757 5:132370065-132370065
244 SLC22A5 NM_003060.4(SLC22A5): c.279G> C (p.Ser93=) single nucleotide variant Likely benign rs377734902 5:131705943-131705943 5:132370251-132370251
245 SLC22A5 NM_003060.4(SLC22A5): c.934A> G (p.Ile312Val) single nucleotide variant Likely benign rs77300588 5:131722826-131722826 5:132387134-132387134
246 SLC22A5 NM_003060.4(SLC22A5): c.904A> G (p.Lys302Glu) single nucleotide variant Likely benign rs75783492 5:131722796-131722796 5:132387104-132387104
247 SLC22A5 NM_003060.4(SLC22A5): c.75C> T (p.Leu25=) single nucleotide variant Likely benign rs144054688 5:131705739-131705739 5:132370047-132370047
248 SLC22A5 NM_003060.4(SLC22A5): c.1441G> A (p.Val481Ile) single nucleotide variant Likely benign rs11568513 5:131728298-131728298 5:132392606-132392606
249 SLC22A5 NM_003060.4(SLC22A5): c.798G> A (p.Pro266=) single nucleotide variant Likely benign rs143758508 5:131721165-131721165 5:132385473-132385473
250 SLC22A5 NM_003060.4(SLC22A5): c.852C> T (p.Leu284=) single nucleotide variant Likely benign rs146185976 5:131722744-131722744 5:132387052-132387052
251 SLC22A5 NM_003060.4(SLC22A5): c.1434C> T (p.Pro478=) single nucleotide variant Benign/Likely benign rs140495935 5:131728291-131728291 5:132392599-132392599
252 SLC22A5 NM_003060.4(SLC22A5): c.1249A> G (p.Met417Val) single nucleotide variant Benign/Likely benign rs139775414 5:131726578-131726578 5:132390886-132390886
253 SLC22A5 NM_003060.4(SLC22A5): c.1368A> G (p.Thr456=) single nucleotide variant Benign/Likely benign rs142355575 5:131728225-131728225 5:132392533-132392533
254 SLC22A5 NM_003060.4(SLC22A5): c.1590G> T (p.Met530Ile) single nucleotide variant Benign/Likely benign rs148233131 5:131729880-131729880 5:132394188-132394188
255 SLC22A5 NM_003060.4(SLC22A5): c.1125C> T (p.Asn375=) single nucleotide variant Benign/Likely benign rs202219455 5:131726454-131726454 5:132390762-132390762
256 SLC22A5 NM_003060.4(SLC22A5): c.430C> T (p.Leu144Phe) single nucleotide variant Benign/Likely benign rs10040427 5:131714106-131714106 5:132378414-132378414
257 SLC22A5 NM_003060.4(SLC22A5): c.-78C> T single nucleotide variant Benign/Likely benign rs13180043 5:131705587-131705587 5:132369895-132369895
258 SLC22A5 NM_003060.4(SLC22A5): c.-77G> A single nucleotide variant Benign/Likely benign rs13180295 5:131705588-131705588 5:132369896-132369896
259 SLC22A5 NM_003060.4(SLC22A5): c.1645C> T (p.Pro549Ser) single nucleotide variant Benign/Likely benign rs11568525 5:131729935-131729935 5:132394243-132394243
260 SLC22A5 NM_003060.4(SLC22A5): c.*47C> T single nucleotide variant Benign/Likely benign rs1045020 5:131730011-131730011 5:132394319-132394319
261 SLC22A5 NM_003060.4(SLC22A5): c.285T> C (p.Leu95=) single nucleotide variant Benign rs2631365 5:131705949-131705949 5:132370257-132370257
262 SLC22A5 NM_003060.4(SLC22A5): c.807A> G (p.Leu269=) single nucleotide variant Benign rs274558 5:131721174-131721174 5:132385482-132385482
263 SLC22A5 NM_003060.4(SLC22A5): c.824+13T> C single nucleotide variant Benign rs274557 5:131721204-131721204 5:132385512-132385512
264 SLC22A5 NM_003060.3(SLC22A5): c.652+6A> G single nucleotide variant Benign rs4551059 5:131719999-131719999 5:132384307-132384307
