LCHAD DEFICIENCY
MCID: LNG073
MIFTS: 59

Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency (LCHAD DEFICIENCY)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

MalaCards integrated aliases for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

Name: Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 57 25 29 6 40
Lchad Deficiency 57 76 53 25 59 75 37 29 6
Long-Chain 3-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 53 25 59
Aflp 53 59 75
Long-Chain 3-Hydroxy Acyl Coa Dehydrogenase Deficiency 53 25
Long-Chain 3-Oh Acyl-Coa Dehydrogenase Deficiency 53 25
Trifunctional Protein Deficiency, Type 1 25 73
Fatty Liver, Acute, of Pregnancy 57 13
Acute Fatty Liver of Pregnancy 53 59
Trifunctional Protein Deficiency with Myopathy and Neuropathy 73
3-Hydroxyacyl-Coa Dehydrogenase, Long Chain, Deficiency 25
3-Hydroxyacyl-Coa Dehydrogenase Long Chain Deficiency 53
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 59
Long-Chain 3-Hydroxyl-Coa Dehydrogenase Deficiency 75
Trifunctional Protein Deficiency Type 1 53
Maternal Acute Fatty Liver of Pregnancy 75
Hellp Syndrome, Maternal, of Pregnancy 57
Acute Fatty Liver, Gestational 53
Lchadd 59

Characteristics:

Orphanet epidemiological data:

59
acute fatty liver of pregnancy
Inheritance: Multigenic/multifactorial; Age of onset: Adult;
long chain 3-hydroxyacyl-coa dehydrogenase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Australia),1-9/1000000 (Germany),1-9/1000000 (Poland),1-9/100000 (Estonia),1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood;

HPO:

32
long-chain 3-hydroxyacyl-coa dehydrogenase deficiency:
Mortality/Aging sudden death


Classifications:



Summaries for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

UniProtKB/Swiss-Prot : 75 Long-chain 3-hydroxyl-CoA dehydrogenase deficiency: The clinical features are very similar to TFP deficiency. Biochemically, LCHAD deficiency is characterized by reduced long-chain 3-hydroxyl-CoA dehydrogenase activity, while the other enzyme activities of the TFP complex are normal or only slightly reduced. Maternal acute fatty liver of pregnancy: Severe maternal illness occurring during pregnancies with affected fetuses. This disease is associated with LCHAD deficiency and characterized by sudden unexplained infant death or hypoglycemia and abnormal liver enzymes (Reye-like syndrome).

MalaCards based summary : Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency, also known as lchad deficiency, is related to mitochondrial trifunctional protein deficiency and 3-hydroxyacyl-coa dehydrogenase deficiency, and has symptoms including myalgia and weakness. An important gene associated with Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency is HADHA (Hydroxyacyl-CoA Dehydrogenase Trifunctional Multienzyme Complex Subunit Alpha), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Tocopherol and Heparin have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and skin, and related phenotypes are intellectual disability and seizures

Genetics Home Reference : 25 Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).

NIH Rare Diseases : 53 Acute fatty liver of pregnancy (AFLP) is a rare and serious complication of pregnancy. It is characterized by a build-up of fat in the liver, which can lead to liver damage. The cause of AFLP is not well understood, but genetics may play a role. Symptoms generally begin in the third trimester and may include persistent nausea and vomiting, pain in the stomach or upper-right abdomen, malaise, jaundice and headache. Without prompt treatment, AFLP can lead to coma, organ failure or death of the mother and baby. Treatment involves stabilizing the mother and delivery of the baby. 

OMIM : 57 Isolated deficiency of long-chain 3-hydroxyl-CoA dehydrogenase (LCHAD) is an autosomal recessive disorder characterized by early-onset cardiomyopathy, hypoglycemia, neuropathy, and pigmentary retinopathy, and sudden death (IJlst et al., 1996). (609016)

Wikipedia : 76 Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, often shortened to LCHAD deficiency, is a... more...

