LCHAD DEFICIENCY
MCID: LNG073
MIFTS: 60

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 58 26 30 6 41
Lchad Deficiency 58 77 54 26 60 76 38 30 6
Long-Chain 3-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 54 26 60
Aflp 54 60 76
Long-Chain 3-Hydroxy Acyl Coa Dehydrogenase Deficiency 54 26
Long-Chain 3-Oh Acyl-Coa Dehydrogenase Deficiency 54 26
Trifunctional Protein Deficiency, Type 1 26 74
Fatty Liver, Acute, of Pregnancy 58 13
Acute Fatty Liver of Pregnancy 54 60
Trifunctional Protein Deficiency with Myopathy and Neuropathy 74
3-Hydroxyacyl-Coa Dehydrogenase, Long Chain, Deficiency 26
3-Hydroxyacyl-Coa Dehydrogenase Long Chain Deficiency 54
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60
Long-Chain 3-Hydroxyl-Coa Dehydrogenase Deficiency 76
Maternal Acute Fatty Liver of Pregnancy 76
Hellp Syndrome, Maternal, of Pregnancy 58
Acute Fatty Liver, Gestational 54
Lchadd 60

Characteristics:

Orphanet epidemiological data:

60
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:

33
long-chain 3-hydroxyacyl-coa dehydrogenase deficiency:
Mortality/Aging sudden death


Classifications:



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

UniProtKB/Swiss-Prot : 76 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 Heparin and Glycerol have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and skin, and related phenotypes are photophobia and hypoketotic hypoglycemia

Genetics Home Reference : 26 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 : 54 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 : 58 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 : 77 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 95)
# Related Disease Score Top Affiliating Genes
1 mitochondrial trifunctional protein deficiency 32.4 GAREM2 HADHA HADHB
2 3-hydroxyacyl-coa dehydrogenase deficiency 31.3 ACADM ACADVL HADH HADHA
3 peripheral nervous system disease 10.5
4 neuropathy 10.5
5 polyneuropathy 10.4
6 fundus dystrophy 10.4
7 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.3
8 cataract 10.3
9 dilated cardiomyopathy 10.3
10 liver cirrhosis 10.3
11 liver disease 10.3
12 cholestasis 10.3
13 fatty liver disease 10.3
14 myoglobinuria, recurrent 10.3
15 myoglobinuria 10.3
16 hypoparathyroidism 10.3
17 cardiogenic shock 10.3
18 disseminated intravascular coagulation 10.3
19 hellp syndrome 10.3
20 hepatitis 10.2
21 pancreatitis 10.2
22 hyperinsulinemic hypoglycemia, familial, 6 10.2 HADH HADHA
23 tetralogy of fallot 10.2
24 polycythemia vera 10.2
25 mediastinal endodermal sinus tumors 10.2
26 infantile liver failure syndrome 1 10.2
27 diabetes insipidus 10.2
28 syndromic x-linked intellectual disability type 10 10.2 HADH HSD17B10
29 argyria 10.2
30 d-bifunctional protein deficiency 10.1 HADH HADHB
31 carnitine palmitoyltransferase ii deficiency, infantile 10.1 ACADVL HADHB
32 pulmonary alveolar microlithiasis 10.1
33 plague 10.1
34 peliosis hepatis 10.1 HADHA VIM
35 reye syndrome 10.1 ACADM HADHA
36 maple syrup urine disease 10.1
37 homocystinuria 10.1
38 adenoid squamous cell carcinoma 10.1 KRT8 VIM
39 pleomorphic liposarcoma 10.0 KRT8 VIM
40 acute liver failure 10.0
41 intrahepatic cholestasis of pregnancy 10.0
42 hepatic coma 10.0
43 cowden syndrome 1 10.0
44 ruvalcaba syndrome 10.0
45 hemophagocytic lymphohistiocytosis 10.0
46 myopathy 10.0
47 odontoma 10.0 KRT8 VIM
48 epithelioid sarcoma 9.9 KRT8 VIM
49 carnitine palmitoyltransferase i deficiency 9.9 ACADVL HADH HADHA
50 angiosarcoma 9.9 KRT8 VIM

