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	acyl-coa dehydrogenase, short-chain, deficiency of

Disease ID	1992
Disease	acyl-coa dehydrogenase, short-chain, deficiency of
Definition	A genetic disorder characterized by deficiency of the enzyme short-chain acyl-coenzyme A dehydrogenase that metabolizes short-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia, lethargy, hypotonia and failure to thrive.
Synonym	acads deficiency acadsd acyl-coa dehydrogenase, short-chain deficiency butyryl-coa dehydrogenase deficiency deficiency of butyryl dehydrogenase deficiency of butyryl-coa dehydrogenase deficiency of butyryl-coa dehydrogenase (disorder) deficiency of unsaturated acyl-coa reductase lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency scad scad - short chain acyl-coa dehydrogenase deficiency scad deficiency scadh deficiency short chain acyl coa dehydrogenase deficiency short chain acyl coa dehydrogenase deficiency (scad) short chain acyl-coa dehydrogenase deficiency short-chain acyl-coa dehydrogenase deficiency short-chain acyl-coa dehydrogenase deficiency (scad) short-chain acyl-coenzyme a dehydrogenase deficiency short-chain acyl-coenzyme a dehydrogenase deficiency (scad)
Orphanet	ORPHANET:26792
OMIM	OMIM:201470 OMIM:606885
ICD10	ICD10CM:E71.312
UMLS	C0342783
SNOMED-CT	SNOMEDCT_US_2016_09_01:124166007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:12) C0009319 \| colitis \| 9 C0027051 \| myocardial infarction \| 3 C0027051 \| myocardial infarct \| 3 C0016052 \| fibromuscular dysplasia \| 2 C0409974 \| lupus erythematosus \| 1 C0024796 \| marfan's syndrome \| 1 C0010068 \| coronary artery disease \| 1 C0020538 \| hypertension \| 1 C0155626 \| acute mi \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0009782 \| connective tissue disorder \| 1 C0009782 \| connective tissue disorders \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 35 \| ACADS \| CLINVAR;CTD_human;OMIM;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 34 \| ACADM \| CIPHER 35 \| ACADS \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:14) 34 \| ACADM \| 3.247 \| DISEASES 36 \| ACADSB \| 4.109 \| DISEASES 37 \| ACADVL \| 2.766 \| DISEASES 205 \| AK4 \| 2.145 \| DISEASES 875 \| CBS \| 1.748 \| DISEASES 1376 \| CPT2 \| 1.218 \| DISEASES 2108 \| ETFA \| 3.147 \| DISEASES 3030 \| HADHA \| 2.323 \| DISEASES 3155 \| HMGCL \| 3.403 \| DISEASES 5053 \| PAH \| 2.352 \| DISEASES 1468 \| SLC25A10 \| 4.487 \| DISEASES 10165 \| SLC25A13 \| 3.609 \| DISEASES 29110 \| TBK1 \| 2.515 \| DISEASES 23038 \| WDTC1 \| 1.848 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1992
Disease	acyl-coa dehydrogenase, short-chain, deficiency of
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:17) HP:0000750 \| Late-onset speech development HP:0001252 \| Hypotonia HP:0001250 \| Seizures HP:0000544 \| CPEO HP:0003198 \| Myopathic changes HP:0002500 \| Leukoaraiosis HP:0001371 \| Flexion contractures of joints HP:0001263 \| Developmental retardation HP:0003219 \| Ethylmalonic aciduria HP:0001254 \| Lethargy HP:0002650 \| Scoliosis HP:0000709 \| Psychosis HP:0001508 \| Weight faltering HP:0004911 \| Episodic metabolic acidosis HP:0010628 \| Facial palsy, unilateral or bilateral HP:0001638 \| Cardiomyopathy HP:0008872 \| Feeding difficulties in infancy
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:11) HP:0002583 \| Colitis \| 9 HP:0001658 \| Myocardial infarction \| 4 HP:0001297 \| Cerebral vascular events \| 2 HP:0001289 \| Confusion \| 1 HP:0003287 \| Abnormality of mitochondrial metabolism \| 1 HP:0001677 \| Coronary artery disease \| 1 HP:0000822 \| Hypertension \| 1 HP:0002597 \| Abnormality of blood vessels \| 1 HP:0001907 \| Thromboembolic disease \| 1 HP:0005294 \| Arterial dissection \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1

Disease ID	1992
Disease	acyl-coa dehydrogenase, short-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:23)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121908003	NA	35	ACADS	umls:C0342783	CLINVAR	NA	0.562714419	NA	ACADS	12	120727115	C	T
rs121908004	NA	35	ACADS	umls:C0342783	CLINVAR	NA	0.562714419	NA	ACADS	12	120737049	G	T
rs121908005	NA	35	ACADS	umls:C0342783	CLINVAR	NA	0.562714419	NA	ACADS	12	120737043	G	A
rs121908006	NA	35	ACADS	umls:C0342783	CLINVAR	NA	0.562714419	NA	ACADS	12	120738859	C	T
rs147442301	NA	35	ACADS	umls:C0342783	CLINVAR	NA	0.562714419	NA	ACADS	12	120727143	C	T
rs1799958	NA	35	ACADS	umls:C0342783	CLINVAR	NA	0.562714419	NA	ACADS	12	120738280	G	A
rs1800556	NA	35	ACADS	umls:C0342783	CLINVAR	NA	0.562714419	NA	ACADS	12	120737875	C	T
rs28940872	9499414	35	ACADS	umls:C0342783	UNIPROT	Expression of the variant R147W SCAD protein, encoded by the 511T-625G allele, in COS-7 cells showed 45% activity at 37 degrees C in comparison with the wild-type protein, comparable levels of activity at 26 degrees C, and 13% activity when incubated at 41 degrees C. This temperature profile is different from that observed for the variant G185S SCAD protein, encoded by the 511C-625A allele, where higher than normal activity was found at 26 and 37 degrees C, and 58% activity was present at 41 degrees C. These results corroborate the notion that the 511C-625A variant allele is one of the possible underlying causes of ethylmalonic aciduria, and suggest that the 511C-->T mutation represents a second susceptibility variation in the SCAD gene.	0.562714419	1998	ACADS	12	120739356	C	T
rs28940872	NA	35	ACADS	umls:C0342783	CLINVAR	NA	0.562714419	NA	ACADS	12	120739356	C	T
rs28940874	11134486	35	ACADS	umls:C0342783	UNIPROT	Our findings document that patients carrying these SCAD gene variations may develop clinically relevant SCAD deficiency, and that patients with even mild ethylmalonic aciduria should be tested for these variations.	0.562714419	2001	ACADS	12	120737939	C	T
rs28940874	NA	35	ACADS	umls:C0342783	CLINVAR	NA	0.562714419	NA	ACADS	12	120737939	C	T
rs28940875	NA	35	ACADS	umls:C0342783	CLINVAR	NA	0.562714419	NA	ACADS	12	120739347	C	G,T
rs28940875	11134486	35	ACADS	umls:C0342783	UNIPROT	Our findings document that patients carrying these SCAD gene variations may develop clinically relevant SCAD deficiency, and that patients with even mild ethylmalonic aciduria should be tested for these variations.	0.562714419	2001	ACADS	12	120739347	C	G,T
rs28941773	NA	35	ACADS	umls:C0342783	CLINVAR	NA	0.562714419	NA	ACADS	12	120739168	C	T
rs28941773	11134486	35	ACADS	umls:C0342783	UNIPROT	Our findings document that patients carrying these SCAD gene variations may develop clinically relevant SCAD deficiency, and that patients with even mild ethylmalonic aciduria should be tested for these variations.	0.562714419	2001	ACADS	12	120739168	C	T
rs387906308	NA	35	ACADS	umls:C0342783	CLINVAR	NA	0.562714419	NA	ACADS	12	120737085	GAG	-
rs387906950	NA	35	ACADS	umls:C0342783	CLINVAR	NA	0.562714419	NA	ACADS	12	120739141	A	G
rs387906951	NA	35	ACADS	umls:C0342783	CLINVAR	NA	0.562714419	NA	ACADS	12	120737098	G	A
rs57443665	9499414	35	ACADS	umls:C0342783	UNIPROT	Expression of the variant R147W SCAD protein, encoded by the 511T-625G allele, in COS-7 cells showed 45% activity at 37 degrees C in comparison with the wild-type protein, comparable levels of activity at 26 degrees C, and 13% activity when incubated at 41 degrees C. This temperature profile is different from that observed for the variant G185S SCAD protein, encoded by the 511C-625A allele, where higher than normal activity was found at 26 and 37 degrees C, and 58% activity was present at 41 degrees C. These results corroborate the notion that the 511C-625A variant allele is one of the possible underlying causes of ethylmalonic aciduria, and suggest that the 511C-->T mutation represents a second susceptibility variation in the SCAD gene.	0.562714419	1998	ACADS	12	120737893	T	C,G
rs57443665	NA	35	ACADS	umls:C0342783	CLINVAR	NA	0.562714419	NA	ACADS	12	120737893	T	C,G
rs61732144	NA	35	ACADS	umls:C0342783	CLINVAR	NA	0.562714419	NA	ACADS	12	120737094	C	T
rs752677472	NA	35	ACADS	umls:C0342783	CLINVAR	NA	0.562714419	NA	ACADS	12	120737404	C	G,T
rs786204691	NA	35	ACADS	umls:C0342783	CLINVAR	NA	0.562714419	NA	ACADS	12	120738337	GA	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

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

Mapped by lexical matching(Total Items:7)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0003219	Ethylmalonic aciduria	MP:0010028	aciduria	excretion of an acid urine
HP:0002500	Abnormality of the cerebral white matter	MP:0012129	failure of blastocyst formation	inability to form a blastocyst from a solid ball of cells known as a morula
HP:0008872	Feeding difficulties in infancy	MP:0011075	abnormal macrophage activation involved in immune response	anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response
HP:0001508	Failure to thrive	MP:0013294	prenatal lethality prior to heart atrial septation	death prior to the completion of heart atrial septation (Mus: E14.5-15.5)
HP:0001263	Global developmental delay	MP:0002084	abnormal developmental patterning	abnormal systematic arrangement of the developing body along an axis
HP:0001252	Muscular hypotonia	MP:0004144	hypotonia	decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness
HP:0000750	Delayed speech and language development	MP:0012251	abnormal diaphragm development	malformation or incomplete differentiation of the thin musculomembranous barrier separating the abdominal and thoracic cavities and functioning in respiration

Mapped by homologous gene(Total Items:17)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001252	Muscular hypotonia	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002650	Scoliosis	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000544	External ophthalmoplegia	MP:0020214	susceptible to malignant hyperthermia	increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0003198	Myopathy	MP:0020280	increased creatine kinase level	increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine
HP:0001263	Global developmental delay	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0003219	Ethylmalonic aciduria	MP:0013659	abnormal erythroid lineage cell morphology	any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes
HP:0001508	Failure to thrive	MP:0020234	decreased basal metabolism	decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0010628	Facial palsy	MP:0020240	increased skeletal muscle cell apoptosis	increase in the number of skeletal muscle cells undergoing programmed cell death
HP:0000750	Delayed speech and language development	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000709	Psychosis	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001250	Seizures	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001254	Lethargy	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001638	Cardiomyopathy	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0002500	Abnormality of the cerebral white matter	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0008872	Feeding difficulties in infancy	MP:0020214	susceptible to malignant hyperthermia	increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0001371	Flexion contracture	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0004911	Episodic metabolic acidosis	MP:0011632	dilated mitochondria	the luminal space of the mitochondria is increased in volume or area, usually with an increase of contained fluid

Disease ID	1992
Disease	acyl-coa dehydrogenase, short-chain, deficiency of
Case	(Waiting for update.)