MCID: MPL012
MIFTS: 57

Maple Syrup Urine Disease, Type Ii malady

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

Aliases & Classifications for Maple Syrup Urine Disease, Type Ii

About this section
Sources:
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Maple Syrup Urine Disease, Type Ii 50 12 66
Maple Syrup Urine Disease 50 11 22 46 23 24 13 52 68 25 48 37 66
Bckd Deficiency 22 46 23 24 52 68
Msud 22 46 23 24 52 68
Branched-Chain Ketoaciduria 22 23 24 52 68
Classic Maple Syrup Urine Disease 52 68 25 66
Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency 46 24 68
Intermittent Maple Syrup Urine Disease 52 68 66
Branched-Chain Ketoacid Dehydrogenase Deficiency 22 23
Thiamine-Responsive Maple Syrup Urine Disease 52 68
Keto Acid Decarboxylase Deficiency 46 68
Maple Syrup Urine Disease Type Ii 68 25
Maple Syrup Urine Disease Type Ib 68 25
Maple Syrup Urine Disease Type 1a 46 23
Maple Syrup Urine Disease Type Ia 68 25
Maple Syrup Urine Disease Type 1b 46 23
Maple Syrup Urine Disease Type 2 46 23
Branched Chain Ketoaciduria 11 46
Maple Syrup Disease 22 23
Msud Type Ib 46 68
Msud2 46 68
Msud Due to Deficiency of E1-Beta Subunit of Branched-Chain Alpha-Keto Acid Dehydrogenase Complex 46
Thiamine-Responsive Branched-Chain 2-Ketoacid Dehydrogenase Deficiency 52
Intermittent Branched-Chain 2-Ketoacid Dehydrogenase Deficiency 52
Lactic Acidosis, Congenital Infantile, Due to Lad Deficiency 66
Classic Branched-Chain 2-Ketoacid Dehydrogenase Deficiency 52
Branched-Chain 2-Ketoacid Dehydrogenase Deficiency 52
 
Maple Syrup Urine Disease, Thiamine Responsive 66
Dihydrolipoamide Dehydrogenase Deficiency 11
Nadh Cytochrome B5 Reductase Deficiency 66
Intermediate Maple Syrup Urine Disease 68
Thiamine-Responsive Bckd Deficiency 52
Classic Branched-Chain Ketoaciduria 52
Maple Syrup Urine Disease, Type Ia 50
Maple Syrup Urine Disease, Type Ib 50
Intermittent Bckd Deficiency 52
Maple Syrup Urine Disease 1a 68
Maple Syrup Urine Disease 1b 68
Maple Syrup Urine Disease 2 68
Thiamine-Responsive Msud 52
Classic Bckd Deficiency 52
Intermittent Msud 52
Bckdh Deficiency 52
Ketoacidaemia 11
Msud Type 1a 46
Ketoacidemia 24
Msud Type Ia 68
Classic Msud 52
Msud Type Ii 68
Msud Type 2 46
Msud Type 3 46
Ketonemia 66
Msud1a 68
Msud1b 68

Characteristics:

Orphanet epidemiological data:

52
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:

62
maple syrup urine disease, type ii:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 248600
Disease Ontology11 DOID:9269
ICD1028 E71.0
MeSH37 D008375
NCIt43 C34806
SNOMED-CT60 27718001
UMLS via Orphanet67 C0024776, C0268576, C0268568 C0268569, more
ICD10 via Orphanet29 E71.0
MESH via Orphanet38 D008375

Summaries for Maple Syrup Urine Disease, Type Ii

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UniProtKB/Swiss-Prot:68 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 intermediate maple syrup urine disease and maple syrup urine disease, mild variant, and has symptoms including abnormality of the pharynx, stereotypy and seizures. An important gene associated with Maple Syrup Urine Disease, Type Ii is BCKDHA (Branched Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide), and among its related pathways are beta-Alanine metabolism (KEGG) and Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA. Affiliated tissues include bone, and related mouse phenotypes are liver/biliary system and integument.

