MCID: LNG073
MIFTS: 59

Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Categories: Genetic diseases, Rare diseases, Liver diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Metabolic diseases, Endocrine 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 53 24 28
Lchad Deficiency 53 72 49 24 55 71 36 28
Long-Chain 3-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 49 24 55
Aflp 49 55 71
Long-Chain 3-Hydroxy Acyl Coa Dehydrogenase Deficiency 49 24
Long-Chain 3-Oh Acyl-Coa Dehydrogenase Deficiency 49 24
Trifunctional Protein Deficiency, Type 1 24 69
Fatty Liver, Acute, of Pregnancy 53 13
Acute Fatty Liver of Pregnancy 49 55
Trifunctional Protein Deficiency with Myopathy and Neuropathy 69
3-Hydroxyacyl-Coa Dehydrogenase, Long Chain, Deficiency 24
3-Hydroxyacyl-Coa Dehydrogenase Long Chain Deficiency 49
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 55
Long-Chain 3-Hydroxyl-Coa Dehydrogenase Deficiency 71
Trifunctional Protein Deficiency Type 1 49
Maternal Acute Fatty Liver of Pregnancy 71
Hellp Syndrome, Maternal, of Pregnancy 53
Acute Fatty Liver, Gestational 49
Lchadd 55

Characteristics:

Orphanet epidemiological data:

55
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:

31
long-chain 3-hydroxyacyl-coa dehydrogenase deficiency:
Mortality/Aging sudden death


Classifications:



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

NIH Rare Diseases : 49 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.  Last updated: 8/25/2014

MalaCards based summary : Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency, also known as lchad deficiency, is related to 3-hydroxyacyl-coa dehydrogenase deficiency and mitochondrial trifunctional protein deficiency, and has symptoms including seizures, photophobia and intellectual disability. 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 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and superpathway of tryptophan utilization. The drugs Glycerol and Heparin have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and brain, and related phenotypes are cardiovascular system and homeostasis/metabolism

Genetics Home Reference : 24 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).

OMIM : 53 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)

UniProtKB/Swiss-Prot : 71 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).

Wikipedia : 72 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 all 44)
# Related Disease Score Top Affiliating Genes
1 3-hydroxyacyl-coa dehydrogenase deficiency 31.0 ACADM ACADVL HADH HADHA
2 mitochondrial trifunctional protein deficiency 11.6
3 hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency 11.1
4 retinitis 10.4
5 polyneuropathy 10.3
6 hepatitis 10.2
7 reye syndrome 10.2 ACADM HADHA
8 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.2
9 cataract 10.2
10 dilated cardiomyopathy 10.2
11 liver cirrhosis 10.2
12 liver disease 10.2
13 choroiditis 10.2
14 cholestasis 10.2
15 neuropathy 10.2
16 syndromic x-linked intellectual disability type 10 10.2 HADH HSD17B10
17 hypoparathyroidism 10.2
18 chorioretinitis 10.2
19 cardiogenic shock 10.2
20 disseminated intravascular coagulation 10.2
21 pancreatitis 10.1
22 infantile liver failure syndrome 1 10.1
23 hellp syndrome 10.1
24 diabetes insipidus 10.1
25 peliosis hepatis 10.0 HADHA VIM
26 phenylketonuria 10.0 ACADM HADHA
27 plague 10.0
28 pleomorphic liposarcoma 9.9 KRT8 VIM
29 odontoma 9.9 KRT8 VIM
30 fibrolamellar carcinoma 9.9 KRT8 VIM
31 intrahepatic cholestasis 9.9
32 acyl-coa dehydrogenase, very long-chain, deficiency of 9.9 ACADVL HADH HADHA
33 secretory meningioma 9.9 KRT8 VIM
34 acyl-coa dehydrogenase, medium-chain, deficiency of 9.9 ACADM ACADVL HADHA
35 atrial standstill 1 9.9 ACADVL HADHA
36 epithelioid sarcoma 9.9 KRT8 VIM
37 angiosarcoma 9.8 KRT8 VIM
38 hypoglycemia 9.8 ACADM ACADVL HADH
39 cystic fibrosis 9.8
40 pancreatic cancer 9.8
41 leishmaniasis 9.8
42 abetalipoproteinemia 9.8 HADHA MTTP
43 oncocytoma 9.8 KRT8 VIM
44 sarcoma, synovial 9.5 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