265 SLC22A5 NM_003060.4(SLC22A5): c.*843T> C single nucleotide variant Benign rs274548 5:131730807-131730807 5:132395115-132395115
266 SLC22A5 NM_003060.4(SLC22A5): c.*92del deletion Benign rs142209594 5:131730056-131730056 5:132394364-132394364
267 SLC22A5 NM_003060.4(SLC22A5): c.*959_*960insC insertion Benign rs144261584 5:131730923-131730924 5:132395231-132395232
268 SLC22A5 NM_003060.4(SLC22A5): c.-207C> G single nucleotide variant Benign rs2631367 5:131705458-131705458 5:132369766-132369766
269 SLC22A5 NM_003060.4(SLC22A5): c.59T> A (p.Leu20His) single nucleotide variant Benign rs144020613 5:131705723-131705723 5:132370031-132370031
270 SLC22A5 NM_003060.4(SLC22A5): c.393+17G> A single nucleotide variant Benign rs11568522 5:131706074-131706074 5:132370382-132370382
271 SLC22A5 NM_003060.4(SLC22A5): c.760C> A (p.Arg254=) single nucleotide variant Benign rs121908893 5:131721127-131721127 5:132385435-132385435
272 RNF167 NM_015528.3(RNF167): c.833dup (p.Pro279fs) duplication Benign rs1057519428 17:4848091-4848091 17:4944796-4944796
273 SLC22A5 NM_003060.4(SLC22A5): c.265_266insGGCTCGCCACC (p.Ile89fs) insertion not provided rs386134189 5:131705929-131705930 5:132370237-132370238
274 SLC22A5 NM_003060.4(SLC22A5): c.278C> G (p.Ser93Trp) single nucleotide variant not provided rs386134190 5:131705942-131705942 5:132370250-132370250
275 SLC22A5 NM_003060.4(SLC22A5): c.283C> G (p.Leu95Val) single nucleotide variant not provided rs386134191 5:131705947-131705947 5:132370255-132370255
276 SLC22A5 L97L single nucleotide variant not provided
277 SLC22A5 NM_003060.4(SLC22A5): c.285= (p.Leu95=) single nucleotide variant not provided rs2631365 5:131705949-131705949 5:132370257-132370257
278 SLC22A5 NM_003060.4(SLC22A5): c.207G> C (p.Leu69=) single nucleotide variant not provided rs377767446 5:131705871-131705871 5:132370179-132370179
279 SLC22A5 NM_003060.4(SLC22A5): c.235del (p.His79fs) deletion not provided rs377767447 5:131705896-131705896 5:132370204-132370204
280 SLC22A5 NM_003060.4(SLC22A5): c.246C> T (p.Arg82=) single nucleotide variant not provided rs377767448 5:131705910-131705910 5:132370218-132370218
281 SLC22A5 G12_L477del deletion not provided 5:131705697-131728284 5:132370006-132392593
282 SLC22A5 NM_003060.4(SLC22A5): c.136C> G (p.Pro46Ala) single nucleotide variant not provided rs202088921 5:131705800-131705800 5:132370108-132370108
283 SLC22A5 NM_003060.4(SLC22A5): c.824+13= single nucleotide variant not provided rs274557 5:131721204-131721204 5:132385512-132385512
284 SLC22A5 NM_003060.4(SLC22A5): c.674C> T (p.Ser225Leu) single nucleotide variant not provided rs386134205 5:131721041-131721041 5:132385349-132385349
285 SLC22A5 NM_003060.4(SLC22A5): c.-38= single nucleotide variant not provided rs1045018 5:131705627-131705627 5:132369935-132369935
286 SLC22A5 NM_003060.4(SLC22A5): c.4dup (p.Arg2fs) duplication not provided rs377767443 5:131705668-131705668 5:132369976-132369976
287 SLC22A5 NM_003060.4(SLC22A5): c.-207= single nucleotide variant not provided rs2631367 5:131705458-131705458 5:132369766-132369766
288 SLC22A5 NM_003060.4(SLC22A5): c.-185= single nucleotide variant not provided rs2631366 5:131705480-131705480 5:132369788-132369788
