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

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Maple Syrup Urine Disease, Type Ii 52 12 68
Maple Syrup Urine Disease 52 11 23 48 24 25 54 70 27 50 39 13 68
Bckd Deficiency 23 48 24 25 54 70
Msud 23 48 24 25 54 70
Branched-Chain Ketoaciduria 23 24 25 54 70
Classic Maple Syrup Urine Disease 54 70 27 68
Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency 48 25 70
Intermittent Maple Syrup Urine Disease 54 70 68
Branched-Chain Ketoacid Dehydrogenase Deficiency 23 24
Thiamine-Responsive Maple Syrup Urine Disease 54 70
Intermediate Maple Syrup Urine Disease 70 68
Maple Syrup Urine Disease, Type Ia 52 68
Keto Acid Decarboxylase Deficiency 48 70
Maple Syrup Urine Disease Type 1b 48 24
Maple Syrup Urine Disease Type 1a 48 24
Maple Syrup Urine Disease Type Ii 70 27
Maple Syrup Urine Disease Type Ib 70 27
Maple Syrup Urine Disease Type Ia 70 27
Maple Syrup Urine Disease Type 2 48 24
Branched Chain Ketoaciduria 11 48
Maple Syrup Disease 23 24
Msud Type Ib 48 70
Msud2 48 70
Msud Due to Deficiency of E1-Beta Subunit of Branched-Chain Alpha-Keto Acid Dehydrogenase Complex 48
Thiamine-Responsive Branched-Chain 2-Ketoacid Dehydrogenase Deficiency 54
Intermittent Branched-Chain 2-Ketoacid Dehydrogenase Deficiency 54
Lactic Acidosis, Congenital Infantile, Due to Lad Deficiency 68
 
Classic Branched-Chain 2-Ketoacid Dehydrogenase Deficiency 54
Branched-Chain 2-Ketoacid Dehydrogenase Deficiency 54
Dihydrolipoamide Dehydrogenase Deficiency 11
Nadh Cytochrome B5 Reductase Deficiency 68
Classic Branched-Chain Ketoaciduria 54
Thiamine-Responsive Bckd Deficiency 54
Maple Syrup Urine Disease, Type 1b 68
Maple Syrup Urine Disease, Type Ib 52
Intermittent Bckd Deficiency 54
Maple Syrup Urine Disease 1a 70
Maple Syrup Urine Disease 1b 70
Maple Syrup Urine Disease 2 70
Thiamine-Responsive Msud 54
Classic Bckd Deficiency 54
Intermittent Msud 54
Bckdh Deficiency 54
Ketoacidaemia 11
Ketoacidemia 25
Classic Msud 54
Msud Type Ia 70
Msud Type 1a 48
Msud Type Ii 70
Msud Type 2 48
Ketonemia 68
Msud1b 70
Msud1a 70

Characteristics:

Orphanet epidemiological data:

54
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:

64
maple syrup urine disease, type ii:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 248600
Disease Ontology11 DOID:9269
ICD1030 E71.0
MeSH39 D008375
NCIt45 C34806
SNOMED-CT62 27718001
ICD10 via Orphanet31 E71.0
MESH via Orphanet40 D008375
UMLS via Orphanet69 C0024776, C0268576, C0268568 C0268569, more

Summaries for Maple Syrup Urine Disease, Type Ii

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UniProtKB/Swiss-Prot:70 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, ataxia and lethargy. 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 are Pantothenate and CoA biosynthesis and Beta oxidation of octanoyl-CoA to hexanoyl-CoA. Related mouse phenotypes are integument and liver/biliary system.

Disease Ontology:11 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:48 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:52 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 for NBK1319

Related Diseases for Maple Syrup Urine Disease, Type Ii

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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)
idRelated DiseaseScoreTop Affiliating Genes
1maple syrup urine disease, mild variant33.7ACADM, ACADVL, HADHA
2intermediate maple syrup urine disease12.6
3dihydrolipoamide dehydrogenase deficiency12.6
4myosclerosis, congenital10.2HMGCL, OTC
5isolated trigonocephaly10.1BCKDHA, BCKDHB, DBT, PPM1K
6ifitm5-related osteogenesis imperfecta10.1BCAT1, BCAT2
7encephalopathy10.0
8muscular dystrophy, limb-girdle, type ic10.0ACADM, BTD
9hyperekplexia 2, autosomal recessive10.0ACADM, HMGCL, OTC
10hermansky-pudlak syndrome 910.0ACADM, HMGCL
11lactic acidosis10.0
12pain disorder10.0ACADM, BCKDHB, BTD, HMGCL
13waldenstrom macroglobulinemia9.9ACADVL, OTC
14cystinosis, ocular nonnephropathic9.9ACADVL, HADHA, HMGCL
15malignant cardiac peripheral nerve sheath neoplasm9.9ACADM, HADHA, HMGCL, OTC
16gum cancer9.9ACADM, BTD
17acute liver failure9.9
18myopathy9.9
192-methylacetoacetyl coa thiolase deficiency9.9
20vitamin metabolic disorder9.8ACADM, ACADVL, HMGCL
21borderline glaucoma9.8ACADM, BCKDHB, MMD, PAH
22fibular hypoplasia9.8ACADM, ACADVL, HADHA
23atrial fibrillation, familial, 49.8ACADM, ACADVL, BTD
24leopard syndrome 19.7ACADM, BTD, HADHA, NIPSNAP1, PAH
25acute insulin response9.7ACADM, ACADVL, BTD, HADHA
26retinitis pigmentosa 4, autosomal dominant or recessive9.7ACADM, ACADVL, HMGCL, OTC
27obesity, morbid, due to leptin receptor deficiency8.0ACADM, 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

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Symptoms by clinical synopsis from OMIM:

248600

Clinical features from OMIM:

248600

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

 54 64 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the pharynx64 54 Very frequent (99-80%) HP:0000600
2 intellectual disability64 54 Very frequent (99-80%) HP:0001249
3 seizures64 54 Very frequent (99-80%) HP:0001250
4 ataxia64 54 Frequent (79-30%) HP:0001251
5 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
6 global developmental delay64 54 Very frequent (99-80%) HP:0001263
7 reduced tendon reflexes64 54 Very frequent (99-80%) HP:0001315
8 abnormality of the voice64 54 Very frequent (99-80%) HP:0001608
9 respiratory insufficiency64 54 Very frequent (99-80%) HP:0002093
10 hemiplegia/hemiparesis64 54 Frequent (79-30%) HP:0004374
11 elevated plasma branched chain amino acids64 54 Very frequent (99-80%) HP:0008344
12 hallucinations64 HP:0000738
13 lethargy64 HP:0001254
14 coma64 HP:0001259
15 hypertonia64 HP:0001276
16 growth abnormality64 HP:0001507
17 pancreatitis64 HP:0001733
18 hypoglycemia64 HP:0001943
19 ketosis64 HP:0001946
20 vomiting64 HP:0002013
21 cerebral edema64 HP:0002181
22 lactic acidosis64 HP:0003128
23 feeding difficulties in infancy64 HP:0008872

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 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.9BCAT2, BCKDK, BTD, DBT, NIPSNAP1, OTC
2MP:00053708.5ACADM, ACADVL, BCKDK, HADHA, HMGCL, OTC
3MP:00053678.3BCAT2, BCKDK, BTD, DBT, HADHA, OTC
4MP:00053867.9ACADVL, BCAT2, BCKDK, BTD, DBT, HMGCL
5MP:00053766.7ACADM, ACADVL, BCAT2, BCKDK, BTD, DBT

Drugs & Therapeutics for Maple Syrup Urine Disease, Type Ii

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
14-phenylbutyric acidPhase 2, Phase 348

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phenylbutyrate Therapy for Maple Syrup Urine DiseaseActive, not recruitingNCT01529060Phase 2, Phase 3
2Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With PhenylketonuriaCompletedNCT01659749

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

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

id Genetic test Affiliating Genes
1 Maple Syrup Urine Disease Type 1a27 24 BCKDHA
2 Maple Syrup Urine Disease27 24
3 Maple Syrup Urine Disease Type 1b27 24 BCKDHB
4 Maple Syrup Urine Disease Type 227 24 DBT
5 Classical Maple Syrup Urine Disease27

Anatomical Context for Maple Syrup Urine Disease, Type Ii

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Publications for Maple Syrup Urine Disease, Type Ii

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Variations for Maple Syrup Urine Disease, Type Ii

