MCID: MPL012
MIFTS: 54

Maple Syrup Urine Disease, Type Ii

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

Aliases & Classifications for Maple Syrup Urine Disease, Type Ii

MalaCards integrated aliases for Maple Syrup Urine Disease, Type Ii:

Name: Maple Syrup Urine Disease, Type Ii 54 13 69
Maple Syrup Urine Disease 12 23 50 24 25 56 71 29 52 42 14 69
Bckd Deficiency 23 50 24 25 56 71
Msud 23 50 24 25 56 71
Branched-Chain Ketoaciduria 23 24 25 56 71
Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency 50 25 71
Intermittent Maple Syrup Urine Disease 56 71 69
Maple Syrup Urine Disease Type 1a 50 24 29
Maple Syrup Urine Disease Type 1b 50 24 29
Classic Maple Syrup Urine Disease 56 71 69
Maple Syrup Urine Disease Type 2 50 24 29
Branched-Chain Ketoacid Dehydrogenase Deficiency 23 24
Thiamine-Responsive Maple Syrup Urine Disease 56 71
Intermediate Maple Syrup Urine Disease 71 69
Maple Syrup Urine Disease, Type Ia 54 69
Keto Acid Decarboxylase Deficiency 50 71
Branched Chain Ketoaciduria 12 50
Maple Syrup Disease 23 24
Msud Type Ib 50 71
Msud2 50 71
Msud Due to Deficiency of E1-Beta Subunit of Branched-Chain Alpha-Keto Acid Dehydrogenase Complex 50
Thiamine-Responsive Branched-Chain 2-Ketoacid Dehydrogenase Deficiency 56
Intermittent Branched-Chain 2-Ketoacid Dehydrogenase Deficiency 56
Lactic Acidosis, Congenital Infantile, Due to Lad Deficiency 69
Classic Branched-Chain 2-Ketoacid Dehydrogenase Deficiency 56
Branched-Chain 2-Ketoacid Dehydrogenase Deficiency 56
Dihydrolipoamide Dehydrogenase Deficiency 12
Nadh Cytochrome B5 Reductase Deficiency 69
Classic Branched-Chain Ketoaciduria 56
Thiamine-Responsive Bckd Deficiency 56
Classical Maple Syrup Urine Disease 29
Maple Syrup Urine Disease, Type Ib 54
Maple Syrup Urine Disease, Type 1b 69
Maple Syrup Urine Disease Type Ia 71
Maple Syrup Urine Disease Type Ib 71
Maple Syrup Urine Disease Type Ii 71
Intermittent Bckd Deficiency 56
Maple Syrup Urine Disease 1a 71
Maple Syrup Urine Disease 1b 71
Maple Syrup Urine Disease 2 71
Thiamine-Responsive Msud 56
Classic Bckd Deficiency 56
Intermittent Msud 56
Bckdh Deficiency 56
Ketoacidaemia 12
Msud Type 1a 50
Ketoacidemia 25
Classic Msud 56
Msud Type Ia 71
Msud Type Ii 71
Msud Type 2 50
Ketonemia 69
Msud1a 71
Msud1b 71

Characteristics:

Orphanet epidemiological data:

56
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;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
five clinical variants of msud unassociated with genotype
(1) classic severe (onset of symptoms 4 to 7 days of age)
(2) intermittent
(3) intermediate
(4) thiamine-responsive form
(5) dihydrolipoyl dehydrogenase (e3)-deficient
worldwide incidence of 1 in 185,000 live births
in inbred old order mennonite population of lancaster county, msud prevalence is 1/176 newborns
death in untreated children


HPO:

32
maple syrup urine disease, type ii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Inborn errors of metabolism


Summaries for Maple Syrup Urine Disease, Type Ii

UniProtKB/Swiss-Prot : 71 Maple syrup urine disease: A metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched- chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated.

MalaCards based summary : Maple Syrup Urine Disease, Type Ii, also known as maple syrup urine disease, is related to maple syrup urine disease, mild variant and intermediate maple syrup urine disease, and has symptoms including ataxia, seizures and global developmental delay. 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/superpathways are Metabolism and Viral mRNA Translation. Affiliated tissues include brain and testes, and related phenotypes are homeostasis/metabolism and integument

NIH Rare Diseases : 50 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 : 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. It is also characterized by poor feeding, vomiting, lack of energy (lethargy), abnormal movements, and delayed development. If untreated, maple syrup urine disease can lead to seizures, coma, and death.

OMIM : 54
The major clinical features of maple syrup urine disease are 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, resulting from a block in oxidative decarboxylation. There are 5 clinical subtypes of MSUD: the 'classic' neonatal severe form, an 'intermediate' form, an 'intermittent' form, a 'thiamine-responsive' form, and an 'E3-deficient with lactic acidosis' form (246900). All of these subtypes can be caused by mutations in any of the 4 genes mentioned above, except for the E3-deficient form, which is caused only by mutation in the E3 gene (Chuang and Shih, 2001). (248600)

Disease Ontology : 12 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.

GeneReviews: NBK1319

Related Diseases for Maple Syrup Urine Disease, Type Ii

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 52)
id Related Disease Score Top Affiliating Genes
1 maple syrup urine disease, mild variant 12.7
2 intermediate maple syrup urine disease 12.5
3 dihydrolipoamide dehydrogenase deficiency 12.1
4 amino acid metabolic disorder 11.2
5 cerebritis 10.5
6 phenylketonuria 10.5
7 encephalopathy 10.4
8 acrodermatitis 10.3
9 peritonitis 10.3
10 malignant cardiac peripheral nerve sheath neoplasm 10.2 HADHA HMGCL OTC
11 body dysmorphic disorder 10.2 BCKDHB BTD HMGCL
12 acrodermatitis enteropathica 10.2
13 enteropathica 10.2
14 glioma 10.2
15 hyperphosphatemic familial tumoral calcinosis, kl-related 10.1 BCAT1 BCAT2
16 glycogen storage disease due to liver phosphorylase kinase deficiency 10.1 BCKDHA BCKDHB DBT PPM1K
17 hypoglycemia 10.1
18 hypothyroidism 10.1
19 dermatitis 10.1
20 pancreatitis 10.1
21 brain injury 10.1
22 congenital hypothyroidism 10.1
23 homocystinuria 10.1
24 acyl-coa dehydrogenase, medium chain, deficiency of 10.0 BTD HADHA
25 scoliosis 10.0
26 intracranial hypertension 10.0
27 tetanus 10.0
28 tetralogy of fallot 10.0
29 tetanus neonatorum 10.0
30 albinism 10.0
31 argininosuccinic aciduria 10.0
32 hyperphenylalaninemia 10.0
33 status epilepticus 10.0
34 aminoaciduria 10.0
35 galactosemia 10.0
36 citrullinemia 10.0
37 lactic acidosis 10.0
38 lesch-nyhan syndrome 10.0
39 myoclonus 10.0
40 axonal neuropathy 10.0
41 spasticity 10.0
42 cerebral palsy 10.0
43 neuronitis 10.0
44 hepatitis 10.0
45 neuropathy 10.0
46 2-hydroxyglutaric aciduria 10.0
47 oculocutaneous albinism 10.0
48 2-methylacetoacetyl coa thiolase deficiency 9.9
49 noonan syndrome 1 9.7 BTD HADHA NIPSNAP1 PAH
50 cystinosis, ocular nonnephropathic 9.6 HADHA HMGCL MLYCD

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

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
ataxia
seizures
hypertonia
lethargy
more
Metabolic Features:
hypoglycemia
life-threatening metabolic decompensation
ketosis
lactic acidosis in e3-deficiency

Laboratory- Abnormalities:
elevated plasma branched chain amino acids (leucine, isoleucine, valine)
maple syrup urine odor
branched chain ketoaciduria (alpha-keto isocaproate, alpha-keto-beta methylisovalerate, alpha-keto isovalerate)
elevated plasma alloisoleucine
positive urine dnph screening test

Abdomen- Gastroin testinal:
feeding problems
vomiting

Abdomen- Pancreas:
pancreatitis


Clinical features from OMIM:

248600

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

56 32 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 frequent (33%) Frequent (79-30%) HP:0001251
2 seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
4 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
5 respiratory insufficiency 56 32 hallmark (90%) Very frequent (99-80%) HP:0002093
6 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
7 hemiplegia/hemiparesis 56 32 frequent (33%) Frequent (79-30%) HP:0004374
8 reduced tendon reflexes 56 32 hallmark (90%) Very frequent (99-80%) HP:0001315
9 abnormality of the voice 56 32 hallmark (90%) Very frequent (99-80%) HP:0001608
10 abnormality of the pharynx 56 32 hallmark (90%) Very frequent (99-80%) HP:0000600
11 elevated plasma branched chain amino acids 56 32 hallmark (90%) Very frequent (99-80%) HP:0008344
12 hypertonia 32 HP:0001276
13 lethargy 32 HP:0001254
14 lactic acidosis 32 HP:0003128
15 vomiting 32 HP:0002013
16 coma 32 HP:0001259
17 hallucinations 32 HP:0000738
18 cerebral edema 32 HP:0002181
19 hypoglycemia 32 HP:0001943
20 pancreatitis 32 HP:0001733
21 ketosis 32 HP:0001946
22 feeding difficulties in infancy 32 HP:0008872
23 growth abnormality 32 HP:0001507

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.9 BCAT2 BCKDK BTD DBT HADHA HMGCL
2 integument MP:0010771 9.5 NIPSNAP1 OTC PAH BCAT2 BCKDK BTD
3 renal/urinary system MP:0005367 9.17 BCAT2 BCKDK BTD DBT HADHA OTC

Drugs & Therapeutics for Maple Syrup Urine Disease, Type Ii

Search Clinical Trials , 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

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

id Genetic test Affiliating Genes
1 Maple Syrup Urine Disease Type 1a 29 24 BCKDHA
2 Maple Syrup Urine Disease 29 24
3 Maple Syrup Urine Disease Type 1b 29 24 BCKDHB
4 Maple Syrup Urine Disease Type 2 29 24 DBT
5 Classical Maple Syrup Urine Disease 29

Anatomical Context for Maple Syrup Urine Disease, Type Ii

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

39
Brain, Testes

Publications for Maple Syrup Urine Disease, Type Ii

Variations for Maple Syrup Urine Disease, Type Ii

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

71 (show all 19)
id Symbol AA change Variation ID SNP ID
1 BCKDHA p.Arg159Trp VAR_004968 rs769688327
2 BCKDHA p.Gln190Lys VAR_004969
3 BCKDHA p.Ala253Thr VAR_004970 rs199599175
4 BCKDHA p.Ile326Thr VAR_004971
5 BCKDHA p.Tyr413Cys VAR_004972
6 BCKDHA p.Tyr438Asn VAR_004973 rs137852870
7 BCKDHA p.Gly290Arg VAR_015101 rs137852871
8 BCKDHA p.Phe409Cys VAR_015102 rs137852872
9 BCKDHA p.Thr211Met VAR_069748 rs398123503
10 BCKDHA p.Ala220Val VAR_069749 rs375785084
11 BCKDHA p.Arg346Cys VAR_069750 rs182923857
12 BCKDHB p.His206Arg VAR_004974
13 BCKDHB p.Arg183Pro VAR_024851 rs28934895
14 BCKDHB p.Gly278Ser VAR_024852 rs386834233
15 BCKDHB p.Arg170His VAR_068348 rs371518124
16 BCKDHB p.Gln346Arg VAR_068349
17 DBT p.Phe276Cys VAR_004978
18 DBT p.Ile98Met VAR_015099
19 DBT p.Gly384Ser VAR_015100 rs12021720

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

6 (show top 50) (show all 115)
id Gene Variation Type Significance SNP ID Assembly Location
1 BCKDHA NM_000709.3(BCKDHA): c.745G> A (p.Gly249Ser) single nucleotide variant Pathogenic rs137852874 GRCh37 Chromosome 19, 41928167: 41928167
2 BCKDHA NM_000709.3(BCKDHA): c.1312T> A (p.Tyr438Asn) single nucleotide variant Pathogenic rs137852870 GRCh37 Chromosome 19, 41930487: 41930487
3 BCKDHA BCKDHA, 8-BP DEL, 887-894 deletion Pathogenic
4 BCKDHA NM_000709.3(BCKDHA): c.868G> A (p.Gly290Arg) single nucleotide variant Pathogenic rs137852871 GRCh37 Chromosome 19, 41928548: 41928548
5 BCKDHA NM_000709.3(BCKDHA): c.1226T> G (p.Phe409Cys) single nucleotide variant Pathogenic rs137852872 GRCh37 Chromosome 19, 41930401: 41930401
6 BCKDHA NM_000709.3(BCKDHA): c.793C> T (p.Arg265Trp) single nucleotide variant Pathogenic rs137852873 GRCh37 Chromosome 19, 41928215: 41928215
7 BCKDHA NM_000709.3(BCKDHA): c.929C> G (p.Thr310Arg) single nucleotide variant Pathogenic rs137852875 GRCh37 Chromosome 19, 41928609: 41928609
8 BCKDHA NM_000709.3(BCKDHA): c.792C> G (p.Cys264Trp) single nucleotide variant Pathogenic rs137852876 GRCh37 Chromosome 19, 41928214: 41928214
9 BCKDHA BCKDHA, 1-BP DEL, 117C deletion Pathogenic
10 BCKDHB NM_183050.3(BCKDHB): c.548G> C (p.Arg183Pro) single nucleotide variant Pathogenic/Likely pathogenic rs79761867 GRCh37 Chromosome 6, 80878662: 80878662
11 DBT NM_001918.3: c.48_171del124 deletion Pathogenic
12 DBT NM_001918.3(DBT): c.827T> G (p.Phe276Cys) single nucleotide variant Pathogenic rs121964999 GRCh37 Chromosome 1, 100680485: 100680485
13 DBT NM_001918.3(DBT): c.940_1017del78 deletion Pathogenic rs796052134 GRCh38 Chromosome 1, 100210693: 100210693
14 DBT NM_001918.3(DBT): c.75_76delAT (p.Cys26Trpfs) deletion Pathogenic rs768832921 GRCh37 Chromosome 1, 100706416: 100706417
15 DBT NM_001918.3(DBT): c.1282-4142_*(434_435)del deletion Pathogenic GRCh38 Chromosome 1, 100195820: 100200564
16 DBT NM_001918.3(DBT): c.581C> G (p.Ser194Ter) single nucleotide variant Pathogenic rs121965003 GRCh37 Chromosome 1, 100681730: 100681730
17 BCKDHB NM_183050.3(BCKDHB): c.1114G> T (p.Glu372Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834234 GRCh37 Chromosome 6, 81053456: 81053456
18 BCKDHB NM_183050.3(BCKDHB): c.832G> A (p.Gly278Ser) single nucleotide variant Pathogenic rs386834233 GRCh37 Chromosome 6, 80910740: 80910740
19 BCKDHA NM_000709.3(BCKDHA): c.1036C> T (p.Arg346Cys) single nucleotide variant Pathogenic rs182923857 GRCh37 Chromosome 19, 41928943: 41928943
20 BCKDHA NM_000709.3(BCKDHA): c.117delC (p.Arg40Glyfs) deletion Pathogenic rs398123489 GRCh37 Chromosome 19, 41916550: 41916550
21 BCKDHA NM_000709.3(BCKDHA): c.1234G> A (p.Val412Met) single nucleotide variant Pathogenic rs398123490 GRCh37 Chromosome 19, 41930409: 41930409
22 BCKDHA NM_000709.3(BCKDHA): c.1302C> A (p.Tyr434Ter) single nucleotide variant Pathogenic rs398123491 GRCh37 Chromosome 19, 41930477: 41930477
23 BCKDHA NM_000709.3(BCKDHA): c.1310_1311delAC (p.His437Leufs) deletion Pathogenic rs398123492 GRCh37 Chromosome 19, 41930485: 41930486
24 BCKDHA NM_000709.3(BCKDHA): c.1314C> A (p.Tyr438Ter) single nucleotide variant Pathogenic rs398123493 GRCh37 Chromosome 19, 41930489: 41930489
25 BCKDHA NM_000709.3(BCKDHA): c.14delT (p.Ile5Thrfs) deletion Pathogenic rs398123494 GRCh37 Chromosome 19, 41903746: 41903746
26 BCKDHA NM_000709.3(BCKDHA): c.288+1G> A single nucleotide variant Pathogenic rs398123496 GRCh37 Chromosome 19, 41916722: 41916722
