LCHAD DEFICIENCY
MCID: LNG073
MIFTS: 59

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

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

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

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

Name: Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 56 25 29 6 39
Lchad Deficiency 56 74 52 25 58 73 36 29 6
Long-Chain 3-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 52 25 58
Aflp 52 58 73
Long-Chain 3-Hydroxy Acyl Coa Dehydrogenase Deficiency 52 25
Long-Chain 3-Oh Acyl-Coa Dehydrogenase Deficiency 52 25
Trifunctional Protein Deficiency, Type 1 25 71
Fatty Liver, Acute, of Pregnancy 56 13
Acute Fatty Liver of Pregnancy 52 58
Trifunctional Protein Deficiency with Myopathy and Neuropathy 71
3-Hydroxyacyl-Coa Dehydrogenase, Long Chain, Deficiency 25
3-Hydroxyacyl-Coa Dehydrogenase Long Chain Deficiency 52
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 58
Long-Chain 3-Hydroxyl-Coa Dehydrogenase Deficiency 73
Maternal Acute Fatty Liver of Pregnancy 73
Hellp Syndrome, Maternal, of Pregnancy 56
Acute Fatty Liver, Gestational 52
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;

HPO:

31
long-chain 3-hydroxyacyl-coa dehydrogenase deficiency:
Clinical modifier sudden death
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

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). 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 mitochondrial trifunctional protein deficiency and hypoglycemia, 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 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Fatty Acyl-CoA Biosynthesis. The drugs Glycerol and carnitine have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and heart, and related phenotypes are photophobia and hypoketotic hypoglycemia

NIH Rare Diseases : 52 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 : 56 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)

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 : 73 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 : 74 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 208)
# Related Disease Score Top Affiliating Genes
1 mitochondrial trifunctional protein deficiency 31.5 HADHA GAREM2
2 hypoglycemia 30.8 HADHA HADH ACADVL ACADM
3 fatty liver disease, nonalcoholic 1 30.7 MTTP HADHA
4 myoglobinuria 30.5 HADH ACADVL
5 acyl-coa dehydrogenase deficiency 30.4 HADHA ACADVL ACADM
6 abdominal obesity-metabolic syndrome 1 30.3 MTTP ACADM
7 placenta disease 30.3 HADHA ACADM
8 reye syndrome 30.1 HADHA ACADVL ACADM
9 maple syrup urine disease 30.0 HADHA HADH ACADM
10 acyl-coa dehydrogenase, very long-chain, deficiency of 30.0 HADHA HADH ACADVL ACADM
11 acyl-coa dehydrogenase, medium-chain, deficiency of 30.0 HADHA HADH ACADVL ACADM
12 abetalipoproteinemia 29.6 MTTP HADHA
13 acyl-coa dehydrogenase, short-chain, deficiency of 29.3 HADHA HADH ACADVL ACADM
14 3-hydroxyacyl-coa dehydrogenase deficiency 28.1 VIM MTTP KRT8 HSD17B10 HADHA HADH
15 peripheral nervous system disease 10.7
16 neuropathy 10.7
17 hypotonia 10.7
18 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.7
19 fatty liver disease 10.7
20 atrial standstill 1 10.6
21 pre-eclampsia 10.6
22 myopathy 10.6
23 disseminated intravascular coagulation 10.6
24 acute liver failure 10.5
25 ocular motor apraxia 10.5
26 abnormal hair, joint laxity, and developmental delay 10.5
27 yemenite deaf-blind hypopigmentation syndrome 10.5
28 myopia 10.5
29 hellp syndrome 10.5
30 lactic acidosis 10.5
31 cataract 10.5
32 argyria 10.5
33 placental insufficiency 10.4
34 axonal neuropathy 10.4
35 acute kidney failure 10.4
36 sudden infant death syndrome 10.4
37 ataxia and polyneuropathy, adult-onset 10.4
38 hypocalcemia, autosomal dominant 1 10.4
39 peroxisome biogenesis disorder 1b 10.4
40 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.4
41 autosomal recessive disease 10.4
42 metabolic acidosis 10.4
43 hepatic coma 10.4
44 dilated cardiomyopathy 10.4
45 hepatic encephalopathy 10.4
46 cholestasis 10.4
47 eclampsia 10.4
48 polyneuropathy 10.4
49 hypoglycemic coma 10.4
50 status epilepticus 10.4

