MCID: MPL012
MIFTS: 58

Maple Syrup Urine Disease, Type Ii malady

Genetic diseases, Rare diseases, Metabolic diseases, Nephrological diseases categories

Aliases & Classifications for Maple Syrup Urine Disease, Type Ii

About this section
Sources:
49OMIM, 11diseasecard, 65UMLS, 10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 36MeSH, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 29ICD9CM, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10, 34MedGen
See all sources

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

Name: Maple Syrup Urine Disease, Type Ii 49 11 65
Maple Syrup Urine Disease 10 21 45 22 23 47 12 51 24 65 36 67
Bckd Deficiency 21 45 22 23 51 67
Msud 21 45 22 23 51 67
Branched-Chain Ketoaciduria 21 22 23 51 67
Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency 45 23 67
Maple Syrup Urine Disease Type 1b 45 22 24
Maple Syrup Urine Disease Type 1a 45 22 24
Maple Syrup Urine Disease Type 2 45 22 24
Branched-Chain Ketoacid Dehydrogenase Deficiency 21 22
Keto Acid Decarboxylase Deficiency 45 67
Branched Chain Ketoaciduria 10 45
Maple Syrup Disease 21 22
Msud Type Ib 45 67
Msud2 45 67
Msud Due to Deficiency of E1-Beta Subunit of Branched-Chain Alpha-Keto Acid Dehydrogenase Complex 45
Branched-Chain 2-Ketoacid Dehydrogenase Deficiency 51
Thiamine-Responsive Maple Syrup Urine Disease 67
Intermittent Maple Syrup Urine Disease 67
Intermediate Maple Syrup Urine Disease 67
 
Maple Syrup Urine Disease, Type Ia 49
Maple Syrup Urine Disease, Type Ib 49
Maple Syrup Urine Disease Type Ii 67
Maple Syrup Urine Disease Type Ia 67
Maple Syrup Urine Disease Type Ib 67
Classic Maple Syrup Urine Disease 67
Maple Syrup Urine Disease 1a 67
Maple Syrup Urine Disease 1b 67
Maple Syrup Urine Disease 2 67
Bckdh Deficiency 51
Ketoacidaemia 10
Msud Type Ia 67
Ketoacidemia 23
Msud Type Ii 67
Msud Type 1a 45
Msud Type 2 45
Msud Type 3 45
Ketonemia 65
Msud1b 67
Msud1a 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
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: Antenatal,Childhood,Infancy,Neonatal; Age of death: early childhood,infantile,late childhood


External Ids:

OMIM49 248600
Disease Ontology10 DOID:9269
ICD9CM29 270.3
NCIt42 C34806
MeSH36 D008375
Orphanet51 511
SNOMED-CT59 27718001
ICD10 via Orphanet28 E71.0
MESH via Orphanet37 D008375
UMLS via Orphanet66 C0024776, C0268576
ICD1027 E71.0

Summaries for Maple Syrup Urine Disease, Type Ii

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UniProtKB/Swiss-Prot:67 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 intermittent maple syrup urine disease and thiamine-responsive maple syrup urine disease, and has symptoms including abnormality of the pharynx, stereotypic behavior and seizures. An important gene associated with Maple Syrup Urine Disease, Type Ii is BCKDHB (Branched Chain Keto Acid Dehydrogenase E1, Beta Polypeptide), and among its related pathways are Beta oxidation of octanoyl-CoA to hexanoyl-CoA and Propanoate metabolism. Affiliated tissues include lung and bone, and related mouse phenotypes are liver/biliary system and renal/urinary system.

Disease Ontology:10 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:23 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:45 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:49 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 summary for msud

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 top 50)    (show all 77)
idRelated DiseaseScoreTop Affiliating Genes
1intermittent maple syrup urine disease31.8BCKDHA, BCKDHB, DBT
2thiamine-responsive maple syrup urine disease31.6BCKDHA, BCKDHB, DBT, PPM1K
3phenylketonuria31.3ACADM, BTD, NIPSNAP1, PAH
4galactosemia30.5ACADM, BTD, HADHA, OTC
5classic maple syrup urine disease11.0
6cerebritis10.9
7intermediate maple syrup urine disease10.9
8maple syrup urine disease, mild variant10.9
9encephalopathy10.9
10dihydrolipoamide dehydrogenase deficiency10.8
11peritonitis10.7
12ophthalmoplegia10.6
13acrodermatitis enteropathica10.5
14brain injury10.5
15homocystinuria10.5
16hypoglycemia10.5
17congenital hypothyroidism10.5
18acrodermatitis10.5
19dermatitis10.5
20hypothyroidism10.5
21pancreatitis10.5
22enteropathica10.5
23argininosuccinic aciduria10.4
24tetralogy of fallot10.4
25citrullinemia10.4
26isovaleric acidemia10.4
27lesch-nyhan syndrome10.4
28cerebral palsy10.4
29hepatitis10.4
30oculocutaneous albinism10.4
31tetanus neonatorum10.4
32status epilepticus10.4
33neuronitis10.4
34axonal neuropathy10.4
352-hydroxyglutaric aciduria10.4
36amino acid metabolic disorder10.4
37blood protein disease10.4
38central nervous system disease10.4
39intracranial hypertension10.4
40lactic acidosis10.4
41learning disability10.4
42nervous system disease10.4
43neuropathy10.4
44prion disease10.4
45scoliosis10.4
46tetanus10.4
47albinism10.4
48genetic brain disorders10.4
49hyperphenylalaninemia10.4
50inborn amino acid metabolism disorder10.4

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 for Maple Syrup Urine Disease, Type Ii

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Symptoms by clinical synopsis from OMIM:

248600

Clinical features from OMIM:

248600

Symptoms:

 51 (show all 29)
  • unusual body odour
  • anomaly of the pharynx/pharyngeal anomaly
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • abnormal cry/voice/phonation disorder/nasal speech
  • abnormal odour of the urine
  • dystonia/torticollis/writer's cramp/blepharospasms
  • tics/stereotypias
  • hypotonia
  • areflexia/hyporeflexia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • obnubilation/coma/lethargia/desorientation
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • aminoacid metabolism anomalies/aminoaciduria
  • autosomal recessive inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • repeat respiratory infections
  • recurrent urinary infections
  • ataxia/incoordination/trouble of the equilibrium
  • chorea/athetosis/choreoathetosis/choreic syndrome
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • hyperactivity/attention deficit
  • delirium/hallucination
  • pancreatitis
  • movement disorder
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • early death/lethality

HPO human phenotypes related to Maple Syrup Urine Disease, Type Ii:

(show all 39)
id Description Frequency HPO Source Accession
1 abnormality of the pharynx hallmark (90%) HP:0000600
2 stereotypic behavior hallmark (90%) HP:0000733
3 seizures hallmark (90%) HP:0001250
4 muscular hypotonia hallmark (90%) HP:0001252
5 reduced tendon reflexes hallmark (90%) HP:0001315
6 flexion contracture hallmark (90%) HP:0001371
7 abnormality of the voice hallmark (90%) HP:0001608
8 nausea and vomiting hallmark (90%) HP:0002017
9 respiratory insufficiency hallmark (90%) HP:0002093
10 aminoaciduria hallmark (90%) HP:0003355
11 reduced consciousness/confusion hallmark (90%) HP:0004372
12 cognitive impairment hallmark (90%) HP:0100543
13 recurrent urinary tract infections typical (50%) HP:0000010
14 hallucinations typical (50%) HP:0000738
15 chorea typical (50%) HP:0002072
16 recurrent respiratory infections typical (50%) HP:0002205
17 incoordination typical (50%) HP:0002311
18 hemiplegia/hemiparesis typical (50%) HP:0004374
19 attention deficit hyperactivity disorder typical (50%) HP:0007018
20 pancreatitis occasional (7.5%) HP:0001733
21 reduced bone mineral density occasional (7.5%) HP:0004349
22 autosomal recessive inheritance HP:0000007
23 hallucinations HP:0000738
24 intellectual disability HP:0001249
25 seizures HP:0001250
26 ataxia HP:0001251
27 muscular hypotonia HP:0001252
28 lethargy HP:0001254
29 coma HP:0001259
30 hypertonia HP:0001276
31 growth abnormality HP:0001507
32 pancreatitis HP:0001733
33 hypoglycemia HP:0001943
34 ketosis HP:0001946
35 vomiting HP:0002013
36 cerebral edema HP:0002181
37 lactic acidosis HP:0003128
38 elevated plasma branched chain amino acids HP:0008344
39 feeding difficulties in infancy HP:0008872