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

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

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000613
2 hypoketotic hypoglycemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001985
3 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
4 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
5 hypertrophic cardiomyopathy 60 33 frequent (33%) Frequent (79-30%) HP:0001639
6 peripheral neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0009830
7 abnormal electroretinogram 60 33 frequent (33%) Frequent (79-30%) HP:0000512
8 visual loss 60 33 frequent (33%) Frequent (79-30%) HP:0000572
9 exotropia 60 33 frequent (33%) Frequent (79-30%) HP:0000577
10 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
11 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
12 failure to thrive 60 33 occasional (7.5%) Occasional (29-5%) HP:0001508
13 abnormality of retinal pigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007703
14 retinopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000488
15 feeding difficulties 60 33 occasional (7.5%) Occasional (29-5%) HP:0011968
16 myopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000545
17 cholestatic liver disease 60 33 occasional (7.5%) Occasional (29-5%) HP:0002611
18 nyctalopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000662
19 generalized hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001290
20 chorioretinal atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000533
21 posterior staphyloma 60 33 occasional (7.5%) Occasional (29-5%) HP:0030856
22 muscular hypotonia 60 33 Frequent (79-30%) HP:0001252
23 hypoglycemia 60 33 Very frequent (99-80%) HP:0001943
24 abnormality of metabolism/homeostasis 60 Frequent (79-30%)
25 cardiomyopathy 33 HP:0001638
26 chorioretinal abnormality 60 Occasional (29-5%)
27 pigmentary retinopathy 33 HP:0000580
28 decreased activity of 3-hydroxyacyl-coa dehydrogenase 33 HP:0100950

Clinical features from OMIM:

609016

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:

47
# 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 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational Not Applicable 9005-49-6 772 46507594
2
Glycerol Approved, Investigational Not Applicable 56-81-5 753
3
Tocopherol Approved, Investigational Not Applicable 1406-66-2 14986
4
Calcium Approved, Nutraceutical Not Applicable 7440-70-2 271
5
Vitamin E Approved, Nutraceutical, Vet_approved Not Applicable 59-02-9 14985
6 Tocotrienol Investigational Not Applicable 6829-55-6
7 Hypoglycemic Agents Not Applicable
8 calcium heparin Not Applicable
9 Fibrinolytic Agents Not Applicable
10 Parenteral Nutrition Solutions Not Applicable
11 Fat Emulsions, Intravenous Not Applicable
12 Soy Bean Not Applicable
13 Insulin, Globin Zinc Not Applicable
14 Soybean oil, phospholipid emulsion Not Applicable
15 Anticoagulants Not Applicable
16 insulin Not Applicable
17 Calcium, Dietary Not Applicable
18 Pharmaceutical Solutions Not Applicable
19 Protective Agents Not Applicable
20 pyruvate
21 Micronutrients Not Applicable
22 Tocotrienols Not Applicable
23 Trace Elements Not Applicable
24 Vitamins Not Applicable
25 Nutrients Not Applicable
26 Tocopherols Not Applicable
27 Antioxidants Not Applicable

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 Fatty Acid Oxidation Defects and Insulin Sensitivity Recruiting NCT02517307 Not Applicable Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
4 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable
5 Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism Available NCT01461304 triheptanoin
6 Vitamin E Treatment for Long-Chain 3-Hydroxyacyl Coenzyme A (CoA) Dehydrogenase (LCHAD) Associated Neuropathy Terminated NCT00840112 Not Applicable

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 30 HADHA
2 Lchad Deficiency 30

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

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

42
Liver, Eye, Skin, Testes, Skeletal Muscle

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

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

(show top 50) (show all 84)
# Title Authors Year
1
Erratum to "Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients" [Eur J Paediatr Neuro 20 (2016) 38-44]. ( 30642532 )
2019
2
Collapsing glomerulopathy in a child with LCHAD deficiency: a rare association. ( 30747351 )
2019
3
Follow-up and multimodal imaging in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 30364125 )
2018
4
Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. ( 30029694 )
2018
5
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
6
Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function. ( 27461099 )
2016
7
Ultra-Wide-Field Autofluorescence in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Chorioretinopathy. ( 27078015 )
2016
8
An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence? ( 27769081 )
2016
9
Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients. ( 26653362 )
2016
10
Early dietary therapy for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency can maintain vision despite subnormal retinal function. ( 27639177 )
2016
11
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report. ( 26896063 )
2016
12
Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 26676313 )
2016
13
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
14
Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. ( 26024122 )
2015
15
Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency. ( 26545880 )
2015
16
Erratum to: increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast. ( 25413955 )
2015
17
Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast. ( 25141826 )
2014
18
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
19
Patient specific induced pluripotent stem cells derived RPE cells: understanding the pathogenesis of retinopathy in LCHAD deficiency. ( 24894396 )
2014
20
Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. ( 23430524 )
2013
21
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia. ( 23430857 )
2012
22
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. ( 21103935 )
2011
23
Perioperative management of a child with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. ( 20470346 )
2010
24
Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy - a common feature of the pregnancy complication? ( 20363656 )
2010
25
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland. ( 20814823 )
2010
26
Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. ( 20583174 )
2010
27
Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency. ( 18408953 )
2009
28
EFFECT OF FEEDING, EXERCISE AND GENOTYPE ON PLASMA 3-HYDROXYACYLCARNITINES IN CHILDREN WITH LCHAD DEFICIENCY. ( 20589231 )
2009
29
[Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and choroidal neovascularization]. ( 19107076 )
2008
30
Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: presentation of a long-term survivor. ( 18465739 )
2008
31
Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Presentation of a long-term survivor. ( 28221621 )
2008
32
Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up. ( 18162058 )
2008
33
Increased lipolysis in LCHAD deficiency. ( 17160563 )
2007
34
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with inadvertent caries in infants. ( 17181583 )
2007
35
Homogeneous amplification nucleobase quenching assay to detect the E474Q LCHAD deficiency mutation. ( 15857179 )
2005
36
Maternal acute fatty liver of pregnancy and the associated risk for long-chain 3-hydroxyacyl-coenzyme a dehydrogenase (LCHAD) deficiency in infants. ( 14988877 )
2004
37
Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12872842 )
2003
38
What is the role of medium-chain triglycerides in the management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency? ( 12971423 )
2003
39
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
40
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). ( 12660866 )
2003
41
Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12971430 )
2003
42
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12809642 )
2003
43
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
44
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. ( 11773547 )
2002
45
[LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency as a cause of sudden death of a three months old infant]. ( 12637776 )
2002
46
Preimplantation diagnosis for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12537820 )
2001
47
Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 11719334 )
2001
48
Placental floor infarction complicating the pregnancy of a fetus with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. ( 11243734 )
2001
49
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings. ( 10653342 )
2000
50
Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders. ( 10682306 )
2000

