MSUD
MCID: MPL012
MIFTS: 54

Maple Syrup Urine Disease, Type Ii (MSUD) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Nephrological diseases

Aliases & Classifications for Maple Syrup Urine Disease, Type Ii

Aliases & Descriptions for Maple Syrup Urine Disease, Type Ii:

Name: Maple Syrup Urine Disease, Type Ii 54 13 69
Maple Syrup Urine Disease 54 12 23 50 24 25 56 66 29 52 42 14 69
Bckd Deficiency 23 50 24 25 56 66
Msud 23 50 24 25 56 66
Branched-Chain Ketoaciduria 23 24 25 56 66
Classic Maple Syrup Urine Disease 56 66 29 69
Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency 50 25 66
Intermittent Maple Syrup Urine Disease 56 66 69
Branched-Chain Ketoacid Dehydrogenase Deficiency 23 24
Thiamine-Responsive Maple Syrup Urine Disease 56 66
Intermediate Maple Syrup Urine Disease 66 69
Maple Syrup Urine Disease, Type Ia 54 69
Keto Acid Decarboxylase Deficiency 50 66
Maple Syrup Urine Disease Type 1a 50 24
Maple Syrup Urine Disease Type 1b 50 24
Maple Syrup Urine Disease Type Ia 66 29
Maple Syrup Urine Disease Type Ib 66 29
Maple Syrup Urine Disease Type Ii 66 29
Maple Syrup Urine Disease Type 2 50 24
Branched Chain Ketoaciduria 12 50
Maple Syrup Disease 23 24
Msud Type Ib 50 66
Msud2 50 66
Msud Due to Deficiency of E1-Beta Subunit of Branched-Chain Alpha-Keto Acid Dehydrogenase Complex 50
Thiamine-Responsive Branched-Chain 2-Ketoacid Dehydrogenase Deficiency 56
Intermittent Branched-Chain 2-Ketoacid Dehydrogenase Deficiency 56
Lactic Acidosis, Congenital Infantile, Due to Lad Deficiency 69
Classic Branched-Chain 2-Ketoacid Dehydrogenase Deficiency 56
Branched-Chain 2-Ketoacid Dehydrogenase Deficiency 56
Dihydrolipoamide Dehydrogenase Deficiency 12
Nadh Cytochrome B5 Reductase Deficiency 69
Classic Branched-Chain Ketoaciduria 56
Thiamine-Responsive Bckd Deficiency 56
Maple Syrup Urine Disease, Type Ib 54
Maple Syrup Urine Disease, Type 1b 69
Intermittent Bckd Deficiency 56
Maple Syrup Urine Disease 1a 66
Maple Syrup Urine Disease 1b 66
Maple Syrup Urine Disease 2 66
Thiamine-Responsive Msud 56
Classic Bckd Deficiency 56
Intermittent Msud 56
Bckdh Deficiency 56
Ketoacidaemia 12
Msud Type 1a 50
Ketoacidemia 25
Classic Msud 56
Msud Type Ia 66
Msud Type Ii 66
Msud Type 2 50
Ketonemia 69
Msud1a 66
Msud1b 66

Characteristics:

Orphanet epidemiological data:

56
maple syrup urine disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (United States),1-9/1000000 (Italy),1-9/100000 (Tunisia),1-9/1000000 (Japan),1-9/100000 (Portugal),1-9/1000000 (Australia),1-9/1000000 (Taiwan, Province of China); Age of onset: Childhood,Infancy,Neonatal; Age of death: early childhood,infantile,late childhood;
classic maple syrup urine disease
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: any age;
thiamine-responsive maple syrup urine disease
Inheritance: Autosomal recessive; Age of onset: Infancy;
intermittent maple syrup urine disease
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

32
maple syrup urine disease, type ii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

OMIM 54 248600
Disease Ontology 12 DOID:9269
ICD10 33 E71.0
MeSH 42 D008375
NCIt 47 C34806
SNOMED-CT 64 27718001
ICD10 via Orphanet 34 E71.0
MESH via Orphanet 43 D008375
UMLS via Orphanet 70 C0024776 C0268576 C0268568 more
UMLS 69 C0024776

Summaries for Maple Syrup Urine Disease, Type Ii

UniProtKB/Swiss-Prot : 66 Maple syrup urine disease: A metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched- chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated.