Related Diseases for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Diseases related to Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 mitochondrial trifunctional protein deficiency 32.3 GAREM2 HADHA HADHB
2 3-hydroxyacyl-coa dehydrogenase deficiency 31.6 ACADM ACADVL HADH HADHA
3 polyneuropathy 10.4
4 fundus dystrophy 10.4
5 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.3
6 cataract 10.3
7 dilated cardiomyopathy 10.3
8 liver cirrhosis 10.3
9 liver disease 10.3
10 cholestasis 10.3
11 peripheral nervous system disease 10.3
12 placenta disease 10.3
13 neuropathy 10.3
14 fatty liver disease 10.3
15 myoglobinuria, recurrent 10.3
16 myoglobinuria 10.3
17 hypoparathyroidism 10.3
18 cardiogenic shock 10.3
19 disseminated intravascular coagulation 10.3
20 hellp syndrome 10.3
21 pancreatitis 10.2
22 infantile liver failure syndrome 1 10.2
23 diabetes insipidus 10.2
24 argyria 10.2
25 hyperinsulinemic hypoglycemia, familial, 6 10.1 HADH HADHA
26 reye syndrome 10.1 ACADM HADHA
27 hepatitis 10.1
28 d-bifunctional protein deficiency 10.1 HADH HADHB
29 carnitine palmitoyltransferase ii deficiency, infantile 10.1 ACADVL HADHB
30 polycythemia vera 10.1
31 plague 10.1
32 fatty liver disease, nonalcoholic 1 10.1 HADHA MTTP
33 syndromic x-linked intellectual disability type 10 10.0 HADH HSD17B10
34 maple syrup urine disease 10.0
35 homocystinuria 10.0
36 acute liver failure 10.0
37 intrahepatic cholestasis of pregnancy 10.0
38 cowden syndrome 1 10.0
39 ruvalcaba syndrome 10.0
40 hemophagocytic lymphohistiocytosis 10.0
41 myopathy 10.0
42 carnitine palmitoyltransferase i deficiency 10.0 ACADVL HADH HADHA
43 phenylketonuria 10.0 ACADM HADHA
44 acyl-coa dehydrogenase, medium-chain, deficiency of 10.0 ACADM ACADVL HADHA
45 abetalipoproteinemia 10.0 HADHA HADHB MTTP
46 hypoglycemia 9.9 ACADM ACADVL HADH
47 peliosis hepatis 9.9 HADHA VIM
48 tetralogy of fallot 9.9
49 cystic fibrosis 9.9
50 pancreatic cancer 9.9

Graphical network of the top 20 diseases related to Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:



Diseases related to Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Symptoms & Phenotypes for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Clinical features from OMIM:

609016

Human phenotypes related to Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 muscular hypotonia 59 32 Frequent (79-30%) HP:0001252
4 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
5 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
6 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
7 abnormality of retinal pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007703
8 retinopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000488
9 photophobia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000613
10 hypertrophic cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001639
11 hypoglycemia 59 32 Very frequent (99-80%) HP:0001943
12 peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0009830
13 feeding difficulties 59 32 occasional (7.5%) Occasional (29-5%) HP:0011968
14 abnormal electroretinogram 59 32 frequent (33%) Frequent (79-30%) HP:0000512
15 myopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000545
16 cholestatic liver disease 59 32 occasional (7.5%) Occasional (29-5%) HP:0002611
17 nyctalopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000662
18 visual loss 59 32 frequent (33%) Frequent (79-30%) HP:0000572
19 generalized hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001290
20 exotropia 59 32 frequent (33%) Frequent (79-30%) HP:0000577
21 hypoketotic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001985
22 chorioretinal atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000533
23 posterior staphyloma 59 32 occasional (7.5%) Occasional (29-5%) HP:0030856
24 abnormality of metabolism/homeostasis 59 Frequent (79-30%)
25 cardiomyopathy 32 HP:0001638
26 chorioretinal abnormality 59 Occasional (29-5%)
27 pigmentary retinopathy 32 HP:0000580
28 decreased activity of 3-hydroxyacyl-coa dehydrogenase 32 HP:0100950

