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	acyl-coa dehydrogenase, medium chain, deficiency of

Disease ID	1991
Disease	acyl-coa dehydrogenase, medium chain, deficiency of
Definition	A genetic disorder characterized by deficiency of the enzyme medium-chain acyl-coenzyme A dehydrogenase that metabolizes medium-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia and lethargy.
Synonym	acadm deficiency acadmd acyl-coa dehydrogenase, medium-chain deficiency acyl-coa dehydrogenase, medium-chain, deficiency of carnitine deficiency secondary to medium-chain acyl-coa dehydrogenase deficiency deficiency of medium-chain acyl-coa dehydrogenase mcad mcad - medium chain acyl-coa dehydrogenase deficiency mcad deficiency mcadh deficiency medium chain acyl coa dehydrogenase deficiency medium chain acyl coa dehydrogenase deficiency (mcad) medium chain acyl-coa dehydrogenase deficiency medium chain acyl-coa dehydrogenase deficiency (disorder) medium-chain acyl-coa dehydrogenase deficiency medium-chain acyl-coenzyme a dehydrogenase deficiency medium-chain acyl-coenzyme a dehydrogenase deficiency (disorder)
Orphanet	ORPHANET:42
OMIM	OMIM:201450 OMIM:607008
ICD10	ICD10CM:E71.311
UMLS	C0220710
SNOMED-CT	SNOMEDCT_US_2016_09_01:128596003
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 34 \| ACADM \| CLINVAR;CTD_human;OMIM;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 34 \| ACADM \| CIPHER;CTD_human 35 \| ACADS \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:23) 30 \| ACAA1 \| 2.906 \| DISEASES 34 \| ACADM \| 6.942 \| DISEASES 36 \| ACADSB \| 4.078 \| DISEASES 37 \| ACADVL \| 4.636 \| DISEASES 149466 \| C1orf210 \| 1.403 \| DISEASES 978 \| CDA \| 2.074 \| DISEASES 1376 \| CPT2 \| 2.328 \| DISEASES 1557 \| CYP2C19 \| 1.585 \| DISEASES 1644 \| DDC \| 2.04 \| DISEASES 2108 \| ETFA \| 1.134 \| DISEASES 2731 \| GLDC \| 2.951 \| DISEASES 2882 \| GPX7 \| 3.233 \| DISEASES 3033 \| HADH \| 3.28 \| DISEASES 3030 \| HADHA \| 4.258 \| DISEASES 8091 \| HMGA2 \| 1.308 \| DISEASES 3155 \| HMGCL \| 3.954 \| DISEASES 3980 \| LIG3 \| 1.907 \| DISEASES 4522 \| MTHFD1 \| 2.567 \| DISEASES 4868 \| NPHS1 \| 1.357 \| DISEASES 4893 \| NRAS \| 1.064 \| DISEASES 10165 \| SLC25A13 \| 3.762 \| DISEASES 788 \| SLC25A20 \| 2.723 \| DISEASES 23038 \| WDTC1 \| 1.442 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1991
Disease	acyl-coa dehydrogenase, medium chain, deficiency of
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0001297 \| Cerebral vascular events \| 2 HP:0002140 \| Ischemic stroke \| 1 HP:0004756 \| Ventricular tachycardia \| 1 HP:0005184 \| Prolonged QTc interval \| 1 HP:0001649 \| Tachycardia \| 1

Disease ID	1991
Disease	acyl-coa dehydrogenase, medium chain, deficiency of
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:28)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121434274	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM	1	75749509	G	A
rs121434275	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM	1	75761300	T	C
rs121434276	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM	1	75749440	T	C
rs121434277	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM	1	75734850	G	A,T
rs121434278	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM	1	75740094	G	A
rs121434279	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM	1	75740088	A	G
rs121434280	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM	1	75732724	T	C
rs121434281	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM	1	75749444	C	T
rs121434282	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM	1	75749552	G	C