MalaCards based summary : Maple Syrup Urine Disease, Type Ii, also known as maple syrup urine disease, is related to maple syrup urine disease, mild variant and intermediate maple syrup urine disease, and has symptoms including ataxia, seizures and intellectual disability. An important gene associated with Maple Syrup Urine Disease, Type Ii is BCKDHB (Branched Chain Keto Acid Dehydrogenase E1 Subunit Beta), and among its related pathways/superpathways are Metabolism and Viral mRNA Translation. The drug 4-phenylbutyric acid has been mentioned in the context of this disorder. Related phenotypes are homeostasis/metabolism and behavior/neurological

Disease Ontology : 12 An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures.

Genetics Home Reference : 25 Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine and is also characterized by poor feeding, vomiting, lack of energy (lethargy), and developmental delay. If untreated, maple syrup urine disease can lead to seizures, coma, and death.

NIH Rare Diseases : 50 maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. beginning in early infancy, this condition is characterized by poor feeding, vomiting, lack of energy (lethargy), seizures, and developmental delay. the urine of affected infants has a distinctive sweet odor, much like burned caramel, that gives the condition its name. maple syrup urine disease can be life-threatening if untreated. last updated: 5/10/2012

OMIM : 54 Maple syrup urine disease caused by mutation in the E1-alpha subunit gene is referred to as MSUD type IA; that caused... (248600) more...

GeneReviews: NBK1319

Related Diseases for Maple Syrup Urine Disease, Type Ii

Diseases in the Intermediate Maple Syrup Urine Disease family:

Maple Syrup Urine Disease, Type Ii

Diseases related to Maple Syrup Urine Disease, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
id Related Disease Score Top Affiliating Genes
1 maple syrup urine disease, mild variant 33.7 ACADM ACADVL HADHA
2 intermediate maple syrup urine disease 12.6
3 dihydrolipoamide dehydrogenase deficiency 12.6
4 myosclerosis, congenital 10.2 HMGCL OTC
5 isolated trigonocephaly 10.1 BCKDHA BCKDHB DBT PPM1K
6 ifitm5-related osteogenesis imperfecta 10.1 BCAT1 BCAT2
7 encephalopathy 10.0
8 muscular dystrophy, limb-girdle, type ic 10.0 ACADM BTD
9 hyperekplexia 2, autosomal recessive 10.0 ACADM HMGCL OTC
10 hermansky-pudlak syndrome 9 10.0 ACADM HMGCL
11 lactic acidosis 10.0
12 pain disorder 10.0 ACADM BCKDHB BTD HMGCL
13 waldenstrom macroglobulinemia 9.9 ACADVL OTC
14 cystinosis, ocular nonnephropathic 9.9 ACADVL HADHA HMGCL
15 malignant cardiac peripheral nerve sheath neoplasm 9.9 ACADM HADHA HMGCL OTC
16 gum cancer 9.9 ACADM BTD
17 acute liver failure 9.9
18 myopathy 9.9
19 2-methylacetoacetyl coa thiolase deficiency 9.9
20 vitamin metabolic disorder 9.8 ACADM ACADVL HMGCL
21 borderline glaucoma 9.8 ACADM BCKDHB MMD PAH
22 fibular hypoplasia 9.8 ACADM ACADVL HADHA
23 atrial fibrillation, familial, 4 9.8 ACADM ACADVL BTD
24 leopard syndrome 1 9.7 ACADM BTD HADHA NIPSNAP1 PAH
25 acute insulin response 9.7 ACADM ACADVL BTD HADHA
26 retinitis pigmentosa 4, autosomal dominant or recessive 9.7 ACADM ACADVL HMGCL OTC
27 obesity, morbid, due to leptin receptor deficiency 8.0 ACADM ACADVL BCAT1 BCAT2 BCKDHA BCKDHB