UMLS symptoms related to Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:


myalgia, weakness

MGI Mouse Phenotypes related to Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 ACADM ACADVL HADHA HADHB KRT8 MTTP
2 homeostasis/metabolism MP:0005376 9.76 ACADM ACADVL HADH HADHA HADHB KRT8
3 liver/biliary system MP:0005370 9.43 ACADM ACADVL HADHA HADHB KRT8 MTTP
4 muscle MP:0005369 9.02 ACADM ACADVL HADHA HADHB VIM

Drugs & Therapeutics for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Drugs for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tocopherol Approved, Investigational Not Applicable 1406-66-2 14986
2
Heparin Approved, Investigational Not Applicable 9005-49-6 772 46507594
3
Glycerol Approved, Investigational Not Applicable 56-81-5 753
4
Vitamin E Approved, Nutraceutical, Vet_approved Not Applicable 59-02-9 14985
5 Tocotrienol Investigational Not Applicable 6829-55-6
6 Tocotrienols Not Applicable
7 Antioxidants Not Applicable
8 Micronutrients Not Applicable
9 Protective Agents Not Applicable
10 Vitamins Not Applicable
11 Tocopherols Not Applicable
12 Trace Elements Not Applicable
13 Soybean oil, phospholipid emulsion Not Applicable
14 Fat Emulsions, Intravenous Not Applicable
15 Hypoglycemic Agents Not Applicable
16 insulin Not Applicable
17 Calcium, Dietary Not Applicable
18 Insulin, Globin Zinc Not Applicable
19 Pharmaceutical Solutions Not Applicable
20 Soy Bean Not Applicable
21 Anticoagulants Not Applicable
22 calcium heparin Not Applicable
23 Fibrinolytic Agents Not Applicable
24 Parenteral Nutrition Solutions Not Applicable
25 pyruvate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders Completed NCT01494051 Phase 1, Phase 2
2 Fatty Acid Oxidation Disorders & Body Weight Regulation Grant Completed NCT00654004
3 Vitamin E Treatment for Long-Chain 3-Hydroxyacyl Coenzyme A (CoA) Dehydrogenase (LCHAD) Associated Neuropathy Terminated NCT00840112 Not Applicable
4 Fatty Acid Oxidation Defects and Insulin Sensitivity Recruiting NCT02517307 Not Applicable Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
5 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable
6 Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism Available NCT01461304 triheptanoin

Search NIH Clinical Center for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Genetic Tests for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Genetic tests related to Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

# Genetic test Affiliating Genes
1 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 29 HADHA
2 Lchad Deficiency 29

Anatomical Context for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

MalaCards organs/tissues related to Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

41
Liver, Eye, Skin, Testes, Skeletal Muscle, Placenta

Publications for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Articles related to Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