289 SLC22A5 NM_003060.4(SLC22A5): c.-149G> A single nucleotide variant not provided rs57262206 5:131705516-131705516 5:132369824-132369824
290 SLC22A5 NM_003060.4(SLC22A5): c.652+77A> G single nucleotide variant not provided rs274559 5:131720070-131720070 5:132384378-132384378
291 SLC22A5 NM_003060.3(SLC22A5): c.653_824del (p.Thr219Serfs) deletion not provided rs1554087460 5:131721020-131721191 5:132385328-132385499
292 SLC22A5 NM_003060.4(SLC22A5): c.768G> A (p.Trp256Ter) single nucleotide variant not provided rs386134202 5:131721135-131721135 5:132385443-132385443
293 SLC22A5 NM_003060.4(SLC22A5): c.807= (p.Leu269=) single nucleotide variant not provided rs274558 5:131721174-131721174 5:132385482-132385482
294 SLC22A5 NM_003060.4(SLC22A5): c.825G> A (p.Trp275Ter) single nucleotide variant not provided rs386134207 5:131722717-131722717 5:132387025-132387025
295 SLC22A5 NM_003060.4(SLC22A5): c.839C> T (p.Ser280Phe) single nucleotide variant not provided rs386134208 5:131722731-131722731 5:132387039-132387039
296 SLC22A5 NM_003060.4(SLC22A5): c.902C> A (p.Ala301Asp) single nucleotide variant not provided rs72552730 5:131722794-131722794 5:132387102-132387102
297 SLC22A5 NM_003060.4(SLC22A5): c.1009del (p.Thr337fs) deletion not provided rs386134213 5:131724670-131724670 5:132388978-132388978
298 SLC22A5 NM_003060.4(SLC22A5): c.847T> C (p.Trp283Arg) single nucleotide variant not provided rs72552729 5:131722739-131722739 5:132387047-132387047
299 SLC22A5 NM_003060.4(SLC22A5): c.849G> T (p.Trp283Cys) single nucleotide variant not provided rs386134211 5:131722741-131722741 5:132387049-132387049
300 SLC22A5 NM_003060.4(SLC22A5): c.1161T> G (p.Tyr387Ter) single nucleotide variant not provided rs72552731 5:131726490-131726490 5:132390798-132390798
301 SLC22A5 NM_003060.4(SLC22A5): c.1336G> T (p.Val446Phe) single nucleotide variant not provided rs72552733 5:131728193-131728193 5:132392501-132392501
302 SLC22A5 NM_003060.4(SLC22A5): c.1267+3_1267+23del deletion not provided rs386134216 5:131726599-131726619 5:132390907-132390927
303 SLC22A5 NM_003060.4(SLC22A5): c.1268-34A> G single nucleotide variant not provided rs11568515 5:131728091-131728091 5:132392399-132392399
304 SLC22A5 NM_003060.4(SLC22A5): c.652_653insTATGGCCATCAGGTTGGAG (p.Gly218fs) insertion not provided 5:131719993-131719994 5:132384301-132384302
305 SLC22A5 NM_003060.4(SLC22A5): c.847T> A (p.Trp283Arg) single nucleotide variant not provided rs72552729 5:131722739-131722739 5:132387047-132387047
306 SLC22A5 NM_003060.4(SLC22A5): c.1392_1409delinsCA (p.Val465fs) indel not provided rs386134220 5:131728249-131728266 5:132392557-132392574
307 SLC22A5 NM_003060.4(SLC22A5): c.1586+1G> T single nucleotide variant not provided rs386134226 5:131729504-131729504 5:132393812-132393812
308 SLC22A5 NM_003060.4(SLC22A5): c.1587-38A> C single nucleotide variant not provided rs11568523 5:131729839-131729839 5:132394147-132394147
309 SLC22A5 NM_003060.4(SLC22A5): c.1342G> T (p.Val448Leu) single nucleotide variant not provided rs386134219 5:131728199-131728199 5:132392507-132392507
310 SLC22A5 NM_003060.4(SLC22A5): c.1441G> T (p.Val481Phe) single nucleotide variant not provided rs11568513 5:131728298-131728298 5:132392606-132392606

