MCID: MPL012
MIFTS: 58

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:
49OMIM, 11diseasecard, 65UMLS, 10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 27ICD10, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards 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 67 36 24 65
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
Branched-Chain Ketoacid Dehydrogenase Deficiency 21 22
Intermediate Maple Syrup Urine Disease 67 65
Intermittent Maple Syrup Urine Disease 67 65
Maple Syrup Urine Disease, Type Ia 49 65
Keto Acid Decarboxylase Deficiency 45 67
Maple Syrup Urine Disease Type Ii 67 24
Maple Syrup Urine Disease Type Ia 67 24
Maple Syrup Urine Disease Type Ib 67 24
Maple Syrup Urine Disease Type 1b 45 22
Maple Syrup Urine Disease Type 1a 45 22
Classic Maple Syrup Urine Disease 67 65
Maple Syrup Urine Disease Type 2 45 22
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
 
Lactic Acidosis, Congenital Infantile, Due to Lad Deficiency 65
Branched-Chain 2-Ketoacid Dehydrogenase Deficiency 51
Maple Syrup Urine Disease, Thiamine Responsive 65
Thiamine-Responsive Maple Syrup Urine Disease 67
Dihydrolipoamide Dehydrogenase Deficiency 10
Nadh Cytochrome B5 Reductase Deficiency 65
Maple Syrup Urine Disease, Type Ib 49
Maple Syrup Urine Disease, Type 1b 65
Maple Syrup Urine Disease 1b 67
Maple Syrup Urine Disease 1a 67
Maple Syrup Urine Disease 2 67
Bckdh Deficiency 51
Ketoacidaemia 10
Ketoacidemia 23
Msud Type 1a 45
Msud Type Ia 67
Msud Type Ii 67
Msud Type 2 45
Msud Type 3 45
Ketonemia 65
Msud1b 67
Msud1a 67

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

HPO:

61
maple syrup urine disease, type ii:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 248600
Disease Ontology10 DOID:9269
ICD1027 E71.0
MeSH36 D008375
NCIt42 C34806
SNOMED-CT59 27718001
Orphanet51 511
UMLS via Orphanet66 C0024776, C0268576
ICD10 via Orphanet28 E71.0
MESH via Orphanet37 D008375
UMLS65 C0024776, C0268193, C3492932 C1855371, C0235430, C0268568, C1621920, C0268569, C0751285, C1855369, C2930990, more

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 and Beta oxidation of octanoyl-CoA to hexanoyl-CoA. Affiliated tissues include bone and lung, and related mouse phenotypes are liver/biliary system and muscle.

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.

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

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.

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 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 37)
idRelated DiseaseScoreTop Affiliating Genes
1intermittent maple syrup urine disease35.0BCKDHA, BCKDHB, DBT
2thiamine-responsive maple syrup urine disease34.7BCKDHA, BCKDHB, DBT, PPM1K
3maple syrup urine disease, mild variant13.1
4classic maple syrup urine disease13.0
5intermediate maple syrup urine disease12.9
6dihydrolipoamide dehydrogenase deficiency12.9
7glomerulosclerosis10.4
8autosomal dominant prognathism10.4BCKDHA, BCKDHB, DBT
946,xx disorder of sex development-anorectal anomalies syndrome10.4BCKDHA, BCKDHB, DBT
10hyperinsulinemic hypoglycemia, familial, 410.2ACADVL, HADHA
11was-related disorders10.2ACADM, ACADVL
12deafness, autosomal dominant 2510.2ACADM, ACADS
13lichen nitidus10.2ACADM, BTD, OTC
14propionicacidemia10.2ACADM, HMGCL, OTC
15myopathy, myofibrillar, 210.2ACADS, HMGCL
16testicular cancer10.2
17mitochondrial disorders10.2
18malakoplakia10.2
19usher syndrome, type 1g10.2ACADM, BTD, OTC
20lymphangioma10.1ACADM, HMGCL, OTC
21biotinidase deficiency10.1ACADM, BTD
22deafness, autosomal dominant 1010.1ACADS, OTC
23leukemia, chronic lymphocytic 310.1ACADS, OTC
24dyskeratosis congenita, autosomal recessive 110.1ACADM, ACADS, HMGCL
25vocal cord scarring10.1ACADS, ACADVL, OTC
26external pathological resorption10.1ACADM, HADHA, HMGCL, OTC
27long qt syndrome 610.0ACADM, ACADVL, BTD, HMGCL
28hyperphosphatasia with mental retardation syndrome10.0BCAT1, BCAT2
29mast-cell leukemia10.0ACADM, BCKDHB, PAH
30chromosome 4q32.1-q32.2 triplication syndrome9.9ACADM, ACADS, ACADVL, HMGCL
31fbxl4-related mitochondrial dna depletion syndrome, encephalomyopathic form9.9ACADM, ACADS, ACADVL, HADHA
32survival motor neuron spinal muscular atrophy9.9ACADM, ACADS, BCKDHB, BTD, HMGCL
33acyl-coa dehydrogenase, medium chain, deficiency of9.7ACADM, ACADS, ACADVL, BTD, HADHA
34transmitted_by9.7ACADM, ACADVL, HADHA
35noonan syndrome 19.7ACADM, BTD, NIPSNAP1, PAH
36aceruloplasminemia9.5ACADM, ACADS, ACADVL, HMGCL, PAH
37maple syrup urine disease, type ii6.6ACADM, ACADS, ACADVL, BCAT1, BCAT2, BCKDHA