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:24 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:46 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:50 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 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 top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1intermediate maple syrup urine disease12.7
2maple syrup urine disease, mild variant12.7
3dihydrolipoamide dehydrogenase deficiency12.1
4cerebritis10.7
5phenylketonuria10.6
6encephalopathy10.6
7acrodermatitis10.4
8peritonitis10.4
9was-related disorders10.3ACADM, ACADVL
10acrodermatitis enteropathica10.3
11enteropathica10.3
12glioma10.3
13wagr syndrome10.3ACADVL, OTC
14mitochondrial complex iii deficiency, nuclear type 410.3ACADM, ACADVL
15polyneuropathy-intellectual disability-acromicria-premature menopause syndrome10.3BCKDHA, BCKDHB, DBT, PPM1K
16isovaleric acidemia10.3
17amino acid metabolic disorder10.3
18leukemia, chronic lymphocytic 310.2ACADVL, OTC
19warburg micro syndrome10.2ACADVL, HADHA
20brain injury10.2
21congenital hypothyroidism10.2
22hypothyroidism10.2
23dermatitis10.2
24pancreatitis10.2
25homocystinuria10.2
26hypoglycemia10.2
27propionicacidemia10.2ACADM, HMGCL, OTC
28hyperphosphatemic familial tumoral calcinosis, fgf23-related10.2BCAT1, BCAT2
29biotinidase deficiency10.2ACADM, BTD
30body dysmorphic disorder10.2ACADM, BCKDHA, BCKDHB, HMGCL
31hyperinsulinemic hypoglycemia, familial, 410.2ACADM, ACADVL, HADHA
32fga-related congenital afibrinogenemia10.2ACADM, ACADVL, HADHA
33atrial fibrillation, familial, 410.2ACADM, ACADVL, BTD
34argininosuccinic aciduria10.1
35tetralogy of fallot10.1
36galactosemia10.1
37citrullinemia10.1
38lesch-nyhan syndrome10.1
39cerebral palsy10.1
40hepatitis10.1
412-hydroxyglutaric aciduria10.1
42oculocutaneous albinism10.1
43scoliosis10.1
44tetanus10.1
45tetanus neonatorum10.1
46status epilepticus10.1
47lactic acidosis10.1
48axonal neuropathy10.1
49neuronitis10.1
50neuropathy10.1

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:

 52 (show all 11)
  • abnormality of the pharynx
  • intellectual disability
  • seizures
  • ataxia
  • muscular hypotonia
  • global developmental delay
  • reduced tendon reflexes
  • abnormality of the voice
  • respiratory insufficiency
  • hemiplegia/hemiparesis
  • elevated plasma branched chain amino acids

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

(show all 38)
id Description Frequency HPO Source Accession
1 abnormality of the pharynx hallmark (90%) HP:0000600
2 stereotypy 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 hallucinations HP:0000738
23 intellectual disability HP:0001249
24 seizures HP:0001250
25 ataxia HP:0001251
26 muscular hypotonia HP:0001252
27 lethargy HP:0001254
28 coma HP:0001259
29 hypertonia HP:0001276
30 growth abnormality HP:0001507
31 pancreatitis HP:0001733
32 hypoglycemia HP:0001943
33 ketosis HP:0001946
34 vomiting HP:0002013
35 cerebral edema HP:0002181
36 lactic acidosis HP:0003128
37 elevated plasma branched chain amino acids HP:0008344
38 feeding difficulties in infancy HP:0008872

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


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

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 1a25 23 BCKDHA
2 Maple Syrup Urine Disease25 23
3 Maple Syrup Urine Disease Type 1b25 23 BCKDHB
4 Maple Syrup Urine Disease Type 225 23 DBT
5 Classical Maple Syrup Urine Disease25

Anatomical Context for Maple Syrup Urine Disease, Type Ii

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

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.8ACADM, ACADVL, BCKDK, HADHA, HMGCL, OTC
2MP:00107718.4BCAT2, BCKDK, BTD, DBT, NIPSNAP1, OTC
3MP:00053678.0BCAT2, BCKDK, BTD, DBT, HADHA, OTC
4MP:00053867.1ACADVL, BCAT2, BCKDK, BTD, DBT, HMGCL
5MP:00053766.6ACADM, ACADVL, BCAT2, BCKDK, 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:

68 (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 86)
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_183050.3(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_000056.4(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
9BCKDHBNM_183050.3(BCKDHB): c.1022T> A (p.Ile341Asn)single nucleotide variantLikely pathogenic, Pathogenicrs796051939GRCh37Chr 6, 80982922: 80982922
10BCKDHANM_000709.3(BCKDHA): c.844G> C (p.Asp282His)single nucleotide variantPathogenicrs869312124GRCh38Chr 19, 41422361: 41422361
11BCKDHANM_000709.3(BCKDHA): c.476G> A (p.Arg159Gln)single nucleotide variantPathogenicrs773048903GRCh38Chr 19, 41414149: 41414149
12BCKDHANM_000709.3(BCKDHA): c.1198A> T (p.Lys400Ter)single nucleotide variantPathogenicrs863225262GRCh38Chr 19, 41424468: 41424468
13BCKDHANM_000709.3(BCKDHA): c.470A> C (p.Gln157Pro)single nucleotide variantPathogenicrs869312125GRCh38Chr 19, 41414143: 41414143
14BCKDHBNM_183050.3(BCKDHB): c.293T> G (p.Val98Gly)single nucleotide variantPathogenicrs869312126GRCh38Chr 6, 80129179: 80129179
15BCKDHBNM_183050.3(BCKDHB): c.554C> T (p.Pro185Leu)single nucleotide variantPathogenicrs148905512GRCh37Chr 6, 80878668: 80878668
16BCKDHBNM_183050.3(BCKDHB): c.197-2A> Gsingle nucleotide variantPathogenicrs869312127GRCh38Chr 6, 80127545: 80127545
17BCKDHBNM_183050.3(BCKDHB): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs869312128GRCh37Chr 6, 80816413: 80816413
18BCKDHBNM_000056.4(BCKDHB): c.-67_196del263deletionPathogenicGRCh38Chr 6, 80106627: 80106889
19BCKDHBNM_183050.3(BCKDHB): c.1065delT (p.Pro356Leufs)deletionPathogenicrs869312129GRCh37Chr 6, 81053407: 81053407
20BCKDHBNM_183050.3(BCKDHB): c.401T> A (p.Ile134Asn)single nucleotide variantPathogenicrs869312130GRCh38Chr 6, 80167735: 80167735
21BCKDHBNM_183050.3(BCKDHB): c.964A> G (p.Thr322Ala)single nucleotide variantPathogenicrs869312131GRCh37Chr 6, 80982864: 80982864
22BCKDHANM_000709.3(BCKDHA): c.940C> T (p.Arg314Ter)single nucleotide variantPathogenicrs753698250GRCh37Chr 19, 41928620: 41928620
23DBTNM_001918.3(DBT): c.1033G> A (p.Gly345Arg)single nucleotide variantPathogenicrs869312132GRCh37Chr 1, 100672177: 100672177
24BCKDHANM_000709.3(BCKDHA): c.868G> A (p.Gly290Arg)single nucleotide variantPathogenicrs137852871GRCh37Chr 19, 41928548: 41928548
25BCKDHANM_000709.3(BCKDHA): c.929C> G (p.Thr310Arg)single nucleotide variantPathogenicrs137852875GRCh37Chr 19, 41928609: 41928609
26BCKDHBNM_183050.3(BCKDHB): c.1114G> T (p.Glu372Ter)single nucleotide variantPathogenicrs386834234GRCh37Chr 6, 81053456: 81053456
27BCKDHBNM_183050.3(BCKDHB): c.832G> A (p.Gly278Ser)single nucleotide variantPathogenicrs386834233GRCh37Chr 6, 80910740: 80910740
28BCKDHANM_000709.3(BCKDHA): c.1036C> T (p.Arg346Cys)single nucleotide variantPathogenicrs182923857GRCh37Chr 19, 41928943: 41928943
29BCKDHANM_000709.3(BCKDHA): c.1037G> A (p.Arg346His)single nucleotide variantLikely pathogenicrs398123486GRCh37Chr 19, 41928944: 41928944
30BCKDHANM_000709.3(BCKDHA): c.117delC (p.Arg40Glyfs)deletionPathogenicrs398123489GRCh37Chr 19, 41916550: 41916550
31BCKDHANM_000709.3(BCKDHA): c.1234G> A (p.Val412Met)single nucleotide variantPathogenicrs398123490GRCh37Chr 19, 41930409: 41930409
32BCKDHANM_000709.3(BCKDHA): c.1302C> A (p.Tyr434Ter)single nucleotide variantPathogenicrs398123491GRCh37Chr 19, 41930477: 41930477
33BCKDHANM_000709.3(BCKDHA): c.1310_1311delAC (p.His437Leufs)deletionPathogenicrs398123492GRCh37Chr 19, 41930485: 41930486
34BCKDHANM_000709.3(BCKDHA): c.1314C> A (p.Tyr438Ter)single nucleotide variantPathogenicrs398123493GRCh37Chr 19, 41930489: 41930489
35BCKDHANM_000709.3(BCKDHA): c.14delT (p.Ile5Thrfs)deletionPathogenicrs398123494GRCh37Chr 19, 41903746: 41903746
36BCKDHANM_000709.3(BCKDHA): c.288+1G> Asingle nucleotide variantPathogenicrs398123496GRCh37Chr 19, 41916722: 41916722
37BCKDHANM_000709.3(BCKDHA): c.288+9C> Tsingle nucleotide variantPathogenicrs398123497GRCh37Chr 19, 41916730: 41916730
38BCKDHANM_000709.3(BCKDHA): c.370C> T (p.Arg124Trp)single nucleotide variantLikely pathogenicrs398123499GRCh37Chr 19, 41916909: 41916909
39BCKDHANM_000709.3(BCKDHA): c.632C> T (p.Thr211Met)single nucleotide variantPathogenicrs398123503GRCh37Chr 19, 41925187: 41925187
40BCKDHANM_000709.3(BCKDHA): c.659C> T (p.Ala220Val)single nucleotide variantPathogenicrs375785084GRCh37Chr 19, 41928081: 41928081
41BCKDHANM_000709.3(BCKDHA): c.741dupT (p.Ala248Cysfs)duplicationPathogenicrs398123504GRCh37Chr 19, 41928163: 41928163
42BCKDHANM_000709.3(BCKDHA): c.761C> A (p.Ala254Asp)single nucleotide variantPathogenicrs373713279GRCh37Chr 19, 41928183: 41928183
43BCKDHANM_000709.3(BCKDHA): c.853G> C (p.Ala285Pro)single nucleotide variantPathogenicrs398123508GRCh37Chr 19, 41928275: 41928275
44BCKDHANM_000709.3(BCKDHA): c.905A> C (p.Asp302Ala)single nucleotide variantPathogenicrs398123509GRCh37Chr 19, 41928585: 41928585
45BCKDHANM_000709.3(BCKDHA): c.909_910delGT (p.Phe304Cysfs)deletionPathogenicrs398123510GRCh37Chr 19, 41928589: 41928590
46BCKDHANM_000709.3(BCKDHA): c.917delT (p.Val306Aspfs)deletionPathogenicrs398123512GRCh37Chr 19, 41928597: 41928597
47BCKDHANM_000709.3(BCKDHA): c.964C> T (p.Gln322Ter)single nucleotide variantPathogenicrs398123513GRCh37Chr 19, 41928644: 41928644
48BCKDHANM_000709.3(BCKDHA): c.979G> A (p.Glu327Lys)single nucleotide variantLikely pathogenic, Pathogenicrs398123515GRCh37Chr 19, 41928659: 41928659
49DBTNM_001918.3(DBT): c.1291C> T (p.Arg431Ter)single nucleotide variantPathogenicrs398123660GRCh37Chr 1, 100661969: 100661969
50DBTNM_001918.3(DBT): c.1447T> C (p.Ter483Arg)single nucleotide variantLikely pathogenicrs398123663GRCh37Chr 1, 100661813: 100661813
51DBTNM_001918.3(DBT): c.251G> A (p.Trp84Ter)single nucleotide variantPathogenicrs398123665GRCh37Chr 1, 100700992: 100700992
52DBTNM_001918.3(DBT): c.272_275delCAGT (p.Thr91Serfs)deletionPathogenicrs398123666GRCh37Chr 1, 100696447: 100696450
53DBTNM_001918.3(DBT): c.339_345delTTATGAT (p.Tyr114Glufs)deletionPathogenicrs398123667GRCh37Chr 1, 100696377: 100696383
54DBTNM_001918.3(DBT): c.360delA (p.Lys120Asnfs)deletionPathogenicrs398123668GRCh37Chr 1, 100696362: 100696362
55DBTNM_001918.3(DBT): c.51+1G> Tsingle nucleotide variantPathogenicrs398123669GRCh37Chr 1, 100715325: 100715325
56DBTNM_001918.3(DBT): c.670G> T (p.Glu224Ter)single nucleotide variantPathogenicrs74103423GRCh37Chr 1, 100681641: 100681641
57DBTNM_001918.3(DBT): c.773-2A> Gsingle nucleotide variantPathogenicrs398123674GRCh37Chr 1, 100680541: 100680541
58DBTNM_001918.3(DBT): c.871C> T (p.Arg291Ter)single nucleotide variantPathogenicrs398123675GRCh37Chr 1, 100680441: 100680441
59DBTNM_001918.3(DBT): c.901C> T (p.Arg301Cys)single nucleotide variantPathogenicrs185492864GRCh37Chr 1, 100680411: 100680411
60DBTNM_001918.3(DBT): c.939G> C (p.Lys313Asn)single nucleotide variantPathogenicrs398123676GRCh37Chr 1, 100680373: 100680373
61BCKDHBNM_000056.4(BCKDHB): c.1016C> T (p.Ser339Leu)single nucleotide variantPathogenicrs398124561GRCh37Chr 6, 80982916: 80982916
62BCKDHBNM_000056.4(BCKDHB): c.1046G> A (p.Cys349Tyr)single nucleotide variantLikely pathogenicrs398124562GRCh37Chr 6, 81053388: 81053388
63BCKDHBNM_000056.4(BCKDHB): c.302G> A (p.Gly101Asp)single nucleotide variantLikely pathogenicrs398124571GRCh37Chr 6, 80838905: 80838905
64BCKDHBNM_000056.4(BCKDHB): c.33_34delAC (p.Leu12Glnfs)deletionPathogenicrs398124572GRCh37Chr 6, 80816443: 80816444
65BCKDHBNM_000056.4(BCKDHB): c.342T> G (p.Tyr114Ter)single nucleotide variantPathogenicrs398124573GRCh37Chr 6, 80838945: 80838945
66BCKDHBNM_000056.4(BCKDHB): c.344-1G> Asingle nucleotide variantPathogenicrs398124574GRCh37Chr 6, 80877394: 80877394
67BCKDHBNM_000056.4(BCKDHB): c.479T> G (p.Ile160Ser)single nucleotide variantLikely pathogenicrs398124576GRCh37Chr 6, 80878593: 80878593
68BCKDHBNM_000056.4(BCKDHB): c.488A> T (p.Glu163Val)single nucleotide variantPathogenicrs398124577GRCh37Chr 6, 80878602: 80878602
69BCKDHBNM_000056.4(BCKDHB): c.508C> A (p.Arg170Ser)single nucleotide variantLikely pathogenicrs398124581GRCh37Chr 6, 80878622: 80878622
70BCKDHBNM_000056.4(BCKDHB): c.508C> G (p.Arg170Gly)single nucleotide variantLikely pathogenicrs398124581GRCh37Chr 6, 80878622: 80878622
71BCKDHBNM_000056.4(BCKDHB): c.508C> T (p.Arg170Cys)single nucleotide variantLikely pathogenicrs398124581GRCh37Chr 6, 80878622: 80878622
72BCKDHBNM_000056.4(BCKDHB): c.509G> A (p.Arg170His)single nucleotide variantLikely pathogenic, Pathogenicrs371518124GRCh37Chr 6, 80878623: 80878623
73BCKDHBNM_000056.4(BCKDHB): c.526A> T (p.Asn176Tyr)single nucleotide variantPathogenicrs398124582GRCh37Chr 6, 80878640: 80878640
74BCKDHBNM_000056.4(BCKDHB): c.547C> T (p.Arg183Trp)single nucleotide variantLikely pathogenicrs149766077GRCh37Chr 6, 80878661: 80878661
75BCKDHBNM_000056.4(BCKDHB): c.592_593delCA (p.Gln198Glufs)deletionPathogenicrs398124586GRCh37Chr 6, 80878706: 80878707
76BCKDHBNM_000056.4(BCKDHB): c.595_596delAG (p.Pro200Terfs)deletionPathogenicrs398124587GRCh37Chr 6, 80878709: 80878710
77BCKDHBNM_000056.4(BCKDHB): c.633+1G> Asingle nucleotide variantPathogenicrs398124589GRCh37Chr 6, 80878748: 80878748
78BCKDHBNM_000056.4(BCKDHB): c.748G> T (p.Glu250Ter)single nucleotide variantPathogenicrs398124592GRCh37Chr 6, 80910656: 80910656
79BCKDHBNM_000056.4(BCKDHB): c.752T> C (p.Val251Ala)single nucleotide variantPathogenicrs398124593GRCh37Chr 6, 80910660: 80910660
80BCKDHBNM_183050.3(BCKDHB): c.799C> T (p.Gln267Ter)single nucleotide variantLikely pathogenic, Pathogenicrs398124594GRCh37Chr 6, 80910707: 80910707
81BCKDHBNM_000056.4(BCKDHB): c.840+2T> Gsingle nucleotide variantPathogenicrs398124596GRCh37Chr 6, 80910750: 80910750
82BCKDHBNM_183050.3(BCKDHB): c.853C> T (p.Arg285Ter)single nucleotide variantLikely pathogenic, Pathogenicrs398124598GRCh37Chr 6, 80912831: 80912831
83BCKDHBNM_000056.4(BCKDHB): c.902T> G (p.Val301Gly)single nucleotide variantLikely pathogenicrs398124600GRCh37Chr 6, 80912880: 80912880
84BCKDHBNM_000056.4(BCKDHB): c.93_103delGGCGCGGGGCT (p.Ala32Phefs)deletionPathogenicrs398124601GRCh37Chr 6, 80816503: 80816513
85BCKDHBNM_000056.4(BCKDHB): c.952-1G> Asingle nucleotide variantPathogenicrs398124602GRCh37Chr 6, 80982851: 80982851
86BCKDHBNM_183050.3(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 15)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.9ACADM, HADHA
2
Show member pathways
9.9ACADM, HADHA
39.6BCAT1, BCAT2
4
Show member pathways
9.6ACADM, ACADVL, HADHA
5
Show member pathways
9.6ACADM, ACADVL, HADHA
6
Show member pathways
9.5BCKDHA, BCKDHB, DBT, DLD
7
Show member pathways
9.5BCKDHA, BCKDHB, DBT, DLD
8
Show member pathways
9.5BCKDHA, BCKDHB, DBT, DLD
99.5ACADM, HADHA, PAH
10
Show member pathways
9.2ACADM, ACADVL, DLD, HADHA
118.9ACADM, BCKDHA, BCKDHB, DBT, DLD, HADHA
12
Show member pathways
7.9ACADM, BCAT1, BCAT2, DLD, HADHA, OTC
13
Show member pathways
7.0BCAT1, BCAT2, BCKDHA, BCKDHB, BCKDK, DBT
14
Show member pathways
6.9ACADM, BCAT1, BCAT2, BCKDHA, BCKDHB, BCKDK
15
Show member pathways
5.6ACADM, 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 nucleoidGO:004264510.0ACADVL, DBT, HADHA
2mitochondrial alpha-ketoglutarate dehydrogenase complexGO:00059479.7BCKDHA, BCKDHB, BCKDK, DBT
3mitochondrial inner membraneGO:00057438.9ACADVL, HADHA, HMGCL, NIPSNAP1, OTC
4mitochondrial matrixGO:00057597.1ACADM, ACADVL, BCAT2, BCKDHA, BCKDHB, BCKDK
5mitochondrionGO:00057395.9ACADM, ACADVL, BCAT1, BCAT2, BCKDHA, BCKDHB