(show top 50) (show all 81)
# Title Authors Year
1
Follow-up and multimodal imaging in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 30364125 )
2018
2
Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. ( 30029694 )
2018
3
High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland. ( 29095929 )
2017
4
Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function. ( 27461099 )
2016
5
Ultra-Wide-Field Autofluorescence in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Chorioretinopathy. ( 27078015 )
2016
6
An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence? ( 27769081 )
2016
7
Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients. ( 26653362 )
2016
8
Early dietary therapy for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency can maintain vision despite subnormal retinal function. ( 27639177 )
2016
9
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report. ( 26896063 )
2016
10
Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 26676313 )
2016
11
Uncoupling, metabolic inhibition and induction of mitochondrial permeability transition in rat liver mitochondria caused by the major long-chain hydroxyl monocarboxylic fatty acids accumulating in LCHAD deficiency. ( 25868874 )
2015
12
Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. ( 26024122 )
2015
13
Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency. ( 26545880 )
2015
14
Erratum to: increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast. ( 25413955 )
2015
15
Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast. ( 25141826 )
2014
16
Sports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate Treatment. ( 24997711 )
2014
17
Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. ( 23430524 )
2013
18
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia. ( 23430857 )
2012
19
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. ( 21103935 )
2011
20
Perioperative management of a child with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. ( 20470346 )
2010
21
Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy - a common feature of the pregnancy complication? ( 20363656 )
2010
22
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland. ( 20814823 )
2010
23
Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. ( 20583174 )
2010
24
Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency. ( 18408953 )
2009
25
EFFECT OF FEEDING, EXERCISE AND GENOTYPE ON PLASMA 3-HYDROXYACYLCARNITINES IN CHILDREN WITH LCHAD DEFICIENCY. ( 20589231 )
2009
26
[Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and choroidal neovascularization]. ( 19107076 )
2008
27
Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: presentation of a long-term survivor. ( 18465739 )
2008
28
Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Presentation of a long-term survivor. ( 28221621 )
2008
29
Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up. ( 18162058 )
2008
30
Increased lipolysis in LCHAD deficiency. ( 17160563 )
2007
31
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with inadvertent caries in infants. ( 17181583 )
2007
32
Homogeneous amplification nucleobase quenching assay to detect the E474Q LCHAD deficiency mutation. ( 15857179 )
2005
33
Maternal acute fatty liver of pregnancy and the associated risk for long-chain 3-hydroxyacyl-coenzyme a dehydrogenase (LCHAD) deficiency in infants. ( 14988877 )
2004
34
Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12872842 )
2003
35
What is the role of medium-chain triglycerides in the management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency? ( 12971423 )
2003
36
Analysis of isomeric long-chain hydroxy fatty acids by tandem mass spectrometry: application to the diagnosis of long-chain 3-hydroxyacyl CoA dehydrogenase deficiency. ( 12512097 )
2003
37
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). ( 12660866 )
2003
38
Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12971430 )
2003
39
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12809642 )
2003
40
Accumulation of 3-hydroxy-fatty acids in the culture medium of long-chain L-3-hydroxyacyl CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein-deficient skin fibroblasts: implications for medium chain triglyceride dietary treatment of LCHAD deficiency. ( 12621125 )
2003
41
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. ( 11773547 )
2002
42
[LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency as a cause of sudden death of a three months old infant]. ( 12637776 )
2002
43
Preimplantation diagnosis for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12537820 )
2001
44
Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 11719334 )
2001
45
Placental floor infarction complicating the pregnancy of a fetus with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. ( 11243734 )
2001
46
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings. ( 10653342 )
2000
47
Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders. ( 10682306 )
2000
48
Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls. ( 10789927 )
2000
49
Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey. ( 10234607 )
1999
50
Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry. ( 10518286 )
1999

Variations for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 HADHA p.Glu510Gln VAR_002273 rs137852769
2 HADHA p.Leu342Pro VAR_021127 rs137852772

ClinVar genetic disease variations for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency:

6 (show top 50) (show all 236)
# Gene Variation Type Significance SNP ID Assembly Location
1 HADHA NM_000182.4(HADHA): c.1528G> C (p.Glu510Gln) single nucleotide variant Pathogenic rs137852769 GRCh37 Chromosome 2, 26418053: 26418053
2 HADHA NM_000182.4(HADHA): c.1528G> C (p.Glu510Gln) single nucleotide variant Pathogenic rs137852769 GRCh38 Chromosome 2, 26195184: 26195184
3 HADHA NM_000182.4(HADHA): c.1132C> T (p.Gln378Ter) single nucleotide variant Likely pathogenic rs137852770 GRCh37 Chromosome 2, 26427019: 26427019
4 HADHA NM_000182.4(HADHA): c.1132C> T (p.Gln378Ter) single nucleotide variant Likely pathogenic rs137852770 GRCh38 Chromosome 2, 26204150: 26204150
5 HADHA NM_000182.4(HADHA): c.180+1G> A single nucleotide variant Likely pathogenic rs786205088 GRCh37 Chromosome 2, 26461801: 26461801
6 HADHA NM_000182.4(HADHA): c.180+1G> A single nucleotide variant Likely pathogenic rs786205088 GRCh38 Chromosome 2, 26238933: 26238933
7 HADHA NM_000182.4(HADHA): c.180+3A> G single nucleotide variant Pathogenic rs781222705 GRCh37 Chromosome 2, 26461799: 26461799
8 HADHA NM_000182.4(HADHA): c.180+3A> G single nucleotide variant Pathogenic rs781222705 GRCh38 Chromosome 2, 26238931: 26238931
9 HADHA NM_000182.4(HADHA): c.871C> T (p.Arg291Ter) single nucleotide variant Pathogenic rs137852775 GRCh37 Chromosome 2, 26437359: 26437359
10 HADHA NM_000182.4(HADHA): c.871C> T (p.Arg291Ter) single nucleotide variant Pathogenic rs137852775 GRCh38 Chromosome 2, 26214490: 26214490
11 HADHA NM_000182.4(HADHA): c.157C> T (p.Arg53Ter) single nucleotide variant Pathogenic/Likely pathogenic rs147103714 GRCh37 Chromosome 2, 26461825: 26461825
12 HADHA NM_000182.4(HADHA): c.157C> T (p.Arg53Ter) single nucleotide variant Pathogenic/Likely pathogenic rs147103714 GRCh38 Chromosome 2, 26238957: 26238957
13 HADHA NM_000182.4(HADHA): c.1981C> T (p.Leu661=) single nucleotide variant Conflicting interpretations of pathogenicity rs142348718 GRCh37 Chromosome 2, 26415198: 26415198
14 HADHA NM_000182.4(HADHA): c.1981C> T (p.Leu661=) single nucleotide variant Conflicting interpretations of pathogenicity rs142348718 GRCh38 Chromosome 2, 26192329: 26192329
15 HADHA NM_000182.4(HADHA): c.474C> T (p.Tyr158=) single nucleotide variant Benign rs11552518 GRCh37 Chromosome 2, 26455127: 26455127
16 HADHA NM_000182.4(HADHA): c.474C> T (p.Tyr158=) single nucleotide variant Benign rs11552518 GRCh38 Chromosome 2, 26232259: 26232259
17 HADHA NM_000182.4(HADHA): c.1620+11G> C single nucleotide variant Benign/Likely benign rs112236946 GRCh37 Chromosome 2, 26417950: 26417950
18 HADHA NM_000182.4(HADHA): c.1620+11G> C single nucleotide variant Benign/Likely benign rs112236946 GRCh38 Chromosome 2, 26195081: 26195081
19 HADHA NM_000182.4(HADHA): c.1981_1999del19 (p.Leu661Serfs) deletion Likely pathogenic rs749848370 GRCh37 Chromosome 2, 26415180: 26415198
20 HADHA NM_000182.4(HADHA): c.1981_1999del19 (p.Leu661Serfs) deletion Likely pathogenic rs749848370 GRCh38 Chromosome 2, 26192311: 26192329
21 HADHA NM_000182.4(HADHA): c.1967delT (p.Leu656Terfs) deletion Pathogenic/Likely pathogenic rs779113356 GRCh37 Chromosome 2, 26415212: 26415212
22 HADHA NM_000182.4(HADHA): c.1967delT (p.Leu656Terfs) deletion Pathogenic/Likely pathogenic rs779113356 GRCh38 Chromosome 2, 26192343: 26192343
23 HADHA NM_000182.4(HADHA): c.1793_1794delAT (p.His598Argfs) deletion Likely pathogenic rs769580842 GRCh37 Chromosome 2, 26416537: 26416538
24 HADHA NM_000182.4(HADHA): c.1793_1794delAT (p.His598Argfs) deletion Likely pathogenic rs769580842 GRCh38 Chromosome 2, 26193668: 26193669
25 HADHA NM_000182.4(HADHA): c.703C> T (p.Arg235Trp) single nucleotide variant Likely pathogenic rs786204607 GRCh37 Chromosome 2, 26438018: 26438018
26 HADHA NM_000182.4(HADHA): c.703C> T (p.Arg235Trp) single nucleotide variant Likely pathogenic rs786204607 GRCh38 Chromosome 2, 26215149: 26215149
27 HADHA NM_000182.4(HADHA): c.274_278delTCATC (p.Ser92Lysfs) deletion Pathogenic/Likely pathogenic rs781205883 GRCh37 Chromosome 2, 26459759: 26459763
28 HADHA NM_000182.4(HADHA): c.274_278delTCATC (p.Ser92Lysfs) deletion Pathogenic/Likely pathogenic rs781205883 GRCh38 Chromosome 2, 26236891: 26236895
29 HADHA NM_000182.4(HADHA): c.919-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs200017313 GRCh37 Chromosome 2, 26435497: 26435497
30 HADHA NM_000182.4(HADHA): c.919-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs200017313 GRCh38 Chromosome 2, 26212628: 26212628
31 HADHA NM_000182.4(HADHA): c.1918C> T (p.Gln640Ter) single nucleotide variant Pathogenic rs794727198 GRCh37 Chromosome 2, 26415261: 26415261
32 HADHA NM_000182.4(HADHA): c.1918C> T (p.Gln640Ter) single nucleotide variant Pathogenic rs794727198 GRCh38 Chromosome 2, 26192392: 26192392
33 HADHA NM_000182.4(HADHA): c.2146+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs794727219 GRCh37 Chromosome 2, 26414351: 26414351
34 HADHA NM_000182.4(HADHA): c.2146+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs794727219 GRCh38 Chromosome 2, 26191482: 26191482
35 HADHA NM_000182.4(HADHA): c.403A> G (p.Lys135Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs794727700 GRCh37 Chromosome 2, 26457135: 26457135
36 HADHA NM_000182.4(HADHA): c.403A> G (p.Lys135Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs794727700 GRCh38 Chromosome 2, 26234267: 26234267
37 HADHA NM_000182.4(HADHA): c.1690-6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs111662358 GRCh37 Chromosome 2, 26416647: 26416647
38 HADHA NM_000182.4(HADHA): c.1690-6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs111662358 GRCh38 Chromosome 2, 26193778: 26193778
39 HADHA NM_000182.4(HADHA): c.1392+10G> A single nucleotide variant Benign/Likely benign rs60085478 GRCh37 Chromosome 2, 26424008: 26424008
40 HADHA NM_000182.4(HADHA): c.1392+10G> A single nucleotide variant Benign/Likely benign rs60085478 GRCh38 Chromosome 2, 26201139: 26201139
41 HADHA NM_000182.4(HADHA): c.982G> A (p.Gly328Arg) single nucleotide variant Uncertain significance rs796051970 GRCh37 Chromosome 2, 26432752: 26432752
42 HADHA NM_000182.4(HADHA): c.982G> A (p.Gly328Arg) single nucleotide variant Uncertain significance rs796051970 GRCh38 Chromosome 2, 26209883: 26209883
43 HADHA NM_000182.4(HADHA): c.955G> A (p.Gly319Ser) single nucleotide variant Uncertain significance rs752317877 GRCh37 Chromosome 2, 26435459: 26435459
44 HADHA NM_000182.4(HADHA): c.955G> A (p.Gly319Ser) single nucleotide variant Uncertain significance rs752317877 GRCh38 Chromosome 2, 26212590: 26212590
45 HADHA NM_000182.4(HADHA): c.573+8_573+9insT duplication Benign rs112196218 GRCh37 Chromosome 2, 26455020: 26455020
46 HADHA NM_000182.4(HADHA): c.573+8_573+9insT duplication Benign rs112196218 GRCh38 Chromosome 2, 26232152: 26232152
47 HADHA NM_000182.4(HADHA): c.1072C> A (p.Gln358Lys) single nucleotide variant Benign/Likely benign rs2229420 GRCh37 Chromosome 2, 26432662: 26432662
48 HADHA NM_000182.4(HADHA): c.1072C> A (p.Gln358Lys) single nucleotide variant Benign/Likely benign rs2229420 GRCh38 Chromosome 2, 26209793: 26209793
49 HADHA NM_000182.4(HADHA): c.*510A> T single nucleotide variant Likely benign rs13432453 GRCh38 Chromosome 2, 26190740: 26190740
50 HADHA NM_000182.4(HADHA): c.*510A> T single nucleotide variant Likely benign rs13432453 GRCh37 Chromosome 2, 26413609: 26413609

Expression for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Search GEO for disease gene expression data for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency.

Pathways for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Pathways related to Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 ACADM ACADVL HADH HADHA HADHB HSD17B10
2
Show member pathways
12.65 ACADM ACADVL HADH HADHA HADHB
3
Show member pathways
11.93 HADH HADHA HSD17B10
4 11.88 ACADM HADHA HADHB
5
Show member pathways
11.8 ACADM HADH HADHA HADHB HSD17B10
6
Show member pathways
11.62 ACADM ACADVL HADH HADHA HADHB
7 11.45 KRT8 VIM
8
Show member pathways
11.37 ACADM ACADVL HADH HADHA HADHB
9
Show member pathways
11.36 HADH HADHB HSD17B10
10 11.33 HADH HADHA
11
Show member pathways
11.33 HADH HADHA HADHB
12 11.22 ACADM ACADVL HADH
13
Show member pathways
11.13 HADH HADHA
14
Show member pathways
11.08 ACADM ACADVL HADH HADHA HADHB
15
Show member pathways
11.07 ACADM HADHA
16 11.03 ACADM HADHA
17 10.66 HADHA HADHB HSD17B10
18
Show member pathways
9.92 ACADM HADH HADHA HADHB

GO Terms for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Cellular components related to Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.46 ACADM ACADVL HADH HSD17B10
2 mitochondrion GO:0005739 9.43 ACADM ACADVL HADH HADHA HADHB HSD17B10
3 mitochondrial nucleoid GO:0042645 8.8 ACADVL HADHA HADHB

Biological processes related to Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.65 ACADM ACADVL HADH HADHA HSD17B10
2 fatty acid metabolic process GO:0006631 9.55 ACADM ACADVL HADH HADHA HADHB
3 lipid metabolic process GO:0006629 9.5 ACADM ACADVL HADH HADHA HADHB HSD17B10
4 response to insulin GO:0032868 9.4 HADH HADHA
5 response to cold GO:0009409 9.37 ACADM ACADVL
6 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.32 ACADM ACADVL
7 fatty acid beta-oxidation GO:0006635 9.02 ACADM ACADVL HADH HADHA HADHB

Molecular functions related to Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.65 ACADM ACADVL HADH HADHA HSD17B10
2 flavin adenine dinucleotide binding GO:0050660 9.51 ACADM ACADVL
3 scaffold protein binding GO:0097110 9.49 KRT8 VIM
4 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.48 ACADM ACADVL
5 fatty-acyl-CoA binding GO:0000062 9.46 ACADVL HADHA
6 acyl-CoA dehydrogenase activity GO:0003995 9.43 ACADM ACADVL
7 enoyl-CoA hydratase activity GO:0004300 9.4 HADHA HADHB
8 acetyl-CoA C-acyltransferase activity GO:0003988 9.37 HADHA HADHB
9 acetyl-CoA C-acetyltransferase activity GO:0003985 9.32 HADHA HADHB
10 long-chain-enoyl-CoA hydratase activity GO:0016508 9.16 HADHA HADHB
11 long-chain-3-hydroxyacyl-CoA dehydrogenase activity GO:0016509 8.96 HADHA HADHB
12 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 8.92 HADH HADHA HADHB HSD17B10

Sources for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....