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MCID: LNG073
MIFTS: 60

Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Liver diseases, Reproductive diseases, Metabolic diseases, Endocrine diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Liver diseases Reproductive diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases
Rare hepatic diseases
Rare gynaecological and obstetric diseases
Inborn errors of metabolism
Rare endocrine diseases


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

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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 Glycerol 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...

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

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

(show all 34)
# Related Disease Score Top Affiliating Genes
1 mitochondrial trifunctional protein deficiency 32.7 GAREM2 HADHA HADHB
2 3-hydroxyacyl-coa dehydrogenase deficiency 29.9 ACADM ACADVL HADH HADHA
3 hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency 11.1
4 retinitis 10.4
5 d-bifunctional protein deficiency 10.3 HADH HADHB
6 syndromic x-linked intellectual disability type 10 10.3 HADH HSD17B10
7 polyneuropathy 10.3
8 fundus dystrophy 10.3
9 peliosis hepatis 10.2 HADHA VIM
10 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.2
11 cataract 10.2
12 dilated cardiomyopathy 10.2
13 liver cirrhosis 10.2
14 liver disease 10.2
15 choroiditis 10.2
16 cholestasis 10.2
17 peripheral nervous system disease 10.2
18 placenta disease 10.2
19 neuropathy 10.2
20 fatty liver disease 10.2
21 pleomorphic liposarcoma 10.2 KRT8 VIM
22 odontoma 10.2 KRT8 VIM
23 abetalipoproteinemia 10.1 HADHA MTTP
24 carnitine palmitoyltransferase ii deficiency, infantile 10.1 ACADVL HADHB
25 secretory meningioma 10.0 KRT8 VIM
26 epithelioid sarcoma 10.0 KRT8 VIM
27 angiosarcoma 9.9 KRT8 VIM
28 reye syndrome 9.9 ACADM HADHA
29 oncocytoma 9.8 KRT8 VIM
30 phenylketonuria 9.5 ACADM HADHA
31 sarcoma, synovial 9.5 KRT8 VIM
32 acyl-coa dehydrogenase, very long-chain, deficiency of 9.4 ACADVL HADH HADHA HADHB
33 acyl-coa dehydrogenase, medium-chain, deficiency of 9.2 ACADM ACADVL HADHA
34 hypoglycemia 9.1 ACADM ACADVL HADH

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

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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
Sources

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

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

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

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

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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
Sources

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

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

41
Liver, Eye, Skin, Brain, Testes, Skeletal Muscle
Sources

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

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

(show top 50) (show all 80)
# Title Authors Year
1
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
2
Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function. ( 27461099 )
2016
3
Ultra-Wide-Field Autofluorescence in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Chorioretinopathy. ( 27078015 )
2016
4
An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence? ( 27769081 )
2016
5
Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients. ( 26653362 )
2016
6
Early dietary therapy for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency can maintain vision despite subnormal retinal function. ( 27639177 )
2016
7
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report. ( 26896063 )
2016
8
Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 26676313 )
2016
9
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
10
Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. ( 26024122 )
2015
11
Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency. ( 26545880 )
2015
12
Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast. ( 25141826 )
2014
13
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
14
Patient specific induced pluripotent stem cells derived RPE cells: understanding the pathogenesis of retinopathy in LCHAD deficiency. ( 24894396 )
2014
15
Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. ( 23430524 )
2013
16
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia. ( 23430857 )
2012
17
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. ( 21103935 )
2011
18
Perioperative management of a child with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. ( 20470346 )
2010
19
Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy - a common feature of the pregnancy complication? ( 20363656 )
2010
20
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland. ( 20814823 )
2010
21
Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. ( 20583174 )
2010
22
Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency. ( 18408953 )
2009
23
EFFECT OF FEEDING, EXERCISE AND GENOTYPE ON PLASMA 3-HYDROXYACYLCARNITINES IN CHILDREN WITH LCHAD DEFICIENCY. ( 20589231 )
2009
24
[Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and choroidal neovascularization]. ( 19107076 )
2008
25
Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: presentation of a long-term survivor. ( 18465739 )
2008
26
Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Presentation of a long-term survivor. ( 28221621 )
2008
27
Ocular characteristics in 10 children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a cross-sectional study with long-term follow-up. ( 18162058 )
2008
28
Increased lipolysis in LCHAD deficiency. ( 17160563 )
2007
29
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with inadvertent caries in infants. ( 17181583 )
2007
30
Homogeneous amplification nucleobase quenching assay to detect the E474Q LCHAD deficiency mutation. ( 15857179 )
2005
31
Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 15347768 )
2004
32
Maternal acute fatty liver of pregnancy and the associated risk for long-chain 3-hydroxyacyl-coenzyme a dehydrogenase (LCHAD) deficiency in infants. ( 14988877 )
2004
33
Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12872842 )
2003
34
What is the role of medium-chain triglycerides in the management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency? ( 12971423 )
2003
35
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
36
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). ( 12660866 )
2003
37
Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12971430 )
2003
38
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12809642 )
2003
39
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
40
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. ( 11773547 )
2002
41
[LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency as a cause of sudden death of a three months old infant]. ( 12637776 )
2002
42
Preimplantation diagnosis for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12537820 )
2001
43
Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 11719334 )
2001
44
Placental floor infarction complicating the pregnancy of a fetus with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. ( 11243734 )
2001
45
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings. ( 10653342 )
2000
46
Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders. ( 10682306 )
2000
47
Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls. ( 10789927 )
2000
48
Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey. ( 10234607 )
1999
49
Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry. ( 10518286 )
1999
50
Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS). ( 10076877 )
1999
Sources

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

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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 140)
# 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.180+3A> G single nucleotide variant Pathogenic rs781222705 GRCh37 Chromosome 2, 26461799: 26461799
4 HADHA NM_000182.4(HADHA): c.180+3A> G single nucleotide variant Pathogenic rs781222705 GRCh38 Chromosome 2, 26238931: 26238931
5 HADHA NM_000182.4(HADHA): c.871C> T (p.Arg291Ter) single nucleotide variant Pathogenic rs137852775 GRCh37 Chromosome 2, 26437359: 26437359
6 HADHA NM_000182.4(HADHA): c.871C> T (p.Arg291Ter) single nucleotide variant Pathogenic rs137852775 GRCh38 Chromosome 2, 26214490: 26214490
7 HADHA NM_000182.4(HADHA): c.157C> T (p.Arg53Ter) single nucleotide variant Pathogenic/Likely pathogenic rs147103714 GRCh37 Chromosome 2, 26461825: 26461825
8 HADHA NM_000182.4(HADHA): c.157C> T (p.Arg53Ter) single nucleotide variant Pathogenic/Likely pathogenic rs147103714 GRCh38 Chromosome 2, 26238957: 26238957
9 HADHA NM_000182.4(HADHA): c.1981_1999del19 (p.Leu661Serfs) deletion Likely pathogenic rs749848370 GRCh37 Chromosome 2, 26415180: 26415198
10 HADHA NM_000182.4(HADHA): c.1981_1999del19 (p.Leu661Serfs) deletion Likely pathogenic rs749848370 GRCh38 Chromosome 2, 26192311: 26192329
11 HADHA NM_000182.4(HADHA): c.1967delT (p.Leu656Terfs) deletion Pathogenic/Likely pathogenic rs779113356 GRCh37 Chromosome 2, 26415212: 26415212
12 HADHA NM_000182.4(HADHA): c.1967delT (p.Leu656Terfs) deletion Pathogenic/Likely pathogenic rs779113356 GRCh38 Chromosome 2, 26192343: 26192343
13 HADHA NM_000182.4(HADHA): c.1793_1794delAT (p.His598Argfs) deletion Likely pathogenic rs769580842 GRCh37 Chromosome 2, 26416537: 26416538
14 HADHA NM_000182.4(HADHA): c.1793_1794delAT (p.His598Argfs) deletion Likely pathogenic rs769580842 GRCh38 Chromosome 2, 26193668: 26193669
15 HADHA NM_000182.4(HADHA): c.703C> T (p.Arg235Trp) single nucleotide variant Likely pathogenic rs786204607 GRCh37 Chromosome 2, 26438018: 26438018
16 HADHA NM_000182.4(HADHA): c.703C> T (p.Arg235Trp) single nucleotide variant Likely pathogenic rs786204607 GRCh38 Chromosome 2, 26215149: 26215149
17 HADHA NM_000182.4(HADHA): c.274_278delTCATC (p.Ser92Lysfs) deletion Pathogenic/Likely pathogenic rs781205883 GRCh37 Chromosome 2, 26459759: 26459763
18 HADHA NM_000182.4(HADHA): c.274_278delTCATC (p.Ser92Lysfs) deletion Pathogenic/Likely pathogenic rs781205883 GRCh38 Chromosome 2, 26236891: 26236895
19 HADHA NM_000182.4(HADHA): c.919-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs200017313 GRCh37 Chromosome 2, 26435497: 26435497
20 HADHA NM_000182.4(HADHA): c.919-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs200017313 GRCh38 Chromosome 2, 26212628: 26212628
21 HADHA NM_000182.4(HADHA): c.1918C> T (p.Gln640Ter) single nucleotide variant Pathogenic rs794727198 GRCh37 Chromosome 2, 26415261: 26415261
22 HADHA NM_000182.4(HADHA): c.1918C> T (p.Gln640Ter) single nucleotide variant Pathogenic rs794727198 GRCh38 Chromosome 2, 26192392: 26192392
23 HADHA NM_000182.4(HADHA): c.2146+1G> A single nucleotide variant Pathogenic rs794727219 GRCh37 Chromosome 2, 26414351: 26414351
24 HADHA NM_000182.4(HADHA): c.2146+1G> A single nucleotide variant Pathogenic rs794727219 GRCh38 Chromosome 2, 26191482: 26191482
25 HADHA NM_000182.4(HADHA): c.403A> G (p.Lys135Glu) single nucleotide variant Likely pathogenic rs794727700 GRCh37 Chromosome 2, 26457135: 26457135
26 HADHA NM_000182.4(HADHA): c.403A> G (p.Lys135Glu) single nucleotide variant Likely pathogenic rs794727700 GRCh38 Chromosome 2, 26234267: 26234267
27 HADHA NM_000182.4(HADHA): c.1690-6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs111662358 GRCh37 Chromosome 2, 26416647: 26416647
28 HADHA NM_000182.4(HADHA): c.1690-6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs111662358 GRCh38 Chromosome 2, 26193778: 26193778
29 HADHA NM_000182.4(HADHA): c.1392+10G> A single nucleotide variant Benign/Likely benign rs60085478 GRCh37 Chromosome 2, 26424008: 26424008
30 HADHA NM_000182.4(HADHA): c.1392+10G> A single nucleotide variant Benign/Likely benign rs60085478 GRCh38 Chromosome 2, 26201139: 26201139
31 HADHA NM_000182.4(HADHA): c.573+8_573+9insT duplication Benign rs112196218 GRCh37 Chromosome 2, 26455020: 26455020
32 HADHA NM_000182.4(HADHA): c.573+8_573+9insT duplication Benign rs112196218 GRCh38 Chromosome 2, 26232152: 26232152
33 HADHA NM_000182.4(HADHA): c.1072C> A (p.Gln358Lys) single nucleotide variant Benign/Likely benign rs2229420 GRCh37 Chromosome 2, 26432662: 26432662
34 HADHA NM_000182.4(HADHA): c.1072C> A (p.Gln358Lys) single nucleotide variant Benign/Likely benign rs2229420 GRCh38 Chromosome 2, 26209793: 26209793
35 HADHA NM_000182.4(HADHA): c.*510A> T single nucleotide variant Likely benign rs13432453 GRCh38 Chromosome 2, 26190740: 26190740
36 HADHA NM_000182.4(HADHA): c.*510A> T single nucleotide variant Likely benign rs13432453 GRCh37 Chromosome 2, 26413609: 26413609
37 HADHA NM_000182.4(HADHA): c.*375_*376delGT deletion Uncertain significance rs886055861 GRCh38 Chromosome 2, 26190874: 26190875
38 HADHA NM_000182.4(HADHA): c.*375_*376delGT deletion Uncertain significance rs886055861 GRCh37 Chromosome 2, 26413743: 26413744
39 HADHA NM_000182.4(HADHA): c.1912A> G (p.Ile638Val) single nucleotide variant Uncertain significance rs545660610 GRCh38 Chromosome 2, 26192398: 26192398
40 HADHA NM_000182.4(HADHA): c.1912A> G (p.Ile638Val) single nucleotide variant Uncertain significance rs545660610 GRCh37 Chromosome 2, 26415267: 26415267
41 HADHA NM_000182.4(HADHA): c.1794T> C (p.His598=) single nucleotide variant Uncertain significance rs149021400 GRCh38 Chromosome 2, 26193668: 26193668
42 HADHA NM_000182.4(HADHA): c.1794T> C (p.His598=) single nucleotide variant Uncertain significance rs149021400 GRCh37 Chromosome 2, 26416537: 26416537
43 HADHA NM_000182.4(HADHA): c.79C> T (p.Arg27Cys) single nucleotide variant Uncertain significance rs143832445 GRCh37 Chromosome 2, 26462000: 26462000
44 HADHA NM_000182.4(HADHA): c.79C> T (p.Arg27Cys) single nucleotide variant Uncertain significance rs143832445 GRCh38 Chromosome 2, 26239132: 26239132
45 HADHA NM_000182.4(HADHA): c.*302G> A single nucleotide variant Likely benign rs1049987 GRCh38 Chromosome 2, 26190948: 26190948
46 HADHA NM_000182.4(HADHA): c.*302G> A single nucleotide variant Likely benign rs1049987 GRCh37 Chromosome 2, 26413817: 26413817
47 HADHA NM_000182.4(HADHA): c.1690-13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs368557552 GRCh38 Chromosome 2, 26193785: 26193785
48 HADHA NM_000182.4(HADHA): c.1690-13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs368557552 GRCh37 Chromosome 2, 26416654: 26416654
49 HADHA NM_000182.4(HADHA): c.1655C> T (p.Ala552Val) single nucleotide variant Uncertain significance rs369588406 GRCh38 Chromosome 2, 26194604: 26194604
50 HADHA NM_000182.4(HADHA): c.1655C> T (p.Ala552Val) single nucleotide variant Uncertain significance rs369588406 GRCh37 Chromosome 2, 26417473: 26417473
Sources

