LCHAD DEFICIENCY
MCID: LNG073
MIFTS: 58

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 43 29 6 39
Lchad Deficiency 57 73 20 43 58 72 36 29 6
Long-Chain 3-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 20 43 58
Aflp 20 58 72
Long-Chain 3-Hydroxy Acyl Coa Dehydrogenase Deficiency 20 43
Long-Chain 3-Oh Acyl-Coa Dehydrogenase Deficiency 20 43
Trifunctional Protein Deficiency, Type 1 43 70
Fatty Liver, Acute, of Pregnancy 57 13
Acute Fatty Liver of Pregnancy 20 58
Trifunctional Protein Deficiency with Myopathy and Neuropathy 70
3-Hydroxyacyl-Coa Dehydrogenase, Long Chain, Deficiency 43
3-Hydroxyacyl-Coa Dehydrogenase Long Chain Deficiency 20
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 58
Long-Chain 3-Hydroxyl-Coa Dehydrogenase Deficiency 72
Maternal Acute Fatty Liver of Pregnancy 72
Trifunctional Protein Deficiency Type 1 6
Hellp Syndrome, Maternal, of Pregnancy 57
Acute Fatty Liver, Gestational 20
Lchadd 58

Characteristics:

Orphanet epidemiological data:

58
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;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
sudden, unexplained death (in some patients)
age at presentation - mean 5.8 months (range 1 day-26 months)
episodic illness precipitated by fasting or illness


HPO:

31
long-chain 3-hydroxyacyl-coa dehydrogenase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare hepatic diseases
Rare gynaecological and obstetric diseases
Inborn errors of metabolism
Rare endocrine diseases


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

MedlinePlus Genetics : 43 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).Signs and symptoms of LCHAD deficiency typically appear during infancy or early childhood and can include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia), liver problems, and abnormalities in the light-sensitive tissue at the back of the eye (retina). Later in childhood, people with this condition may experience muscle pain, breakdown of muscle tissue, and a loss of sensation in their arms and legs (peripheral neuropathy). Individuals with LCHAD deficiency are also at risk for serious heart problems, breathing difficulties, coma, and sudden death.Problems related to LCHAD deficiency can be triggered when the body is under stress, for example during periods of fasting, illnesses such as viral infections, or weather extremes. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.

MalaCards based summary : Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency, also known as lchad deficiency, is related to acyl-coa dehydrogenase deficiency and reye syndrome, 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). Affiliated tissues include liver, eye and retina, and related phenotypes are photophobia and hypoketotic hypoglycemia

GARD : 20 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) (Updated 20-May-2021)

KEGG : 36 Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is an autosomal recessive disorder affecting mitochondrial fatty acid oxidation due to mutations in the HADHA gene. It is characterized by hypo-ketotic hypoglycemia, vomiting, lethargy, hypotonia, and hepatomegaly. In addition, patients may present with cardiomyopathy, peripheral neuropathy, retinopathy, seizures, coma, and sudden infant death (SIDS). Acute fatty liver of pregnancy and the HELLP syndrome (hemolysis, elevated liver-enzyme levels, and a low platelet count) are serious hepatic disorders that may occur during pregnancy in women whose fetuses are later found to have a LCHAD deficiency.

UniProtKB/Swiss-Prot : 72 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 : 73 Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, is a rare autosomal recessive fatty acid... 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 229)
# Related Disease Score Top Affiliating Genes
1 acyl-coa dehydrogenase deficiency 31.0 ACADVL ACADM
2 reye syndrome 30.7 HMGCL ACADM
3 fatty liver disease 30.7 MTTP HADHA ACADM
4 hypoglycemia 30.4 HMGCL HADHB HADHA HADH ACADVL ACADM
5 myoglobinuria 30.3 HADH ACADVL
6 mitochondrial trifunctional protein deficiency 30.3 HADHB HADHA HADH GAREM2 ACADVL ACADM
7 acyl-coa dehydrogenase, medium-chain, deficiency of 30.2 HADHA HADH ACADVL ACADM
8 acyl-coa dehydrogenase, very long-chain, deficiency of 29.8 HADHB HADHA HADH ACADVL ACADM
9 acyl-coa dehydrogenase, short-chain, deficiency of 29.8 HADHA HADH ACADVL ACADM
10 abetalipoproteinemia 29.6 MTTP HADHB HADHA
11 maple syrup urine disease 29.5 HMGCL HADHA HADH ACADM
12 3-hydroxyacyl-coa dehydrogenase deficiency 29.1 VIM MTTP KRT8 HSD17B10 HMGCL HADHA
13 disseminated intravascular coagulation 10.7
14 peripheral nervous system disease 10.7
15 neuropathy 10.7
16 acute liver failure 10.7
17 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.7
18 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.7
19 hypotonia 10.7
20 encephalopathy 10.6
21 abdominal obesity-metabolic syndrome 1 10.6
22 non-alcoholic fatty liver disease 10.6
23 pre-eclampsia 10.6
24 myopia 10.6
25 liver disease 10.6
26 myopathy 10.6
27 acute kidney failure 10.5
28 ocular motor apraxia 10.5
29 abnormal hair, joint laxity, and developmental delay 10.5
30 yemenite deaf-blind hypopigmentation syndrome 10.5
31 hellp syndrome 10.5
32 lactic acidosis 10.5
33 placenta disease 10.5
34 cataract 10.5
35 diabetes insipidus 10.5
36 intrahepatic cholestasis of pregnancy 10.4
37 viral hepatitis 10.4
38 bilirubin metabolic disorder 10.4
39 severe pre-eclampsia 10.4
40 acute pancreatitis 10.4
41 pancreatitis 10.4
42 hypertrophic cardiomyopathy 10.4
43 placental insufficiency 10.4
44 axonal neuropathy 10.4
45 exudative vitreoretinopathy 1 10.3
46 hyperphosphatemia 10.3
47 cone dystrophy 10.3
48 hypoparathyroidism 10.3
49 peroxisomal disease 10.3
50 cardiogenic shock 10.3

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:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
2 hypoketotic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001985
3 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
4 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
5 abnormal electroretinogram 58 31 frequent (33%) Frequent (79-30%) HP:0000512
6 hypertrophic cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001639
7 peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0009830
8 visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000572
9 exotropia 58 31 frequent (33%) Frequent (79-30%) HP:0000577
10 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
11 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
12 abnormality of retinal pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007703
13 retinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000488
14 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
15 cholestatic liver disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0002611
16 nyctalopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000662
17 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
18 generalized hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001290
19 posterior staphyloma 58 31 occasional (7.5%) Occasional (29-5%) HP:0030856
20 chorioretinal atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000533
21 seizure 31 occasional (7.5%) HP:0001250
22 hypoglycemia 58 31 Very frequent (99-80%) HP:0001943
23 seizures 58 Occasional (29-5%)
24 muscular hypotonia 58 Frequent (79-30%)
25 chorioretinal abnormality 58 Occasional (29-5%)
26 abnormality of metabolism/homeostasis 58 Frequent (79-30%)
27 cardiomyopathy 31 HP:0001638
28 pigmentary retinopathy 31 HP:0000580
29 sudden death 31 HP:0001699
30 hypotonia 31 HP:0001252
31 decreased 3-hydroxyacyl-coa dehydrogenase level 31 HP:0100950

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
microcephaly
coma
hypotonia

Abdomen Liver:
hepatomegaly
cholestatic liver disease
hepatic failure
fatty liver

Abdomen Gastrointestinal:
vomiting
feeding problems

Cardiovascular Heart:
cardiomyopathy
arrhythmias

Metabolic Features:
hypoketotic hypoglycemia
recurrent metabolic crises

Laboratory Abnormalities:
increased liver enzymes
elevated creatine kinase
elevated ammonia
deficiency of long-chain 3-hydroxyacyl-coa dehydrogenase
elevated urinary 3-hydroxy-dicarboxylic acids
more
Growth Other:
failure to thrive

Head And Neck Eyes:
visual impairment
pigmentary retinopathy

Neurologic Peripheral Nervous System:
peripheral neuropathy

Prenatal Manifestations Maternal:
hyperemesis gravidarum
hellp (hemolysis, elevated liver enzymes, low platelets) syndrome
aflp (acute fatty liver of pregnancy)

Muscle Soft Tissue:
muscle cramps

Clinical features from OMIM®:

609016 (Updated 20-May-2021)

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 9.86 ACADM ACADVL HADHA HADHB HMGCL KRT8
2 homeostasis/metabolism MP:0005376 9.81 ACADM ACADVL HADH HADHA HADHB HMGCL
3 liver/biliary system MP:0005370 9.5 ACADM ACADVL HADHA HADHB HMGCL KRT8
4 muscle MP:0005369 9.02 ACADM ACADVL HADHA HADHB VIM

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

Search Clinical Trials , 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:

40
Liver, Eye, Retina, Kidney, Skeletal Muscle, Fetal Liver, Heart

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

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

(show top 50) (show all 218)
# Title Authors PMID Year
1
Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. 6 57 61
20583174 2010
2
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. 57 6 61
11773547 2002
3
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia. 61 57 6
10518281 1999
4
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients. 6 57 61
9003853 1997
5
Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene. 57 6 61
8770876 1996
6
The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. 61 6 57
7846063 1995
7
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein. 61 57 6
7811722 1994
8
A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. 6 57
10352164 1999
9
Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases. 61 6
28515471 2017
10
Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases. 61 6
27491397 2016
11
Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients. 6 61
26653362 2016
12
Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. 61 6
26024122 2015
13
Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies. 61 6
22459206 2012
14
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia. 61 6
23430857 2012
15
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. 61 6
21103935 2011
16
Outcome in six patients with mitochondrial trifunctional protein disorders identified by newborn screening. 61 6
20659813 2010
17
Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency. 6 61
18408953 2009
18
Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency. 6 61
19880769 2009
19
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. 61 6
15902556 2005
20
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. 6 61
12809642 2003
21
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. 61 57
12621125 2003
22
Mitochondrial fatty acid beta-oxidation in the retinal pigment epithelium. 61 57
12357056 2002
23
Fetal genotypes and pregnancy outcomes in 35 families with mitochondrial trifunctional protein mutations. 6 61
12237653 2002
24
Placental floor infarction complicating the pregnancy of a fetus with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. 61 6
11243734 2001
25
Molecular prenatal diagnosis in families with fetal mitochondrial trifunctional protein mutations. 61 57
11241049 2001
26
Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry. 61 57
10518286 1999
27
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: neonatal manifestation at the first day of life presenting with tachypnoea. 61 57
10518285 1999
28
Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey. 61 6
10234607 1999
29
Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations. 61 6
9266371 1997
30
Retinal dystrophy in long chain 3-hydroxy-acyl-coA dehydrogenase deficiency. 57 61
9215057 1997
31
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a new method to identify the G1528C mutation in genomic DNA showing its high frequency (approximately 90%) and identification of a new mutation (T2198C). 6 61
8739956 1996
32
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder. 61 57
7813533 1994
33
Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients. 6 61
8163672 1994
34
Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency. 61 57
8094173 1993
35
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. 57 61
1830138 1991
36
3-Hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment. 57 61
2044590 1991
37
HADHB mutations cause infantile-onset axonal Charcot-Marie-Tooth disease: A report of two cases. 6
29956646 2018
38
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening. 6
29519241 2018
39
Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis. 6
29268767 2017
40
Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency. 20 61
27117294 2017
41
A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis. 6
27014569 2016
42
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate. 6
26109258 2016
43
Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD). 6
25888220 2015
44
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
45
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. 6
25087612 2014
46
Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy. 6
24664533 2014
47
Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis. 6
23868323 2013
48
Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening. 6
23798014 2013
49
Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases. 6
22065858 2012
50
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency. 6
21549624 2011

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

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

6 (show top 50) (show all 462)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GAREM2 , HADHA NM_000182.5(HADHA):c.2132dup (p.Pro712fs) Duplication Pathogenic 8733 rs1574600309 GRCh37: 2:26414365-26414366
GRCh38: 2:26191496-26191497
2 HADHA NM_000182.5(HADHA):c.1025T>C (p.Leu342Pro) SNV Pathogenic 8734 rs137852772 GRCh37: 2:26432709-26432709
GRCh38: 2:26209840-26209840
3 HADHA NM_000182.5(HADHA):c.845T>A (p.Val282Asp) SNV Pathogenic 8735 rs137852773 GRCh37: 2:26437385-26437385
GRCh38: 2:26214516-26214516
4 HADHB NM_000183.3(HADHB):c.788A>G (p.Asp263Gly) SNV Pathogenic 14844 rs121913131 GRCh37: 2:26502160-26502160
GRCh38: 2:26279292-26279292
5 HADHB NM_000183.3(HADHB):c.182G>A (p.Arg61His) SNV Pathogenic 14845 rs121913132 GRCh37: 2:26486320-26486320
GRCh38: 2:26263452-26263452
6 HADHB NM_000183.3(HADHB):c.740G>A (p.Arg247His) SNV Pathogenic 14846 rs121913133 GRCh37: 2:26502112-26502112
GRCh38: 2:26279244-26279244
7 HADHB NM_000183.3(HADHB):c.1331G>A (p.Arg444Lys) SNV Pathogenic 14847 rs121913134 GRCh37: 2:26508381-26508381
GRCh38: 2:26285513-26285513
8 HADHB HADHB, 1-BP INS, 36-BP DEL Indel Pathogenic 14848 GRCh37:
GRCh38:
9 HADHB NM_000183.3(HADHB):c.1364T>G (p.Val455Gly) SNV Pathogenic 14849 rs267606859 GRCh37: 2:26508414-26508414
GRCh38: 2:26285546-26285546
10 HADHB NM_000183.3(HADHB):c.1175C>T (p.Ala392Val) SNV Pathogenic 190379 rs764623179 GRCh37: 2:26507776-26507776
GRCh38: 2:26284908-26284908
11 HADHB NM_000183.3(HADHB):c.357dup (p.Ala120fs) Duplication Pathogenic 253049 rs886037844 GRCh37: 2:26499942-26499943
GRCh38: 2:26277074-26277075
12 HADHB NM_000183.3(HADHB):c.685C>T (p.Arg229Ter) SNV Pathogenic 579455 rs759136382 GRCh37: 2:26502057-26502057
GRCh38: 2:26279189-26279189
13 HADHB NM_000183.3(HADHB):c.254+1G>A SNV Pathogenic 431987 rs776172237 GRCh37: 2:26492866-26492866
GRCh38: 2:26269998-26269998
14 GAREM2 , HADHA NM_000182.5(HADHA):c.1689+2T>G SNV Pathogenic 801655 rs1574602991 GRCh37: 2:26417437-26417437
GRCh38: 2:26194568-26194568
15 HADHB NM_000183.3(HADHB):c.1206C>G (p.Tyr402Ter) SNV Pathogenic 801656 rs146538551 GRCh37: 2:26507807-26507807
GRCh38: 2:26284939-26284939
16 GAREM2 , HADHA NM_000182.5(HADHA):c.2134_2138dup (p.Gly715fs) Duplication Pathogenic 978225 GRCh37: 2:26414359-26414360
GRCh38: 2:26191490-26191491
17 HADHB NM_000183.3(HADHB):c.210-1G>T SNV Pathogenic 418243 rs200777054 GRCh37: 2:26492820-26492820
GRCh38: 2:26269952-26269952
18 GAREM2 , HADHA NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter) SNV Pathogenic 8732 rs137852771 GRCh37: 2:26417450-26417450
GRCh38: 2:26194581-26194581
19 HADHA NM_000182.5(HADHA):c.914T>A (p.Ile305Asn) SNV Pathogenic 8736 rs137852774 GRCh37: 2:26437316-26437316
GRCh38: 2:26214447-26214447
20 HADHA NM_000182.5(HADHA):c.871C>T (p.Arg291Ter) SNV Pathogenic 8737 rs137852775 GRCh37: 2:26437359-26437359
GRCh38: 2:26214490-26214490
21 GAREM2 , HADHA NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) SNV Pathogenic 100085 rs137852769 GRCh37: 2:26418053-26418053
GRCh38: 2:26195184-26195184
22 GAREM2 , HADHA NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) SNV Pathogenic 100085 rs137852769 GRCh37: 2:26418053-26418053
GRCh38: 2:26195184-26195184
23 HADHA NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter) SNV Pathogenic 8729 rs137852770 GRCh37: 2:26427019-26427019
GRCh38: 2:26204150-26204150
24 GAREM2 , HADHA NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) SNV Pathogenic 100085 rs137852769 GRCh37: 2:26418053-26418053
GRCh38: 2:26195184-26195184
25 GAREM2 , HADHA NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) SNV Pathogenic 100085 rs137852769 GRCh37: 2:26418053-26418053
GRCh38: 2:26195184-26195184
26 HADHA NM_000182.5(HADHA):c.676+2T>C SNV Pathogenic 495728 rs772683361 GRCh37: 2:26453058-26453058
GRCh38: 2:26230190-26230190
27 HADHA NM_000182.5(HADHA):c.871C>T (p.Arg291Ter) SNV Pathogenic 8737 rs137852775 GRCh37: 2:26437359-26437359
GRCh38: 2:26214490-26214490
28 GAREM2 , HADHA NM_000182.5(HADHA):c.2000+1G>C SNV Pathogenic 554318 rs1167218743 GRCh37: 2:26415178-26415178
GRCh38: 2:26192309-26192309
29 HADHA NM_000182.5(HADHA):c.6_24dup (p.Ile9fs) Duplication Pathogenic 579792 rs1456890163 GRCh37: 2:26467440-26467441
GRCh38: 2:26244572-26244573
30 HADHA NM_000182.5(HADHA):c.612dup (p.Arg205Ter) Duplication Pathogenic 638987 rs1574623071 GRCh37: 2:26453123-26453124
GRCh38: 2:26230255-26230256
31 GAREM2 , HADHA NM_000182.5(HADHA):c.1644del (p.Arg549fs) Deletion Pathogenic 651987 rs1267615713 GRCh37: 2:26417484-26417484
GRCh38: 2:26194615-26194615
32 HADHA NM_000182.5(HADHA):c.871C>T (p.Arg291Ter) SNV Pathogenic 8737 rs137852775 GRCh37: 2:26437359-26437359
GRCh38: 2:26214490-26214490
33 HADHA NC_000002.11:g.(?_26414109)_(26462021_?)del Deletion Pathogenic 661736 GRCh37: 2:26414109-26462021
GRCh38:
34 GAREM2 , HADHA NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter) SNV Pathogenic 8732 rs137852771 GRCh37: 2:26417450-26417450
GRCh38: 2:26194581-26194581
35 HADHA NM_000182.5(HADHA):c.1086-3_1092del Deletion Pathogenic 370400 rs1057516460 GRCh37: 2:26427059-26427068
GRCh38: 2:26204190-26204199
36 HADHA NC_000002.12:g.(?_26236845)_(26239153_?)del Deletion Pathogenic 831608 GRCh37: 2:26459713-26462021
GRCh38:
37 GAREM2 , HADHA NM_000182.5(HADHA):c.1690-17_1690-2del Deletion Pathogenic 848128 GRCh37: 2:26416643-26416658
GRCh38: 2:26193774-26193789
38 HADHA NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter) SNV Pathogenic 449455 rs1243779049 GRCh37: 2:26426956-26426956
GRCh38: 2:26204087-26204087
39 GAREM2 , HADHA NM_000182.5(HADHA):c.1720_1721del (p.Leu574fs) Deletion Pathogenic 845656 GRCh37: 2:26416610-26416611
GRCh38: 2:26193741-26193742
40 HADHA NM_000182.5(HADHA):c.1070del (p.Pro357fs) Deletion Pathogenic 952941 GRCh37: 2:26432664-26432664
GRCh38: 2:26209795-26209795
41 GAREM2 , HADHA NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer) Deletion Pathogenic 188712 rs779113356 GRCh37: 2:26415212-26415212
GRCh38: 2:26192343-26192343
42 GAREM2 , HADHA NM_000182.5(HADHA):c.1915_1918del (p.Tyr639fs) Deletion Pathogenic 371597 rs1057517397 GRCh37: 2:26415261-26415264
GRCh38: 2:26192392-26192395
43 HADHA NM_000182.5(HADHA):c.157C>T (p.Arg53Ter) SNV Pathogenic 92594 rs147103714 GRCh37: 2:26461825-26461825
GRCh38: 2:26238957-26238957
44 HADHA NM_000182.5(HADHA):c.180+3A>G SNV Pathogenic 8731 rs781222705 GRCh37: 2:26461799-26461799
GRCh38: 2:26238931-26238931
45 HADHA NM_000182.5(HADHA):c.180+3A>G SNV Pathogenic 8731 rs781222705 GRCh37: 2:26461799-26461799
GRCh38: 2:26238931-26238931
46 HADHA NM_000182.5(HADHA):c.180+3A>G SNV Pathogenic 8731 rs781222705 GRCh37: 2:26461799-26461799
GRCh38: 2:26238931-26238931
47 GAREM2 , HADHA NM_000182.5(HADHA):c.1793_1794del (p.His598fs) Deletion Pathogenic 188962 rs769580842 GRCh37: 2:26416537-26416538
GRCh38: 2:26193668-26193669
48 HADHA NM_000182.5(HADHA):c.274_278del (p.Ser92fs) Deletion Pathogenic 189105 rs781205883 GRCh37: 2:26459759-26459763
GRCh38: 2:26236891-26236895
49 GAREM2 , HADHA NM_000182.5(HADHA):c.1793_1794del (p.His598fs) Deletion Pathogenic/Likely pathogenic 188962 rs769580842 GRCh37: 2:26416537-26416538
GRCh38: 2:26193668-26193669
50 HADHA NM_000182.5(HADHA):c.274_278del (p.Ser92fs) Deletion Pathogenic/Likely pathogenic 189105 rs781205883 GRCh37: 2:26459759-26459763
GRCh38: 2:26236891-26236895

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

72
# Symbol AA change Variation ID SNP ID
1 HADHA p.Glu510Gln VAR_002273 rs137852769
2 HADHA p.Leu342Pro VAR_021127 rs137852772

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.8 MTTP HSD17B10 HMGCL HADHB HADHA HADH
2
Show member pathways
12.57 HMGCL HADHB HADHA HADH ACADVL ACADM
3
Show member pathways
12.22 HADHB HADHA HADH ACADVL ACADM
4 11.92 HADHB HADHA ACADM
5
Show member pathways
11.69 HADHB HADHA HADH
6
Show member pathways
11.65 HSD17B10 HADHA HADH
7 11.63 HMGCL HADH ACADM
8
Show member pathways
11.47 HADHB HADHA HADH ACADVL ACADM
9
Show member pathways
11.38 HSD17B10 HADHB HADH
10 11.28 HADH ACADVL ACADM
11
Show member pathways
11.28 HADHB HADHA HADH ACADVL ACADM
12
Show member pathways
11.19 HMGCL HADHA HADH
13
Show member pathways
11.17 HSD17B10 HMGCL HADHB HADHA HADH ACADM
14
Show member pathways
10.88 HSD17B10 HADHB HADHA
15
Show member pathways
10.26 HADHB HADHA HADH ACADM

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 mitochondrion GO:0005739 9.7 HSD17B10 HMGCL HADHB HADHA HADH ACADVL
2 mitochondrial matrix GO:0005759 9.35 HSD17B10 HMGCL HADH ACADVL ACADM
3 intermediate filament cytoskeleton GO:0045111 9.26 VIM KRT8
4 mitochondrial nucleoid GO:0042645 8.92 HSD17B10 HADHB HADHA ACADVL

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 HSD17B10 HADHA HADH ACADVL ACADM
2 fatty acid metabolic process GO:0006631 9.63 HSD17B10 HADHB HADHA HADH ACADVL ACADM
3 lipid metabolic process GO:0006629 9.56 MTTP HSD17B10 HMGCL HADHB HADHA HADH
4 response to starvation GO:0042594 9.43 HMGCL ACADM
5 response to cold GO:0009409 9.4 ACADVL ACADM
6 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.37 ACADVL ACADM
7 cardiolipin acyl-chain remodeling GO:0035965 9.26 HADHB HADHA
8 fatty acid beta-oxidation GO:0006635 9.1 HSD17B10 HADHB HADHA HADH ACADVL ACADM

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 9.65 HSD17B10 HADHA HADH ACADVL ACADM
2 scaffold protein binding GO:0097110 9.43 VIM KRT8
3 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.4 ACADVL ACADM
4 acyl-CoA dehydrogenase activity GO:0003995 9.37 ACADVL ACADM
5 enoyl-CoA hydratase activity GO:0004300 9.32 HADHB HADHA
6 acetyl-CoA C-acyltransferase activity GO:0003988 9.16 HADHB HADHA
7 fatty-acyl-CoA binding GO:0000062 9.13 HMGCL HADHA ACADVL
8 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 8.92 HSD17B10 HADHB HADHA HADH

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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