27 BCKDHA NM_000709.3(BCKDHA): c.288+9C> T single nucleotide variant Pathogenic rs398123497 GRCh37 Chromosome 19, 41916730: 41916730
28 BCKDHA NM_000709.3(BCKDHA): c.370C> T (p.Arg124Trp) single nucleotide variant Likely pathogenic rs398123499 GRCh37 Chromosome 19, 41916909: 41916909
29 BCKDHA NM_000709.3(BCKDHA): c.632C> T (p.Thr211Met) single nucleotide variant Pathogenic rs398123503 GRCh37 Chromosome 19, 41925187: 41925187
30 BCKDHA NM_000709.3(BCKDHA): c.659C> T (p.Ala220Val) single nucleotide variant Pathogenic rs375785084 GRCh37 Chromosome 19, 41928081: 41928081
31 BCKDHA NM_000709.3(BCKDHA): c.740_741insT (p.Ala248Cysfs) insertion Pathogenic rs398123504 GRCh37 Chromosome 19, 41928163: 41928163
32 BCKDHA NM_000709.3(BCKDHA): c.761C> A (p.Ala254Asp) single nucleotide variant Pathogenic rs373713279 GRCh37 Chromosome 19, 41928183: 41928183
33 BCKDHA NM_000709.3(BCKDHA): c.853G> C (p.Ala285Pro) single nucleotide variant Pathogenic rs398123508 GRCh37 Chromosome 19, 41928275: 41928275
34 BCKDHA NM_000709.3(BCKDHA): c.905A> C (p.Asp302Ala) single nucleotide variant Pathogenic rs398123509 GRCh37 Chromosome 19, 41928585: 41928585
35 BCKDHA NM_000709.3(BCKDHA): c.909_910delGT (p.Phe304Cysfs) deletion Pathogenic rs398123510 GRCh37 Chromosome 19, 41928589: 41928590
36 BCKDHA NM_000709.3(BCKDHA): c.917delT (p.Val306Aspfs) deletion Pathogenic rs398123512 GRCh37 Chromosome 19, 41928597: 41928597
37 BCKDHA NM_000709.3(BCKDHA): c.964C> T (p.Gln322Ter) single nucleotide variant Pathogenic rs398123513 GRCh37 Chromosome 19, 41928644: 41928644
38 BCKDHA NM_000709.3(BCKDHA): c.979G> A (p.Glu327Lys) single nucleotide variant Pathogenic/Likely pathogenic rs398123515 GRCh37 Chromosome 19, 41928659: 41928659
39 DBT NM_001918.3(DBT): c.1291C> T (p.Arg431Ter) single nucleotide variant Pathogenic rs398123660 GRCh37 Chromosome 1, 100661969: 100661969
40 DBT NM_001918.3(DBT): c.1447T> C (p.Ter483Arg) single nucleotide variant Likely pathogenic rs398123663 GRCh37 Chromosome 1, 100661813: 100661813
41 DBT NM_001918.3(DBT): c.251G> A (p.Trp84Ter) single nucleotide variant Pathogenic rs398123665 GRCh37 Chromosome 1, 100700992: 100700992
42 DBT NM_001918.3(DBT): c.272_275delCAGT (p.Thr91Serfs) deletion Pathogenic rs398123666 GRCh37 Chromosome 1, 100696447: 100696450
43 DBT NM_001918.3(DBT): c.339_345delTTATGAT (p.Tyr114Glufs) deletion Pathogenic rs398123667 GRCh37 Chromosome 1, 100696377: 100696383
44 DBT NM_001918.3(DBT): c.360delA (p.Lys120Asnfs) deletion Pathogenic rs398123668 GRCh37 Chromosome 1, 100696362: 100696362
45 DBT NM_001918.3(DBT): c.51+1G> T single nucleotide variant Pathogenic rs398123669 GRCh37 Chromosome 1, 100715325: 100715325
46 DBT NM_001918.3(DBT): c.670G> T (p.Glu224Ter) single nucleotide variant Pathogenic/Likely pathogenic rs74103423 GRCh37 Chromosome 1, 100681641: 100681641
47 DBT NM_001918.3(DBT): c.773-2A> G single nucleotide variant Pathogenic rs398123674 GRCh37 Chromosome 1, 100680541: 100680541
48 DBT NM_001918.3(DBT): c.871C> T (p.Arg291Ter) single nucleotide variant Pathogenic rs398123675 GRCh37 Chromosome 1, 100680441: 100680441
49 DBT NM_001918.3(DBT): c.901C> T (p.Arg301Cys) single nucleotide variant Pathogenic/Likely pathogenic rs185492864 GRCh37 Chromosome 1, 100680411: 100680411
50 DBT NM_001918.3(DBT): c.939G> C (p.Lys313Asn) single nucleotide variant Pathogenic rs398123676 GRCh37 Chromosome 1, 100680373: 100680373

Expression for Maple Syrup Urine Disease, Type Ii

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

Pathways for Maple Syrup Urine Disease, Type Ii

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

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 BCAT1 BCAT2 BCKDHA BCKDHB BCKDK BTD
2
Show member pathways
13.56 BCAT1 BCAT2 BCKDHA BCKDHB BCKDK DBT
3
Show member pathways
12.17 BCAT1 BCAT2 DLD HADHA OTC PAH
4 11.69 BCAT1 DLD HMGCL OTC
5
Show member pathways
11.4 BCAT1 BCAT2 BCKDHA BCKDHB BCKDK DBT
6
Show member pathways
11.32 BCKDHA BCKDHB DBT DLD
7
Show member pathways
11.09 HADHA HMGCL
8
Show member pathways
11.04 BCKDHA BCKDHB DBT DLD
9
Show member pathways
11.03 HADHA MLYCD
10 10.94 BCKDHA BCKDHB DBT DLD HADHA MLYCD
11 10.73 BCAT1 BCAT2
12
Show member pathways
10.46 BCKDHA BCKDHB DBT DLD

GO Terms for Maple Syrup Urine Disease, Type Ii

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.83 BCAT1 BCAT2 BCKDHA BCKDHB BCKDK DBT
2 mitochondrial inner membrane GO:0005743 9.65 HADHA HMGCL NIPSNAP1 OTC PRODH2
3 mitochondrial alpha-ketoglutarate dehydrogenase complex GO:0005947 9.46 BCKDHA BCKDHB BCKDK DBT
4 mitochondrial matrix GO:0005759 9.4 BCAT2 BCKDHA BCKDHB BCKDK BTD DBT

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

id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.93 BCKDHA BCKDHB DLD HADHA PAH PRODH2
2 metabolic process GO:0008152 9.8 BCAT1 BCAT2 BCKDHA BCKDHB DBT HADHA
3 acyl-CoA metabolic process GO:0006637 9.48 HMGCL MLYCD
4 cellular amino acid biosynthetic process GO:0008652 9.46 BCAT1 BCAT2 OTC PAH
5 leucine biosynthetic process GO:0009098 9.43 BCAT1 BCAT2
6 branched-chain amino acid biosynthetic process GO:0009082 9.4 BCAT1 BCAT2
7 valine biosynthetic process GO:0009099 9.37 BCAT1 BCAT2
8 branched-chain amino acid metabolic process GO:0009081 9.32 BCAT1 BCAT2
9 cellular nitrogen compound metabolic process GO:0034641 9.26 BCKDHA BCKDHB DBT DLD
10 branched-chain amino acid catabolic process GO:0009083 9.23 BCAT1 BCAT2 BCKDHA BCKDHB BCKDK DBT

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.91 BCKDHA BCKDHB DLD HADHA PAH PRODH2
2 lyase activity GO:0016829 9.67 HADHA HMGCL MLYCD
3 NAD binding GO:0051287 9.51 DLD HADHA
4 transaminase activity GO:0008483 9.48 BCAT1 BCAT2
5 fatty-acyl-CoA binding GO:0000062 9.46 HADHA HMGCL
6 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity GO:0003863 9.4 BCKDHA BCKDHB
7 L-isoleucine transaminase activity GO:0052656 9.37 BCAT1 BCAT2
8 branched-chain-amino-acid transaminase activity GO:0004084 9.32 BCAT1 BCAT2
9 L-valine transaminase activity GO:0052655 9.26 BCAT1 BCAT2
10 L-leucine transaminase activity GO:0052654 9.16 BCAT1 BCAT2
11 alpha-ketoacid dehydrogenase activity GO:0003826 8.96 BCKDHA BCKDHB
12 carboxy-lyase activity GO:0016831 8.8 BCKDHA BCKDHB MLYCD

Sources for Maple Syrup Urine Disease, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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