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

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

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

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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
Metabolism 66
Show member pathways
 13.74 ACADM ACADVL HADH HADHA HADHB HSD17B10
2
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) 66
Show member pathways
 12.65 ACADM ACADVL HADH HADHA HADHB
3
superpathway of tryptophan utilization 1
Show member pathways
 11.93 HADH HADHA HSD17B10
4
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways 1
11.88 ACADM HADHA HADHB
5
Valine, leucine and isoleucine degradation 37
Show member pathways
 11.79 ACADM HADH HADHA HADHB HSD17B10
6
Fatty acid metabolism 37
Show member pathways
 11.62 ACADM ACADVL HADH HADHA HADHB
7
Primary Focal Segmental Glomerulosclerosis FSGS 1
11.45 KRT8 VIM
8
Mitochondrial Fatty Acid Beta-Oxidation 66
Show member pathways
 11.37 ACADM ACADVL HADH HADHA HADHB
9
fatty acid beta-oxidation (peroxisome) 1
Show member pathways
 11.36 HADH HADHB HSD17B10
10
Lysine degradation 37
11.33 HADH HADHA
11
Fatty acid elongation 37
Show member pathways
 11.33 HADH HADHA HADHB
12
FOXA2 and FOXA3 transcription factor networks 1
11.22 ACADM ACADVL HADH
13
Butanoate metabolism 37
Show member pathways
 11.13 HADH HADHA
14
Mitochondrial LC-Fatty Acid Beta-Oxidation 1
Show member pathways
 11.08 ACADM ACADVL HADH HADHA HADHB
15
beta-Alanine metabolism (KEGG) 37
Show member pathways
 11.07 ACADM HADHA
16
Propanoate metabolism 37
11.03 ACADM HADHA
17
Valproic acid pathway 1
10.66 HADHA HADHB HSD17B10
18
Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA 66
Show member pathways
 9.92 ACADM HADH HADHA HADHB
Sources

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

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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 mitochondrion GO:0005739 9.63 ACADM ACADVL HADH HADHA HADHB HSD17B10
2 mitochondrial inner membrane GO:0005743 9.56 ACADVL HADH HADHA HADHB
3 mitochondrial matrix GO:0005759 9.26 ACADM ACADVL HADH HSD17B10
4 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 9.72 ACADM ACADVL HADH HADHA HSD17B10
2 metabolic process GO:0008152 9.71 ACADM ACADVL HADHA HADHB
3 fatty acid metabolic process GO:0006631 9.55 ACADM ACADVL HADH HADHA HADHB
4 lipid metabolic process GO:0006629 9.5 ACADM ACADVL HADH HADHA HADHB HSD17B10
5 response to cold GO:0009409 9.43 ACADM ACADVL
6 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.37 ACADM ACADVL
7 cardiolipin acyl-chain remodeling GO:0035965 9.26 HADHA HADHB
8 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:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.55 ACADM ACADVL HADH HADHA HSD17B10
2 flavin adenine dinucleotide binding GO:0050660 9.48 ACADM ACADVL
3 scaffold protein binding GO:0097110 9.46 KRT8 VIM
4 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.43 ACADM ACADVL
5 fatty-acyl-CoA binding GO:0000062 9.4 ACADVL HADHA
6 acyl-CoA dehydrogenase activity GO:0003995 9.37 ACADM ACADVL
7 enoyl-CoA hydratase activity GO:0004300 9.32 HADHA HADHB
8 acetyl-CoA C-acyltransferase activity GO:0003988 9.26 HADHA HADHB
9 long-chain-3-hydroxyacyl-CoA dehydrogenase activity GO:0016509 8.96 HADHA HADHB
10 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 8.92 HADH HADHA HADHB HSD17B10
Sources

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

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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