MCID: 3LP002
MIFTS: 13

3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

Categories: Rare diseases

Aliases & Classifications for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

MalaCards integrated aliases for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency:

Name: 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency 20 6
Medium and Short Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 20
3-Hydroxylacyl-Coa Dehydrogenase Deficiency 20
3-Hydroxyacyl-Coa Dehydrogenase Deficiency 70
Hadh Deficiency 20
M/schad 20

Classifications:



External Ids:

UMLS 70 C1291230

Summaries for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 71212 Definition Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure. Epidemiology Less than 10 cases have been reported to date. Clinical description The disease can present in infancy or early childhood. It presents with the manifestations of hyperinsulinemic hypoglycemia with vomiting, lethargy and seizures. Complications include coma and sudden death. It has responded well to diazoxide. Etiology It is caused by a mutation in the HADH gene (4q22-q26) encoding the SCHAD protein that has a dual function both as an enzyme and an inhibitor of glutamate dehydrogenase. Genetic counseling The mode of inheritance is autosomal recessive and genetic counseling is possible.

MalaCards based summary : 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency, also known as medium and short chain 3-hydroxyacyl-coa dehydrogenase deficiency, is related to 3-hydroxyacyl-coa dehydrogenase deficiency and hyperinsulinemic hypoglycemia, familial, 4. An important gene associated with 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency is HADH (Hydroxyacyl-CoA Dehydrogenase).

Related Diseases for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

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

# Related Disease Score Top Affiliating Genes
1 3-hydroxyacyl-coa dehydrogenase deficiency 11.8
2 hyperinsulinemic hypoglycemia, familial, 4 11.8
3 hyperinsulinism 10.4

Symptoms & Phenotypes for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

Drugs & Therapeutics for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

Search Clinical Trials , NIH Clinical Center for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

Genetic Tests for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

Anatomical Context for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

Publications for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

Articles related to 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency:

# Title Authors PMID Year
1
Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening. 61
22579592 2012

Variations for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

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

6 (show top 50) (show all 73)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HADH NM_005327.5(HADH):c.118G>A (p.Ala40Thr) SNV Pathogenic 8018 rs137853101 GRCh37: 4:108911206-108911206
GRCh38: 4:107990050-107990050
2 HADH NM_005327.5(HADH):c.171C>A (p.Asp57Glu) SNV Pathogenic 8019 rs137853102 GRCh37: 4:108930953-108930953
GRCh38: 4:108009797-108009797
3 HADH NM_005327.7(HADH):c.261+1G>A SNV Pathogenic 802082 rs1398546361 GRCh37: 4:108931044-108931044
GRCh38: 4:108009888-108009888
4 HADH NM_005327.7(HADH):c.587del (p.Ser196fs) Deletion Pathogenic 802083 rs745727504 GRCh37: 4:108944670-108944670
GRCh38: 4:108023514-108023514
5 HADH NM_005327.7(HADH):c.710-822C>A SNV Pathogenic 1028360 GRCh37: 4:108953510-108953510
GRCh38: 4:108032354-108032354
6 HADH NM_005327.5(HADH):c.643C>A (p.Pro215Thr) SNV Conflicting interpretations of pathogenicity 549514 rs140413151 GRCh37: 4:108948850-108948850
GRCh38: 4:108027694-108027694
7 HADH NM_005327.5(HADH):c.676T>C (p.Tyr226His) SNV Conflicting interpretations of pathogenicity 212734 rs146036912 GRCh37: 4:108948883-108948883
GRCh38: 4:108027727-108027727
8 HADH NM_005327.5(HADH):c.456G>T (p.Gln152His) SNV Conflicting interpretations of pathogenicity 211127 rs1051519 GRCh37: 4:108940732-108940732
GRCh38: 4:108019576-108019576
9 HADH NM_005327.7(HADH):c.*279C>A SNV Uncertain significance 899454 GRCh37: 4:108955792-108955792
GRCh38: 4:108034636-108034636
10 HADH NM_005327.7(HADH):c.*335C>A SNV Uncertain significance 899455 GRCh37: 4:108955848-108955848
GRCh38: 4:108034692-108034692
11 HADH NM_005327.7(HADH):c.*377G>A SNV Uncertain significance 899456 GRCh37: 4:108955890-108955890
GRCh38: 4:108034734-108034734
12 HADH NC_000004.12:g.107989877C>A SNV Uncertain significance 900414 GRCh37: 4:108911033-108911033
GRCh38: 4:107989877-107989877
13 HADH NM_005327.7(HADH):c.-34C>T SNV Uncertain significance 900482 GRCh37: 4:108911055-108911055
GRCh38: 4:107989899-107989899
14 HADH NM_005327.7(HADH):c.688G>A (p.Ala230Thr) SNV Uncertain significance 900535 GRCh37: 4:108948895-108948895
GRCh38: 4:108027739-108027739
15 HADH NM_005327.7(HADH):c.710-14C>T SNV Uncertain significance 900536 GRCh37: 4:108954318-108954318
GRCh38: 4:108033162-108033162
16 HADH NM_005327.5(HADH):c.240G>A (p.Lys80=) SNV Uncertain significance 347133 rs748623569 GRCh37: 4:108931022-108931022
GRCh38: 4:108009866-108009866
17 HADH NM_005327.5(HADH):c.*305T>A SNV Uncertain significance 347138 rs3822294 GRCh37: 4:108955818-108955818
GRCh38: 4:108034662-108034662
18 HADH NM_005327.5(HADH):c.889G>A (p.Val297Ile) SNV Uncertain significance 347135 rs376876153 GRCh37: 4:108955457-108955457
GRCh38: 4:108034301-108034301
19 HADH NM_005327.5(HADH):c.21G>A (p.Gln7=) SNV Uncertain significance 347131 rs886058980 GRCh37: 4:108911109-108911109
GRCh38: 4:107989953-107989953
20 HADH NM_001184705.2(HADH):c.-195A>G SNV Uncertain significance 347122 rs886058979 GRCh37: 4:108910894-108910894
GRCh38: 4:107989738-107989738
21 HADH NM_005327.5(HADH):c.72G>A (p.Lys24=) SNV Uncertain significance 347132 rs781319494 GRCh37: 4:108911160-108911160
GRCh38: 4:107990004-107990004
22 HADH NM_005327.5(HADH):c.*661dup Duplication Uncertain significance 347140 rs886058981 GRCh37: 4:108956168-108956169
GRCh38: 4:108035012-108035013
23 HADH NM_005327.5(HADH):c.291G>T (p.Leu97=) SNV Uncertain significance 347134 rs552317372 GRCh37: 4:108935616-108935616
GRCh38: 4:108014460-108014460
24 HADH NM_005327.5(HADH):c.266G>A (p.Gly89Asp) SNV Uncertain significance 640701 rs1292646768 GRCh37: 4:108935591-108935591
GRCh38: 4:108014435-108014435
25 HADH NM_005327.5(HADH):c.908G>T (p.Gly303Val) SNV Uncertain significance 647412 rs575378007 GRCh37: 4:108955476-108955476
GRCh38: 4:108034320-108034320