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

70 (show all 19)
id Symbol AA change Variation ID SNP ID
1BCKDHAp.Arg159TrpVAR_004968rs769688327
2BCKDHAp.Gln190LysVAR_004969
3BCKDHAp.Ala253ThrVAR_004970rs199599175
4BCKDHAp.Ile326ThrVAR_004971
5BCKDHAp.Tyr413CysVAR_004972
6BCKDHAp.Tyr438AsnVAR_004973rs137852870
7BCKDHAp.Gly290ArgVAR_015101rs137852871
8BCKDHAp.Phe409CysVAR_015102rs137852872
9BCKDHAp.Thr211MetVAR_069748rs398123503
10BCKDHAp.Ala220ValVAR_069749rs375785084
11BCKDHAp.Arg346CysVAR_069750rs182923857
12BCKDHBp.His206ArgVAR_004974
13BCKDHBp.Arg183ProVAR_024851rs28934895
14BCKDHBp.Gly278SerVAR_024852rs386834233
15BCKDHBp.Arg170HisVAR_068348rs371518124
16BCKDHBp.Gln346ArgVAR_068349
17DBTp.Phe276CysVAR_004978
18DBTp.Ile98MetVAR_015099
19DBTp.Gly384SerVAR_015100rs12021720

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

5 (show all 102)
id Gene Variation Type Significance SNP ID Assembly Location
1BCKDHANM_ 000709.3(BCKDHA): c.1312T> A (p.Tyr438Asn)SNVPathogenicrs137852870GRCh37Chr 19, 41930487: 41930487
2BCKDHBNM_ 183050.3(BCKDHB): c.548G> C (p.Arg183Pro)SNVPathogenic/ Likely pathogenicrs79761867GRCh37Chr 6, 80878662: 80878662
3DBTNM_ 001918.3(DBT): c.827T> G (p.Phe276Cys)SNVPathogenicrs121964999GRCh37Chr 1, 100680485: 100680485
4DBTNM_ 001918.3(DBT): c.434-15_ 434-4delTTACCTTGTTACdeletionPathogenicrs727503895GRCh37Chr 1, 100684307: 100684318
5BCKDHBNM_ 000056.4(BCKDHB): c.93_ 103dupGGCGCGGGGCT (p.Phe35Trpfs)duplicationLikely pathogenicrs786204699GRCh37Chr 6, 80816503: 80816513
6DBTNM_ 001918.3(DBT): c.126T> G (p.Tyr42Ter)SNVPathogenicrs794727262GRCh37Chr 1, 100706366: 100706366
7DBTNM_ 001918.3(DBT): c.433+1G> TSNVPathogenicrs794727635GRCh37Chr 1, 100696288: 100696288
8BCKDHANM_ 000709.3(BCKDHA): c.861_ 868delAGGCCCCG (p.Gly288Valfs)deletionPathogenicrs794727847GRCh37Chr 19, 41928541: 41928548
9BCKDHANM_ 000709.3(BCKDHA): c.661_ 664delTACG (p.Tyr221Glnfs)deletionPathogenic/ Likely pathogenicrs796051938GRCh38Chr 19, 41422178: 41422181
10BCKDHBNM_ 183050.3(BCKDHB): c.1022T> A (p.Ile341Asn)SNVPathogenic/ Likely pathogenicrs796051939GRCh37Chr 6, 80982922: 80982922
11BCKDHANM_ 000709.3(BCKDHA): c.844G> C (p.Asp282His)SNVPathogenicrs869312124GRCh38Chr 19, 41422361: 41422361
12BCKDHANM_ 000709.3(BCKDHA): c.476G> A (p.Arg159Gln)SNVPathogenicrs773048903GRCh38Chr 19, 41414149: 41414149
13BCKDHANM_ 000709.3(BCKDHA): c.1198A> T (p.Lys400Ter)SNVPathogenicrs863225262GRCh38Chr 19, 41424468: 41424468
14BCKDHANM_ 000709.3(BCKDHA): c.470A> C (p.Gln157Pro)SNVPathogenicrs869312125GRCh38Chr 19, 41414143: 41414143
15BCKDHBNM_ 183050.3(BCKDHB): c.293T> G (p.Val98Gly)SNVPathogenicrs869312126GRCh37Chr 6, 80838896: 80838896
16BCKDHBNM_ 183050.3(BCKDHB): c.554C> T (p.Pro185Leu)SNVPathogenicrs148905512GRCh37Chr 6, 80878668: 80878668
17BCKDHBNM_ 183050.3(BCKDHB): c.197-2A> GSNVPathogenicrs869312127GRCh37Chr 6, 80837262: 80837262
18BCKDHBNM_ 183050.3(BCKDHB): c.3G> A (p.Met1Ile)SNVPathogenicrs869312128GRCh37Chr 6, 80816413: 80816413
19BCKDHBNM_ 000056.4(BCKDHB): c.-67_ 196del263deletionPathogenicGRCh38Chr 6, 80106627: 80106889
20BCKDHBNM_ 183050.3(BCKDHB): c.1065delT (p.Pro356Leufs)deletionPathogenicrs869312129GRCh37Chr 6, 81053407: 81053407
21BCKDHBNM_ 183050.3(BCKDHB): c.401T> A (p.Ile134Asn)SNVPathogenicrs869312130GRCh37Chr 6, 80877452: 80877452
22BCKDHBNM_ 183050.3(BCKDHB): c.964A> G (p.Thr322Ala)SNVPathogenicrs869312131GRCh37Chr 6, 80982864: 80982864
23BCKDHANM_ 000709.3(BCKDHA): c.940C> T (p.Arg314Ter)SNVPathogenicrs753698250GRCh37Chr 19, 41928620: 41928620
24DBTNM_ 001918.3(DBT): c.1033G> A (p.Gly345Arg)SNVPathogenicrs869312132GRCh37Chr 1, 100672177: 100672177
25BCKDHANM_ 000709.3(BCKDHA): c.868G> A (p.Gly290Arg)SNVPathogenicrs137852871GRCh37Chr 19, 41928548: 41928548
26BCKDHANM_ 000709.3(BCKDHA): c.929C> G (p.Thr310Arg)SNVPathogenicrs137852875GRCh37Chr 19, 41928609: 41928609
27BCKDHBNM_ 000056.4(BCKDHB): c.290A> T (p.Asp97Val)SNVLikely pathogenicrs886043103GRCh37Chr 6, 80838893: 80838893
28BCKDHBNM_ 183050.3(BCKDHB): c.840+1G> TSNVLikely pathogenicrs760538465GRCh38Chr 6, 80201032: 80201032
29BCKDHBNM_ 183050.3(BCKDHB): c.840+1G> ASNVLikely pathogenicrs760538465GRCh37Chr 6, 80910749: 80910749
30BCKDHBNM_ 183050.3(BCKDHB): c.730delT (p.Tyr244Thrfs)deletionLikely pathogenicrs1057516572GRCh37Chr 6, 80881095: 80881095
31BCKDHANM_ 000709.3(BCKDHA): c.137C> A (p.Ser46Ter)SNVLikely pathogenicrs376456598GRCh37Chr 19, 41916570: 41916570
32BCKDHBNM_ 183050.3(BCKDHB): c.97delC (p.Arg33Glyfs)deletionLikely pathogenicrs1057516731GRCh37Chr 6, 80816507: 80816507
33DBTNM_ 001918.3(DBT): c.725C> G (p.Ser242Ter)SNVLikely pathogenicrs201559874GRCh37Chr 1, 100681586: 100681586
34BCKDHBNM_ 183050.3(BCKDHB): c.18_ 27delGGCTGCCGGC (p.Ala7Glyfs)deletionLikely pathogenicrs1057516781GRCh38Chr 6, 80106711: 80106720
35BCKDHBNM_ 183050.3(BCKDHB): c.79_ 89delCCTGGCGCGGG (p.Pro27Alafs)deletionLikely pathogenicrs1057516795GRCh37Chr 6, 80816489: 80816499
36BCKDHBNM_ 183050.3(BCKDHB): c.487G> T (p.Glu163Ter)SNVPathogenicrs1057516799GRCh38Chr 6, 80168884: 80168884
37BCKDHBNM_ 183050.3(BCKDHB): c.410C> T (p.Ala137Val)SNVLikely pathogenicrs776631396GRCh37Chr 6, 80877461: 80877461
38BCKDHBNM_ 183050.3(BCKDHB): c.853delC (p.Arg285Glufs)deletionLikely pathogenicrs1057517124GRCh38Chr 6, 80203114: 80203114
39BCKDHBNM_ 183050.3(BCKDHB): c.139_ 149delCAGAGGCGGCA (p.Gln47Glyfs)deletionLikely pathogenicrs1057517414GRCh38Chr 6, 80106832: 80106842
40BCKDHANM_ 000709.3(BCKDHA): c.399delCinsAA (p.Asn134Lysfs)indelPathogenicrs1057519059GRCh38Chr 19, 41414072: 41414072
41BCKDHBNM_ 183050.3(BCKDHB): c.365C> A (p.Thr122Asn)SNVLikely pathogenicrs398124575GRCh38Chr 6, 80167699: 80167699
42BCKDHBNM_ 183050.3(BCKDHB): c.1090G> A (p.Asp364Asn)SNVLikely pathogenicrs1060499715GRCh37Chr 6, 81053432: 81053432
43BCKDHBNM_ 183050.3(BCKDHB): c.1114G> T (p.Glu372Ter)SNVPathogenic/ Likely pathogenicrs386834234GRCh37Chr 6, 81053456: 81053456
44BCKDHBNM_ 183050.3(BCKDHB): c.832G> A (p.Gly278Ser)SNVPathogenicrs386834233GRCh37Chr 6, 80910740: 80910740
45BCKDHANM_ 000709.3(BCKDHA): c.1036C> T (p.Arg346Cys)SNVPathogenicrs182923857GRCh37Chr 19, 41928943: 41928943
46BCKDHANM_ 000709.3(BCKDHA): c.117delC (p.Arg40Glyfs)deletionPathogenicrs398123489GRCh37Chr 19, 41916550: 41916550
47BCKDHANM_ 000709.3(BCKDHA): c.1234G> A (p.Val412Met)SNVPathogenicrs398123490GRCh37Chr 19, 41930409: 41930409
48BCKDHANM_ 000709.3(BCKDHA): c.1302C> A (p.Tyr434Ter)SNVPathogenicrs398123491GRCh37Chr 19, 41930477: 41930477
49BCKDHANM_ 000709.3(BCKDHA): c.1310_ 1311delAC (p.His437Leufs)deletionPathogenicrs398123492GRCh37Chr 19, 41930485: 41930486
50BCKDHANM_ 000709.3(BCKDHA): c.1314C> A (p.Tyr438Ter)SNVPathogenicrs398123493GRCh37Chr 19, 41930489: 41930489
51BCKDHANM_ 000709.3(BCKDHA): c.14delT (p.Ile5Thrfs)deletionPathogenicrs398123494GRCh37Chr 19, 41903746: 41903746
52BCKDHANM_ 000709.3(BCKDHA): c.288+1G> ASNVPathogenicrs398123496GRCh37Chr 19, 41916722: 41916722
53BCKDHANM_ 000709.3(BCKDHA): c.288+9C> TSNVPathogenicrs398123497GRCh37Chr 19, 41916730: 41916730
54BCKDHANM_ 000709.3(BCKDHA): c.370C> T (p.Arg124Trp)SNVLikely pathogenicrs398123499GRCh37Chr 19, 41916909: 41916909
55BCKDHANM_ 000709.3(BCKDHA): c.632C> T (p.Thr211Met)SNVPathogenicrs398123503GRCh37Chr 19, 41925187: 41925187
56BCKDHANM_ 000709.3(BCKDHA): c.659C> T (p.Ala220Val)SNVPathogenicrs375785084GRCh37Chr 19, 41928081: 41928081
57BCKDHANM_ 000709.3(BCKDHA): c.741dupT (p.Ala248Cysfs)duplicationPathogenicrs398123504GRCh37Chr 19, 41928163: 41928163
58BCKDHANM_ 000709.3(BCKDHA): c.761C> A (p.Ala254Asp)SNVPathogenicrs373713279GRCh37Chr 19, 41928183: 41928183
59BCKDHANM_ 000709.3(BCKDHA): c.853G> C (p.Ala285Pro)SNVPathogenicrs398123508GRCh37Chr 19, 41928275: 41928275
60BCKDHANM_ 000709.3(BCKDHA): c.905A> C (p.Asp302Ala)SNVPathogenicrs398123509GRCh37Chr 19, 41928585: 41928585
61BCKDHANM_ 000709.3(BCKDHA): c.909_ 910delGT (p.Phe304Cysfs)deletionPathogenicrs398123510GRCh37Chr 19, 41928589: 41928590
62BCKDHANM_ 000709.3(BCKDHA): c.917delT (p.Val306Aspfs)deletionPathogenicrs398123512GRCh37Chr 19, 41928597: 41928597
63BCKDHANM_ 000709.3(BCKDHA): c.964C> T (p.Gln322Ter)SNVPathogenicrs398123513GRCh37Chr 19, 41928644: 41928644
64BCKDHANM_ 000709.3(BCKDHA): c.979G> A (p.Glu327Lys)SNVPathogenic/ Likely pathogenicrs398123515GRCh37Chr 19, 41928659: 41928659
65DBTNM_ 001918.3(DBT): c.1291C> T (p.Arg431Ter)SNVPathogenicrs398123660GRCh37Chr 1, 100661969: 100661969
66DBTNM_ 001918.3(DBT): c.1447T> C (p.Ter483Arg)SNVLikely pathogenicrs398123663GRCh37Chr 1, 100661813: 100661813
67DBTNM_ 001918.3(DBT): c.251G> A (p.Trp84Ter)SNVPathogenicrs398123665GRCh37Chr 1, 100700992: 100700992
68DBTNM_ 001918.3(DBT): c.272_ 275delCAGT (p.Thr91Serfs)deletionPathogenicrs398123666GRCh37Chr 1, 100696447: 100696450
69DBTNM_ 001918.3(DBT): c.339_ 345delTTATGAT (p.Tyr114Glufs)deletionPathogenicrs398123667GRCh37Chr 1, 100696377: 100696383
70DBTNM_ 001918.3(DBT): c.360delA (p.Lys120Asnfs)deletionPathogenicrs398123668GRCh37Chr 1, 100696362: 100696362
71DBTNM_ 001918.3(DBT): c.51+1G> TSNVPathogenicrs398123669GRCh37Chr 1, 100715325: 100715325
72DBTNM_ 001918.3(DBT): c.670G> T (p.Glu224Ter)SNVPathogenic/ Likely pathogenicrs74103423GRCh37Chr 1, 100681641: 100681641
73DBTNM_ 001918.3(DBT): c.773-2A> GSNVPathogenicrs398123674GRCh37Chr 1, 100680541: 100680541
74DBTNM_ 001918.3(DBT): c.871C> T (p.Arg291Ter)SNVPathogenicrs398123675GRCh37Chr 1, 100680441: 100680441
75DBTNM_ 001918.3(DBT): c.901C> T (p.Arg301Cys)SNVPathogenic/ Likely pathogenicrs185492864GRCh37Chr 1, 100680411: 100680411
76DBTNM_ 001918.3(DBT): c.939G> C (p.Lys313Asn)SNVPathogenicrs398123676GRCh37Chr 1, 100680373: 100680373
77BCKDHBNM_ 000056.4(BCKDHB): c.1016C> T (p.Ser339Leu)SNVPathogenicrs398124561GRCh37Chr 6, 80982916: 80982916
78BCKDHBNM_ 000056.4(BCKDHB): c.1046G> A (p.Cys349Tyr)SNVLikely pathogenicrs398124562GRCh37Chr 6, 81053388: 81053388
79BCKDHBNM_ 000056.4(BCKDHB): c.302G> A (p.Gly101Asp)SNVLikely pathogenicrs398124571GRCh37Chr 6, 80838905: 80838905
80BCKDHBNM_ 000056.4(BCKDHB): c.33_ 34delAC (p.Leu12Glnfs)deletionPathogenicrs398124572GRCh37Chr 6, 80816443: 80816444
81BCKDHBNM_ 183050.3(BCKDHB): c.342T> G (p.Tyr114Ter)SNVPathogenic/ Likely pathogenicrs398124573GRCh37Chr 6, 80838945: 80838945
82BCKDHBNM_ 000056.4(BCKDHB): c.344-1G> ASNVPathogenicrs398124574GRCh37Chr 6, 80877394: 80877394
83BCKDHBNM_ 000056.4(BCKDHB): c.479T> G (p.Ile160Ser)SNVLikely pathogenicrs398124576GRCh37Chr 6, 80878593: 80878593
84BCKDHBNM_ 000056.4(BCKDHB): c.488A> T (p.Glu163Val)SNVPathogenicrs398124577GRCh37Chr 6, 80878602: 80878602
85BCKDHBNM_ 000056.4(BCKDHB): c.508C> A (p.Arg170Ser)SNVLikely pathogenicrs398124581GRCh37Chr 6, 80878622: 80878622
86BCKDHBNM_ 000056.4(BCKDHB): c.508C> G (p.Arg170Gly)SNVLikely pathogenicrs398124581GRCh37Chr 6, 80878622: 80878622
87BCKDHBNM_ 000056.4(BCKDHB): c.508C> T (p.Arg170Cys)SNVLikely pathogenicrs398124581GRCh37Chr 6, 80878622: 80878622
88BCKDHBNM_ 183050.3(BCKDHB): c.509G> A (p.Arg170His)SNVPathogenic/ Likely pathogenicrs371518124GRCh37Chr 6, 80878623: 80878623
89BCKDHBNM_ 000056.4(BCKDHB): c.526A> T (p.Asn176Tyr)SNVPathogenicrs398124582GRCh37Chr 6, 80878640: 80878640
90BCKDHBNM_ 000056.4(BCKDHB): c.547C> T (p.Arg183Trp)SNVLikely pathogenicrs149766077GRCh37Chr 6, 80878661: 80878661
91BCKDHBNM_ 000056.4(BCKDHB): c.592_ 593delCA (p.Gln198Glufs)deletionPathogenicrs398124586GRCh37Chr 6, 80878706: 80878707
92BCKDHBNM_ 000056.4(BCKDHB): c.595_ 596delAG (p.Pro200Terfs)deletionPathogenicrs398124587GRCh37Chr 6, 80878709: 80878710
93BCKDHBNM_ 000056.4(BCKDHB): c.633+1G> ASNVPathogenicrs398124589GRCh37Chr 6, 80878748: 80878748
94BCKDHBNM_ 000056.4(BCKDHB): c.748G> T (p.Glu250Ter)SNVPathogenicrs398124592GRCh37Chr 6, 80910656: 80910656
95BCKDHBNM_ 000056.4(BCKDHB): c.752T> C (p.Val251Ala)SNVPathogenicrs398124593GRCh37Chr 6, 80910660: 80910660
96BCKDHBNM_ 183050.3(BCKDHB): c.799C> T (p.Gln267Ter)SNVPathogenic/ Likely pathogenicrs398124594GRCh37Chr 6, 80910707: 80910707
97BCKDHBNM_ 183050.3(BCKDHB): c.840+2T> GSNVPathogenic/ Likely pathogenicrs398124596GRCh37Chr 6, 80910750: 80910750
98BCKDHBNM_ 183050.3(BCKDHB): c.853C> T (p.Arg285Ter)SNVPathogenic/ Likely pathogenicrs398124598GRCh37Chr 6, 80912831: 80912831
99BCKDHBNM_ 000056.4(BCKDHB): c.902T> G (p.Val301Gly)SNVLikely pathogenicrs398124600GRCh37Chr 6, 80912880: 80912880
100BCKDHBNM_ 000056.4(BCKDHB): c.93_ 103delGGCGCGGGGCT (p.Ala32Phefs)deletionPathogenicrs398124601GRCh37Chr 6, 80816503: 80816513
101BCKDHBNM_ 000056.4(BCKDHB): c.952-1G> ASNVPathogenicrs398124602GRCh37Chr 6, 80982851: 80982851
102BCKDHBNM_ 183050.3(BCKDHB): c.970C> T (p.Arg324Ter)SNVPathogenic/ Likely pathogenicrs398124603GRCh37Chr 6, 80982870: 80982870

Expression for genes affiliated with Maple Syrup Urine Disease, Type Ii

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

Pathways for genes affiliated with Maple Syrup Urine Disease, Type Ii

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

(show all 16)
idSuper pathwaysScoreTop Affiliating Genes
19.6BCAT1, BCAT2
2
Show member pathways
9.6ACADM, HADHA
3
Show member pathways
9.6ACADM, HADHA
4
Show member pathways
9.5BCKDHA, BCKDHB, DBT, DLD
5
Show member pathways
9.5BCKDHA, BCKDHB, DBT, DLD
6
Show member pathways
9.5BCKDHA, BCKDHB, DBT, DLD
79.2ACADM, HADHA, PAH
8
Show member pathways
8.7ACADM, ACADVL, HADHA
9
Show member pathways
8.7ACADM, ACADVL, HADHA
108.6ACADM, BCKDHA, BCKDHB, DBT, DLD, HADHA
118.5ACADM, BCAT1, DLD, HMGCL, OTC
12
Show member pathways
8.4ACADM, ACADVL, DLD, HADHA
13
Show member pathways
7.7ACADM, BCAT1, BCAT2, DLD, HADHA, OTC
14
Show member pathways
7.2BCAT1, BCAT2, BCKDHA, BCKDHB, BCKDK, DBT
15
Show member pathways
6.7ACADM, BCAT1, BCAT2, BCKDHA, BCKDHB, BCKDK
16
Show member pathways
5.0ACADM, ACADVL, BCAT1, BCAT2, BCKDHA, BCKDHB

GO Terms for genes affiliated with Maple Syrup Urine Disease, Type Ii

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial alpha-ketoglutarate dehydrogenase complexGO:000594710.1BCKDHA, BCKDHB, BCKDK, DBT
2mitochondrial nucleoidGO:00426459.9ACADVL, DBT, HADHA
3mitochondrial inner membraneGO:00057439.2ACADVL, HADHA, HMGCL, NIPSNAP1, OTC
4mitochondrial matrixGO:00057596.9ACADM, ACADVL, BCAT2, BCKDHA, BCKDHB, BCKDK
5mitochondrionGO:00057395.2ACADM, ACADVL, BCAT1, BCAT2, BCKDHA, BCKDHB

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1branched-chain amino acid biosynthetic processGO:000908210.4BCAT1, BCAT2
2branched-chain amino acid metabolic processGO:000908110.4BCAT1, BCAT2
3leucine biosynthetic processGO:000909810.3BCAT1, BCAT2
4cellular nitrogen compound metabolic processGO:003464110.2BCKDHA, BCKDHB, DBT, DLD
5glyoxylate metabolic processGO:004648710.2BCKDHA, BCKDHB, DBT, DLD
6fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:00335399.8ACADM, ACADVL
7cellular amino acid biosynthetic processGO:00086529.7BCAT1, BCAT2, OTC, PAH
8valine biosynthetic processGO:00090999.6BCAT1, BCAT2
9response to starvationGO:00425949.5ACADM, HMGCL
10fatty acid beta-oxidationGO:00066359.5ACADM, ACADVL, HADHA
11fatty acid metabolic processGO:00066319.5ACADM, ACADVL, HADHA
12branched-chain amino acid catabolic processGO:00090838.6BCAT1, BCAT2, BCKDHA, BCKDHB, BCKDK, DBT
13oxidation-reduction processGO:00551148.0ACADM, ACADVL, BCKDHA, BCKDHB, DLD, HADHA
14metabolic processGO:00081527.5ACADM, ACADVL, BCAT1, BCAT2, BCKDHA, BCKDHB

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
13-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activityGO:000386310.7BCKDHA, BCKDHB
2alpha-ketoacid dehydrogenase activityGO:000382610.7BCKDHA, BCKDHB
3carboxy-lyase activityGO:001683110.7BCKDHA, BCKDHB
4fatty-acyl-CoA bindingGO:000006210.6HADHA, HMGCL
5amino acid bindingGO:001659710.5OTC, PAH
6branched-chain-amino-acid transaminase activityGO:000408410.3BCAT1, BCAT2
7L-isoleucine transaminase activityGO:005265610.3BCAT1, BCAT2
8L-leucine transaminase activityGO:005265410.3BCAT1, BCAT2
9L-valine transaminase activityGO:005265510.3BCAT1, BCAT2
10acyl-CoA dehydrogenase activityGO:00039959.7ACADM, ACADVL
11transaminase activityGO:00084839.6BCAT1, BCAT2
12oxidoreductase activity, acting on the CH-CH group of donorsGO:00166279.4ACADM, ACADVL
13flavin adenine dinucleotide bindingGO:00506609.4ACADM, ACADVL, DLD
14oxidoreductase activityGO:00164918.0ACADM, ACADVL, BCKDHA, BCKDHB, DLD, HADHA

Sources for Maple Syrup Urine Disease, Type Ii

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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