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 38)
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 feeding difficulties in infancy HP:0008872
23 elevated plasma branched chain amino acids HP:0008344
24 lactic acidosis HP:0003128
25 cerebral edema HP:0002181
26 vomiting HP:0002013
27 ketosis HP:0001946
28 hypoglycemia HP:0001943
29 pancreatitis HP:0001733
30 growth abnormality HP:0001507
31 hypertonia HP:0001276
32 coma HP:0001259
33 lethargy HP:0001254
34 muscular hypotonia HP:0001252
35 ataxia HP:0001251
36 seizures HP:0001250
37 intellectual disability HP:0001249
38 hallucinations HP:0000738

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
2 Maple Syrup Urine Disease Type 1a22 BCKDHA
3 Maple Syrup Urine Disease Type 1b22 BCKDHB
4 Maple Syrup Urine Disease Type 222 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
Bone, Lung

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:00053708.4ACADM, ACADS, ACADVL, BCKDK, HADHA, HMGCL
2MP:00053698.0ACADM, ACADS, ACADVL, BCKDK, BTD, HADHA
3MP:00107717.6ACADS, BCAT2, BCKDK, BTD, DBT, NIPSNAP1
4MP:00053677.6ACADS, BCAT2, BCKDK, BTD, DBT, HADHA
5MP:00053866.9ACADS, ACADVL, BCAT2, BCKDK, BTD, DBT
6MP:00107686.7ACADM, ACADS, ACADVL, BCAT2, BCKDK, DBT
7MP:00053765.8ACADM, ACADS, ACADVL, BCAT2, BCKDK, BTD

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 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 variantPathogenicrs869312126GRCh37Chr 6, 80838896: 80838896
15BCKDHBNM_183050.3(BCKDHB): c.554C> T (p.Pro185Leu)single nucleotide variantPathogenicrs148905512GRCh37Chr 6, 80878668: 80878668
16BCKDHBNM_183050.3(BCKDHB): c.197-2A> Gsingle nucleotide variantPathogenicrs869312127GRCh37Chr 6, 80837262: 80837262
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 variantPathogenicrs869312130GRCh37Chr 6, 80877452: 80877452
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 18)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.9
2
Show member pathways
9.9ACADM, HADHA
3
Show member pathways
9.5ACADS, HADHA, HMGCL
49.5ACADM, ACADVL, HADHA
5
Show member pathways
9.3BCKDHA, BCKDHB, DBT, DLD
6
Show member pathways
9.3BCKDHA, BCKDHB, DBT, DLD
7
Show member pathways
9.3BCKDHA, BCKDHB, DBT, DLD
89.3BCAT1, BCAT2
99.2ACADM, HADHA, PAH
10
Show member pathways
9.1ACADM, ACADS, ACADVL, HADHA
11
Show member pathways
9.1ACADM, ACADS, ACADVL, HADHA
12
Show member pathways
8.8ACADM, ACADS, ACADVL, HADHA, HMGCL
138.7ACADM, BCKDHA, BCKDHB, DBT, DLD, HADHA
14
Show member pathways
8.6ACADM, ACADS, ACADVL, DLD, HADHA
15
Show member pathways
6.9ACADM, ACADS, BCAT1, BCAT2, DLD, HADHA
16
Show member pathways
6.4BCAT1, BCAT2, BCKDHA, BCKDHB, BCKDK, DBT
17
Show member pathways
6.1ACADM, ACADS, BCAT1, BCAT2, BCKDHA, BCKDHB
18
Show member pathways
4.6ACADM, ACADS, ACADVL, BCAT1, BCAT2, BCKDHA

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:00059479.3BCKDHA, BCKDHB, BCKDK, DBT

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:003353910.4ACADS, ACADVL
2response to starvationGO:004259410.3ACADM, HMGCL
3glyoxylate metabolic processGO:00464879.9BCKDHB, DLD
4liver developmentGO:00018899.9ACADM, HMGCL, OTC
5branched-chain amino acid biosynthetic processGO:00090829.9BCAT1, BCAT2
6cellular lipid metabolic processGO:00442559.7ACADM, ACADVL, HADHA
7metabolic processGO:00081528.4ACADVL, BCAT2, BTD, DBT, PAH, PPM1K
8cellular nitrogen compound metabolic processGO:00346417.9BCAT1, BCAT2, DLD, OTC, PAH, PPM1K
9oxidation-reduction processGO:00551147.9ACADM, ACADS, ACADVL, DLD, PAH

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

idNameGO IDScoreTop Affiliating Genes
13-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activityGO:000386310.2BCKDHA, BCKDHB
2electron carrier activityGO:00090559.8ACADM, ACADVL
3fatty-acyl-CoA bindingGO:00000629.7ACADS, ACADVL, HADHA
4oxidoreductase activity, acting on the CH-CH group of donorsGO:00166279.4ACADM, ACADS
5L-isoleucine transaminase activityGO:00526569.4BCAT1, BCAT2

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