UniProtKB/Swiss-Prot genetic disease variations for Carnitine Deficiency, Systemic Primary:

74 (showing 73, show less)
# Symbol AA change Variation ID SNP ID
1 SLC22A5 p.Arg169Gln VAR_009252 rs121908889
2 SLC22A5 p.Tyr211Cys VAR_009253 rs121908888
3 SLC22A5 p.Trp283Arg VAR_009254 rs72552729
4 SLC22A5 p.Val446Phe VAR_009255 rs72552733
5 SLC22A5 p.Glu452Lys VAR_009256 rs72552734
6 SLC22A5 p.Pro478Leu VAR_009257 rs72552735
7 SLC22A5 p.Phe17Leu VAR_020347 rs11568520
8 SLC22A5 p.Trp283Cys VAR_022565 rs386134211
9 SLC22A5 p.Ser467Cys VAR_022566 rs60376624
10 SLC22A5 p.Gly15Trp VAR_064110 rs267607052
11 SLC22A5 p.Arg19Pro VAR_064111 rs72552723
12 SLC22A5 p.Asn32Ser VAR_064112 rs72552725
13 SLC22A5 p.Pro46Ser VAR_064113 rs202088921
14 SLC22A5 p.Thr66Pro VAR_064114
15 SLC22A5 p.Arg75Pro VAR_064115 rs757711838
16 SLC22A5 p.Arg83Leu VAR_064116 rs72552726
17 SLC22A5 p.Gly96Ala VAR_064117 rs377767450
18 SLC22A5 p.Asp122Tyr VAR_064118 rs201082652
19 SLC22A5 p.Val123Gly VAR_064119 rs748605096
20 SLC22A5 p.Pro143Leu VAR_064121 rs117858418
21 SLC22A5 p.Arg169Trp VAR_064122 rs121908890
22 SLC22A5 p.Met177Val VAR_064123 rs145068530
23 SLC22A5 p.Leu186Pro VAR_064124 rs386134197
24 SLC22A5 p.Arg227His VAR_064126 rs185551386
25 SLC22A5 p.Phe230Leu VAR_064127 rs756650860
26 SLC22A5 p.Thr232Met VAR_064128 rs114269482
27 SLC22A5 p.Gly234Arg VAR_064129 rs145725852
28 SLC22A5 p.Ala240Thr VAR_064130
29 SLC22A5 p.Gly242Val VAR_064131 rs72552728
30 SLC22A5 p.Arg257Trp VAR_064132 rs386134203
31 SLC22A5 p.Thr264Arg VAR_064133 rs201262157
32 SLC22A5 p.Arg282Gln VAR_064134 rs386134210
33 SLC22A5 p.Ala301Asp VAR_064135 rs72552730
34 SLC22A5 p.Trp351Arg VAR_064137 rs68018207
35 SLC22A5 p.Ser355Leu VAR_064138 rs138563439
36 SLC22A5 p.Tyr358Asn VAR_064139 rs61731073
37 SLC22A5 p.Ser362Leu VAR_064140 rs886042092
38 SLC22A5 p.Pro398Leu VAR_064141 rs144547521
39 SLC22A5 p.Arg399Gln VAR_064142 rs121908891
40 SLC22A5 p.Arg399Trp VAR_064143 rs267607054
41 SLC22A5 p.Thr440Met VAR_064144 rs72552732
42 SLC22A5 p.Ala442Ile VAR_064145 rs267607053
43 SLC22A5 p.Phe443Val VAR_064146
44 SLC22A5 p.Tyr447Cys VAR_064147 rs386134218
45 SLC22A5 p.Pro455Arg VAR_064148 rs140816634
46 SLC22A5 p.Thr468Arg VAR_064149 rs386134221
47 SLC22A5 p.Arg471Cys VAR_064150 rs749282641
48 SLC22A5 p.Arg488Cys VAR_064151 rs377216516
49 SLC22A5 p.Leu507Ser VAR_064152 rs115719854
50 SLC22A5 p.Ser26Asn VAR_066843 rs772578415
51 SLC22A5 p.Ser280Phe VAR_066844 rs386134208
52 SLC22A5 p.Arg471Pro VAR_066845
53 SLC22A5 p.Pro16Leu VAR_079641
54 SLC22A5 p.Ser28Ile VAR_079643 rs72552724
55 SLC22A5 p.Ala44Val VAR_079644 rs199689597
56 SLC22A5 p.Pro46Leu VAR_079645 rs377767445
57 SLC22A5 p.Cys50Tyr VAR_079646
58 SLC22A5 p.Ser93Trp VAR_079647 rs386134190
59 SLC22A5 p.Asp115Gly VAR_079649 rs386134192
60 SLC22A5 p.Arg169Pro VAR_079655
61 SLC22A5 p.Val175Met VAR_079656 rs781721860
62 SLC22A5 p.Met205Arg VAR_079657
63 SLC22A5 p.Asn210Ser VAR_079658 rs386134198
64 SLC22A5 p.Ser225Leu VAR_079660 rs386134205
65 SLC22A5 p.Ser231Phe VAR_079661 rs386134206
66 SLC22A5 p.Pro247Arg VAR_079662
67 SLC22A5 p.Leu363Pro VAR_079675 rs386134214
68 SLC22A5 p.Val439Gly VAR_079679
69 SLC22A5 p.Val448Leu VAR_079680 rs386134219
70 SLC22A5 p.Gly462Val VAR_079681
71 SLC22A5 p.Ser470Phe VAR_079682 rs386134222
72 SLC22A5 p.Arg471His VAR_079683 rs386134223
73 SLC22A5 p.Leu476Arg VAR_079684