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 28)
# 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 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
12 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
13 nyctalopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000662
14 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
15 abnormality of retinal pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007703
16 retinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000488
17 generalized hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001290
18 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
19 cholestatic liver disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0002611
20 chorioretinal atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000533
21 posterior staphyloma 58 31 occasional (7.5%) Occasional (29-5%) HP:0030856
22 muscular hypotonia 58 31 Frequent (79-30%) HP:0001252
23 hypoglycemia 58 31 Very frequent (99-80%) HP:0001943
24 abnormality of metabolism/homeostasis 58 Frequent (79-30%)
25 cardiomyopathy 31 HP:0001638
26 chorioretinal abnormality 58 Occasional (29-5%)
27 pigmentary retinopathy 31 HP:0000580
28 decreased activity of 3-hydroxyacyl-coa dehydrogenase 31 HP:0100950

Clinical features from OMIM:

609016

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


myalgia, weakness

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 ACADM ACADVL HADHA KRT8 MTTP VIM
2 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 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Phase 2 56-81-5 753
2 carnitine Phase 2
3 Antibiotics, Antitubercular
4 Anti-Infective Agents
5 Anti-Bacterial Agents
6 Contraceptive Agents
7 Liver Extracts
8 Cola
9 pyruvate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 2 Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation Disorders Completed NCT01379625 Phase 2 Triheptanoin
2 An Open-label Long-Term Safety and Efficacy Extension Study in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Previously Enrolled in UX007 or Triheptanoin Studies Enrolling by invitation NCT02214160 Phase 2 UX007
3 Infections Caused by Enterobacteriaceae Producing Extended-Spectrum β-Lactamases in Italy: Molecular Epidemiology, Clinical Impact, Treatment Outcome and Risk Factors Unknown status NCT00404625
4 Association Between the Quantitative Assessment of Schistocytes in Peripheral Blood Smear and Prognosis of Patient Initially Diagnosed as HELLP Syndrome. Completed NCT03246542
5 Assessment of Immature Platelet Fraction in Pregnancy-Associated Thrombotic Microangiopathy Completed NCT03232359
6 Impacts of the Positive Youth Development Program for Expectant and Parenting Teens in California Completed NCT04181034
7 EASL: European Registry of Liver Disease in Pregnancy Recruiting NCT03834285
8 Aberrant Splicings Due to Microsatellite Instability in Colorectal Cancer : Physiopathological and Clinical Impact (MICROSPLICOTHER) Recruiting NCT03447431
9 Usefulness of a Diagnostic Algorithm to Diagnose Thrombotic Microangiopathies in Pregnancy Active, not recruiting NCT03580941
10 Dietary Therapy for Inherited Disorders of Energy Metabolism Available NCT01461304 triheptanoin

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

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

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

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

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

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

40
Liver, Eye, Heart, Retina, Testes, 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 181)
# Title Authors PMID Year
1
Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. 56 61
20583174 2010
2
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 56
12621125 2003
3
Mitochondrial fatty acid beta-oxidation in the retinal pigment epithelium. 56 61
12357056 2002
4
Molecular prenatal diagnosis in families with fetal mitochondrial trifunctional protein mutations. 56 61
11241049 2001
5
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia. 61 56
10518281 1999
6
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: neonatal manifestation at the first day of life presenting with tachypnoea. 61 56
10518285 1999
7
Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry. 61 56
10518286 1999
8
Retinal dystrophy in long chain 3-hydroxy-acyl-coA dehydrogenase deficiency. 61 56
9215057 1997
9
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients. 56 61
9003853 1997
10
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. 56 61
8770876 1996
11
The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. 61 56
7846063 1995
12
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 56
7811722 1994
13
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder. 61 56
7813533 1994
14
Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency. 56 61
8094173 1993
15
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. 56 61
1830138 1991
16
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. 61 56
2044590 1991
17
Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency. 52 61
27117294 2017
18
Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase defiency. 56
11032332 2000
19
A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. 56
10352164 1999
20
L-3-hydroxyacyl-CoA dehydrogenase deficiency: two cases with pigmentary retinopathy. 56
9427163 1997
21
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome. 56
7977472 1994
22
Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. 56
8294091 1994
23
Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation. 56
1445348 1992
24
Combined enzyme defect of mitochondrial fatty acid oxidation. 56
1401059 1992
25
Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency. 56
1537353 1992
26
Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood. 56
2284166 1990
27
3-Hydroxydicarboxylic aciduria--a fatty acid oxidation defect with severe prognosis. 56
2308028 1990
28
Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase. 56
2567831 1989
29
Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites. 61
31760122 2019
30
Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review. 61
31730477 2019
31
Collapsing glomerulopathy in a child with LCHAD deficiency: a rare association. 61
30747351 2019
32
CHOROIDAL NEOVASCULARIZATION ASSOCIATED WITH LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY. 61
31479012 2019
33
Exome-based search for recurrent disease-causing alleles in Russian population. 61
31028847 2019
34
Epidemiology of rare diseases detected by newborn screening in the Czech Republic. 61
31241292 2019
35
Serial fatty acid profiles in a preterm infant with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. 61
31025818 2019
36
Erratum to "Peripheral neuropathy in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency - A follow-up EMG study of 12 patients" [Eur J Paediatr Neuro 20 (2016) 38-44]. 61
30642532 2019
37
Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates. 61
30136145 2018
38
High vulnerability of the heart and liver to 3-hydroxypalmitic acid-induced disruption of mitochondrial functions in intact cell systems. 61
29923625 2018
39
Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. 61
30029694 2018
40
The safety of Lipistart, a medium-chain triglyceride based formula, in the dietary treatment of long-chain fatty acid disorders: a phase I study. 61
29425111 2018
41
[Acute liver failure related to inherited metabolic diseases in young children]. 61
28411097 2018
42
Follow-up and multimodal imaging in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. 61
30364125 2018
43
Retinal Dystrophy in Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency. 61
31047310 2018
44
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review. 61
29445937 2018
45
Role of 3-Hydroxy Fatty Acid-Induced Hepatic Lipotoxicity in Acute Fatty Liver of Pregnancy. 61
29361796 2018
46
Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases. 61
28515471 2017
47
Energy exchangers with LCT as a precision method for diet control in LCHADD. 61
28791828 2017
48
Management of an LCHADD Patient During Pregnancy and High Intensity Exercise. 61
27334895 2017
49
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. 61
29095929 2017
50
Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function. 61
27461099 2016

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 130) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HADHA NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)SNV Pathogenic 100085 rs137852769 2:26418053-26418053 2:26195184-26195184
2 HADHA NM_000182.5(HADHA):c.180+3A>GSNV Pathogenic 8731 rs781222705 2:26461799-26461799 2:26238931-26238931
3 HADHA NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter)SNV Pathogenic 8732 rs137852771 2:26417450-26417450 2:26194581-26194581
4 HADHA NM_000182.5(HADHA):c.871C>T (p.Arg291Ter)SNV Pathogenic 8737 rs137852775 2:26437359-26437359 2:26214490-26214490
5 HADHA NM_000182.5(HADHA):c.676+2T>CSNV Pathogenic 495728 rs772683361 2:26453058-26453058 2:26230190-26230190
6 HADHA NM_000182.5(HADHA):c.6_24dup (p.Ile9fs)duplication Pathogenic 579792 rs1456890163 2:26467441-26467459 2:26244573-26244591
7 HADHA NM_000182.5(HADHA):c.1644del (p.Arg549fs)deletion Pathogenic 651987 2:26417484-26417484 2:26194616-26194616
8 HADHA NM_000182.5(HADHA):c.612dup (p.Arg205Ter)duplication Pathogenic 638987 2:26453124-26453124 2:26230256-26230256
9 HADHA NC_000002.11:g.(?_26414109)_(26462021_?)deldeletion Pathogenic 661736 2:26414109-26462021
10 HADHA NM_000182.5(HADHA):c.2000+1G>CSNV Pathogenic/Likely pathogenic 554318 rs1167218743 2:26415178-26415178 2:26192309-26192309
11 HADHA NM_000182.5(HADHA):c.157C>T (p.Arg53Ter)SNV Pathogenic/Likely pathogenic 92594 rs147103714 2:26461825-26461825 2:26238957-26238957
12 HADHA NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer)deletion Pathogenic/Likely pathogenic 188712 rs779113356 2:26415212-26415212 2:26192343-26192343
13 HADHA NM_000182.5(HADHA):c.1793_1794del (p.His598fs)deletion Pathogenic/Likely pathogenic 188962 rs769580842 2:26416537-26416538 2:26193668-26193669
14 HADHA NM_000182.5(HADHA):c.274_278del (p.Ser92fs)deletion Pathogenic/Likely pathogenic 189105 rs781205883 2:26459759-26459763 2:26236891-26236895
15 HADHA NM_000182.5(HADHA):c.919-2A>GSNV Pathogenic/Likely pathogenic 193564 rs200017313 2:26435497-26435497 2:26212628-26212628
16 HADHA NM_000182.5(HADHA):c.2146+1G>ASNV Pathogenic/Likely pathogenic 194917 rs794727219 2:26414351-26414351 2:26191482-26191482
17 HADHA NM_000182.5(HADHA):c.1086-3_1092deldeletion Pathogenic/Likely pathogenic 370400 rs1057516460 2:26427059-26427068 2:26204190-26204199
18 HADHA NM_000182.5(HADHA):c.1811del (p.Gly604fs)deletion Pathogenic/Likely pathogenic 370726 rs747985669 2:26416520-26416520 2:26193651-26193651
19 HADHA NM_000182.5(HADHA):c.1690-2A>GSNV Pathogenic/Likely pathogenic 370079 rs1057516217 2:26416643-26416643 2:26193774-26193774
20 HADHA NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter)SNV Pathogenic/Likely pathogenic 449455 rs1243779049 2:26426956-26426956 2:26204087-26204087
21 HADHA NM_000182.5(HADHA):c.1590del (p.Lys531fs)deletion Likely pathogenic 371082 rs1057516991 2:26417991-26417991 2:26195122-26195122
22 HADHA NM_000182.5(HADHA):c.1342_1343GT[1] (p.Val448_Phe449insTer)short repeat Likely pathogenic 370742 rs1057516734 2:26424065-26424066 2:26201196-26201197
23 HADHA NM_000182.5(HADHA):c.1237A>T (p.Lys413Ter)SNV Likely pathogenic 370401 rs1057516461 2:26424173-26424173 2:26201304-26201304
24 HADHA NM_000182.5(HADHA):c.1221-1G>CSNV Likely pathogenic 370098 rs1057516233 2:26424190-26424190 2:26201321-26201321
25 HADHA NM_000182.5(HADHA):c.1202del (p.Gln401fs)deletion Likely pathogenic 371204 rs1057517087 2:26426949-26426949 2:26204080-26204080
26 HADHA NM_000182.5(HADHA):c.1052del (p.Lys351fs)deletion Likely pathogenic 370523 rs1057516556 2:26432682-26432682 2:26209813-26209813
27 HADHA NM_000182.5(HADHA):c.515del (p.Pro172fs)deletion Likely pathogenic 371450 rs1057517282 2:26455086-26455086 2:26232218-26232218
28 HADHA NM_000182.5(HADHA):c.453+1G>ASNV Likely pathogenic 370347 rs1057516417 2:26457084-26457084 2:26234216-26234216
29 HADHA NM_000182.5(HADHA):c.240G>A (p.Trp80Ter)SNV Likely pathogenic 370220 rs1057516326 2:26459797-26459797 2:26236929-26236929
30 HADHA NM_000182.5(HADHA):c.1A>G (p.Met1Val)SNV Likely pathogenic 371639 rs1057517430 2:26467464-26467464 2:26244596-26244596
31 HADHA NM_000182.5(HADHA):c.703C>T (p.Arg235Trp)SNV Likely pathogenic 188987 rs786204607 2:26438018-26438018 2:26215149-26215149
32 HADHA NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs)deletion Likely pathogenic 189089 rs749848370 2:26415180-26415198 2:26192311-26192329
33 HADHA NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter)SNV Likely pathogenic 8729 rs137852770 2:26427019-26427019 2:26204150-26204150
34 HADHA NM_000182.5(HADHA):c.180+1G>ASNV Likely pathogenic 8730 rs786205088 2:26461801-26461801 2:26238933-26238933
35 HADHA NM_000182.5(HADHA):c.800-1G>TSNV Likely pathogenic 550378 rs1553314024 2:26437431-26437431 2:26214562-26214562
36 HADHA NM_000182.5(HADHA):c.315-1G>ASNV Likely pathogenic 554431 rs1458898996 2:26457224-26457224 2:26234356-26234356
37 HADHA NM_000182.5(HADHA):c.3G>A (p.Met1Ile)SNV Likely pathogenic 553089 rs1237270916 2:26467462-26467462 2:26244594-26244594
38 HADHA NM_000182.5(HADHA):c.2220T>A (p.Tyr740Ter)SNV Likely pathogenic 552556 rs142120825 2:26414191-26414191 2:26191322-26191322
39 HADHA NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs)duplication Likely pathogenic 495727 rs868816467 2:26414183-26414186 2:26191314-26191317
40 HADHA NM_000182.5(HADHA):c.1814_1815del (p.Lys605fs)deletion Likely pathogenic 504151 rs1553312033 2:26416516-26416517 2:26193647-26193648
41 HADHA NM_000182.5(HADHA):c.2146+2T>CSNV Likely pathogenic 370251 rs1057516350 2:26414350-26414350 2:26191481-26191481
42 HADHA NM_000182.5(HADHA):c.2071G>T (p.Glu691Ter)SNV Likely pathogenic 371259 rs1057517132 2:26414427-26414427 2:26191558-26191558
43 HADHA NM_000182.5(HADHA):c.1915_1918del (p.Tyr639fs)deletion Likely pathogenic 371597 rs1057517397 2:26415261-26415264 2:26192392-26192395
44 HADHA NM_000182.5(HADHA):c.2222del (p.Gly741fs)deletion Likely pathogenic 554919 rs1553311647 2:26414188-26414189 2:26191320-26191320
45 HADHA NM_000182.5(HADHA):c.2059del (p.Met687fs)deletion Likely pathogenic 552748 rs1553311706 2:26414438-26414439 2:26191570-26191570
46 HADHA NM_000182.5(HADHA):c.1959dup (p.Ser654Ter)duplication Likely pathogenic 551505 rs1553311804 2:26415219-26415219 2:26192351-26192351
47 HADHA NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer)deletion Likely pathogenic 552438 rs1553316176 2:26462006-26462007 2:26239139-26239139
48 HADHA NM_000182.5(HADHA):c.2026del (p.Arg676fs)deletion Likely pathogenic 557152 rs1553311716 2:26414471-26414472 2:26191603-26191603
49 HADHA NM_000182.5(HADHA):c.1620+2_1620+6delshort repeat Likely pathogenic 558276 rs764557236 2:26417954-26417959 2:26195086-26195090
50 HADHA NM_000182.5(HADHA):c.1479+1G>TSNV Likely pathogenic 552402 rs1290945516 2:26420559-26420559 2:26197690-26197690

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

73
# 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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.53 HADHA HADH ACADVL ACADM
2
Show member pathways
12.12 HADHA HADH ACADVL ACADM
3
Show member pathways
11.63 HSD17B10 HADHA HADH ACADM
4
Show member pathways
11.54 HSD17B10 HADHA HADH
5 11.39 VIM KRT8
6 11.3 HADHA HADH
7
Show member pathways
11.28 HADHA HADH ACADVL ACADM
8
Show member pathways
11.22 HSD17B10 HADH
9 11.14 HADH ACADVL ACADM
10
Show member pathways
11.06 HADHA HADH
11
Show member pathways
10.73 HSD17B10 HADHA
12
Show member pathways
10.65 HADHA HADH ACADVL ACADM
13
Show member pathways
10.13 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 9.35 HSD17B10 HADHA HADH ACADVL ACADM
2 intermediate filament cytoskeleton GO:0045111 9.26 VIM KRT8
3 mitochondrial nucleoid GO:0042645 9.16 HADHA ACADVL
4 mitochondrial matrix GO:0005759 8.92 HSD17B10 HADH ACADVL ACADM

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 HSD17B10 HADHA HADH ACADVL ACADM
2 fatty acid metabolic process GO:0006631 9.46 HADHA HADH ACADVL ACADM
3 lipid metabolic process GO:0006629 9.43 MTTP HSD17B10 HADHA HADH ACADVL ACADM
4 response to insulin GO:0032868 9.4 HADHA HADH
5 response to cold GO:0009409 9.37 ACADVL ACADM
6 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.32 ACADVL ACADM
7 fatty acid beta-oxidation GO:0006635 8.92 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 flavin adenine dinucleotide binding GO:0050660 9.4 ACADVL ACADM
2 scaffold protein binding GO:0097110 9.37 VIM KRT8
3 oxidoreductase activity GO:0016491 9.35 HSD17B10 HADHA HADH ACADVL ACADM
4 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.32 ACADVL ACADM
5 fatty-acyl-CoA binding GO:0000062 9.26 HADHA ACADVL
6 acyl-CoA dehydrogenase activity GO:0003995 9.16 ACADVL ACADM
7 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 8.8 HSD17B10 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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