Graphical network of the top 20 diseases related to Maple Syrup Urine Disease, Type Ii:



Diseases related to Maple Syrup Urine Disease, Type Ii

Symptoms & Phenotypes for Maple Syrup Urine Disease, Type Ii

Symptoms by clinical synopsis from OMIM:

248600

Clinical features from OMIM:

248600

Human phenotypes related to Maple Syrup Urine Disease, Type Ii:

56 32 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Frequent (79-30%) HP:0001251
2 seizures 56 32 Very frequent (99-80%) HP:0001250
3 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
4 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
5 respiratory insufficiency 56 32 Very frequent (99-80%) HP:0002093
6 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
7 hemiplegia/hemiparesis 56 32 Frequent (79-30%) HP:0004374
8 reduced tendon reflexes 56 32 Very frequent (99-80%) HP:0001315
9 abnormality of the voice 56 32 Very frequent (99-80%) HP:0001608
10 abnormality of the pharynx 56 32 Very frequent (99-80%) HP:0000600
11 elevated plasma branched chain amino acids 56 32 Very frequent (99-80%) HP:0008344
12 vomiting 32 HP:0002013
13 lethargy 32 HP:0001254
14 hallucinations 32 HP:0000738
15 hypertonia 32 HP:0001276
16 feeding difficulties in infancy 32 HP:0008872
17 hypoglycemia 32 HP:0001943
18 pancreatitis 32 HP:0001733
19 lactic acidosis 32 HP:0003128
20 coma 32 HP:0001259
21 cerebral edema 32 HP:0002181
22 ketosis 32 HP:0001946
23 growth abnormality 32 HP:0001507

UMLS symptoms related to Maple Syrup Urine Disease, Type Ii:


ataxia, lethargy, seizures, vomiting, cyanosis, headache, dyspnea on exertion

MGI Mouse Phenotypes related to Maple Syrup Urine Disease, Type Ii:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 BCKDK BTD DBT HADHA HMGCL NIPSNAP1
2 behavior/neurological MP:0005386 9.97 ACADVL BCAT2 BCKDK BTD DBT HMGCL
3 integument MP:0010771 9.7 BCAT2 BCKDK BTD DBT NIPSNAP1 OTC
4 liver/biliary system MP:0005370 9.43 OTC ACADM ACADVL BCKDK HADHA HMGCL
5 renal/urinary system MP:0005367 9.17 BCAT2 BCKDK BTD DBT HADHA OTC

Drugs & Therapeutics for Maple Syrup Urine Disease, Type Ii

Drugs for Maple Syrup Urine Disease, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 4-phenylbutyric acid Phase 2, Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase
1 Phenylbutyrate Therapy for Maple Syrup Urine Disease Active, not recruiting NCT01529060 Phase 2, Phase 3
2 Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria Completed NCT01659749

Search NIH Clinical Center for Maple Syrup Urine Disease, Type Ii

Cochrane evidence based reviews: maple syrup urine disease

Genetic Tests for Maple Syrup Urine Disease, Type Ii

Genetic tests related to Maple Syrup Urine Disease, Type Ii:

id Genetic test Affiliating Genes
1 Maple Syrup Urine Disease Type 1a 29 24 BCKDHA
2 Maple Syrup Urine Disease 29 24
3 Maple Syrup Urine Disease Type 1b 29 24 BCKDHB
4 Maple Syrup Urine Disease Type 2 29 24 DBT
5 Classical Maple Syrup Urine Disease 29

Anatomical Context for Maple Syrup Urine Disease, Type Ii

Publications for Maple Syrup Urine Disease, Type Ii

Variations for Maple Syrup Urine Disease, Type Ii

UniProtKB/Swiss-Prot genetic disease variations for Maple Syrup Urine Disease, Type Ii:

66 (show all 19)
id Symbol AA change Variation ID SNP ID
1 BCKDHA p.Arg159Trp VAR_004968 rs769688327
2 BCKDHA p.Gln190Lys VAR_004969
3 BCKDHA p.Ala253Thr VAR_004970 rs199599175
4 BCKDHA p.Ile326Thr VAR_004971
5 BCKDHA p.Tyr413Cys VAR_004972
6 BCKDHA p.Tyr438Asn VAR_004973 rs137852870
7 BCKDHA p.Gly290Arg VAR_015101 rs137852871
8 BCKDHA p.Phe409Cys VAR_015102 rs137852872
9 BCKDHA p.Thr211Met VAR_069748 rs398123503
10 BCKDHA p.Ala220Val VAR_069749 rs375785084
11 BCKDHA p.Arg346Cys VAR_069750 rs182923857
12 BCKDHB p.His206Arg VAR_004974
13 BCKDHB p.Arg183Pro VAR_024851 rs28934895
14 BCKDHB p.Gly278Ser VAR_024852 rs386834233
15 BCKDHB p.Arg170His VAR_068348 rs371518124
16 BCKDHB p.Gln346Arg VAR_068349
17 DBT p.Phe276Cys VAR_004978
18 DBT p.Ile98Met VAR_015099
19 DBT p.Gly384Ser VAR_015100 rs12021720

ClinVar genetic disease variations for Maple Syrup Urine Disease, Type Ii:

6 (show top 50) (show all 113)
id Gene Variation Type Significance SNP ID Assembly Location
1 BCKDHA NM_000709.3(BCKDHA): c.1312T> A (p.Tyr438Asn) single nucleotide variant Pathogenic rs137852870 GRCh37 Chromosome 19, 41930487: 41930487
2 BCKDHA BCKDHA, 8-BP DEL, 887-894 deletion Pathogenic
3 BCKDHA NM_000709.3(BCKDHA): c.868G> A (p.Gly290Arg) single nucleotide variant Pathogenic rs137852871 GRCh37 Chromosome 19, 41928548: 41928548
4 BCKDHA NM_000709.3(BCKDHA): c.1226T> G (p.Phe409Cys) single nucleotide variant Pathogenic rs137852872 GRCh37 Chromosome 19, 41930401: 41930401
5 BCKDHA NM_000709.3(BCKDHA): c.793C> T (p.Arg265Trp) single nucleotide variant Pathogenic rs137852873 GRCh37 Chromosome 19, 41928215: 41928215
6 BCKDHA NM_000709.3(BCKDHA): c.745G> A (p.Gly249Ser) single nucleotide variant Pathogenic rs137852874 GRCh37 Chromosome 19, 41928167: 41928167
7 BCKDHA NM_000709.3(BCKDHA): c.929C> G (p.Thr310Arg) single nucleotide variant Pathogenic rs137852875 GRCh37 Chromosome 19, 41928609: 41928609
8 BCKDHA NM_000709.3(BCKDHA): c.792C> G (p.Cys264Trp) single nucleotide variant Pathogenic rs137852876 GRCh37 Chromosome 19, 41928214: 41928214
9 BCKDHA BCKDHA, 1-BP DEL, 117C deletion Pathogenic
10 BCKDHB NM_183050.3(BCKDHB): c.548G> C (p.Arg183Pro) single nucleotide variant Pathogenic/Likely pathogenic rs79761867 GRCh37 Chromosome 6, 80878662: 80878662
11 DBT NM_001918.3: c.48_171del124 deletion Pathogenic
12 DBT NM_001918.3(DBT): c.827T> G (p.Phe276Cys) single nucleotide variant Pathogenic rs121964999 GRCh37 Chromosome 1, 100680485: 100680485
13 DBT NM_001918.3(DBT): c.940_1017del78 deletion Pathogenic rs796052134 GRCh38 Chromosome 1, 100210693: 100210693
14 DBT NM_001918.3(DBT): c.75_76delAT (p.Cys26Trpfs) deletion Pathogenic rs768832921 GRCh37 Chromosome 1, 100706416: 100706417
15 DBT NM_001918.3(DBT): c.1282-4142_*(434_435)del deletion Pathogenic GRCh38 Chromosome 1, 100195820: 100200564
16 DBT NM_001918.3(DBT): c.581C> G (p.Ser194Ter) single nucleotide variant Pathogenic rs121965003 GRCh37 Chromosome 1, 100681730: 100681730
17 BCKDHB NM_183050.3(BCKDHB): c.1114G> T (p.Glu372Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834234 GRCh37 Chromosome 6, 81053456: 81053456
18 BCKDHB NM_183050.3(BCKDHB): c.832G> A (p.Gly278Ser) single nucleotide variant Pathogenic rs386834233 GRCh37 Chromosome 6, 80910740: 80910740
19 BCKDHA NM_000709.3(BCKDHA): c.1036C> T (p.Arg346Cys) single nucleotide variant Pathogenic rs182923857 GRCh37 Chromosome 19, 41928943: 41928943
20 BCKDHA NM_000709.3(BCKDHA): c.117delC (p.Arg40Glyfs) deletion Pathogenic rs398123489 GRCh37 Chromosome 19, 41916550: 41916550
21 BCKDHA NM_000709.3(BCKDHA): c.1234G> A (p.Val412Met) single nucleotide variant Pathogenic rs398123490 GRCh37 Chromosome 19, 41930409: 41930409
22 BCKDHA NM_000709.3(BCKDHA): c.1302C> A (p.Tyr434Ter) single nucleotide variant Pathogenic rs398123491 GRCh37 Chromosome 19, 41930477: 41930477
23 BCKDHA NM_000709.3(BCKDHA): c.1310_1311delAC (p.His437Leufs) deletion Pathogenic rs398123492 GRCh37 Chromosome 19, 41930485: 41930486
24 BCKDHA NM_000709.3(BCKDHA): c.1314C> A (p.Tyr438Ter) single nucleotide variant Pathogenic rs398123493 GRCh37 Chromosome 19, 41930489: 41930489
25 BCKDHA NM_000709.3(BCKDHA): c.14delT (p.Ile5Thrfs) deletion Pathogenic rs398123494 GRCh37 Chromosome 19, 41903746: 41903746
26 BCKDHA NM_000709.3(BCKDHA): c.288+1G> A single nucleotide variant Pathogenic rs398123496 GRCh37 Chromosome 19, 41916722: 41916722
27 BCKDHA NM_000709.3(BCKDHA): c.288+9C> T single nucleotide variant Pathogenic rs398123497 GRCh37 Chromosome 19, 41916730: 41916730
28 BCKDHA NM_000709.3(BCKDHA): c.370C> T (p.Arg124Trp) single nucleotide variant Likely pathogenic rs398123499 GRCh37 Chromosome 19, 41916909: 41916909
29 BCKDHA NM_000709.3(BCKDHA): c.632C> T (p.Thr211Met) single nucleotide variant Pathogenic rs398123503 GRCh37 Chromosome 19, 41925187: 41925187
30 BCKDHA NM_000709.3(BCKDHA): c.659C> T (p.Ala220Val) single nucleotide variant Pathogenic rs375785084 GRCh37 Chromosome 19, 41928081: 41928081
31 BCKDHA NM_000709.3(BCKDHA): c.741dupT (p.Ala248Cysfs) duplication Pathogenic rs398123504 GRCh37 Chromosome 19, 41928163: 41928163
32 BCKDHA NM_000709.3(BCKDHA): c.761C> A (p.Ala254Asp) single nucleotide variant Pathogenic rs373713279 GRCh37 Chromosome 19, 41928183: 41928183
33 BCKDHA NM_000709.3(BCKDHA): c.853G> C (p.Ala285Pro) single nucleotide variant Pathogenic rs398123508 GRCh37 Chromosome 19, 41928275: 41928275
34 BCKDHA NM_000709.3(BCKDHA): c.905A> C (p.Asp302Ala) single nucleotide variant Pathogenic rs398123509 GRCh37 Chromosome 19, 41928585: 41928585
35 BCKDHA NM_000709.3(BCKDHA): c.909_910delGT (p.Phe304Cysfs) deletion Pathogenic rs398123510 GRCh37 Chromosome 19, 41928589: 41928590
36 BCKDHA NM_000709.3(BCKDHA): c.917delT (p.Val306Aspfs) deletion Pathogenic rs398123512 GRCh37 Chromosome 19, 41928597: 41928597
37 BCKDHA NM_000709.3(BCKDHA): c.964C> T (p.Gln322Ter) single nucleotide variant Pathogenic rs398123513 GRCh37 Chromosome 19, 41928644: 41928644
38 BCKDHA NM_000709.3(BCKDHA): c.979G> A (p.Glu327Lys) single nucleotide variant Pathogenic/Likely pathogenic rs398123515 GRCh37 Chromosome 19, 41928659: 41928659
39 DBT NM_001918.3(DBT): c.1291C> T (p.Arg431Ter) single nucleotide variant Pathogenic rs398123660 GRCh37 Chromosome 1, 100661969: 100661969
40 DBT NM_001918.3(DBT): c.1447T> C (p.Ter483Arg) single nucleotide variant Likely pathogenic rs398123663 GRCh37 Chromosome 1, 100661813: 100661813
41 DBT NM_001918.3(DBT): c.251G> A (p.Trp84Ter) single nucleotide variant Pathogenic rs398123665 GRCh37 Chromosome 1, 100700992: 100700992
42 DBT NM_001918.3(DBT): c.272_275delCAGT (p.Thr91Serfs) deletion Pathogenic rs398123666 GRCh37 Chromosome 1, 100696447: 100696450
43 DBT NM_001918.3(DBT): c.339_345delTTATGAT (p.Tyr114Glufs) deletion Pathogenic rs398123667 GRCh37 Chromosome 1, 100696377: 100696383
44 DBT NM_001918.3(DBT): c.360delA (p.Lys120Asnfs) deletion Pathogenic rs398123668 GRCh37 Chromosome 1, 100696362: 100696362
45 DBT NM_001918.3(DBT): c.51+1G> T single nucleotide variant Pathogenic rs398123669 GRCh37 Chromosome 1, 100715325: 100715325
46 DBT NM_001918.3(DBT): c.670G> T (p.Glu224Ter) single nucleotide variant Pathogenic/Likely pathogenic rs74103423 GRCh37 Chromosome 1, 100681641: 100681641
47 DBT NM_001918.3(DBT): c.773-2A> G single nucleotide variant Pathogenic rs398123674 GRCh37 Chromosome 1, 100680541: 100680541
48 DBT NM_001918.3(DBT): c.871C> T (p.Arg291Ter) single nucleotide variant Pathogenic rs398123675 GRCh37 Chromosome 1, 100680441: 100680441
49 DBT NM_001918.3(DBT): c.901C> T (p.Arg301Cys) single nucleotide variant Pathogenic/Likely pathogenic rs185492864 GRCh37 Chromosome 1, 100680411: 100680411
50 DBT NM_001918.3(DBT): c.939G> C (p.Lys313Asn) single nucleotide variant Pathogenic rs398123676 GRCh37 Chromosome 1, 100680373: 100680373