Expression for Carnitine Deficiency, Systemic Primary

Search GEO for disease gene expression data for Carnitine Deficiency, Systemic Primary.

Pathways for Carnitine Deficiency, Systemic Primary

Pathways related to Carnitine Deficiency, Systemic Primary according to GeneCards Suite gene sharing:

(showing 2, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.19 SLC22A5 SLC22A4 SLC22A2
2
Show member pathways
10.68 CPT2 ACADVL

GO Terms for Carnitine Deficiency, Systemic Primary

Cellular components related to Carnitine Deficiency, Systemic Primary according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.26 SLC22A4 ETFDH CPT2 ACADVL
2 mitochondrial membrane GO:0031966 9.16 ETFDH ACADVL
3 mitochondrial inner membrane GO:0005743 8.8 ETFDH CPT2 ACADVL

Biological processes related to Carnitine Deficiency, Systemic Primary according to GeneCards Suite gene sharing:

(showing 12, show less)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.65 SLC22A5 SLC22A4 SLC22A2
2 transmembrane transport GO:0055085 9.63 SLC22A5 SLC22A4 SLC22A2
3 fatty acid metabolic process GO:0006631 9.51 CPT2 ACADVL
4 sodium ion transport GO:0006814 9.49 SLC22A5 SLC22A4
5 fatty acid beta-oxidation GO:0006635 9.43 CPT2 ACADVL
6 organic cation transport GO:0015695 9.37 SLC22A4 SLC22A2
7 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.32 ETFDH ACADVL
8 body fluid secretion GO:0007589 9.26 SLC22A4 SLC22A2
9 carnitine transport GO:0015879 9.16 SLC22A5 SLC22A4
10 drug transmembrane transport GO:0006855 9.1 SLC22A2
11 quaternary ammonium group transport GO:0015697 8.96 SLC22A5 SLC22A4
12 carnitine transmembrane transport GO:1902603 8.62 SLC22A5 SLC22A4

Molecular functions related to Carnitine Deficiency, Systemic Primary according to GeneCards Suite gene sharing:

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.4 SLC22A5 SLC22A4
2 transporter activity GO:0005215 9.37 SLC22A5 SLC22A4
3 transmembrane transporter activity GO:0022857 9.33 SLC22A5 SLC22A4 SLC22A2
4 PDZ domain binding GO:0030165 9.32 SLC22A5 SLC22A4
5 flavin adenine dinucleotide binding GO:0050660 9.26 ETFDH ACADVL
6 quaternary ammonium group transmembrane transporter activity GO:0015651 8.96 SLC22A5 SLC22A4
7 carnitine transmembrane transporter activity GO:0015226 8.62 SLC22A5 SLC22A4

Sources for Carnitine Deficiency, Systemic Primary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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