MCID: MPL012
MIFTS: 56

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:
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 Ia 70 27
Maple Syrup Urine Disease Type Ib 70 27
Maple Syrup Urine Disease Type Ii 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
Thiamine-Responsive Bckd Deficiency 54
Classic Branched-Chain Ketoaciduria 54
Maple Syrup Urine Disease, Type 1b 68
Maple Syrup Urine Disease, Type Ib 52
Intermittent Bckd Deficiency 54
Maple Syrup Urine Disease 1b 70
Maple Syrup Urine Disease 1a 70
Maple Syrup Urine Disease 2 70
Thiamine-Responsive Msud 54
Classic Bckd Deficiency 54
Intermittent Msud 54
Bckdh Deficiency 54
Ketoacidaemia 11
Msud Type Ia 70
Classic Msud 54
Ketoacidemia 25
Msud Type 1a 48
Msud Type Ii 70
Msud Type 2 48
Ketonemia 68
Msud1a 70
Msud1b 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 abnormality of the pharynx, stereotypy and seizures. 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 beta-Alanine metabolism (KEGG) and Mitochondrial Fatty Acid Beta-Oxidation. 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: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 top 50)    (show all 61)
idRelated DiseaseScoreTop Affiliating Genes
1maple syrup urine disease, mild variant12.7
2intermediate maple syrup urine disease12.6
3dihydrolipoamide dehydrogenase deficiency12.1
4isovaleric acidemia11.2
5amino acid metabolic disorder11.2
6cerebritis10.5
7phenylketonuria10.5
8encephalopathy10.4
9chromosome 4q32.1-q32.2 triplication syndrome10.4ACADM, ACADVL
10acrodermatitis10.3
11peritonitis10.3
12was-related disorders10.2ACADM, ACADVL
13biotinidase deficiency10.2ACADM, BTD
14wagr syndrome10.2ACADVL, OTC
15mitochondrial complex iii deficiency, nuclear type 410.2ACADM, ACADVL
16acrodermatitis enteropathica10.2
17enteropathica10.2
18glioma10.2
19polyneuropathy-intellectual disability-acromicria-premature menopause syndrome10.2BCKDHA, BCKDHB, DBT, PPM1K
20propionicacidemia10.1ACADM, HMGCL, OTC
21dyskeratosis congenita, autosomal recessive 110.1ACADM, HMGCL
22brain injury10.1
23congenital hypothyroidism10.1
24hypothyroidism10.1
25dermatitis10.1
26pancreatitis10.1
27hypoglycemia10.1
28hyperinsulinemic hypoglycemia, familial, 410.1ACADM, ACADVL, HADHA
29atrial fibrillation, familial, 410.1ACADM, ACADVL, BTD
30body dysmorphic disorder10.1ACADM, BCKDHA, BCKDHB, HMGCL
31fga-related congenital afibrinogenemia10.1ACADM, ACADVL, HADHA
32atrophic glossitis10.0ACADM, HADHA, HMGCL, OTC
33argininosuccinic aciduria10.0
34tetralogy of fallot10.0
35galactosemia10.0
36citrullinemia10.0
37lesch-nyhan syndrome10.0
38cerebral palsy10.0
39hepatitis10.0
402-hydroxyglutaric aciduria10.0
41oculocutaneous albinism10.0
42scoliosis10.0
43tetanus10.0
44tetanus neonatorum10.0
45status epilepticus10.0
46lactic acidosis10.0
47axonal neuropathy10.0
48neuronitis10.0
49neuropathy10.0
50intracranial hypertension10.0

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:

 64 54 (show all 35)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the pharynx64 54 hallmark (90%) Very frequent (99-80%) HP:0000600
2 stereotypy64 hallmark (90%) HP:0000733
3 seizures64 54 hallmark (90%) Very frequent (99-80%) HP:0001250
4 muscular hypotonia64 54 hallmark (90%) Very frequent (99-80%) HP:0001252
5 reduced tendon reflexes64 54 hallmark (90%) Very frequent (99-80%) HP:0001315
6 flexion contracture64 hallmark (90%) HP:0001371
7 abnormality of the voice64 54 hallmark (90%) Very frequent (99-80%) HP:0001608
8 nausea and vomiting64 hallmark (90%) HP:0002017
9 respiratory insufficiency64 54 hallmark (90%) Very frequent (99-80%) HP:0002093
10 aminoaciduria64 hallmark (90%) HP:0003355
11 reduced consciousness/confusion64 hallmark (90%) HP:0004372
12 cognitive impairment64 hallmark (90%) HP:0100543
13 recurrent urinary tract infections64 typical (50%) HP:0000010
14 hallucinations64 typical (50%) HP:0000738
15 chorea64 typical (50%) HP:0002072
16 recurrent respiratory infections64 typical (50%) HP:0002205
17 incoordination64 typical (50%) HP:0002311
18 hemiplegia/hemiparesis64 54 typical (50%) Frequent (79-30%) HP:0004374
19 attention deficit hyperactivity disorder64 typical (50%) HP:0007018
20 pancreatitis64 occasional (7.5%) HP:0001733
21 reduced bone mineral density64 occasional (7.5%) HP:0004349
22 intellectual disability64 54 Very frequent (99-80%) HP:0001249
23 ataxia64 54 Frequent (79-30%) HP:0001251
24 lethargy64 HP:0001254
25 coma64 HP:0001259
26 hypertonia64 HP:0001276
27 growth abnormality64 HP:0001507
28 hypoglycemia64 HP:0001943
29 ketosis64 HP:0001946
30 vomiting64 HP:0002013
31 cerebral edema64 HP:0002181
32 lactic acidosis64 HP:0003128
33 elevated plasma branched chain amino acids64 54 Very frequent (99-80%) HP:0008344
34 feeding difficulties in infancy64 HP:0008872
35 global developmental delay54 Very frequent (99-80%)

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:00053709.1ACADM, ACADVL, BCKDK, HADHA, HMGCL, OTC
2MP:00107718.6BCAT2, BCKDK, BTD, DBT, NIPSNAP1, OTC
3MP:00053868.0ACADVL, BCAT2, BCKDK, BTD, DBT, HMGCL
4MP:00053678.0BCAT2, BCKDK, BTD, DBT, HADHA, OTC
5MP:00053767.1ACADM, 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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MalaCards organs/tissues related to Maple Syrup Urine Disease, Type Ii:

36
Bone

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 101)
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)SNVLikely pathogenic, 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)deletionLikely pathogenic, Pathogenicrs796051938GRCh38Chr 19, 41422178: 41422181
10BCKDHBNM_183050.3(BCKDHB): c.1022T> A (p.Ile341Asn)SNVLikely pathogenic, 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_183050.2: c.840+1G> TSNVLikely pathogenicChr na, -1: -1
29BCKDHBNM_183050.2: c.840+1G> ASNVLikely pathogenicChr na, -1: -1
30BCKDHBNM_183050.2: c.730delTdeletionLikely pathogenicChr na, -1: -1
31BCKDHANM_000709.3: c.137C> ASNVLikely pathogenicChr na, -1: -1
32BCKDHBNM_183050.2: c.97delCdeletionLikely pathogenicChr na, -1: -1
33DBTNM_001918.3: c.725C> GSNVLikely pathogenicChr na, -1: -1
34BCKDHBNM_183050.2: c.18_27del10deletionLikely pathogenicChr na, -1: -1
35BCKDHBNM_183050.2: c.79_89del11deletionLikely pathogenicChr na, -1: -1
36BCKDHBNM_183050.2: c.487G> TSNVPathogenicChr na, -1: -1
37BCKDHBNM_183050.2: c.410C> TSNVLikely pathogenicChr na, -1: -1
38BCKDHBNM_183050.2: c.853delCdeletionLikely pathogenicChr na, -1: -1
39BCKDHBNM_183050.2: c.139_149del11deletionLikely pathogenicChr na, -1: -1
40BCKDHBNM_183050.3(BCKDHB): c.1114G> T (p.Glu372Ter)SNVLikely pathogenic, Pathogenicrs386834234GRCh37Chr 6, 81053456: 81053456
41BCKDHBNM_183050.3(BCKDHB): c.832G> A (p.Gly278Ser)SNVPathogenicrs386834233GRCh37Chr 6, 80910740: 80910740
42BCKDHANM_000709.3(BCKDHA): c.1036C> T (p.Arg346Cys)SNVPathogenicrs182923857GRCh37Chr 19, 41928943: 41928943
43BCKDHANM_000709.3(BCKDHA): c.1037G> A (p.Arg346His)SNVLikely pathogenicrs398123486GRCh37Chr 19, 41928944: 41928944
44BCKDHANM_000709.3(BCKDHA): c.117delC (p.Arg40Glyfs)deletionPathogenicrs398123489GRCh37Chr 19, 41916550: 41916550
45BCKDHANM_000709.3(BCKDHA): c.1234G> A (p.Val412Met)SNVPathogenicrs398123490GRCh37Chr 19, 41930409: 41930409
46BCKDHANM_000709.3(BCKDHA): c.1302C> A (p.Tyr434Ter)SNVPathogenicrs398123491GRCh37Chr 19, 41930477: 41930477
47BCKDHANM_000709.3(BCKDHA): c.1310_1311delAC (p.His437Leufs)deletionPathogenicrs398123492GRCh37Chr 19, 41930485: 41930486
48BCKDHANM_000709.3(BCKDHA): c.1314C> A (p.Tyr438Ter)SNVPathogenicrs398123493GRCh37Chr 19, 41930489: 41930489
49BCKDHANM_000709.3(BCKDHA): c.14delT (p.Ile5Thrfs)deletionPathogenicrs398123494GRCh37Chr 19, 41903746: 41903746
50BCKDHANM_000709.3(BCKDHA): c.288+1G> ASNVPathogenicrs398123496GRCh37Chr 19, 41916722: 41916722
51BCKDHANM_000709.3(BCKDHA): c.288+9C> TSNVPathogenicrs398123497GRCh37Chr 19, 41916730: 41916730
52BCKDHANM_000709.3(BCKDHA): c.370C> T (p.Arg124Trp)SNVLikely pathogenicrs398123499GRCh37Chr 19, 41916909: 41916909
53BCKDHANM_000709.3(BCKDHA): c.632C> T (p.Thr211Met)SNVPathogenicrs398123503GRCh37Chr 19, 41925187: 41925187
54BCKDHANM_000709.3(BCKDHA): c.659C> T (p.Ala220Val)SNVPathogenicrs375785084GRCh37Chr 19, 41928081: 41928081
55BCKDHANM_000709.3(BCKDHA): c.741dupT (p.Ala248Cysfs)duplicationPathogenicrs398123504GRCh37Chr 19, 41928163: 41928163
56BCKDHANM_000709.3(BCKDHA): c.761C> A (p.Ala254Asp)SNVPathogenicrs373713279GRCh37Chr 19, 41928183: 41928183
57BCKDHANM_000709.3(BCKDHA): c.853G> C (p.Ala285Pro)SNVPathogenicrs398123508GRCh37Chr 19, 41928275: 41928275
58BCKDHANM_000709.3(BCKDHA): c.905A> C (p.Asp302Ala)SNVPathogenicrs398123509GRCh37Chr 19, 41928585: 41928585
59BCKDHANM_000709.3(BCKDHA): c.909_910delGT (p.Phe304Cysfs)deletionPathogenicrs398123510GRCh37Chr 19, 41928589: 41928590
60BCKDHANM_000709.3(BCKDHA): c.917delT (p.Val306Aspfs)deletionPathogenicrs398123512GRCh37Chr 19, 41928597: 41928597
61BCKDHANM_000709.3(BCKDHA): c.964C> T (p.Gln322Ter)SNVPathogenicrs398123513GRCh37Chr 19, 41928644: 41928644
62BCKDHANM_000709.3(BCKDHA): c.979G> A (p.Glu327Lys)SNVLikely pathogenic, Pathogenicrs398123515GRCh37Chr 19, 41928659: 41928659
63DBTNM_001918.3(DBT): c.1291C> T (p.Arg431Ter)SNVPathogenicrs398123660GRCh37Chr 1, 100661969: 100661969
64DBTNM_001918.3(DBT): c.1447T> C (p.Ter483Arg)SNVLikely pathogenicrs398123663GRCh37Chr 1, 100661813: 100661813
65DBTNM_001918.3(DBT): c.251G> A (p.Trp84Ter)SNVPathogenicrs398123665GRCh37Chr 1, 100700992: 100700992
66DBTNM_001918.3(DBT): c.272_275delCAGT (p.Thr91Serfs)deletionPathogenicrs398123666GRCh37Chr 1, 100696447: 100696450
67DBTNM_001918.3(DBT): c.339_345delTTATGAT (p.Tyr114Glufs)deletionPathogenicrs398123667GRCh37Chr 1, 100696377: 100696383
68DBTNM_001918.3(DBT): c.360delA (p.Lys120Asnfs)deletionPathogenicrs398123668GRCh37Chr 1, 100696362: 100696362
69DBTNM_001918.3(DBT): c.51+1G> TSNVPathogenicrs398123669GRCh37Chr 1, 100715325: 100715325
70DBTNM_001918.3(DBT): c.670G> T (p.Glu224Ter)SNVLikely pathogenic, Pathogenicrs74103423GRCh37Chr 1, 100681641: 100681641
71DBTNM_001918.3(DBT): c.773-2A> GSNVPathogenicrs398123674GRCh37Chr 1, 100680541: 100680541
72DBTNM_001918.3(DBT): c.871C> T (p.Arg291Ter)SNVPathogenicrs398123675GRCh37Chr 1, 100680441: 100680441
73DBTNM_001918.3(DBT): c.901C> T (p.Arg301Cys)SNVLikely pathogenic, Pathogenicrs185492864GRCh37Chr 1, 100680411: 100680411
74DBTNM_001918.3(DBT): c.939G> C (p.Lys313Asn)SNVPathogenicrs398123676GRCh37Chr 1, 100680373: 100680373
75BCKDHBNM_000056.4(BCKDHB): c.1016C> T (p.Ser339Leu)SNVPathogenicrs398124561GRCh37Chr 6, 80982916: 80982916
76BCKDHBNM_000056.4(BCKDHB): c.1046G> A (p.Cys349Tyr)SNVLikely pathogenicrs398124562GRCh37Chr 6, 81053388: 81053388
77BCKDHBNM_000056.4(BCKDHB): c.302G> A (p.Gly101Asp)SNVLikely pathogenicrs398124571GRCh37Chr 6, 80838905: 80838905
78BCKDHBNM_000056.4(BCKDHB): c.33_34delAC (p.Leu12Glnfs)deletionPathogenicrs398124572GRCh37Chr 6, 80816443: 80816444
79BCKDHBNM_000056.4(BCKDHB): c.342T> G (p.Tyr114Ter)SNVLikely pathogenic, Pathogenicrs398124573GRCh37Chr 6, 80838945: 80838945
80BCKDHBNM_000056.4(BCKDHB): c.344-1G> ASNVPathogenicrs398124574GRCh37Chr 6, 80877394: 80877394
81BCKDHBNM_000056.4(BCKDHB): c.479T> G (p.Ile160Ser)SNVLikely pathogenicrs398124576GRCh37Chr 6, 80878593: 80878593
82BCKDHBNM_000056.4(BCKDHB): c.488A> T (p.Glu163Val)SNVPathogenicrs398124577GRCh37Chr 6, 80878602: 80878602
83BCKDHBNM_000056.4(BCKDHB): c.508C> A (p.Arg170Ser)SNVLikely pathogenicrs398124581GRCh37Chr 6, 80878622: 80878622
84BCKDHBNM_000056.4(BCKDHB): c.508C> G (p.Arg170Gly)SNVLikely pathogenicrs398124581GRCh37Chr 6, 80878622: 80878622
85BCKDHBNM_000056.4(BCKDHB): c.508C> T (p.Arg170Cys)SNVLikely pathogenicrs398124581GRCh37Chr 6, 80878622: 80878622
86BCKDHBNM_000056.4(BCKDHB): c.509G> A (p.Arg170His)SNVLikely pathogenic, Pathogenicrs371518124GRCh37Chr 6, 80878623: 80878623
87BCKDHBNM_000056.4(BCKDHB): c.526A> T (p.Asn176Tyr)SNVPathogenicrs398124582GRCh37Chr 6, 80878640: 80878640
88BCKDHBNM_000056.4(BCKDHB): c.547C> T (p.Arg183Trp)SNVLikely pathogenicrs149766077GRCh37Chr 6, 80878661: 80878661
89BCKDHBNM_000056.4(BCKDHB): c.592_593delCA (p.Gln198Glufs)deletionPathogenicrs398124586GRCh37Chr 6, 80878706: 80878707
90BCKDHBNM_000056.4(BCKDHB): c.595_596delAG (p.Pro200Terfs)deletionPathogenicrs398124587GRCh37Chr 6, 80878709: 80878710
91BCKDHBNM_000056.4(BCKDHB): c.633+1G> ASNVPathogenicrs398124589GRCh37Chr 6, 80878748: 80878748
92BCKDHBNM_000056.4(BCKDHB): c.748G> T (p.Glu250Ter)SNVPathogenicrs398124592GRCh37Chr 6, 80910656: 80910656
93BCKDHBNM_000056.4(BCKDHB): c.752T> C (p.Val251Ala)SNVPathogenicrs398124593GRCh37Chr 6, 80910660: 80910660
94BCKDHBNM_183050.3(BCKDHB): c.799C> T (p.Gln267Ter)SNVLikely pathogenic, Pathogenicrs398124594GRCh37Chr 6, 80910707: 80910707
95BCKDHBNM_000056.4(BCKDHB): c.840+2T> GSNVLikely pathogenic, Pathogenicrs398124596GRCh37Chr 6, 80910750: 80910750
96BCKDHBNM_183050.3(BCKDHB): c.853C> T (p.Arg285Ter)SNVLikely pathogenic, Pathogenicrs398124598GRCh37Chr 6, 80912831: 80912831
97BCKDHBNM_000056.4(BCKDHB): c.902T> G (p.Val301Gly)SNVLikely pathogenicrs398124600GRCh37Chr 6, 80912880: 80912880
98BCKDHBNM_000056.4(BCKDHB): c.93_103delGGCGCGGGGCT (p.Ala32Phefs)deletionPathogenicrs398124601GRCh37Chr 6, 80816503: 80816513
99BCKDHBNM_000056.4(BCKDHB): c.952-1G> ASNVPathogenicrs398124602GRCh37Chr 6, 80982851: 80982851
100BCKDHBNM_183050.3(BCKDHB): c.970C> T (p.Arg324Ter)SNVLikely pathogenic, Pathogenicrs398124603GRCh37Chr 6, 80982870: 80982870
101BCKDHBNM_000056.4(BCKDHB): c.974T> G (p.Leu325Arg)SNVLikely pathogenicrs398124604GRCh37Chr 6, 80982874: 80982874

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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.9ACADM, HADHA
2
Show member pathways
9.5ACADM, ACADVL, HADHA
3
Show member pathways
9.5ACADM, ACADVL, HADHA
4
Show member pathways
9.4BCKDHA, BCKDHB, DBT, DLD
5
Show member pathways
9.4BCKDHA, BCKDHB, DBT, DLD
69.4BCKDHA, BCKDHB, DBT, DLD
79.4ACADM, HADHA, PAH
89.3BCAT1, BCAT2
9
Show member pathways
9.0ACADM, ACADVL, DLD, HADHA
108.8ACADM, BCKDHA, BCKDHB, DBT, DLD, HADHA
11
Show member pathways
7.5ACADM, BCAT1, BCAT2, DLD, HADHA, OTC
12
Show member pathways
6.5BCAT1, BCAT2, BCKDHA, BCKDHB, BCKDK, DBT
13
Show member pathways
6.4ACADM, BCAT1, BCAT2, BCKDHA, BCKDHB, BCKDK
14
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 nucleoidGO:004264510.3ACADVL, DBT, HADHA
2mitochondrial alpha-ketoglutarate dehydrogenase complexGO:00059479.9BCKDHA, BCKDHB, BCKDK, DBT
3mitochondrial inner membraneGO:00057439.6ACADVL, HADHA, HMGCL, NIPSNAP1, OTC
4mitochondrial matrixGO:00057597.4ACADM, ACADVL, BCAT2, BCKDHA, BCKDHB, BCKDK
5mitochondrionGO:00057395.4ACADM, 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:003353910.3ACADM, ACADVL
2fatty acid beta-oxidationGO:000663510.0ACADM, ACADVL, HADHA
3aspartate biosynthetic processGO:00065329.9BCAT1, BCAT2
4branched-chain amino acid biosynthetic processGO:00090829.9BCAT1, BCAT2
5glyoxylate metabolic processGO:00464879.9BCKDHA, BCKDHB, DBT, DLD
6leucine biosynthetic processGO:00090989.8BCAT1, BCAT2
7liver developmentGO:00018899.5ACADM, HMGCL, OTC
8valine biosynthetic processGO:00090999.3BCAT1, BCAT2
9branched-chain amino acid catabolic processGO:00090837.8BCAT1, BCAT2, BCKDHA, BCKDHB, BCKDK, DBT

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
13-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activityGO:000386310.6BCKDHA, BCKDHB
2alpha-ketoacid dehydrogenase activityGO:000382610.6BCKDHA, BCKDHB
3carboxy-lyase activityGO:001683110.6BCKDHA, BCKDHB
4acyl-CoA dehydrogenase activityGO:000399510.4ACADM, ACADVL
5amino acid bindingGO:001659710.3OTC, PAH
6NAD bindingGO:005128710.0DLD, HADHA
7branched-chain-amino-acid transaminase activityGO:00040849.9BCAT1, BCAT2
8flavin adenine dinucleotide bindingGO:00506609.8ACADM, ACADVL, DLD
9fatty-acyl-CoA bindingGO:00000629.8ACADM, ACADVL, HADHA, HMGCL
10oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptorGO:00528909.8ACADM, ACADVL
11L-isoleucine transaminase activityGO:00526569.8BCAT1, BCAT2
12L-leucine transaminase activityGO:00526549.8BCAT1, BCAT2
13L-valine transaminase activityGO:00526559.8BCAT1, BCAT2

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