Expression for Maple Syrup Urine Disease, Type Ii

Search GEO for disease gene expression data for Maple Syrup Urine Disease, Type Ii.

Pathways for Maple Syrup Urine Disease, Type Ii

Pathways related to Maple Syrup Urine Disease, Type Ii according to GeneCards Suite gene sharing:

(show all 16)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 ACADM ACADVL BCAT1 BCAT2 BCKDHA BCKDHB
2
Show member pathways
13.58 BCAT1 BCAT2 BCKDHA BCKDHB BCKDK DBT
3
Show member pathways
12.12 ACADM BCAT1 BCAT2 DLD HADHA OTC
4 11.94 ACADM HADHA PAH
5 11.76 ACADM BCAT1 DLD HMGCL OTC
6
Show member pathways
11.66 ACADM ACADVL HADHA
7
Show member pathways
11.49 ACADM ACADVL HADHA
8
Show member pathways
11.48 ACADM ACADVL DLD HADHA
9
Show member pathways
11.44 ACADM BCAT1 BCAT2 BCKDHA BCKDHB BCKDK
10
Show member pathways
11.35 BCKDHA BCKDHB DBT DLD
11
Show member pathways
11.09 ACADM HADHA
12
Show member pathways
11.08 BCKDHA BCKDHB DBT DLD
13 10.94 ACADM BCKDHA BCKDHB DBT DLD HADHA
14 10.79 BCAT1 BCAT2
15
Show member pathways
10.51 ACADM HADHA
16
Show member pathways
10.46 BCKDHA BCKDHB DBT DLD

GO Terms for Maple Syrup Urine Disease, Type Ii

Cellular components related to Maple Syrup Urine Disease, Type Ii according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.8 ACADM ACADVL BCAT1 BCAT2 BCKDHA BCKDHB
2 mitochondrial inner membrane GO:0005743 9.72 ACADVL HADHA HMGCL NIPSNAP1 OTC
3 mitochondrial alpha-ketoglutarate dehydrogenase complex GO:0005947 9.46 BCKDHA BCKDHB BCKDK DBT
4 mitochondrial nucleoid GO:0042645 9.43 ACADVL DBT HADHA
5 mitochondrial matrix GO:0005759 9.4 ACADM ACADVL BCAT2 BCKDHA BCKDHB BCKDK

Biological processes related to Maple Syrup Urine Disease, Type Ii according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.91 ACADM ACADVL BCKDHA BCKDHB DLD HADHA
2 fatty acid metabolic process GO:0006631 9.7 ACADM ACADVL HADHA
3 fatty acid beta-oxidation GO:0006635 9.67 ACADM ACADVL HADHA
4 cellular amino acid biosynthetic process GO:0008652 9.62 BCAT1 BCAT2 OTC PAH
5 metabolic process GO:0008152 9.61 ACADM ACADVL BCAT1 BCAT2 BCKDHA BCKDHB
6 glyoxylate metabolic process GO:0046487 9.56 BCKDHA BCKDHB DBT DLD
7 response to starvation GO:0042594 9.54 ACADM HMGCL
8 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.51 ACADM ACADVL
9 leucine biosynthetic process GO:0009098 9.48 BCAT1 BCAT2
10 branched-chain amino acid biosynthetic process GO:0009082 9.46 BCAT1 BCAT2
11 cellular nitrogen compound metabolic process GO:0034641 9.46 BCKDHA BCKDHB DBT DLD
12 valine biosynthetic process GO:0009099 9.43 BCAT1 BCAT2
13 branched-chain amino acid metabolic process GO:0009081 9.4 BCAT1 BCAT2
14 branched-chain amino acid catabolic process GO:0009083 9.23 BCAT1 BCAT2 BCKDHA BCKDHB BCKDK DBT

Molecular functions related to Maple Syrup Urine Disease, Type Ii according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 flavin adenine dinucleotide binding GO:0050660 9.61 ACADM ACADVL DLD
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.54 ACADM ACADVL
3 carboxy-lyase activity GO:0016831 9.52 BCKDHA BCKDHB
4 transaminase activity GO:0008483 9.51 BCAT1 BCAT2
5 amino acid binding GO:0016597 9.49 OTC PAH
6 fatty-acyl-CoA binding GO:0000062 9.48 HADHA HMGCL
7 acyl-CoA dehydrogenase activity GO:0003995 9.46 ACADM ACADVL
8 L-leucine transaminase activity GO:0052654 9.4 BCAT1 BCAT2
9 L-valine transaminase activity GO:0052655 9.37 BCAT1 BCAT2
10 L-isoleucine transaminase activity GO:0052656 9.32 BCAT1 BCAT2
11 branched-chain-amino-acid transaminase activity GO:0004084 9.26 BCAT1 BCAT2
12 oxidoreductase activity GO:0016491 9.17 ACADM ACADVL BCKDHA BCKDHB DLD HADHA
13 alpha-ketoacid dehydrogenase activity GO:0003826 9.16 BCKDHA BCKDHB
14 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity GO:0003863 8.96 BCKDHA BCKDHB

Sources for Maple Syrup Urine Disease, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....