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 Disease22 24
2 Maple Syrup Urine Disease Type 1a22 24 BCKDHA
3 Maple Syrup Urine Disease Type 1b22 24 BCKDHB
4 Maple Syrup Urine Disease Type 222 24 DBT

Anatomical Context for Maple Syrup Urine Disease, Type Ii

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MalaCards organs/tissues related to Maple Syrup Urine Disease, Type Ii:

33
Lung, Bone

Animal Models for Maple Syrup Urine Disease, Type Ii or affiliated genes

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0ACADM, ACADS, ACADVL, HADHA, HMGCL, OTC
2MP:00053678.3ACADS, BCAT2, BTD, DBT, HADHA, OTC
3MP:00107718.1ACADS, BCAT2, BTD, DBT, NIPSNAP1, OTC
4MP:00053867.3ACADS, ACADVL, BCAT2, BTD, DBT, HMGCL
5MP:00053766.8ACADM, ACADS, ACADVL, BCAT2, BTD, DBT

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:

67 (show all 19)
id Symbol AA change Variation ID SNP ID
1BCKDHAp.Arg159TrpVAR_004968
2BCKDHAp.Gln190LysVAR_004969
3BCKDHAp.Ala253ThrVAR_004970
4BCKDHAp.Ile326ThrVAR_004971
5BCKDHAp.Tyr413CysVAR_004972
6BCKDHAp.Tyr438AsnVAR_004973
7BCKDHAp.Gly290ArgVAR_015101
8BCKDHAp.Phe409CysVAR_015102
9BCKDHAp.Thr211MetVAR_069748
10BCKDHAp.Ala220ValVAR_069749
11BCKDHAp.Arg346CysVAR_069750
12BCKDHBp.His206ArgVAR_004974
13BCKDHBp.Arg183ProVAR_024851rs28934895
14BCKDHBp.Gly278SerVAR_024852
15BCKDHBp.Arg170HisVAR_068348
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 72)
id Gene Variation Type Significance SNP ID Assembly Location
1BCKDHANM_000709.3(BCKDHA): c.1312T> A (p.Tyr438Asn)single nucleotide variantPathogenicrs137852870GRCh37Chr 19, 41930487: 41930487
2BCKDHBNM_183050.2(BCKDHB): c.548G> C (p.Arg183Pro)single nucleotide variantPathogenicrs79761867GRCh37Chr 6, 80878662: 80878662
3DBTNM_001918.3(DBT): c.827T> G (p.Phe276Cys)single nucleotide variantPathogenicrs121964999GRCh37Chr 1, 100680485: 100680485
4DBTNM_001918.3(DBT): c.434-15_434-4delTTACCTTGTTACdeletionPathogenicrs727503895GRCh37Chr 1, 100684307: 100684318
5BCKDHBNM_000056.3(BCKDHB): c.93_103dupGGCGCGGGGCT (p.Phe35Trpfs)duplicationLikely pathogenicrs786204699GRCh37Chr 6, 80816503: 80816513
6DBTNM_001918.3(DBT): c.126T> G (p.Tyr42Ter)single nucleotide variantPathogenicrs794727262GRCh37Chr 1, 100706366: 100706366
7DBTNM_001918.3(DBT): c.433+1G> Tsingle nucleotide variantPathogenicrs794727635GRCh37Chr 1, 100696288: 100696288
8BCKDHANM_000709.3(BCKDHA): c.861_868delAGGCCCCG (p.Gly288Valfs)deletionPathogenicrs794727847GRCh37Chr 19, 41928541: 41928548
9BCKDHANM_000709.3(BCKDHA): c.868G> A (p.Gly290Arg)single nucleotide variantPathogenicrs137852871GRCh37Chr 19, 41928548: 41928548
10BCKDHANM_000709.3(BCKDHA): c.929C> G (p.Thr310Arg)single nucleotide variantPathogenicrs137852875GRCh37Chr 19, 41928609: 41928609
11PPM1KPPM1K, 2-BP DEL, 417TAdeletionPathogenic
12BCKDHBNM_183050.2(BCKDHB): c.1114G> T (p.Glu372Ter)single nucleotide variantPathogenicrs386834234GRCh37Chr 6, 81053456: 81053456
13BCKDHBNM_183050.2(BCKDHB): c.832G> A (p.Gly278Ser)single nucleotide variantPathogenicrs386834233GRCh37Chr 6, 80910740: 80910740
14BCKDHANM_000709.3(BCKDHA): c.1036C> T (p.Arg346Cys)single nucleotide variantPathogenicrs182923857GRCh37Chr 19, 41928943: 41928943
15BCKDHANM_000709.3(BCKDHA): c.1037G> A (p.Arg346His)single nucleotide variantLikely pathogenicrs398123486GRCh37Chr 19, 41928944: 41928944
16BCKDHANM_000709.3(BCKDHA): c.117delC (p.Arg40Glyfs)deletionPathogenicrs398123489GRCh37Chr 19, 41916550: 41916550
17BCKDHANM_000709.3(BCKDHA): c.1234G> A (p.Val412Met)single nucleotide variantPathogenicrs398123490GRCh37Chr 19, 41930409: 41930409
18BCKDHANM_000709.3(BCKDHA): c.1302C> A (p.Tyr434Ter)single nucleotide variantPathogenicrs398123491GRCh37Chr 19, 41930477: 41930477
19BCKDHANM_000709.3(BCKDHA): c.1310_1311delAC (p.His437Leufs)deletionPathogenicrs398123492GRCh37Chr 19, 41930485: 41930486