Clinical features from OMIM:

609016

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

55 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 photophobia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000613
3 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
4 muscular hypotonia 55 31 Frequent (79-30%) HP:0001252
5 failure to thrive 55 31 occasional (7.5%) Occasional (29-5%) HP:0001508
6 global developmental delay 55 31 frequent (33%) Frequent (79-30%) HP:0001263
7 hepatomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002240
8 abnormality of retinal pigmentation 55 31 occasional (7.5%) Occasional (29-5%) HP:0007703
9 retinopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000488
10 hypertrophic cardiomyopathy 55 31 frequent (33%) Frequent (79-30%) HP:0001639
11 hypoglycemia 55 31 Very frequent (99-80%) HP:0001943
12 peripheral neuropathy 55 31 frequent (33%) Frequent (79-30%) HP:0009830
13 feeding difficulties 55 31 occasional (7.5%) Occasional (29-5%) HP:0011968
14 abnormal electroretinogram 55 31 frequent (33%) Frequent (79-30%) HP:0000512
15 myopia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000545
16 cholestatic liver disease 55 31 occasional (7.5%) Occasional (29-5%) HP:0002611
17 nyctalopia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000662
18 visual loss 55 31 frequent (33%) Frequent (79-30%) HP:0000572
19 generalized hypotonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001290
20 exotropia 55 31 frequent (33%) Frequent (79-30%) HP:0000577
21 hypoketotic hypoglycemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001985
22 chorioretinal atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000533
23 posterior staphyloma 55 31 occasional (7.5%) Occasional (29-5%) HP:0030856
24 abnormality of metabolism/homeostasis 55 Frequent (79-30%)
25 cardiomyopathy 31 HP:0001638
26 chorioretinal abnormality 55 Occasional (29-5%)
27 pigmentary retinopathy 31 HP:0000580
28 decreased activity of 3-hydroxyacyl-coa dehydrogenase 31 HP:0100950

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


weakness, myalgia

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 ACADM ACADVL HADHA KRT8 MTTP VIM
2 homeostasis/metabolism MP:0005376 9.5 ACADM ACADVL HADH HADHA KRT8 MTTP
3 liver/biliary system MP:0005370 9.02 ACADM ACADVL HADHA KRT8 MTTP

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
Glycerol Approved, Investigational 56-81-5 753
2
Heparin Approved, Investigational 9005-49-6 46507594 772
3 Tocopherol Approved, Investigational, Nutraceutical
4
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
5 Anticoagulants
6 calcium heparin
7 Calcium, Dietary
8 Fat Emulsions, Intravenous
9 Fibrinolytic Agents
10 Hypoglycemic Agents
11 insulin
12 Insulin, Globin Zinc
13 Parenteral Nutrition Solutions
14 Pharmaceutical Solutions
15 Protective Agents
16 Soybean oil, phospholipid emulsion
17 Antioxidants
18 Micronutrients
19 Tocopherols
20 Tocotrienols
21 Trace Elements
22 Vitamins
23 Soy Bean Nutraceutical
24 pyruvate Nutraceutical
25 Tocotrienol Investigational, Nutraceutical 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 Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
4 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
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

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 28 HADHA
2 Lchad Deficiency 28

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

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

38
Liver, Eye, Brain, 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 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
Ultra-Wide-Field Autofluorescence in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Chorioretinopathy. ( 27078015 )
2016
3
Early dietary therapy for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency can maintain vision despite subnormal retinal function. ( 27639177 )
2016
4
An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence? ( 27769081 )
2016
5
Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 26676313 )
2016
6
Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients. ( 26653362 )
2016
7
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report. ( 26896063 )
2016
8
Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function. ( 27461099 )
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
Patient specific induced pluripotent stem cells derived RPE cells: understanding the pathogenesis of retinopathy in LCHAD deficiency. ( 24894396 )
2014
14
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
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
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland. ( 20814823 )
2010
19
Perioperative management of a child with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. ( 20470346 )
2010
20
Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. ( 20583174 )
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
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
Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: presentation of a long-term survivor. ( 18465739 )
2008
25
Ophthalmologic abnormalities in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Presentation of a long-term survivor. ( 28221621 )
2008
26
[Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and choroidal neovascularization]. ( 19107076 )
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
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12809642 )
2003
34
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
35
Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12971430 )
2003
36
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). ( 12660866 )
2003
37
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
38
What is the role of medium-chain triglycerides in the management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency? ( 12971423 )
2003
39
Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12872842 )
2003
40
[LCHAD (long-chain 3-hydroxyacyl-CoA dehydrogenase) deficiency as a cause of sudden death of a three months old infant]. ( 12637776 )
2002
41
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. ( 11773547 )
2002
42
Preimplantation diagnosis for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 12537820 )
2001
43
Placental floor infarction complicating the pregnancy of a fetus with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. ( 11243734 )
2001
44
Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 11719334 )
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
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. ( 10229030 )
1999
49
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a case example in developmental disabilities. ( 10638050 )
1999
50
Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications. ( 10331463 )
1999

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

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

71
# 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 all 28)
# 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.180+3A> G single nucleotide variant Pathogenic rs781222705 GRCh37 Chromosome 2, 26461799: 26461799
3 HADHA NM_000182.4(HADHA): c.157C> T (p.Arg53Ter) single nucleotide variant Pathogenic rs147103714 GRCh37 Chromosome 2, 26461825: 26461825
4 HADHA NM_000182.4(HADHA): c.1981_1999del19 (p.Leu661Serfs) deletion Likely pathogenic rs749848370 GRCh37 Chromosome 2, 26415180: 26415198
5 HADHA NM_000182.4(HADHA): c.1967delT (p.Leu656Terfs) deletion Pathogenic/Likely pathogenic rs779113356 GRCh37 Chromosome 2, 26415212: 26415212
6 HADHA NM_000182.4(HADHA): c.1793_1794delAT (p.His598Argfs) deletion Likely pathogenic rs769580842 GRCh37 Chromosome 2, 26416537: 26416538
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.274_278delTCATC (p.Ser92Lysfs) deletion Pathogenic/Likely pathogenic rs781205883 GRCh37 Chromosome 2, 26459759: 26459763
9 HADHA NM_000182.4(HADHA): c.919-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs200017313 GRCh37 Chromosome 2, 26435497: 26435497
10 HADHA NM_000182.4(HADHA): c.1918C> T (p.Gln640Ter) single nucleotide variant Pathogenic rs794727198 GRCh37 Chromosome 2, 26415261: 26415261
11 HADHA NM_000182.4(HADHA): c.2146+1G> A single nucleotide variant Pathogenic rs794727219 GRCh37 Chromosome 2, 26414351: 26414351
12 HADHA NM_000182.4(HADHA): c.403A> G (p.Lys135Glu) single nucleotide variant Likely pathogenic rs794727700 GRCh37 Chromosome 2, 26457135: 26457135
13 HADHA NM_000182.4(HADHA): c.2146+2T> C single nucleotide variant Likely pathogenic rs1057516350 GRCh37 Chromosome 2, 26414350: 26414350
14 HADHA NM_000182.4(HADHA): c.2071G> T (p.Glu691Ter) single nucleotide variant Likely pathogenic rs1057517132 GRCh38 Chromosome 2, 26191558: 26191558
15 HADHA NM_000182.4(HADHA): c.1915_1918delTATC (p.Tyr639Argfs) deletion Likely pathogenic rs1057517397 GRCh38 Chromosome 2, 26192392: 26192395
16 HADHA NM_000182.4(HADHA): c.1811delG (p.Gly604Alafs) deletion Pathogenic/Likely pathogenic rs747985669 GRCh37 Chromosome 2, 26416520: 26416520
17 HADHA NM_000182.4(HADHA): c.1690-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs1057516217 GRCh37 Chromosome 2, 26416643: 26416643
18 HADHA NM_000182.4(HADHA): c.1590delC (p.Lys531Serfs) deletion Likely pathogenic rs1057516991 GRCh37 Chromosome 2, 26417991: 26417991
19 HADHA NM_000182.4(HADHA): c.1344_1345delGT (p.Phe449Terfs) deletion Likely pathogenic rs1057516734 GRCh38 Chromosome 2, 26201196: 26201197
20 HADHA NM_000182.4(HADHA): c.1237A> T (p.Lys413Ter) single nucleotide variant Likely pathogenic rs1057516461 GRCh37 Chromosome 2, 26424173: 26424173
21 HADHA NM_000182.4(HADHA): c.1221-1G> C single nucleotide variant Likely pathogenic rs1057516233 GRCh38 Chromosome 2, 26201321: 26201321
22 HADHA NM_000182.4(HADHA): c.1202delA (p.Gln401Argfs) deletion Likely pathogenic rs1057517087 GRCh38 Chromosome 2, 26204080: 26204080
23 HADHA NM_000182.4(HADHA): c.1086-3_1092del10 deletion Likely pathogenic rs1057516460 GRCh38 Chromosome 2, 26204190: 26204199
24 HADHA NM_000182.4(HADHA): c.1052delA (p.Lys351Argfs) deletion Likely pathogenic rs1057516556 GRCh38 Chromosome 2, 26209813: 26209813
25 HADHA NM_000182.4(HADHA): c.515delC (p.Pro172Leufs) deletion Likely pathogenic rs1057517282 GRCh37 Chromosome 2, 26455086: 26455086
26 HADHA NM_000182.4(HADHA): c.453+1G> A single nucleotide variant Likely pathogenic rs1057516417 GRCh37 Chromosome 2, 26457084: 26457084
27 HADHA NM_000182.4(HADHA): c.240G> A (p.Trp80Ter) single nucleotide variant Likely pathogenic rs1057516326 GRCh38 Chromosome 2, 26236929: 26236929
28 HADHA NM_000182.4(HADHA): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs1057517430 GRCh37 Chromosome 2, 26467464: 26467464

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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.53 ACADM ACADVL HADH HADHA
2
Show member pathways
11.85 HADH HADHA HSD17B10
3
Show member pathways
11.69 ACADM HADH HADHA HSD17B10
4 11.53 ACADM HADH
5
Show member pathways
11.52 ACADM ACADVL HADH HADHA
6 11.43 KRT8 VIM
7 11.32 HADH HADHA
8
Show member pathways
11.26 HADH HSD17B10
9
Show member pathways
11.21 HADH HADHA
10 11.19 ACADM ACADVL HADH
11
Show member pathways
11.09 HADH HADHA
12
Show member pathways
11.08 ACADM ACADVL HADH HADHA
13
Show member pathways
11.03 ACADM HADHA
14 10.98 ACADM HADHA
15
Show member pathways
10.65 ACADM ACADVL HADH HADHA
16 10.52 HADHA HSD17B10
17
Show member pathways
10.33 ACADM HADH HADHA

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 inner membrane GO:0005743 9.43 ACADVL HADH HADHA
2 mitochondrion GO:0005739 9.35 ACADM ACADVL HADH HADHA HSD17B10
3 mitochondrial nucleoid GO:0042645 9.16 ACADVL HADHA
4 mitochondrial matrix GO:0005759 8.92 ACADM ACADVL HADH HSD17B10

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 9.46 ACADM ACADVL HADH HADHA
3 lipid metabolic process GO:0006629 9.43 ACADM ACADVL HADH HADHA HSD17B10 MTTP
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 8.92 ACADM ACADVL HADH HADHA

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 flavin adenine dinucleotide binding GO:0050660 9.37 ACADM ACADVL
2 oxidoreductase activity GO:0016491 9.35 ACADM ACADVL HADH HADHA HSD17B10
3 scaffold protein binding GO:0097110 9.32 KRT8 VIM
4 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.26 ACADM ACADVL
5 acyl-CoA dehydrogenase activity GO:0003995 9.16 ACADM ACADVL
6 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 8.8 HADH HADHA HSD17B10

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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