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

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

76
# 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 232)
# Gene Variation Type Significance SNP ID Assembly Location
1 HADHA NM_000182.4(HADHA): c.1981_1999del19 (p.Leu661Serfs) deletion Likely pathogenic rs749848370 GRCh37 Chromosome 2, 26415180: 26415198
2 HADHA NM_000182.4(HADHA): c.1981_1999del19 (p.Leu661Serfs) deletion Likely pathogenic rs749848370 GRCh38 Chromosome 2, 26192311: 26192329
3 HADHA NM_000182.4(HADHA): c.1967delT (p.Leu656Terfs) deletion Pathogenic/Likely pathogenic rs779113356 GRCh37 Chromosome 2, 26415212: 26415212
4 HADHA NM_000182.4(HADHA): c.1967delT (p.Leu656Terfs) deletion Pathogenic/Likely pathogenic rs779113356 GRCh38 Chromosome 2, 26192343: 26192343
5 HADHA NM_000182.4(HADHA): c.1793_1794delAT (p.His598Argfs) deletion Likely pathogenic rs769580842 GRCh37 Chromosome 2, 26416537: 26416538
6 HADHA NM_000182.4(HADHA): c.1793_1794delAT (p.His598Argfs) deletion Likely pathogenic rs769580842 GRCh38 Chromosome 2, 26193668: 26193669
7 HADHA NM_000182.4(HADHA): c.703C> T (p.Arg235Trp) single nucleotide variant Likely pathogenic rs786204607 GRCh37 Chromosome 2, 26438018: 26438018
8 HADHA NM_000182.4(HADHA): c.703C> T (p.Arg235Trp) single nucleotide variant Likely pathogenic rs786204607 GRCh38 Chromosome 2, 26215149: 26215149
9 HADHA NM_000182.4(HADHA): c.274_278delTCATC (p.Ser92Lysfs) deletion Pathogenic/Likely pathogenic rs781205883 GRCh37 Chromosome 2, 26459759: 26459763
10 HADHA NM_000182.4(HADHA): c.274_278delTCATC (p.Ser92Lysfs) deletion Pathogenic/Likely pathogenic rs781205883 GRCh38 Chromosome 2, 26236891: 26236895
11 HADHA NM_000182.4(HADHA): c.919-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs200017313 GRCh37 Chromosome 2, 26435497: 26435497
12 HADHA NM_000182.4(HADHA): c.919-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs200017313 GRCh38 Chromosome 2, 26212628: 26212628
13 HADHA NM_000182.4(HADHA): c.2146+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs794727219 GRCh37 Chromosome 2, 26414351: 26414351
14 HADHA NM_000182.4(HADHA): c.2146+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs794727219 GRCh38 Chromosome 2, 26191482: 26191482
15 HADHA NM_000182.4(HADHA): c.403A> G (p.Lys135Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs794727700 GRCh37 Chromosome 2, 26457135: 26457135
16 HADHA NM_000182.4(HADHA): c.403A> G (p.Lys135Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs794727700 GRCh38 Chromosome 2, 26234267: 26234267
17 HADHA NM_000182.4(HADHA): c.1690-6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs111662358 GRCh37 Chromosome 2, 26416647: 26416647
18 HADHA NM_000182.4(HADHA): c.1690-6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs111662358 GRCh38 Chromosome 2, 26193778: 26193778
19 HADHA NM_000182.4(HADHA): c.1392+10G> A single nucleotide variant Benign/Likely benign rs60085478 GRCh37 Chromosome 2, 26424008: 26424008
20 HADHA NM_000182.4(HADHA): c.1392+10G> A single nucleotide variant Benign/Likely benign rs60085478 GRCh38 Chromosome 2, 26201139: 26201139
21 HADHA NM_000182.4(HADHA): c.982G> A (p.Gly328Arg) single nucleotide variant Uncertain significance rs796051970 GRCh37 Chromosome 2, 26432752: 26432752
22 HADHA NM_000182.4(HADHA): c.982G> A (p.Gly328Arg) single nucleotide variant Uncertain significance rs796051970 GRCh38 Chromosome 2, 26209883: 26209883
23 HADHA NM_000182.4(HADHA): c.955G> A (p.Gly319Ser) single nucleotide variant Uncertain significance rs752317877 GRCh37 Chromosome 2, 26435459: 26435459
24 HADHA NM_000182.4(HADHA): c.955G> A (p.Gly319Ser) single nucleotide variant Uncertain significance rs752317877 GRCh38 Chromosome 2, 26212590: 26212590
25 HADHA NM_000182.4(HADHA): c.573+8_573+9insT duplication Benign rs112196218 GRCh37 Chromosome 2, 26455020: 26455020
26 HADHA NM_000182.4(HADHA): c.573+8_573+9insT duplication Benign rs112196218 GRCh38 Chromosome 2, 26232152: 26232152
27 HADHA NM_000182.4(HADHA): c.1528G> C (p.Glu510Gln) single nucleotide variant Pathogenic rs137852769 GRCh37 Chromosome 2, 26418053: 26418053
28 HADHA NM_000182.4(HADHA): c.1528G> C (p.Glu510Gln) single nucleotide variant Pathogenic rs137852769 GRCh38 Chromosome 2, 26195184: 26195184
29 HADHA NM_000182.4(HADHA): c.1132C> T (p.Gln378Ter) single nucleotide variant Likely pathogenic rs137852770 GRCh37 Chromosome 2, 26427019: 26427019
30 HADHA NM_000182.4(HADHA): c.1132C> T (p.Gln378Ter) single nucleotide variant Likely pathogenic rs137852770 GRCh38 Chromosome 2, 26204150: 26204150
31 HADHA NM_000182.4(HADHA): c.180+1G> A single nucleotide variant Likely pathogenic rs786205088 GRCh37 Chromosome 2, 26461801: 26461801
32 HADHA NM_000182.4(HADHA): c.180+1G> A single nucleotide variant Likely pathogenic rs786205088 GRCh38 Chromosome 2, 26238933: 26238933
33 HADHA NM_000182.4(HADHA): c.871C> T (p.Arg291Ter) single nucleotide variant Pathogenic rs137852775 GRCh37 Chromosome 2, 26437359: 26437359
34 HADHA NM_000182.4(HADHA): c.871C> T (p.Arg291Ter) single nucleotide variant Pathogenic rs137852775 GRCh38 Chromosome 2, 26214490: 26214490
35 HADHA NM_000182.4(HADHA): c.157C> T (p.Arg53Ter) single nucleotide variant Pathogenic/Likely pathogenic rs147103714 GRCh37 Chromosome 2, 26461825: 26461825
36 HADHA NM_000182.4(HADHA): c.157C> T (p.Arg53Ter) single nucleotide variant Pathogenic/Likely pathogenic rs147103714 GRCh38 Chromosome 2, 26238957: 26238957
37 HADHA NM_000182.4(HADHA): c.1981C> T (p.Leu661=) single nucleotide variant Conflicting interpretations of pathogenicity rs142348718 GRCh37 Chromosome 2, 26415198: 26415198
38 HADHA NM_000182.4(HADHA): c.1981C> T (p.Leu661=) single nucleotide variant Conflicting interpretations of pathogenicity rs142348718 GRCh38 Chromosome 2, 26192329: 26192329
39 HADHA NM_000182.4(HADHA): c.474C> T (p.Tyr158=) single nucleotide variant Benign rs11552518 GRCh37 Chromosome 2, 26455127: 26455127
40 HADHA NM_000182.4(HADHA): c.474C> T (p.Tyr158=) single nucleotide variant Benign rs11552518 GRCh38 Chromosome 2, 26232259: 26232259
41 HADHA NM_000182.4(HADHA): c.1620+11G> C single nucleotide variant Benign/Likely benign rs112236946 GRCh37 Chromosome 2, 26417950: 26417950
42 HADHA NM_000182.4(HADHA): c.1620+11G> C single nucleotide variant Benign/Likely benign rs112236946 GRCh38 Chromosome 2, 26195081: 26195081
43 HADHA NM_000182.4(HADHA): c.1072C> A (p.Gln358Lys) single nucleotide variant Benign/Likely benign rs2229420 GRCh37 Chromosome 2, 26432662: 26432662
44 HADHA NM_000182.4(HADHA): c.1072C> A (p.Gln358Lys) single nucleotide variant Benign/Likely benign rs2229420 GRCh38 Chromosome 2, 26209793: 26209793
45 HADHA NM_000182.4(HADHA): c.*510A> T single nucleotide variant Likely benign rs13432453 GRCh38 Chromosome 2, 26190740: 26190740
46 HADHA NM_000182.4(HADHA): c.*510A> T single nucleotide variant Likely benign rs13432453 GRCh37 Chromosome 2, 26413609: 26413609
47 HADHA NM_000182.4(HADHA): c.*375_*376delGT deletion Uncertain significance rs886055861 GRCh38 Chromosome 2, 26190874: 26190875
48 HADHA NM_000182.4(HADHA): c.*375_*376delGT deletion Uncertain significance rs886055861 GRCh37 Chromosome 2, 26413743: 26413744
49 HADHA NM_000182.4(HADHA): c.1912A> G (p.Ile638Val) single nucleotide variant Uncertain significance rs545660610 GRCh38 Chromosome 2, 26192398: 26192398
50 HADHA NM_000182.4(HADHA): c.1912A> G (p.Ile638Val) single nucleotide variant Uncertain significance rs545660610 GRCh37 Chromosome 2, 26415267: 26415267

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 ACADM ACADVL HADH HADHA HADHB HSD17B10
2
Show member pathways
12.6 ACADM ACADVL HADH HADHA HADHB
3 11.85 ACADM HADHA HADHB
4
Show member pathways
11.73 ACADM HADH HADHA HADHB HSD17B10
5
Show member pathways
11.58 HADH HADHA HSD17B10
6
Show member pathways
11.54 ACADM ACADVL HADH HADHA HADHB
7 11.43 KRT8 VIM
8 11.31 HADH HADHA
9
Show member pathways
11.3 HADH HADHB HSD17B10
10 11.19 ACADM ACADVL HADH
11
Show member pathways
11.17 ACADM ACADVL HADH HADHA HADHB
12
Show member pathways
11.1 HADH HADHA
13
Show member pathways
11.04 ACADM HADHA
14 11 ACADM HADHA
15
Show member pathways
10.75 ACADM ACADVL HADH HADHA HADHB
16 10.61 HADHA HADHB HSD17B10

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 long-chain-enoyl-CoA hydratase activity GO:0016508 9.16 HADHA HADHB
10 acetyl-CoA C-acetyltransferase activity GO:0003985 9.02 HADHA
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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