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1fatty acid beta-oxidation using acyl-CoA dehydrogenaseGO:003353910.4ACADM, ACADVL
2branched-chain amino acid biosynthetic processGO:000908210.0BCAT1, BCAT2
3valine biosynthetic processGO:000909910.0BCAT1, BCAT2
4aspartate biosynthetic processGO:000653210.0BCAT1, BCAT2
5leucine biosynthetic processGO:000909810.0BCAT1, BCAT2
6fatty acid beta-oxidationGO:00066359.8ACADM, ACADVL, HADHA
7liver developmentGO:00018899.7ACADM, HMGCL, OTC
8glyoxylate metabolic processGO:00464879.2BCKDHA, BCKDHB, DBT, DLD
9branched-chain amino acid catabolic processGO:00090837.7BCAT1, BCAT2, BCKDHA, BCKDHB, BCKDK, DBT

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1carboxy-lyase activityGO:001683110.4BCKDHA, BCKDHB
23-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activityGO:000386310.4BCKDHA, BCKDHB
3alpha-ketoacid dehydrogenase activityGO:000382610.4BCKDHA, BCKDHB
4acyl-CoA dehydrogenase activityGO:000399510.3ACADM, ACADVL
5oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptorGO:005289010.3ACADM, ACADVL
6L-valine transaminase activityGO:00526559.9BCAT1, BCAT2
7branched-chain-amino-acid transaminase activityGO:00040849.9BCAT1, BCAT2
8L-isoleucine transaminase activityGO:00526569.9BCAT1, BCAT2
9L-leucine transaminase activityGO:00526549.9BCAT1, BCAT2
10amino acid bindingGO:00165979.8OTC, PAH
11fatty-acyl-CoA bindingGO:00000629.8ACADM, ACADVL, HADHA, HMGCL
12flavin adenine dinucleotide bindingGO:00506609.1ACADM, ACADVL, DLD

Sources for Maple Syrup Urine Disease, Type Ii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet