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 57 43 13 39
3-Methylglutaconyl-Coa Hydratase Deficiency 57 12 20 43 58 73
3-Methylglutaconic Aciduria Type 1 12 58 29 6 15 71
Mga1 57 12 43 58 73
3mg-Coa Hydratase Deficiency 12 58 73
Mga Type I 12 20 73
Mgca1 57 43 73
3 Methylglutaconyl Coa Hydratase Deficiency 74 20
3-Mg-Coa-Hydratase Deficiency 57 43
Mga, Type I 57 43
Megaloblastic Anemia Due to Inborn Errors of Metabolism 71
3-Alpha-Methylglutaconyl-Coa Hydratase Deficiency 73
3 Alpha Methylglutaconic Aciduria Type I 20
3-Alpha-Methylglutaconic Aciduria Type 1 73
3-@methylglutaconic Aciduria, Type I 71
Primary 3-Methylglutaconic Aciduria 43
3-Methylglutaconic Aciduria Type I 12
3 Methylglutaconic Aciduria Type 1 20
3-Methylglutaconic Aciduria 1 73
3mg Coa Hydratase Deficiency 20
Mga, Type I; Mga1 57
3-Mgca Type I 20
Auh Defect 43

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
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 adult onset


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for 3-Methylglutaconic Aciduria, Type I

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 67046Definition3-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.EpidemiologyThe disorder is very rare with less than 20 cases reported in the literature.Clinical descriptionClinical 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.EtiologyThe syndrome is caused by mutations in the AUH gene (chromosome 9) encoding 3-methylglutaconyl-CoA hydratase, an enzyme involved in leucine degradation.Diagnostic methodsAs 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 diagnosisPatients 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 diagnosisPrenatal 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 counselingThe syndrome is inherited as an autosomal recessive trait.Management and treatmentTreatment 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 skeletal muscle, skin and placenta, 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.

MedlinePlus Genetics : 43 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® : 57 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) (Updated 05-Mar-2021)

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 38)
# Related Disease Score Top Affiliating Genes
1 imerslund-grasbeck syndrome 1 32.2 TRAF3 CUBN AMN
2 megaloblastic anemia 32.0 TRAF3 CUBN CBLIF AMN
3 3-methylglutaconic aciduria, type vii 31.7 GGA2 GGA1 CUBN CLPB
4 3-methylglutaconic aciduria, type iv 31.4 TMEM70 SERAC1 OPA3 GGA2 GGA1 FBXO3
5 3-methylglutaconic aciduria, type iii 30.8 TMEM70 SERAC1 OPA3 DNAJC19 AUH
6 3-methylglutaconic aciduria 30.6 TMEM70 SERAC1 OPA3 MT-TL1 GGA2 GGA1
7 organic acidemia 30.5 TMEM70 SERAC1 OPA3 DNAJC19 AUH
8 barth syndrome 30.5 TMEM70 SERAC1 OPA3 DNAJC19 AUH
9 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 30.1 TMEM70 SERAC1 OPA3 DNAJC19 CLPB AUH
10 febrile seizures 10.3
11 metabolic acidosis 10.3
12 hypotonia 10.3
13 diphyllobothriasis 10.3 MT-TL1 CBLIF AMN
14 congenital intrinsic factor deficiency 10.3 CUBN CBLIF AMN
15 vitamin metabolic disorder 10.2 CUBN CBLIF AMN
16 ataxia and polyneuropathy, adult-onset 10.2
17 abdominal obesity-metabolic syndrome 1 10.2
18 autosomal recessive disease 10.2
19 quadriplegia 10.2
20 inherited metabolic disorder 10.2
21 learning disability 10.2
22 clpb deficiency 10.2
23 serac1 deficiency 10.2
24 encephalopathy 10.2
25 seizure disorder 10.2
26 spasticity 10.2
27 neurometabolic disease 10.2
28 dystonia 10.2
29 precocious puberty 10.2
30 central precocious puberty 10.2
31 vitamin b12 deficiency 10.2 CUBN CBLIF AMN
32 3-methylglutaconic aciduria, type v 10.2 TMEM70 SERAC1 OPA3 DNAJC19 AUH
33 tropical sprue 10.2 CBLIF AMN
34 sengers syndrome 10.2 TMEM70 SERAC1 DNAJC19 CLPB
35 amino acid metabolic disorder 10.1 SERAC1 OPA3 DNAJC19
36 donnai-barrow syndrome 10.1 CUBN AMN
37 tmem70 defect 10.0
38 deficiency anemia 9.9

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 32)
# 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 very rare (1%) Very frequent (99-80%) HP:0003535
3 global developmental delay 58 31 very rare (1%) Frequent (79-30%) HP:0001263
4 delayed speech and language development 58 31 very rare (1%) 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 spasticity 31 very rare (1%) HP:0001257
15 ataxia 31 very rare (1%) HP:0001251
16 optic atrophy 31 very rare (1%) HP:0000648
17 psychomotor retardation 31 very rare (1%) HP:0025356
18 athetosis 31 very rare (1%) HP:0002305
19 dementia 31 very rare (1%) HP:0000726
20 abnormality of the cerebral white matter 31 very rare (1%) HP:0002500
21 self-mutilation 31 very rare (1%) HP:0000742
22 seizures 58 Occasional (29-5%)
23 hyperreflexia 31 HP:0001347
24 dysarthria 31 HP:0001260
25 spastic tetraplegia 31 HP:0002510
26 motor delay 31 HP:0001270
27 leukoencephalopathy 31 HP:0002352
28 metabolic acidosis 31 HP:0001942
29 cerebral atrophy 31 HP:0002059
30 short attention span 31 HP:0000736
31 urinary incontinence 31 HP:0000020
32 febrile seizure (within the age range of 3 months to 6 years) 31 HP:0002373

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
cognitive impairment
dystonia
leukoencephalopathy
more
Head And Neck Eyes:
optic atrophy

Genitourinary Bladder:
urinary incontinence (adult)

Growth Other:
failure to thrive

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 (Updated 05-Mar-2021)

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
Skeletal Muscle, Skin, Placenta

Publications for 3-Methylglutaconic Aciduria, Type I

Articles related to 3-Methylglutaconic Aciduria, Type I:

(show top 50) (show all 104)
# Title Authors PMID Year
1
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. 61 57 6
20855850 2010
2
3-Methylglutaconic aciduria type I causes leukoencephalopathy of adult onset. 6 57 61
17130438 2006
3
A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I. 61 6 57
16354225 2005
4
3-methylglutaconic aciduria type I in a boy with fever-associated seizures. 6 57 61
15033206 2004
5
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. 61 6 57
12655555 2003
6
3-Methylglutaconic aciduria type I is caused by mutations in AUH. 61 6 57
12434311 2002
7
3-Methylglutaconic aciduria type I: clinical heterogeneity as a neurometabolic disease. 61 57 6
10070612 1999
8
Inherited 3-methylglutaconic aciduria in two brothers--another defect of leucine metabolism. 6 57
6181239 1982
9
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. 57 61
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. 57
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
No correlation between muscle A3243G mutation load and mitochondrial function in vivo. 6
11320187 2001
38
Hearing impairment in patients with 3243A-->G mtDNA mutation: phenotype and rate of progression. 6
11379873 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
Identification of mtDNA mutation in a pedigree with gestational diabetes, deafness, Wolff-Parkinson-White syndrome and placenta accreta. 6
11096278 2001
41
Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G. 6
11175302 2001
42
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. 6
11085913 2001
43
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
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 maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation. 6
10482110 1999
49
Mitochondrial 3243 A-->G mutation (MELAS mutation) associated with painful muscle stiffness. 6
10407850 1999
50
Infantile encephalopathy associated with the MELAS A3243G mutation. 6
10356136 1999

Variations for 3-Methylglutaconic Aciduria, Type I

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

6 (show top 50) (show all 369)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AUH NM_001698.2(AUH):c.(?_1)_(418_?)+1del Deletion Pathogenic 619968 9:91355882-91361889
2 AUH NC_000009.12:g.(?_91220785)_(91221012_?)del Deletion Pathogenic 831476 9:93983067-93983294
3 AUH NM_001698.3(AUH):c.197del (p.Gly66fs) Deletion Pathogenic 850052 9:94123975-94123975 9:91361693-91361693
4 AUH NM_001698.2(AUH):c.650G>A (p.Gly217Asp) SNV Pathogenic 30080 rs387906756 9:94058308-94058308 9:91296026-91296026
5 AUH NM_001698.2(AUH):c.559G>A (p.Gly187Ser) SNV Pathogenic 30079 rs387906755 9:94060305-94060305 9:91298023-91298023
6 AUH NM_001698.2(AUH):c.943-2A>G SNV Pathogenic 9060 rs730880312 9:93976709-93976709 9:91214427-91214427
7 AUH NM_001698.2(AUH):c.263-2A>G SNV Pathogenic 9059 rs730880311 9:94118439-94118439 9:91356157-91356157
8 AUH NM_001351431.1(AUH):c.-318del Deletion Pathogenic 9058 rs730880310 9:94124092-94124092 9:91361810-91361810
9 AUH NM_001698.2(AUH):c.895-1G>A SNV Pathogenic 9057 rs730880309 9:93978389-93978389 9:91216107-91216107
10 AUH NM_001698.2(AUH):c.589C>T (p.Arg197Ter) SNV Pathogenic 9056 rs121434636 9:94060275-94060275 9:91297993-91297993
11 CUBN NM_001081.3(CUBN):c.6928_6934del (p.Glu2310fs) Deletion Pathogenic 189227 rs757649673 10:16960687-16960693 10:16918688-16918694
12 CUBN NM_001081.3(CUBN):c.5511dup (p.Gly1838fs) Duplication Pathogenic 522509 rs1168074679 10:16982067-16982068 10:16940068-16940069
13 CUBN NM_001081.3(CUBN):c.7955C>A (p.Ser2652Ter) SNV Pathogenic 522697 rs1554790861 10:16946072-16946072 10:16904073-16904073
14 TRAF3 NC_000014.9:g.(?_102870182)_(102930700_?)del Deletion Pathogenic 532214 14:103336519-103397037 14:102870182-102930700
15 CUBN NM_001081.3(CUBN):c.5530C>T (p.Gln1844Ter) SNV Pathogenic 579557 rs1564435943 10:16982049-16982049 10:16940050-16940050
16 CUBN NM_001081.3(CUBN):c.7906C>T (p.Arg2636Ter) SNV Pathogenic 569408 rs137998687 10:16948208-16948208 10:16906209-16906209
17 CUBN NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter) SNV Pathogenic 581662 rs143944436 10:16982151-16982151 10:16940152-16940152
18 CUBN NM_001081.3(CUBN):c.5600del (p.Phe1867fs) Deletion Pathogenic 599082 rs747417629 10:16981095-16981095 10:16939096-16939096
19 CUBN NM_001081.4(CUBN):c.10245C>A (p.Tyr3415Ter) SNV Pathogenic 836099 10:16877130-16877130 10:16835131-16835131
20 CUBN NM_001081.4(CUBN):c.7330C>T (p.Arg2444Ter) SNV Pathogenic 838702 10:16957052-16957052 10:16915053-16915053
21 CUBN NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter) SNV Pathogenic 936927 10:16957935-16957935 10:16915936-16915936
22 CUBN NM_001081.4(CUBN):c.2305C>T (p.Arg769Ter) SNV Pathogenic 937337 10:17113967-17113967 10:17071968-17071968
23 AMN NM_030943.4(AMN):c.791dup (p.Phe265fs) Duplication Pathogenic 937588 14:103396021-103396022 14:102929684-102929685
24 CUBN NM_001081.4(CUBN):c.703C>T (p.Arg235Ter) SNV Pathogenic 942574 10:17157487-17157487 10:17115488-17115488
25 MT-TL1 NC_012920.1:m.3243A>G SNV Pathogenic 9589 rs199474657 MT:3243-3243 MT:3243-3243
26 CUBN NM_001081.3(CUBN):c.4459C>T (p.Arg1487Ter) SNV Pathogenic 575738 rs145661597 10:17026170-17026170 10:16984171-16984171
27 CUBN NM_001081.3(CUBN):c.1865del (p.Thr622fs) Deletion Likely pathogenic 56323 rs386833771 10:17130245-17130245 10:17088246-17088246
28 CUBN NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs) Deletion Likely pathogenic 667368 rs770921101 10:17026165-17026169 10:16984166-16984170
29 CUBN NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr) SNV Likely pathogenic 695032 rs201720797 10:16975115-16975115 10:16933116-16933116
30 CUBN NM_001081.3(CUBN):c.10285dup (p.Gln3429fs) Duplication Likely pathogenic 590812 rs754704005 10:16877089-16877090 10:16835090-16835091
31 CUBN NM_001081.3(CUBN):c.4921del (p.Tyr1641fs) Deletion Likely pathogenic 599133 rs1564443979 10:16994323-16994323 10:16952324-16952324
32 CUBN NM_001081.3(CUBN):c.9949C>T (p.Gln3317Ter) SNV Likely pathogenic 599134 rs1564379463 10:16882412-16882412 10:16840413-16840413
33 CUBN NM_001081.4(CUBN):c.5549-2A>C SNV Likely pathogenic 599158 rs1564435513 10:16981148-16981148 10:16939149-16939149
34 CUBN NM_001081.4(CUBN):c.3473G>A (p.Trp1158Ter) SNV Likely pathogenic 599173 rs1564492988 10:17087950-17087950 10:17045951-17045951
35 CUBN NM_001081.4(CUBN):c.7534-1G>T SNV Likely pathogenic 829919 rs1588639188 10:16949679-16949679 10:16907680-16907680
36 CUBN NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) SNV Likely pathogenic 829936 rs374417889 10:16975122-16975122 10:16933123-16933123
37 CUBN NM_001081.4(CUBN):c.4973del (p.Asn1658fs) Deletion Likely pathogenic 829940 rs1588511533 10:16992107-16992107 10:16950108-16950108
38 CUBN NM_001081.4(CUBN):c.7001-2A>T SNV Likely pathogenic 850031 10:16958031-16958031 10:16916032-16916032
39 AMN NM_030943.3(AMN):c.844-1G>C SNV Likely pathogenic 567966 rs969552874 14:103396260-103396260 14:102929923-102929923
40 AMN NM_030943.3(AMN):c.760+1G>A SNV Likely pathogenic 532205 rs1555381485 14:103395874-103395874 14:102929537-102929537
41 AUH NM_001698.2(AUH):c.373C>T (p.Arg125Trp) SNV Likely pathogenic 208151 rs200030276 9:94118210-94118210 9:91355928-91355928
42 AUH NM_001698.3(AUH):c.656-2del Deletion Likely pathogenic 936309 9:93983276-93983276 9:91220994-91220994
43 AMN NM_030943.3(AMN):c.1257+10C>T SNV Likely pathogenic 56747 rs386834166 14:103396840-103396840 14:102930503-102930503
44 AMN NM_030943.3(AMN):c.1312_1313CA[1] (p.His438fs) Microsatellite Likely pathogenic 56748 rs386834167 14:103396967-103396968 14:102930630-102930631
45 AMN NM_030943.3(AMN):c.14del (p.Gly5fs) Deletion Likely pathogenic 56749 rs386834168 14:103389037-103389037 14:102922700-102922700
46 AMN NM_030943.3(AMN):c.208-1G>C SNV Likely pathogenic 56750 rs386834169 14:103394762-103394762 14:102928425-102928425
47 AMN NM_030943.4(AMN):c.208-2A>G SNV Likely pathogenic 56751 rs386834170 14:103394761-103394761 14:102928424-102928424
48 AMN NM_030943.3(AMN):c.295+1del Deletion Likely pathogenic 56752 rs386834171 14:103394849-103394849 14:102928512-102928512
49 AMN NM_030943.3(AMN):c.43+1G>T SNV Likely pathogenic 56753 rs386834172 14:103389069-103389069 14:102922732-102922732
50 AMN NM_030943.3(AMN):c.468dup (p.Gly157fs) Duplication Likely pathogenic 56754 rs386834173 14:103395266-103395267 14:102928929-102928930

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 membrane GO:0010008 9.56 GGA2 GGA1 CUBN AMN
2 endosome GO:0005768 9.43 TRAF3 GGA2 GGA1 CUBN CBLIF AMN
3 clathrin-coated pit GO:0005905 9.33 LRP3 CUBN AMN
4 mitochondrion GO:0005739 9.28 TRAF3 TMEM70 SERAC1 OPA3 NIPSNAP3B ECHDC2

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 9.33 EHHADH ECHDC2 AUH
2 cobalamin binding GO:0031419 8.96 CUBN CBLIF
3 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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