LCHAD DEFICIENCY
MCID: LCH005
MIFTS: 41

Lchad Deficiency (LCHAD DEFICIENCY) malady

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

Aliases & Classifications for Lchad Deficiency

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Sources:
12diseasecard, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Lchad Deficiency:

Name: Lchad Deficiency 52 48 24 25 54 70 27
Aflp 48 54 70
Long-Chain 3-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 48 25
3-Hydroxyacyl-Coa Dehydrogenase, Long Chain, Deficiency 25 27
Long-Chain 3-Hydroxy Acyl Coa Dehydrogenase Deficiency 48 25
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 24 54
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 52 25
Long-Chain 3-Oh Acyl-Coa Dehydrogenase Deficiency 48 25
Trifunctional Protein Deficiency, Type 1 25 68
Fatty Liver, Acute, of Pregnancy 52 12
 
Acute Fatty Liver of Pregnancy 48 54
Trifunctional Protein Deficiency with Myopathy and Neuropathy 68
3-Hydroxyacyl-Coa Dehydrogenase Long Chain Deficiency 48
Long-Chain 3-Hydroxyl-Coa Dehydrogenase Deficiency 70
Trifunctional Protein Deficiency Type 1 48
Maternal Acute Fatty Liver of Pregnancy 70
Hellp Syndrome, Maternal, of Pregnancy 52
Acute Fatty Liver, Gestational 48
Lchadd 54

Characteristics:

Orphanet epidemiological data:

54
lchad 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
aflp:
Inheritance: Multigenic/multifactorial; Age of onset: Adult

HPO:

64
lchad deficiency:
Mortality/Aging: sudden death

Classifications:



External Ids:

OMIM52 609016
UMLS via Orphanet69 C1455728, C0342786
MESH via Orphanet40 C537957
ICD10 via Orphanet31 O26.6, E71.3
MedGen37 CN074230

Summaries for Lchad Deficiency

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NIH Rare Diseases:48 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: Lchad Deficiency, also known as aflp, is related to trifunctional protein deficiency and 3-hydroxyacyl-coa dehydrogenase deficiency, and has symptoms including myalgia, weakness and pigmentary retinopathy. An important gene associated with Lchad Deficiency is HADHA (Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase (Trifunctional Protein), Alpha Subunit). Affiliated tissues include liver, eye and testes.

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).

OMIM:52 Isolated deficiency of long-chain 3-hydroxyl-CoA dehydrogenase (LCHAD) is an autosomal recessive disorder characterized... (609016) more...

UniProtKB/Swiss-Prot:70 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).

Related Diseases for Lchad Deficiency

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Graphical network of the top 20 diseases related to Lchad Deficiency:



Diseases related to lchad deficiency

Symptoms & Phenotypes for Lchad Deficiency

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Clinical features from OMIM:

609016

Human phenotypes related to Lchad Deficiency:

 64 (show all 6)
id Description HPO Frequency HPO Source Accession
1 pigmentary retinopathy64 HP:0000580
2 muscular hypotonia64 HP:0001252
3 cardiomyopathy64 HP:0001638
4 hypoglycemia64 HP:0001943
5 hepatomegaly64 HP:0002240
6 long chain 3 hydroxyacyl coa dehydrogenase deficiency64 HP:0100950

UMLS symptoms related to Lchad Deficiency:


myalgia, weakness

Drugs & Therapeutics for Lchad Deficiency

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Drugs for Lchad Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Glycerolexperimental, approvedPhase 223856-81-5753
Synonyms:
1,2,3-Trihydroxypropane
1,2,3-propanetriol
1,2,3-trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerin, anhydrous
Glycerin,anhydrous
Glycerine
Glycerinum
 
Glyceritol
Glycerol
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Monoctanoin component D
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
2carnitineNutraceuticalPhase 2162
3
Heparinapproved, investigational8489005-49-6772, 46507594
Synonyms:
101921-26-0
102-94-3
102785-31-9
104521-37-1
11078-24-3
11129-39-8
12656-11-0
2-o-sulfohexopyranuronosyl-(1->4)-2-deoxy-3-o-sulfo-2-(sulfoamino)hexopyranosyl-(1->4)-2-o-sulfohexopyranuronosyl-(1->4)-2-acetamido-2-deoxy-6-o-sulfohexopyranose
37324-73-5
6-[6-[6-[5-acetamido-4,6-dihydroxy-2-(sulfooxymethyl)oxan-3-yl]oxy-2-carboxy-4-hydroxy-5-sulfooxyoxan-3-yl]oxy-2-(hydroxymethyl)-5-(sulfoamino)-4-sulfooxyoxan-3-yl]oxy-3,4-dihydroxy-5-sulfooxyoxane-2-carboxylic acid
9041-08-1
9045-22-1
9075-96-1
913079-23-9
91449-79-5
AC1L19ZN
AC1L1ROY
ALFA 87-120
ALFA 87-163
ALFA 87-198
ALFA 87-81
ALFA 88-247
AR-1E4539
Allocinnamic acid
Ardeparin
Ardeparin sodium
Arteven
Bemiparin
Bemiparin sodium
CID772
CID8784
CY 216
Calciparine
Certoparin
Clexane
Clivarin
Clivarine
Cy 222
D006495
D017984
DB00407
DB01225
Dalteparin
Dalteparin sodium
Depo-Heparin
EINECS 232-681-7
EMT 966
EMT 967
EMT-966
EMT-967
EMT966
EMT967
Enoxaparin
Enoxaparin sodium
Enoxaparine
Eparina
Eparina [DCIT]
FR 860
Fluxum
Fragmin A
Fragmin B
Fragmin IV
Fraxiparin
H 2149
HSDB 3094
Hed-heparin
Hep Flush Kit in plastic container
Hep-Lock
Hep-Lock U/P
Hep-lock
Heparin
Heparin CY 216
Heparin Lock Flush
Heparin Lock Flush in plastic container
Heparin Lock Flush preservative free
Heparin Lock Flush preservative free in plastic container
Heparin Sodium
Heparin natrium
Heparin sodium
Heparin sodium 1,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 1,000 units in dextrose 5% in plastic container
Heparin sodium 1,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 10,000 units in dextrose 5%
Heparin sodium 10,000 units in dextrose 5% in plastic container
Heparin sodium 10,000 units in sodium chloride 0.45%
Heparin sodium 10,000 units in sodium chloride 0.9%
Heparin sodium 12,500 units in dextrose 5%
Heparin sodium 12,500 units in dextrose 5% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.45% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.9%
Heparin sodium 2,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 2,000 units in dextrose 5% in plastic container
Heparin sodium 2,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 20,000 units and dextrose 5% in plastic container
Heparin sodium 20,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units and dextrose 5% in plastic container
 
Heparin sodium 25,000 units in dextrose 5%
Heparin sodium 25,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.45% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.9%
Heparin sodium 25,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units in dextrose 5% in plastic container
Heparin sodium 5,000 units in sodium chloride 0.45%
Heparin sodium 5,000 units in sodium chloride 0.9%
Heparin sodium 5,000 units in sodium chloride 0.9% in plastic container
Heparin sodium in plastic container
Heparin sodium preservative Free
Heparin sulfate
Heparin sulphate
Heparin, Low Molecular Weight
Heparin, Low-Molecular-Weight
Heparin, sodium salt
Heparina
Heparina [INN-Spanish]
Heparinate
Heparine
Heparine [INN-French]
Heparinic acid
Heparinsodiumsalt
Heparinum
Heparinum [INN-Latin]
Heparinum natricum
Hepathrom
Hepflush-10
Inno-Hep
Innohep
Isocinnamic acid
KB 101
Kabi 2165
LHN 1
LMWH
Lioton 1000
Lipo-hepin
Liquaemin
Liquaemin Lock Flush
Liquaemin Sodium
Liquaemin sodium preservative free
Liquemin
Logiparin
Lovenox
Lovenox HP
Low Molecular Weight Heparin
Low molecular weight heparin
Low molecular weight heparin sodium
Low-Molecular-Weight Heparin
Minolteparin sodium
MolPort-003-760-257
Multiparin
NSC174025
Nadroparin
Nadroparine
Novoheparin
OP 386
OP 622
Octaparin
PK 10,169
PK-10,169
PK-10169
PK10,169
PK10169
Pabyrin
Panheprin
Parnaparin
Parnaparin sodium
Parvoparin
Pularin
Reviparin
Reviparin sodium
Ro 11
Sandoparin
Sodium acid heparin
Sodium heparin
Sodium heparinate
Subeparin
Sublingula
Thromboliquine
Tinzaparin
Tinzaparin sodium
Triofiban
UNII-12M44VTJ7B
UNII-3S182ET3UA
UNII-E47C0NF7LV
UNII-T2410KM04A
UNII-ZZ45AB24CA
Unfractionated heparin
Vetren
Vitrum AB
WY 90493RD
alpha-Heparin
cis-.beta.-Carboxystyrene
cis-Cinnamic acid
enoxaparin
heparin
4
Pyruvateapproved, Nutraceutical44
Synonyms:
 
2-oxopropanoate
5
Vitamin Eapproved, nutraceutical, vet_approved41459-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-TRIMETHYLTRIDECYL]CHROMAN-6-OL
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'R)-α-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
5,7,8-trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
6Parenteral Nutrition Solutions160
7Soybean oil, phospholipid emulsion76
8Insulin, Globin Zinc4645
9Protective Agents7443
10Pharmaceutical Solutions8192
11calcium heparin848
12insulin4646
13Calcium, Dietary5713
14Fat Emulsions, Intravenous97
15Hypoglycemic Agents5896
16Fibrinolytic Agents2388
17Anticoagulants2623
18Trace Elements6001
19Vitamins5282
20Tocotrienols410
21Antioxidants3050
22Micronutrients6001
23Tocopherols414
24Soy BeanNutraceutical554
25TocopherolNutraceutical414
26TocotrienolNutraceutical410

Interventional clinical trials:

idNameStatusNCT IDPhase
1High Protein Diet in Patients With Long-chain Fatty Acid Oxidation DisordersCompletedNCT01494051Phase 1, Phase 2
2An Open-label Phase 2 Study of UX007 (Triheptanoin) in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)CompletedNCT01886378Phase 2
3Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation DisorderCompletedNCT01379625Phase 2
4Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies.Enrolling by invitationNCT02214160Phase 2
5Fatty Acid Oxidation Disorders & Body Weight Regulation GrantCompletedNCT00654004
6Fatty Acid Oxidation Defects and Insulin SensitivityRecruitingNCT02517307
7Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269
8Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy MetabolismAvailableNCT01461304
9Vitamin E Treatment for Long-Chain 3-Hydroxyacyl Coenzyme A (CoA) Dehydrogenase (LCHAD) Associated NeuropathyTerminatedNCT00840112

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Genetic Tests for Lchad Deficiency

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Genetic tests related to Lchad Deficiency:

id Genetic test Affiliating Genes
1 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency27
2 Lchad Deficiency27
3 Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency24 HADHA

Anatomical Context for Lchad Deficiency

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MalaCards organs/tissues related to Lchad Deficiency:

36
Liver, Eye, Testes, Skin

Publications for Lchad Deficiency

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Articles related to Lchad Deficiency:

(show all 20)
idTitleAuthorsYear
1
An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence? (27769081)
2016
2
Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency. (26545880)
2015
3
Erratum to: increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast. (25413955)
2015
4
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
5
Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast. (25141826)
2014
6
Patient specific induced pluripotent stem cells derived RPE cells: understanding the pathogenesis of retinopathy in LCHAD deficiency. (24894396)
2014
7
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
8
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. (21103935)
2011
9
Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy - a common feature of the pregnancy complication? (20363656)
2010
10
Perioperative management of a child with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. (20470346)
2010
11
Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. (20583174)
2010
12
EFFECT OF FEEDING, EXERCISE AND GENOTYPE ON PLASMA 3-HYDROXYACYLCARNITINES IN CHILDREN WITH LCHAD DEFICIENCY. (20589231)
2009
13
Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency. (18408953)
2009
14
Increased lipolysis in LCHAD deficiency. (17160563)
2007
15
Homogeneous amplification nucleobase quenching assay to detect the E474Q LCHAD deficiency mutation. (15857179)
2005
16
Maternal acute fatty liver of pregnancy and the associated risk for long-chain 3-hydroxyacyl-coenzyme a dehydrogenase (LCHAD) deficiency in infants. (14988877)
2004
17
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
18
Placental floor infarction complicating the pregnancy of a fetus with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. (11243734)
2001
19
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
20
Improved detection of the G1528C mutation in LCHAD deficiency. (8809345)
1996

Variations for Lchad Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Lchad Deficiency:

70
id Symbol AA change Variation ID SNP ID
1HADHAp.Glu510GlnVAR_002273rs137852769
2HADHAp.Leu342ProVAR_021127rs137852772

Clinvar genetic disease variations for Lchad Deficiency:

5 (show all 28)
id Gene Variation Type Significance SNP ID Assembly Location
1HADHANM_ 000182.4(HADHA): c.1528G> C (p.Glu510Gln)SNVPathogenicrs137852769GRCh37Chr 2, 26418053: 26418053
2HADHANM_ 000182.4(HADHA): c.1967delT (p.Leu656Terfs)deletionPathogenic/ Likely pathogenicrs779113356GRCh37Chr 2, 26415212: 26415212
3HADHANM_ 000182.4(HADHA): c.1793_ 1794delAT (p.His598Argfs)deletionLikely pathogenicrs769580842GRCh37Chr 2, 26416537: 26416538
4HADHANM_ 000182.4(HADHA): c.703C> T (p.Arg235Trp)SNVLikely pathogenicrs786204607GRCh37Chr 2, 26438018: 26438018
5HADHANM_ 000182.4(HADHA): c.1981_ 1999del19 (p.Leu661Serfs)deletionLikely pathogenicrs749848370GRCh37Chr 2, 26415180: 26415198
6HADHANM_ 000182.4(HADHA): c.274_ 278delTCATC (p.Ser92Lysfs)deletionPathogenic/ Likely pathogenicrs781205883GRCh37Chr 2, 26459759: 26459763
7HADHANM_ 000182.4(HADHA): c.919-2A> GSNVPathogenic/ Likely pathogenicrs200017313GRCh37Chr 2, 26435497: 26435497
8HADHANM_ 000182.4(HADHA): c.1918C> T (p.Gln640Ter)SNVPathogenicrs794727198GRCh37Chr 2, 26415261: 26415261
9HADHANM_ 000182.4(HADHA): c.2146+1G> ASNVPathogenicrs794727219GRCh37Chr 2, 26414351: 26414351
10HADHANM_ 000182.4(HADHA): c.403A> G (p.Lys135Glu)SNVLikely pathogenicrs794727700GRCh38Chr 2, 26234267: 26234267
11HADHANM_ 000182.4(HADHA): c.1690-2A> GSNVPathogenic/ Likely pathogenicrs1057516217GRCh37Chr 2, 26416643: 26416643
12HADHANM_ 000182.4(HADHA): c.1221-1G> CSNVLikely pathogenicrs1057516233GRCh37Chr 2, 26424190: 26424190
13HADHANM_ 000182.4(HADHA): c.240G> A (p.Trp80Ter)SNVLikely pathogenicrs1057516326GRCh38Chr 2, 26236929: 26236929
14HADHANM_ 000182.4(HADHA): c.2146+2T> CSNVLikely pathogenicrs1057516350GRCh38Chr 2, 26191481: 26191481
15HADHANM_ 000182.4(HADHA): c.453+1G> ASNVLikely pathogenicrs1057516417GRCh37Chr 2, 26457084: 26457084
16HADHANM_ 000182.4(HADHA): c.1086-3_ 1092del10deletionLikely pathogenicrs1057516460GRCh38Chr 2, 26204190: 26204199
17HADHANM_ 000182.4(HADHA): c.1237A> T (p.Lys413Ter)SNVLikely pathogenicrs1057516461GRCh37Chr 2, 26424173: 26424173
18HADHANM_ 000182.4(HADHA): c.1052delA (p.Lys351Argfs)deletionLikely pathogenicrs1057516556GRCh37Chr 2, 26432682: 26432682
19HADHANM_ 000182.4(HADHA): c.1811delG (p.Gly604Alafs)deletionPathogenic/ Likely pathogenicrs747985669GRCh38Chr 2, 26193651: 26193651
20HADHANM_ 000182.4(HADHA): c.1344_ 1345delGT (p.Phe449Terfs)deletionLikely pathogenicrs1057516734GRCh37Chr 2, 26424065: 26424066
21HADHANM_ 000182.4(HADHA): c.1590delC (p.Lys531Serfs)deletionLikely pathogenicrs1057516991GRCh37Chr 2, 26417991: 26417991
22HADHANM_ 000182.4(HADHA): c.1202delA (p.Gln401Argfs)deletionLikely pathogenicrs1057517087GRCh37Chr 2, 26426949: 26426949
23HADHANM_ 000182.4(HADHA): c.2071G> T (p.Glu691Ter)SNVLikely pathogenicrs1057517132GRCh38Chr 2, 26191558: 26191558
24HADHANM_ 000182.4(HADHA): c.515delC (p.Pro172Leufs)deletionLikely pathogenicrs1057517282GRCh38Chr 2, 26232218: 26232218
25HADHANM_ 000182.4(HADHA): c.1915_ 1918delTATC (p.Tyr639Argfs)deletionLikely pathogenicrs1057517397GRCh38Chr 2, 26192392: 26192395
26HADHANM_ 000182.4(HADHA): c.1A> G (p.Met1Val)SNVLikely pathogenicrs1057517430GRCh37Chr 2, 26467464: 26467464
27HADHANM_ 000182.4(HADHA): c.180+3A> GSNVPathogenicrs781222705GRCh37Chr 2, 26461799: 26461799
28HADHANM_ 000182.4(HADHA): c.157C> T (p.Arg53Ter)SNVPathogenicrs147103714GRCh37Chr 2, 26461825: 26461825

Expression for genes affiliated with Lchad Deficiency

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Search GEO for disease gene expression data for Lchad Deficiency.

Pathways for genes affiliated with Lchad Deficiency

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GO Terms for genes affiliated with Lchad Deficiency

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Sources for Lchad Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet