MGCA1
MCID: 3MT015
MIFTS: 51

3-Methylglutaconic Aciduria, Type I (MGCA1)

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

Aliases & Classifications for 3-Methylglutaconic Aciduria, Type I

MalaCards integrated aliases for 3-Methylglutaconic Aciduria, Type I:

Name: 3-Methylglutaconic Aciduria, Type I 56 25 13 39
3-Methylglutaconyl-Coa Hydratase Deficiency 56 12 52 25 58 73
3-Methylglutaconic Aciduria Type 1 12 58 29 6 15 71
Mga1 56 12 25 58 73
3mg-Coa Hydratase Deficiency 12 58 73
Mga Type I 12 52 73
Mgca1 56 25 73
3 Methylglutaconyl Coa Hydratase Deficiency 74 52
3-Mg-Coa-Hydratase Deficiency 56 25
Mga, Type I 56 25
Megaloblastic Anemia Due to Inborn Errors of Metabolism 71
3-Alpha-Methylglutaconyl-Coa Hydratase Deficiency 73
3 Alpha Methylglutaconic Aciduria Type I 52
3-Alpha-Methylglutaconic Aciduria Type 1 73
3-@methylglutaconic Aciduria, Type I 71
Primary 3-Methylglutaconic Aciduria 25
3-Methylglutaconic Aciduria Type I 12
3 Methylglutaconic Aciduria Type 1 52
3-Methylglutaconic Aciduria 1 73
3mg Coa Hydratase Deficiency 52
Mga, Type I; Mga1 56
3-Mgca Type I 52
Auh Defect 25

Characteristics:

Orphanet epidemiological data:

58
3-methylglutaconic aciduria type 1
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
highly variable phenotype
adult onset of symptoms has been reported
some patients have no clinical symptoms and are detected by routine newborn screening


HPO:

31
3-methylglutaconic aciduria, type i:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for 3-Methylglutaconic Aciduria, Type I

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 67046 Definition 3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia . Epidemiology The disorder is very rare with less than 20 cases reported in the literature. Clinical description Clinical manifestations usually become apparent in the neonatal period or during infancy but the diagnosis may not be made until childhood. Some of the reported patients also displayed hypoglycaemia, spastic quadriparesis, microcephaly , progressive neurological deficit, seizures , vomiting, atrophy of the basal ganglia, severe hypotonia and hepatomegly. Etiology The syndrome is caused by mutations in the AUH gene (chromosome 9) encoding 3-methylglutaconyl-CoA hydratase, an enzyme involved in leucine degradation. Diagnostic methods As the clinical picture is variable and nonspecific, diagnosis can be made by assay of 3-methylglutaconyl-CoA hydratase activity in fibroblasts or leukocytes , quantitative analysis of urinary organic acid excretion or, more recently, analysis of bodily fluids by NMR spectroscopy. Differential diagnosis Patients with 3-MGA type I can be distinguished from those with other forms of 3-MGA (types II, III and IV; see these terms) by the distinctive pattern of metabolite excretion: 3-methylglutaconic acid levels are highly elevated (higher than those detected in other forms of 3-MGA) whereas methylglutaric acid levels are usually only slightly elevated, and there is a high level of 3-hydroxyisovaleric acid excretion (not present in other forms of 3-MGA). Antenatal diagnosis Prenatal diagnosis should be possible through detection of high levels of 3-hydroxyisovaleric acid in the amniotic fluid or through enzyme analysis of cultured amniocytes . Genetic counseling The syndrome is inherited as an autosomal recessive trait . Management and treatment Treatment is largely symptomatic but dietary management with a modest leucine restriction and supplementation with L-carnitine may be beneficial in some cases. Visit the Orphanet disease page for more resources.

MalaCards based summary : 3-Methylglutaconic Aciduria, Type I, also known as 3-methylglutaconyl-coa hydratase deficiency, is related to imerslund-grasbeck syndrome 1 and megaloblastic anemia, and has symptoms including athetosis and cerebellar ataxia. An important gene associated with 3-Methylglutaconic Aciduria, Type I is AUH (AU RNA Binding Methylglutaconyl-CoA Hydratase), and among its related pathways/superpathways are Diseases of metabolism and Vitamin digestion and absorption. Affiliated tissues include brain, eye and skeletal muscle, and related phenotypes are failure to thrive and 3-methylglutaconic aciduria

Disease Ontology : 12 A 3-methylglutaconic aciduria that has material basis in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22.

Genetics Home Reference : 25 3-methylglutaconyl-CoA hydratase deficiency is an inherited condition that causes neurological problems. Beginning in infancy to early childhood, children with this condition often have delayed development of mental and motor skills (psychomotor delay), speech delay, involuntary muscle cramping (dystonia), and spasms and weakness of the arms and legs (spastic quadriparesis). Affected individuals can also have optic atrophy, which is the degeneration (atrophy) of nerve cells that carry visual information from the eyes to the brain. In some cases, signs and symptoms of 3-methylglutaconyl-CoA hydratase deficiency begin in adulthood, often in a person's twenties or thirties. These individuals have damage to a type of brain tissue called white matter (leukoencephalopathy), which likely contributes to progressive problems with speech (dysarthria), difficulty coordinating movements (ataxia), stiffness (spasticity), optic atrophy, and a decline in intellectual function (dementia). Affected individuals who show symptoms of 3-methylglutaconyl-CoA hydratase deficiency in childhood often go on to develop leukoencephalopathy and other neurological problems in adulthood. All people with 3-methylglutaconyl-CoA hydratase deficiency accumulate large amounts of a substance called 3-methylglutaconic acid in their body fluids. As a result, they have elevated levels of acid in their blood (metabolic acidosis) and excrete large amounts of acid in their urine (aciduria). 3-methylglutaconyl-CoA hydratase deficiency is one of a group of metabolic disorders that can be diagnosed by the presence of increased levels 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with 3-methylglutaconyl-CoA hydratase deficiency also have high urine levels of another acid called 3-methylglutaric acid.

OMIM : 56 3-Methylglutaconic aciduria type I (MGCA1) is a rare autosomal recessive disorder of leucine catabolism. The metabolic landmark is urinary excretion of 3-methylglutaconic acid (3-MGA) and its derivatives 3-methylglutaric acid (3-MG) and 3-hydroxyisovaleric acid (3-HIVA). Two main presentations have been described: one with onset in childhood associated with the nonspecific finding of psychomotor retardation, and the other with onset in adulthood of a progressive neurodegenerative disorder characterized by ataxia, spasticity, and sometimes dementia; these patients develop white matter lesions in the brain. However, some asymptomatic pediatric patients have been identified by newborn screening and show no developmental abnormalities when reexamined later in childhood (summary by Wortmann et al., 2010). (250950)

UniProtKB/Swiss-Prot : 73 3-methylglutaconic aciduria 1: An inborn error of leucine metabolism. It leads to an autosomal recessive syndrome with variable clinical phenotype, ranging from delayed speech development to severe psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. MGCA1 can be distinguished from other forms of MGCA by the pattern of metabolite excretion: 3-methylglutaconic acid levels are higher than those detected in other forms, whereas methylglutaric acid levels are usually only slightly elevated and there is a high level of 3- hydroxyisovaleric acid excretion (not present in other MGCA forms).

Wikipedia : 74 3-Methylglutaconic aciduria (MGA) is any of at least five metabolic disorders that impair the body's... more...

Related Diseases for 3-Methylglutaconic Aciduria, Type I

Diseases in the 3-Methylglutaconic Aciduria, Type Iii family:

3-Methylglutaconic Aciduria, Type I 3-Methylglutaconic Aciduria, Type Iv
3-Methylglutaconic Aciduria, Type V 3-Methylglutaconic Aciduria, Type Vii
3-Methylglutaconic Aciduria, Type Viii 3-Methylglutaconic Aciduria, Type Ix
3-Methylglutaconic Aciduria

Diseases related to 3-Methylglutaconic Aciduria, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 imerslund-grasbeck syndrome 1 33.2 CUBN AMN
2 megaloblastic anemia 32.6 CUBN CBLIF AMN
3 3-methylglutaconic aciduria, type v 32.5 TMEM70 SERAC1 OPA3 DNAJC19 AUH
4 3-methylglutaconic aciduria, type vii 32.1 GGA2 GGA1 CUBN CLPB
5 3-methylglutaconic aciduria, type iv 31.8 TMEM70 SERAC1 OPA3 GGA2 GGA1 FBXO3
6 3-methylglutaconic aciduria, type iii 30.7 TMEM70 SERAC1 OPA3 GGA2 DNAJC19 AUH
7 barth syndrome 30.5 TMEM70 SERAC1 OPA3 DNAJC19
8 organic acidemia 30.5 TMEM70 SERAC1 OPA3 DNAJC19 AUH
9 3-methylglutaconic aciduria 30.3 TMEM70 SERAC1 OPA3 MT-TL1 GGA2 EHHADH
10 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 30.3 TMEM70 SERAC1 OPA3 DNAJC19 CLPB AUH
11 metabolic acidosis 10.4
12 hypotonia 10.4
13 congenital intrinsic factor deficiency 10.3 CUBN CBLIF AMN
14 vitamin metabolic disorder 10.3 CUBN CBLIF AMN
15 febrile seizures 10.3
16 vitamin b12 deficiency 10.3 CUBN CBLIF AMN
17 sengers syndrome 10.3 TMEM70 SERAC1 DNAJC19
18 amino acid metabolic disorder 10.2 SERAC1 OPA3 DNAJC19
19 tropical sprue 10.2 CBLIF AMN
20 ataxia and polyneuropathy, adult-onset 10.2
21 abdominal obesity-metabolic syndrome 1 10.2
22 autosomal recessive disease 10.2
23 visual epilepsy 10.2
24 quadriplegia 10.2
25 inherited metabolic disorder 10.2
26 learning disability 10.2
27 clpb deficiency 10.2
28 seizure disorder 10.2
29 spasticity 10.2
30 neurometabolic disease 10.2
31 optic atrophy 3, autosomal dominant 10.1
32 tmem70 defect 10.1
33 mitochondrial metabolism disease 10.1 TMEM70 SERAC1 OPA3 MT-TL1 DNAJC19
34 donnai-barrow syndrome 10.1 CUBN AMN

Graphical network of the top 20 diseases related to 3-Methylglutaconic Aciduria, Type I:



Diseases related to 3-Methylglutaconic Aciduria, Type I

Symptoms & Phenotypes for 3-Methylglutaconic Aciduria, Type I

Human phenotypes related to 3-Methylglutaconic Aciduria, Type I:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 3-methylglutaconic aciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003535
3 global developmental delay 58 31 occasional (7.5%) Frequent (79-30%) HP:0001263
4 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
5 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
6 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
7 hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001943
8 dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001332
9 spastic tetraparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001285
10 coma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001259
11 progressive cerebellar ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002073
12 abnormality of the basal ganglia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002134
13 seizure 31 occasional (7.5%) HP:0001250
14 psychomotor retardation 31 very rare (1%) HP:0025356
15 seizures 58 Occasional (29-5%)
16 optic atrophy 31 HP:0000648
17 cognitive impairment 31 HP:0100543
18 spastic tetraplegia 31 HP:0002510
19 ataxia 31 HP:0001251
20 hyperreflexia 31 HP:0001347
21 motor delay 31 HP:0001270
22 dysarthria 31 HP:0001260
23 leukoencephalopathy 31 HP:0002352
24 metabolic acidosis 31 HP:0001942
25 cerebral atrophy 31 HP:0002059
26 athetosis 31 HP:0002305
27 short attention span 31 HP:0000736
28 urinary incontinence 31 HP:0000020
29 febrile seizure (within the age range of 3 months to 6 years) 31 HP:0002373

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
optic atrophy

Growth Other:
failure to thrive

Genitourinary Bladder:
urinary incontinence (adult)

Neurologic Central Nervous System:
cognitive impairment
hyperreflexia
dysarthria
dystonia
leukoencephalopathy
more
Metabolic Features:
metabolic acidosis

Laboratory Abnormalities:
increased urinary 3-methylglutaconic acid
increased urinary hydroxyisovaleric acid
decreased activity of 3-methylglutaconyl-coa hydratase

Clinical features from OMIM:

250950

UMLS symptoms related to 3-Methylglutaconic Aciduria, Type I:


athetosis, cerebellar ataxia

Drugs & Therapeutics for 3-Methylglutaconic Aciduria, Type I

Search Clinical Trials , NIH Clinical Center for 3-Methylglutaconic Aciduria, Type I

Genetic Tests for 3-Methylglutaconic Aciduria, Type I

Genetic tests related to 3-Methylglutaconic Aciduria, Type I:

# Genetic test Affiliating Genes
1 3-Methylglutaconic Aciduria Type 1 29 AUH

Anatomical Context for 3-Methylglutaconic Aciduria, Type I

MalaCards organs/tissues related to 3-Methylglutaconic Aciduria, Type I:

40
Brain, Eye, Skeletal Muscle, Skin, Placenta, Testes

Publications for 3-Methylglutaconic Aciduria, Type I

Articles related to 3-Methylglutaconic Aciduria, Type I:

(show top 50) (show all 103)
# Title Authors PMID Year
1
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. 6 61 56
20855850 2010
2
3-Methylglutaconic aciduria type I causes leukoencephalopathy of adult onset. 61 6 56
17130438 2006
3
A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I. 56 6 61
16354225 2005
4
3-methylglutaconic aciduria type I in a boy with fever-associated seizures. 56 6 61
15033206 2004
5
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. 56 6 61
12655555 2003
6
3-Methylglutaconic aciduria type I is caused by mutations in AUH. 61 6 56
12434311 2002
7
3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic disease. 56 6 61
10070612 1999
8
Inherited 3-methylglutaconic aciduria in two brothers--another defect of leucine metabolism. 6 56
6181239 1982
9
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. 61 56
23296368 2013
10
3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the leading sign. 61 6
10896289 2000
11
The phenotypic spectrum of fifty Czech m.3243A>G carriers. 6
27296531 2016
12
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation. 6
23243073 2013
13
MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes. 6
20610441 2010
14
Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation. 6
20697048 2010
15
Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription. 6
20550934 2010
16
Efficacy of lamotrigine in disabling myoclonus in a patient with an mtDNA A3243G mutation. 6
19349610 2009
17
Protean phenotypic features of the A3243G mitochondrial DNA mutation. 6
19139304 2009
18
The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2. 6
18753147 2008
19
Pathogenic mitochondrial DNA mutations are common in the general population. 6
18674747 2008
20
Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system. 6
18306232 2008
21
Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood. 6
18252214 2008
22
The A3243G tRNALeu(UUR) mutation induces mitochondrial dysfunction and variable disease expression without dominant negative acting translational defects in complex IV subunits at UUR codons. 6
17656376 2007
23
Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children. 6
17823937 2007
24
Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G. 6
17564976 2007
25
Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation. 6
16950816 2007
26
Maternally inherited diabetes and deafness in a North American kindred: tips for making the diagnosis and review of unique management issues. 6
17018649 2006
27
Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation. 6
17172609 2006
28
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. 56
16055927 2006
29
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency. 6
16326995 2006
30
DNA light-strand preferential recognition of human mitochondria transcription termination factor mTERF. 6
16336784 2005
31
MELAS A3243G mitochondrial DNA mutation and age related maculopathy. 6
15629304 2004
32
Cerebellar ataxia as atypical manifestation of the 3243A>G MELAS mutation. 6
15032978 2004
33
A mitochondrial DNA mutation (A3243G mtDNA) in a family with cyclic vomiting. 6
12905015 2003
34
Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation. 6
12612863 2003
35
The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness. 6
11840193 2001
36
Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation. 6
11708999 2001
37
Hearing impairment in patients with 3243A-->G mtDNA mutation: phenotype and rate of progression. 6
11379873 2001
38
No correlation between muscle A3243G mutation load and mitochondrial function in vivo. 6
11320187 2001
39
Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation). 6
11241464 2001
40
Frequency and clinical features of patients with sensorineural hearing loss associated with the A3243G mutation of the mitochondrial DNA in otorhinolaryngic clinics. 6
11587074 2001
41
Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G. 6
11175302 2001
42
Identification of mtDNA mutation in a pedigree with gestational diabetes, deafness, Wolff-Parkinson-White syndrome and placenta accreta. 6
11096278 2001
43
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. 6
11085913 2001
44
The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes. 6
10858457 2000
45
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. 6
10699170 2000
46
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia. 6
10626578 1999
47
The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate. 6
10514449 1999
48
Mitochondrial 3243 A-->G mutation (MELAS mutation) associated with painful muscle stiffness. 6
10407850 1999
49
Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation. 6
10482110 1999
50
Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation. 6
10366077 1999

Variations for 3-Methylglutaconic Aciduria, Type I

ClinVar genetic disease variations for 3-Methylglutaconic Aciduria, Type I:

6 (show top 50) (show all 334) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CUBN NM_001081.3(CUBN):c.5511dup (p.Gly1838fs)duplication Pathogenic 522509 rs1168074679 10:16982067-16982068 10:16940068-16940069
2 CUBN NM_001081.3(CUBN):c.7955C>A (p.Ser2652Ter)SNV Pathogenic 522697 rs1554790861 10:16946072-16946072 10:16904073-16904073
3 AMN NC_000014.9:g.(?_102870182)_(102930700_?)deldeletion Pathogenic 532214 14:103336519-103397037 14:102870182-102930700
4 CUBN NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter)SNV Pathogenic 581662 rs143944436 10:16982151-16982151 10:16940152-16940152
5 CUBN NM_001081.3(CUBN):c.5530C>T (p.Gln1844Ter)SNV Pathogenic 579557 rs1564435943 10:16982049-16982049 10:16940050-16940050
6 CUBN NM_001081.3(CUBN):c.4459C>T (p.Arg1487Ter)SNV Pathogenic 575738 rs145661597 10:17026170-17026170 10:16984171-16984171
7 CUBN NM_001081.3(CUBN):c.7906C>T (p.Arg2636Ter)SNV Pathogenic 569408 rs137998687 10:16948208-16948208 10:16906209-16906209
8 CUBN NM_001081.3(CUBN):c.5600del (p.Phe1867fs)deletion Pathogenic 599082 rs747417629 10:16981095-16981095 10:16939096-16939096
9 AUH NM_001698.2(AUH):c.(?_1)_(418_?)+1deldeletion Pathogenic 619968 9:91355882-91361889
10 AUH NC_000009.12:g.(?_91220785)_(91221012_?)deldeletion Pathogenic 831476 9:93983067-93983294
11 AUH NM_001698.3(AUH):c.197del (p.Gly66fs)deletion Pathogenic 850052 9:94123975-94123975 9:91361693-91361693
12 CUBN NM_001081.4(CUBN):c.10245C>A (p.Tyr3415Ter)SNV Pathogenic 836099 10:16877130-16877130 10:16835131-16835131
13 CUBN NM_001081.4(CUBN):c.7330C>T (p.Arg2444Ter)SNV Pathogenic 838702 10:16957052-16957052 10:16915053-16915053
14 AUH NM_001698.2(AUH):c.589C>T (p.Arg197Ter)SNV Pathogenic 9056 rs121434636 9:94060275-94060275 9:91297993-91297993
15 AUH NM_001698.2(AUH):c.895-1G>ASNV Pathogenic 9057 rs730880309 9:93978389-93978389 9:91216107-91216107
16 AUH NM_001351431.1(AUH):c.-318deldeletion Pathogenic 9058 rs730880310 9:94124092-94124092 9:91361810-91361810
17 AUH NM_001698.2(AUH):c.263-2A>GSNV Pathogenic 9059 rs730880311 9:94118439-94118439 9:91356157-91356157
18 AUH NM_001698.2(AUH):c.943-2A>GSNV Pathogenic 9060 rs730880312 9:93976709-93976709 9:91214427-91214427
19 MT-TL1 NC_012920.1:m.3243A>GSNV Pathogenic 9589 rs199474657 MT:3243-3243 MT:3243-3243
20 AUH NM_001698.2(AUH):c.559G>A (p.Gly187Ser)SNV Pathogenic 30079 rs387906755 9:94060305-94060305 9:91298023-91298023
21 AUH NM_001698.2(AUH):c.650G>A (p.Gly217Asp)SNV Pathogenic 30080 rs387906756 9:94058308-94058308 9:91296026-91296026
22 CUBN NM_001081.3(CUBN):c.1865del (p.Thr622fs)deletion Pathogenic 56323 rs386833771 10:17130245-17130245 10:17088246-17088246
23 CUBN NM_001081.3(CUBN):c.6928_6934del (p.Glu2310fs)deletion Pathogenic 189227 rs757649673 10:16960687-16960693 10:16918688-16918694
24 CUBN NM_001081.3(CUBN):c.3890C>T (p.Pro1297Leu)SNV Pathogenic/Likely pathogenic 6689 rs121434430 10:17083159-17083159 10:17041160-17041160
25 AMN NM_030943.3(AMN):c.14del (p.Gly5fs)deletion Pathogenic/Likely pathogenic 56749 rs386834168 14:103389037-103389037 14:102922700-102922700
26 CUBN NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs)deletion Pathogenic/Likely pathogenic 56330 rs386833777 10:17113435-17113436 10:17071436-17071437
27 CUBN NM_001081.3(CUBN):c.2673C>A (p.Cys891Ter)SNV Likely pathogenic 56331 rs386833778 10:17110722-17110722 10:17068723-17068723
28 CUBN NM_001081.3(CUBN):c.2949C>A (p.Tyr983Ter)SNV Likely pathogenic 56332 rs386833779 10:17110122-17110122 10:17068123-17068123
29 CUBN NM_001081.3(CUBN):c.3056C>G (p.Ser1019Ter)SNV Likely pathogenic 56333 rs386833780 10:17107590-17107590 10:17065591-17065591
30 CUBN NM_001081.3(CUBN):c.3096del (p.Ala1031_Tyr1032insTer)deletion Likely pathogenic 56334 rs386833781 10:17107550-17107550 10:17065551-17065551
31 CUBN NM_001081.3(CUBN):c.3577T>G (p.Trp1193Gly)SNV Likely pathogenic 56335 rs386833783 10:17087101-17087101 10:17045102-17045102
32 CUBN NM_001081.3(CUBN):c.3749C>T (p.Ser1250Phe)SNV Likely pathogenic 56336 rs386833784 10:17085906-17085906 10:17043907-17043907
33 CUBN NM_001081.3(CUBN):c.3999C>A (p.Cys1333Ter)SNV Likely pathogenic 56337 rs386833785 10:17083050-17083050 10:17041051-17041051
34 CUBN NM_001081.3(CUBN):c.4115C>G (p.Thr1372Arg)SNV Likely pathogenic 56338 rs386833786 10:17061885-17061885 10:17019886-17019886
35 CUBN NM_001081.3(CUBN):c.4168G>A (p.Gly1390Ser)SNV Likely pathogenic 56339 rs386833787 10:17061832-17061832 10:17019833-17019833
36 CUBN NM_001081.3(CUBN):c.434G>A (p.Gly145Glu)SNV Likely pathogenic 56340 rs386833788 10:17165642-17165642 10:17123643-17123643
37 CUBN NM_001081.3(CUBN):c.489G>A (p.Lys163=)SNV Likely pathogenic 56341 rs386833789 10:17165587-17165587 10:17123588-17123588
38 CUBN NM_001081.3(CUBN):c.673T>A (p.Cys225Ser)SNV Likely pathogenic 56342 rs386833790 10:17157517-17157517 10:17115518-17115518
39 CUBN NM_001081.3(CUBN):c.889C>T (p.Gln297Ter)SNV Likely pathogenic 56343 rs386833791 10:17153044-17153044 10:17111045-17111045
40 AMN NM_030943.3(AMN):c.1006+16_1006+30deldeletion Likely pathogenic 56741 rs386834160 14:103396433-103396447 14:102930096-102930110
41 AMN NM_030943.3(AMN):c.1006+34_1007-31deldeletion Likely pathogenic 56742 rs386834161 14:103396445-103396459 14:102930108-102930122
42 AMN NM_030943.3(AMN):c.1006+36_1007-29deldeletion Likely pathogenic 56743 rs386834162 14:103396459-103396473 14:102930122-102930136
43 AMN NM_030943.3(AMN):c.1014_1021del (p.Leu339fs)deletion Likely pathogenic 56744 rs386834163 14:103396509-103396516 14:102930172-102930179
44 AMN NM_030943.3(AMN):c.208-1G>CSNV Likely pathogenic 56750 rs386834169 14:103394762-103394762 14:102928425-102928425
45 AMN NM_030943.3(AMN):c.208-2A>GSNV Likely pathogenic 56751 rs386834170 14:103394761-103394761 14:102928424-102928424
46 AMN NM_030943.3(AMN):c.295+1deldeletion Likely pathogenic 56752 rs386834171 14:103394849-103394849 14:102928512-102928512
47 AMN NM_030943.3(AMN):c.43+1G>TSNV Likely pathogenic 56753 rs386834172 14:103389069-103389069 14:102922732-102922732
48 AMN NM_030943.3(AMN):c.468dup (p.Gly157fs)duplication Likely pathogenic 56754 rs386834173 14:103395266-103395267 14:102928929-102928930
49 AMN NM_030943.3(AMN):c.514-34G>ASNV Likely pathogenic 56755 rs144077391 14:103395424-103395424 14:102929087-102929087
50 AMN NM_030943.3(AMN):c.663G>A (p.Trp221Ter)SNV Likely pathogenic 56756 rs386834174 14:103395776-103395776 14:102929439-102929439

UniProtKB/Swiss-Prot genetic disease variations for 3-Methylglutaconic Aciduria, Type I:

73
# Symbol AA change Variation ID SNP ID
1 AUH p.Ala240Val VAR_016911 rs769894315

Expression for 3-Methylglutaconic Aciduria, Type I

Search GEO for disease gene expression data for 3-Methylglutaconic Aciduria, Type I.

GO Terms for 3-Methylglutaconic Aciduria, Type I

Cellular components related to 3-Methylglutaconic Aciduria, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.65 GGA2 GGA1 CUBN CBLIF AMN
2 endosome membrane GO:0010008 9.46 GGA2 GGA1 CUBN AMN
3 mitochondrion GO:0005739 9.23 TMEM70 SERAC1 OPA3 NIPSNAP3B ECHDC2 DNAJC19
4 clathrin-coated pit GO:0005905 9.13 LRP3 CUBN AMN

Biological processes related to 3-Methylglutaconic Aciduria, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.77 GGA2 GGA1 DNAJC19 CUBN AMN
2 receptor-mediated endocytosis GO:0006898 9.61 LRP3 CUBN AMN
3 fatty acid beta-oxidation GO:0006635 9.43 EHHADH ECHDC2 AUH
4 protein localization to cell surface GO:0034394 9.4 GGA2 GGA1
5 Golgi to plasma membrane protein transport GO:0043001 9.33 GGA2 GGA1 AMN
6 high-density lipoprotein particle clearance GO:0034384 9.32 CUBN AMN
7 cobalamin metabolic process GO:0009235 9.13 CUBN CBLIF AMN
8 cobalamin transport GO:0015889 8.8 CUBN CBLIF AMN

Molecular functions related to 3-Methylglutaconic Aciduria, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.43 EHHADH ECHDC2 AUH
2 cobalamin binding GO:0031419 9.16 CUBN CBLIF
3 ADP-ribosylation factor binding GO:0030306 8.96 GGA2 GGA1
4 enoyl-CoA hydratase activity GO:0004300 8.8 EHHADH ECHDC2 AUH

Sources for 3-Methylglutaconic Aciduria, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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50 NDF-RT
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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