rs121434283	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM	1	75733603	C	T
rs147559466	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM	1	75732652	G	A
rs148207467	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM	1	75761221	C	T
rs200724875	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM;DLSTP1	1	75745823	G	A
rs373715782	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM;DLSTP1	1	75745822	C	T
rs387906297	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM	1	75761278	TTAG	-
rs398123072	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM	1	75732682	C	T
rs398123073	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM	1	75732743	T	G
rs398123074	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM	1	75732869	T	C
rs761317029	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM	1	75750449	A	G
rs77931234	23829193	34	ACADM	umls:C0220710	BeFree	About 60% of MCADD patients are homozygous for the c.985A>G (p.Lys329Glu) mutation in the ACADM gene (G985 allele).	0.579902471	2013	ACADM	1	75761161	A	G
rs77931234	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM	1	75761161	A	G
rs77931234	11486912	34	ACADM	umls:C0220710	UNIPROT	Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.	0.579902471	2001	ACADM	1	75761161	A	G
rs786204424	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM	1	75733629	G	-
rs786204522	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM	1	75761187	-	TAGAATGAGTTAC
rs786204566	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM	1	75732880	-	T
rs786204631	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM	1	75761153	T	C
rs786204642	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM	1	75734852	CTGA	-
rs794727694	NA	34	ACADM	umls:C0220710	CLINVAR	NA	0.579902471	NA	ACADM	1	75733527	G	C

GWASdb Annotation(Total Genotypes:9)
Chr	Pos	SNP_Id	RefGene	EnsemblGene	ENCODE_Factor	ENCODE_TFBS	Chromosome_interaction	GTEx_eQTL	SNP_TFBS_affinity_GWAS3D	SNP_miRNA_target_affinity_PolymiRTS	SNP_splicing_effect_Skippy	SNP_splicing_effect_MutPred_Splice	SNP_ns_protein_effect_dbNSFP	SNP_syn_effect_Silva	SNP_phosphorylation_effect_PhosSNP	PhastCons_score	PhyloP_score	GERP++_RS	Segway_state	Ancestral_allele	ESP_AF	ESP_AFR	ESP_AFR	ESP_EUR	TG_ASN	TG_AMR	TG_AFR	TG_EUR	Type	Consequence	bStatistic	EncH3K27Ac	EncH3K4Me1	EncH3K4Me3	EncNucleo	OMIM	Clinvar
1	76206490	rs12744608	NM_000016,ACADM	NM_001127328,ACADM	ENST00000370841,ENSG00000117054	ENST00000526196,ENSG00000117054	ENST00000526129,ENSG00000117054	ENST00000370834,ENSG00000117054	ENST00000532509,ENSG00000117054	ENST00000530953,ENSG00000117054	ENST00000525808,ENSG00000117054	ENST00000534334,ENSG00000117054	ENST00000420607,ENSG00000117054	ENST00000529059,ENSG00000117054	ENST00000526930,ENSG00000117054	NA	NA	chr1,76187424,76206872,chr1,76248839,76266043,76,ChIA-PET	chr1,76200001,76210000,chr1,76140001,76150000,104,Hi-C	chr1,76200001,76210000,chr1,12280001,12290000,8,Hi-C	NA	LM30,1.9404	LM54,1.922	LM164,5.655	LM183,1.3189	LM205,2.4584	NA	NA	NA	NA	NA	NA	0.006	0.285	1.03	GE0	G
1	76209792	rs1146579	NM_000016,ACADM	NM_001127328,ACADM	ENST00000370841,ENSG00000117054	ENST00000526196,ENSG00000117054	ENST00000526129,ENSG00000117054	ENST00000370834,ENSG00000117054	ENST00000532509,ENSG00000117054	ENST00000530953,ENSG00000117054	ENST00000525808,ENSG00000117054	ENST00000534334,ENSG00000117054	ENST00000420607,ENSG00000117054	ENST00000529059,ENSG00000117054	ENST00000526930,ENSG00000117054	ENST00000320606,ENSG00000181227	ENST00000444241,ENSG00000181227	ENST00000444241.1	NA	chr1,76200001,76210000,chr1,76140001,76150000,104,Hi-C	chr1,76200001,76210000,chr1,12280001,12290000,8,Hi-C	NA	Cep3-primary,1.9401	Ecm22-primary,1.576	Gal4-primary,63.2911	Gal4-primary,8.1791	Gsm1-FL-primary,3.308	NA	NA	NA	NA	NA	NA	0.995	0.395	-0.309	GE1
1	76210289	rs11161510	NM_000016,ACADM	NM_001127328,ACADM	ENST00000370841,ENSG00000117054	ENST00000526196,ENSG00000117054	ENST00000526129,ENSG00000117054	ENST00000370834,ENSG00000117054	ENST00000532509,ENSG00000117054	ENST00000530953,ENSG00000117054	ENST00000525808,ENSG00000117054	ENST00000534334,ENSG00000117054	ENST00000420607,ENSG00000117054	ENST00000529059,ENSG00000117054	ENST00000526930,ENSG00000117054	ENST00000320606,ENSG00000181227	ENST00000444241,ENSG00000181227	ENST00000532207,ENSG00000117054	ENST00000444241.1	MCV-1	NA	chr1,76210001,76220000,chr1,74910001,74920000,44,Hi-C	chr1,76210001,76220000,chr3,15110001,15120000,5,Hi-C	chr1,76210001,76220000,chr1,62130001,62140000,5,Hi-C	chr1,76210001,76220000,chr1,73390001,73400000,7,Hi-C	chr1,76210001,76220000,chr4,122800001,122810000,9,Hi-C	chr1,76210001,76220000,chr3,77410001,77420000,9,Hi-C	chr1,76210001,76220000,chr1,71790001,71800000,6,Hi-C	chr1,76210001,76220000,chr17,66570001,66580000,7,Hi-C	chr1,76210001,76220000,chrX,18830001,18840000,8,Hi-C	NA	LM12,6.2446	LM44,1.6397	LM70,1.4741	LM89,1.3561	LM140,2.2737	NA
1	76210477	rs11161511	NM_000016,ACADM	NM_001127328,ACADM	ENST00000370841,ENSG00000117054	ENST00000526196,ENSG00000117054	ENST00000526129,ENSG00000117054	ENST00000370834,ENSG00000117054	ENST00000532509,ENSG00000117054	ENST00000530953,ENSG00000117054	ENST00000525808,ENSG00000117054	ENST00000534334,ENSG00000117054	ENST00000420607,ENSG00000117054	ENST00000529059,ENSG00000117054	ENST00000526930,ENSG00000117054	ENST00000320606,ENSG00000181227	ENST00000444241,ENSG00000181227	ENST00000532207,ENSG00000117054	NA	NA	chr1,76210001,76220000,chr1,74910001,74920000,44,Hi-C	chr1,76210001,76220000,chr3,15110001,15120000,5,Hi-C	chr1,76210001,76220000,chr1,62130001,62140000,5,Hi-C	chr1,76210001,76220000,chr1,73390001,73400000,7,Hi-C	chr1,76210001,76220000,chr4,122800001,122810000,9,Hi-C	chr1,76210001,76220000,chr3,77410001,77420000,9,Hi-C	chr1,76210001,76220000,chr1,71790001,71800000,6,Hi-C	chr1,76210001,76220000,chr17,66570001,66580000,7,Hi-C	chr1,76210001,76220000,chrX,18830001,18840000,8,Hi-C	NA	Asg1-DBD-primary,3.2548	Cha4-primary,2.7439	Gal4-primary,32.6527	Hoxb9_3413,1.8322	Rdr1-DBD-primary,1.3533	NA	NA
1	76213024	rs1146581	NM_000016,ACADM	NM_001127328,ACADM	ENST00000370841,ENSG00000117054	ENST00000526196,ENSG00000117054	ENST00000526129,ENSG00000117054	ENST00000370834,ENSG00000117054	ENST00000532509,ENSG00000117054	ENST00000530953,ENSG00000117054	ENST00000525808,ENSG00000117054	ENST00000534334,ENSG00000117054	ENST00000420607,ENSG00000117054	ENST00000529059,ENSG00000117054	ENST00000526930,ENSG00000117054	ENST00000532207,ENSG00000117054	NA	NA	chr1,76210001,76220000,chr1,74910001,74920000,44,Hi-C	chr1,76210001,76220000,chr3,15110001,15120000,5,Hi-C	chr1,76210001,76220000,chr1,62130001,62140000,5,Hi-C	chr1,76210001,76220000,chr1,73390001,73400000,7,Hi-C	chr1,76210001,76220000,chr4,122800001,122810000,9,Hi-C	chr1,76210001,76220000,chr3,77410001,77420000,9,Hi-C	chr1,76210001,76220000,chr1,71790001,71800000,6,Hi-C	chr1,76210001,76220000,chr17,66570001,66580000,7,Hi-C	chr1,76210001,76220000,chrX,18830001,18840000,8,Hi-C	NA	NA	NA	NA	NA	NA	NA	NA	0.006	0.095
1	76214508	rs9660848	NM_000016,ACADM	NM_001127328,ACADM	ENST00000370841,ENSG00000117054	ENST00000526196,ENSG00000117054	ENST00000526129,ENSG00000117054	ENST00000370834,ENSG00000117054	ENST00000532509,ENSG00000117054	ENST00000530953,ENSG00000117054	ENST00000525808,ENSG00000117054	ENST00000534334,ENSG00000117054	ENST00000420607,ENSG00000117054	ENST00000529059,ENSG00000117054	ENST00000526930,ENSG00000117054	ENST00000532207,ENSG00000117054	ENST00000528016,ENSG00000117054	NA	NA	chr1,76210001,76220000,chr1,74910001,74920000,44,Hi-C	chr1,76210001,76220000,chr3,15110001,15120000,5,Hi-C	chr1,76210001,76220000,chr1,62130001,62140000,5,Hi-C	chr1,76210001,76220000,chr1,73390001,73400000,7,Hi-C	chr1,76210001,76220000,chr4,122800001,122810000,9,Hi-C	chr1,76210001,76220000,chr3,77410001,77420000,9,Hi-C	chr1,76210001,76220000,chr1,71790001,71800000,6,Hi-C	chr1,76210001,76220000,chr17,66570001,66580000,7,Hi-C	chr1,76210001,76220000,chrX,18830001,18840000,8,Hi-C	NA	LM6,2.6155	LM11,1.6976	LM61,1.5196	LM137,8.1974	LM160,2.3555	NA	NA	NA
1	76216330	rs11161521	NM_000016,ACADM	NM_001127328,ACADM	ENST00000370841,ENSG00000117054	ENST00000526196,ENSG00000117054	ENST00000526129,ENSG00000117054	ENST00000370834,ENSG00000117054	ENST00000530953,ENSG00000117054	ENST00000525808,ENSG00000117054	ENST00000534334,ENSG00000117054	ENST00000420607,ENSG00000117054	ENST00000529059,ENSG00000117054	ENST00000532207,ENSG00000117054	ENST00000528016,ENSG00000117054	ENST00000481374,ENSG00000117054	NA	NA	chr1,76210001,76220000,chr1,74910001,74920000,44,Hi-C	chr1,76210001,76220000,chr3,15110001,15120000,5,Hi-C	chr1,76210001,76220000,chr1,62130001,62140000,5,Hi-C	chr1,76210001,76220000,chr1,73390001,73400000,7,Hi-C	chr1,76210001,76220000,chr4,122800001,122810000,9,Hi-C	chr1,76210001,76220000,chr3,77410001,77420000,9,Hi-C	chr1,76210001,76220000,chr1,71790001,71800000,6,Hi-C	chr1,76210001,76220000,chr17,66570001,66580000,7,Hi-C	chr1,76210001,76220000,chrX,18830001,18840000,8,Hi-C	NA	LM25,1.42	LM29,1.935	LM38,8.2149	LM81,10.7224	LM83,2.4383	NA	NA	NA	NA
1	76219801	rs1694419	NM_000016,ACADM	NM_001127328,ACADM	ENST00000370841,ENSG00000117054	ENST00000526196,ENSG00000117054	ENST00000526129,ENSG00000117054	ENST00000370834,ENSG00000117054	ENST00000525808,ENSG00000117054	ENST00000534334,ENSG00000117054	ENST00000420607,ENSG00000117054	ENST00000529059,ENSG00000117054	ENST00000532207,ENSG00000117054	ENST00000528016,ENSG00000117054	ENST00000481374,ENSG00000117054	NA	NA	chr1,76210001,76220000,chr1,74910001,74920000,44,Hi-C	chr1,76210001,76220000,chr3,15110001,15120000,5,Hi-C	chr1,76210001,76220000,chr1,62130001,62140000,5,Hi-C	chr1,76210001,76220000,chr1,73390001,73400000,7,Hi-C	chr1,76210001,76220000,chr4,122800001,122810000,9,Hi-C	chr1,76210001,76220000,chr3,77410001,77420000,9,Hi-C	chr1,76210001,76220000,chr1,71790001,71800000,6,Hi-C	chr1,76210001,76220000,chr17,66570001,66580000,7,Hi-C	chr1,76210001,76220000,chrX,18830001,18840000,8,Hi-C	NA	LM29,10.7556	LM42,3.412	LM52,1.8803	LM52,1.3355	LM54,1.4949	NA	NA	NA	NA	NA
1	76227974	rs1146586	NM_000016,ACADM	NM_001127328,ACADM	ENST00000370841,ENSG00000117054	ENST00000526196,ENSG00000117054	ENST00000526129,ENSG00000117054	ENST00000370834,ENSG00000117054	ENST00000525808,ENSG00000117054	ENST00000420607,ENSG00000117054	ENST00000529059,ENSG00000117054	ENST00000528016,ENSG00000117054	ENST00000481374,ENSG00000117054	NA	NA	chr1,76220001,76230000,chr1,73440001,73450000,6,Hi-C	NA	LM109,1.7809	LM170,3.3298	ACCTGTTG,5.6336	NA	NA	NA	NA	NA	NA	0.000	-1.152	-5.77	GE0	C	NA	NA	NA	NA	NA	NA

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1991
Disease	acyl-coa dehydrogenase, medium chain, deficiency of
Case	(Waiting for update.)