26 HADH NM_005327.5(HADH):c.100G>C (p.Gly34Arg) SNV Uncertain significance 659541 rs779135938 GRCh37: 4:108911188-108911188
GRCh38: 4:107990032-107990032
27 HADH NM_005327.7(HADH):c.494G>A (p.Arg165Gln) SNV Uncertain significance 860765 GRCh37: 4:108940770-108940770
GRCh38: 4:108019614-108019614
28 HADH NM_001184705.2(HADH):c.-51del Deletion Uncertain significance 347128 rs574132278 GRCh37: 4:108911038-108911038
GRCh38: 4:107989882-107989882
29 HADH NM_001184705.2(HADH):c.-115del Deletion Uncertain significance 347124 rs537335460 GRCh37: 4:108910974-108910974
GRCh38: 4:107989818-107989818
30 HADH NM_005327.5(HADH):c.*600C>T SNV Uncertain significance 347139 rs544321475 GRCh37: 4:108956113-108956113
GRCh38: 4:108034957-108034957
31 HADH NM_005327.5(HADH):c.-36C>T SNV Uncertain significance 347130 rs746854470 GRCh37: 4:108911053-108911053
GRCh38: 4:107989897-107989897
32 HADH NM_001184705.2(HADH):c.-195A>C SNV Uncertain significance 347121 rs886058979 GRCh37: 4:108910894-108910894
GRCh38: 4:107989738-107989738
33 HADH NM_005327.5(HADH):c.643C>A (p.Pro215Thr) SNV Uncertain significance 549514 rs140413151 GRCh37: 4:108948850-108948850
GRCh38: 4:108027694-108027694
34 HADH NM_005327.7(HADH):c.725A>G (p.Glu242Gly) SNV Uncertain significance 1003601 GRCh37: 4:108954347-108954347
GRCh38: 4:108033191-108033191
35 HADH NM_005327.7(HADH):c.280G>C (p.Glu94Gln) SNV Uncertain significance 1005599 GRCh37: 4:108935605-108935605
GRCh38: 4:108014449-108014449
36 HADH NM_005327.7(HADH):c.740C>T (p.Ala247Val) SNV Uncertain significance 1007414 GRCh37: 4:108954362-108954362
GRCh38: 4:108033206-108033206
37 HADH NM_005327.7(HADH):c.761A>G (p.Tyr254Cys) SNV Uncertain significance 1009098 GRCh37: 4:108954383-108954383
GRCh38: 4:108033227-108033227
38 HADH NM_005327.7(HADH):c.380A>G (p.Lys127Arg) SNV Uncertain significance 962564 GRCh37: 4:108935705-108935705
GRCh38: 4:108014549-108014549
39 HADH NC_000004.11:g.(?_108911069)_(108955533_?)dup Duplication Uncertain significance 1020269 GRCh37: 4:108911069-108955533
GRCh38:
40 HADH NM_005327.7(HADH):c.820G>A (p.Val274Met) SNV Uncertain significance 1024954 GRCh37: 4:108954442-108954442
GRCh38: 4:108033286-108033286
41 HADH NM_005327.5(HADH):c.349G>C (p.Val117Leu) SNV Uncertain significance 652881 rs146732064 GRCh37: 4:108935674-108935674
GRCh38: 4:108014518-108014518
42 HADH NM_005327.7(HADH):c.479C>T (p.Thr160Ile) SNV Uncertain significance 864194 GRCh37: 4:108940755-108940755
GRCh38: 4:108019599-108019599
43 HADH NM_005327.7(HADH):c.159A>G (p.Val53=) SNV Uncertain significance 902149 GRCh37: 4:108930941-108930941
GRCh38: 4:108009785-108009785
44 HADH NM_005327.7(HADH):c.809C>T (p.Thr270Met) SNV Uncertain significance 902197 GRCh37: 4:108954431-108954431
GRCh38: 4:108033275-108033275
45 HADH NM_005327.7(HADH):c.823G>A (p.Asp275Asn) SNV Uncertain significance 902198 GRCh37: 4:108954445-108954445
GRCh38: 4:108033289-108033289
46 HADH NM_005327.7(HADH):c.825T>G (p.Asp275Glu) SNV Uncertain significance 902199 GRCh37: 4:108954447-108954447
GRCh38: 4:108033291-108033291
47 HADH NC_000004.12:g.107989847G>T SNV Uncertain significance 902970 GRCh37: 4:108911003-108911003
GRCh38: 4:107989847-107989847
48 HADH NM_005327.7(HADH):c.264C>T (p.Ala88=) SNV Uncertain significance 903028 GRCh37: 4:108935589-108935589
GRCh38: 4:108014433-108014433
49 HADH NM_005327.7(HADH):c.*142G>A SNV Uncertain significance 903080 GRCh37: 4:108955655-108955655
GRCh38: 4:108034499-108034499
50 HADH NC_000004.12:g.107989730A>G SNV Uncertain significance 902091 GRCh37: 4:108910886-108910886
GRCh38: 4:107989730-107989730

Expression for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

Search GEO for disease gene expression data for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency.

Pathways for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

GO Terms for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

Sources for 3-Alpha Hydroxyacyl-Coa Dehydrogenase Deficiency

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