20BCKDHANM_000709.3(BCKDHA): c.1314C> A (p.Tyr438Ter)single nucleotide variantPathogenicrs398123493GRCh37Chr 19, 41930489: 41930489
21BCKDHANM_000709.3(BCKDHA): c.14delT (p.Ile5Thrfs)deletionPathogenicrs398123494GRCh37Chr 19, 41903746: 41903746
22BCKDHANM_000709.3(BCKDHA): c.288+1G> Asingle nucleotide variantPathogenicrs398123496GRCh37Chr 19, 41916722: 41916722
23BCKDHANM_000709.3(BCKDHA): c.288+9C> Tsingle nucleotide variantPathogenicrs398123497GRCh37Chr 19, 41916730: 41916730
24BCKDHANM_000709.3(BCKDHA): c.370C> T (p.Arg124Trp)single nucleotide variantLikely pathogenicrs398123499GRCh37Chr 19, 41916909: 41916909
25BCKDHANM_000709.3(BCKDHA): c.632C> T (p.Thr211Met)single nucleotide variantPathogenicrs398123503GRCh37Chr 19, 41925187: 41925187
26BCKDHANM_000709.3(BCKDHA): c.659C> T (p.Ala220Val)single nucleotide variantPathogenicrs375785084GRCh37Chr 19, 41928081: 41928081
27BCKDHANM_000709.3(BCKDHA): c.741dupT (p.Ala248Cysfs)duplicationPathogenicrs398123504GRCh37Chr 19, 41928163: 41928163
28BCKDHANM_000709.3(BCKDHA): c.761C> A (p.Ala254Asp)single nucleotide variantPathogenicrs373713279GRCh37Chr 19, 41928183: 41928183
29BCKDHANM_000709.3(BCKDHA): c.853G> C (p.Ala285Pro)single nucleotide variantPathogenicrs398123508GRCh37Chr 19, 41928275: 41928275
30BCKDHANM_000709.3(BCKDHA): c.905A> C (p.Asp302Ala)single nucleotide variantPathogenicrs398123509GRCh37Chr 19, 41928585: 41928585
31BCKDHANM_000709.3(BCKDHA): c.909_910delGT (p.Phe304Cysfs)deletionPathogenicrs398123510GRCh37Chr 19, 41928589: 41928590
32BCKDHANM_000709.3(BCKDHA): c.917delT (p.Val306Aspfs)deletionPathogenicrs398123512GRCh37Chr 19, 41928597: 41928597
33BCKDHANM_000709.3(BCKDHA): c.964C> T (p.Gln322Ter)single nucleotide variantPathogenicrs398123513GRCh37Chr 19, 41928644: 41928644
34BCKDHANM_000709.3(BCKDHA): c.979G> A (p.Glu327Lys)single nucleotide variantLikely pathogenicrs398123515GRCh37Chr 19, 41928659: 41928659
35DBTNM_001918.3(DBT): c.1291C> T (p.Arg431Ter)single nucleotide variantPathogenicrs398123660GRCh37Chr 1, 100661969: 100661969
36DBTNM_001918.3(DBT): c.1447T> C (p.Ter483Arg)single nucleotide variantLikely pathogenicrs398123663GRCh37Chr 1, 100661813: 100661813
37DBTNM_001918.3(DBT): c.251G> A (p.Trp84Ter)single nucleotide variantPathogenicrs398123665GRCh37Chr 1, 100700992: 100700992
38DBTNM_001918.3(DBT): c.272_275delCAGT (p.Thr91Serfs)deletionPathogenicrs398123666GRCh37Chr 1, 100696447: 100696450
39DBTNM_001918.3(DBT): c.339_345delTTATGAT (p.Tyr114Glufs)deletionPathogenicrs398123667GRCh37Chr 1, 100696377: 100696383
40DBTNM_001918.3(DBT): c.360delA (p.Lys120Asnfs)deletionPathogenicrs398123668GRCh37Chr 1, 100696362: 100696362
41DBTNM_001918.3(DBT): c.51+1G> Tsingle nucleotide variantPathogenicrs398123669GRCh37Chr 1, 100715325: 100715325
42DBTNM_001918.3(DBT): c.670G> T (p.Glu224Ter)single nucleotide variantPathogenicrs74103423GRCh37Chr 1, 100681641: 100681641
43DBTNM_001918.3(DBT): c.773-2A> Gsingle nucleotide variantPathogenicrs398123674GRCh37Chr 1, 100680541: 100680541
44DBTNM_001918.3(DBT): c.871C> T (p.Arg291Ter)single nucleotide variantPathogenicrs398123675GRCh37Chr 1, 100680441: 100680441
45DBTNM_001918.3(DBT): c.901C> T (p.Arg301Cys)single nucleotide variantPathogenicrs185492864GRCh37Chr 1, 100680411: 100680411
46DBTNM_001918.3(DBT): c.939G> C (p.Lys313Asn)single nucleotide variantPathogenicrs398123676GRCh37Chr 1, 100680373: 100680373
47BCKDHBNM_000056.3(BCKDHB): c.1016C> T (p.Ser339Leu)single nucleotide variantPathogenicrs398124561GRCh37Chr 6, 80982916: 80982916
48BCKDHBNM_000056.3(BCKDHB): c.1046G> A (p.Cys349Tyr)single nucleotide variantLikely pathogenicrs398124562GRCh37Chr 6, 81053388: 81053388
49BCKDHBNM_000056.3(BCKDHB): c.302G> A (p.Gly101Asp)single nucleotide variantLikely pathogenicrs398124571GRCh37Chr 6, 80838905: 80838905
50BCKDHBNM_000056.3(BCKDHB): c.33_34delAC (p.Leu12Glnfs)deletionPathogenicrs398124572GRCh37Chr 6, 80816443: 80816444
51BCKDHBNM_000056.3(BCKDHB): c.342T> G (p.Tyr114Ter)single nucleotide variantPathogenicrs398124573GRCh37Chr 6, 80838945: 80838945
52BCKDHBNM_000056.3(BCKDHB): c.344-1G> Asingle nucleotide variantPathogenicrs398124574GRCh37Chr 6, 80877394: 80877394
53BCKDHBNM_000056.3(BCKDHB): c.479T> G (p.Ile160Ser)single nucleotide variantLikely pathogenicrs398124576GRCh37Chr 6, 80878593: 80878593
54BCKDHBNM_000056.3(BCKDHB): c.488A> T (p.Glu163Val)single nucleotide variantPathogenicrs398124577GRCh37Chr 6, 80878602: 80878602
55BCKDHBNM_000056.3(BCKDHB): c.508C> A (p.Arg170Ser)single nucleotide variantLikely pathogenicrs398124581GRCh37Chr 6, 80878622: 80878622
56BCKDHBNM_000056.3(BCKDHB): c.508C> G (p.Arg170Gly)single nucleotide variantLikely pathogenicrs398124581GRCh37Chr 6, 80878622: 80878622
57BCKDHBNM_000056.3(BCKDHB): c.508C> T (p.Arg170Cys)single nucleotide variantLikely pathogenicrs398124581GRCh37Chr 6, 80878622: 80878622
58BCKDHBNM_000056.3(BCKDHB): c.509G> A (p.Arg170His)single nucleotide variantLikely pathogenic, Pathogenicrs371518124GRCh37Chr 6, 80878623: 80878623
59BCKDHBNM_000056.3(BCKDHB): c.526A> T (p.Asn176Tyr)single nucleotide variantPathogenicrs398124582GRCh37Chr 6, 80878640: 80878640
60BCKDHBNM_000056.3(BCKDHB): c.547C> T (p.Arg183Trp)single nucleotide variantLikely pathogenicrs149766077GRCh37Chr 6, 80878661: 80878661
61BCKDHBNM_000056.3(BCKDHB): c.592_593delCA (p.Gln198Glufs)deletionPathogenicrs398124586GRCh37Chr 6, 80878706: 80878707
62BCKDHBNM_000056.3(BCKDHB): c.595_596delAG (p.Pro200Terfs)deletionPathogenicrs398124587GRCh37Chr 6, 80878709: 80878710
63BCKDHBNM_000056.3(BCKDHB): c.633+1G> Asingle nucleotide variantPathogenicrs398124589GRCh37Chr 6, 80878748: 80878748
64BCKDHBNM_000056.3(BCKDHB): c.748G> T (p.Glu250Ter)single nucleotide variantPathogenicrs398124592GRCh37Chr 6, 80910656: 80910656
65BCKDHBNM_000056.3(BCKDHB): c.752T> C (p.Val251Ala)single nucleotide variantPathogenicrs398124593GRCh37Chr 6, 80910660: 80910660
66BCKDHBNM_183050.2(BCKDHB): c.799C> T (p.Gln267Ter)single nucleotide variantLikely pathogenic, Pathogenicrs398124594GRCh37Chr 6, 80910707: 80910707
67BCKDHBNM_000056.3(BCKDHB): c.840+2T> Gsingle nucleotide variantPathogenicrs398124596GRCh37Chr 6, 80910750: 80910750
68BCKDHBNM_183050.2(BCKDHB): c.853C> T (p.Arg285Ter)single nucleotide variantLikely pathogenic, Pathogenicrs398124598GRCh37Chr 6, 80912831: 80912831
69BCKDHBNM_000056.3(BCKDHB): c.902T> G (p.Val301Gly)single nucleotide variantLikely pathogenicrs398124600GRCh37Chr 6, 80912880: 80912880
70BCKDHBNM_000056.3(BCKDHB): c.93_103delGGCGCGGGGCT (p.Ala32Phefs)deletionPathogenicrs398124601GRCh37Chr 6, 80816503: 80816513
71BCKDHBNM_000056.3(BCKDHB): c.952-1G> Asingle nucleotide variantPathogenicrs398124602GRCh37Chr 6, 80982851: 80982851
72BCKDHBNM_183050.2(BCKDHB): c.970C> T (p.Arg324Ter)single nucleotide variantLikely pathogenic, 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 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9ACADM, HADHA
29.9ACADM, HADHA
3
Show member pathways
9.7BCKDHA, BCKDHB, DBT, DLD
4
Show member pathways
9.7BCKDHA, BCKDHB, DBT, DLD
5
Show member pathways
9.6ACADS, HADHA, HMGCL
69.6ACADM, ACADVL, HADHA
79.5BCAT1, BCAT2
8
Show member pathways
9.3ACADM, ACADS, ACADVL, HADHA
9
Show member pathways
9.3ACADM, ACADS, ACADVL, HADHA
10
Show member pathways
9.1ACADM, ACADS, ACADVL, HADHA, HMGCL
11
Show member pathways
9.0ACADM, ACADS, ACADVL, DLD, HADHA
12
Show member pathways
7.1ACADM, ACADS, BCAT1, BCAT2, BCKDHA, BCKDHB
13
Show member pathways
6.9ACAD8, ACADM, ACADS, BCAT1, BCAT2, BCKDHA
14
Show member pathways
5.7ACAD8, ACADM, ACADS, ACADVL, BCAT1, BCAT2

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:000594710.4BCKDHA, BCKDHB, DBT
2mitochondrial nucleoidGO:00426459.9ACADVL, DBT, HADHA
3mitochondrial inner membraneGO:00057439.2ACADVL, HADHA, HMGCL, NIPSNAP1, OTC
4mitochondrial matrixGO:00057596.8ACAD8, ACADM, ACADS, ACADVL, BCAT2, BCKDHA
5mitochondrionGO:00057395.7ACAD8, ACADM, ACADS, ACADVL, BCAT1, BCAT2

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1liver developmentGO:000188910.3ACADM, HMGCL, OTC
2response to starvationGO:004259410.2ACADM, ACADS, HMGCL
3branched-chain amino acid metabolic processGO:000908110.1BCAT1, BCAT2
4branched-chain amino acid biosynthetic processGO:000908210.1BCAT1, BCAT2
5fatty acid beta-oxidationGO:00066359.9ACADM, ACADS, ACADVL, HADHA
6fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:00335399.8ACAD8, ACADM, ACADS, ACADVL
7lipid homeostasisGO:00550889.8ACAD8, ACADM, ACADS, ACADVL
8cellular lipid metabolic processGO:00442559.5ACADM, ACADS, ACADVL, HADHA, HMGCL
9branched-chain amino acid catabolic processGO:00090838.6ACAD8, BCAT1, BCAT2, BCKDHA, BCKDHB, DBT
10oxidation-reduction processGO:00551147.8ACAD8, ACADM, ACADS, ACADVL, BCKDHA, BCKDHB
11cellular nitrogen compound metabolic processGO:00346417.5ACAD8, BCAT1, BCAT2, BCKDHA, BCKDHB, DBT
12metabolic processGO:00081526.1ACAD8, ACADM, ACADS, ACADVL, BCAT1, BCAT2
13small molecule metabolic processGO:00442815.8ACAD8, ACADM, ACADS, ACADVL, BCAT1, BCAT2

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1alpha-ketoacid dehydrogenase activityGO:000382610.5BCKDHA, BCKDHB
23-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activityGO:000386310.5BCKDHA, BCKDHB
3oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptorGO:005289010.0ACAD8, ACADM, ACADVL
4carboxy-lyase activityGO:001683110.0BCKDHA, BCKDHB
5branched-chain-amino-acid transaminase activityGO:00040849.9BCAT1, BCAT2
6L-leucine transaminase activityGO:00526549.9BCAT1, BCAT2
7L-valine transaminase activityGO:00526559.9BCAT1, BCAT2
8L-isoleucine transaminase activityGO:00526569.9BCAT1, BCAT2
9acyl-CoA dehydrogenase activityGO:00039959.7ACAD8, ACADM, ACADS, ACADVL
10oxidoreductase activity, acting on the CH-CH group of donorsGO:00166279.6ACAD8, ACADM, ACADS, ACADVL
11amino acid bindingGO:00165979.5OTC, PAH
12flavin adenine dinucleotide bindingGO:00506609.1ACAD8, ACADM, ACADS, ACADVL, DLD
13electron carrier activityGO:00090559.1ACAD8, ACADM, ACADS, ACADVL
14fatty-acyl-CoA bindingGO:00000628.9ACAD8, ACADM, ACADS, ACADVL, HADHA, HMGCL
15catalytic activityGO:00038248.7BCAT1, BCAT2, BCKDHB, HADHA, HMGCL, PPM1K

Sources for Maple Syrup Urine Disease, Type Ii

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet