MGCA9
MCID: 3MT023
MIFTS: 23

3-Methylglutaconic Aciduria, Type Ix (MGCA9)

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

Aliases & Classifications for 3-Methylglutaconic Aciduria, Type Ix

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

Name: 3-Methylglutaconic Aciduria, Type Ix 58 76 6
Mgca9 58 76
3-Methylglutaconic Aciduria-Epilepsy-Spasticity-Severe Intellectual Disability Syndrome 60
3-Methylglutaconic Acuduria Type Ix, Mgca9 12
3-Methylglutaconic Aciduria Type Ix 12
3-Methylglutaconic Aciduria Type 9 60
3-Methylglutaconic Aciduria 9 76
Mga9 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset of seizures in first months of life
seizures tend to be responsive to medical treatment
four patients from 2 unrelated consanguineous families have been reported (last curated september 2017)


Classifications:



Summaries for 3-Methylglutaconic Aciduria, Type Ix

OMIM : 58 MGCA9 is an autosomal recessive disorder characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria, suggestive of a mitochondrial defect (summary by Shahrour et al., 2017). For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (250950). (617698)

MalaCards based summary : 3-Methylglutaconic Aciduria, Type Ix, is also known as mgca9. An important gene associated with 3-Methylglutaconic Aciduria, Type Ix is TIMM50 (Translocase Of Inner Mitochondrial Membrane 50). Affiliated tissues include eye, and related phenotypes are spasticity and clonus

Disease Ontology : 12 A 3-methylglutaconic aciduria that has material basis in homozygous mutation in the TIMM50 gene on chromosome 19q13.

UniProtKB/Swiss-Prot : 76 3-methylglutaconic aciduria 9: An autosomal recessive disease characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria.

Related Diseases for 3-Methylglutaconic Aciduria, Type Ix

Symptoms & Phenotypes for 3-Methylglutaconic Aciduria, Type Ix

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

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 60 33 very rare (1%) Occasional (29-5%) HP:0001257
2 clonus 60 33 very rare (1%) Very frequent (99-80%) HP:0002169
3 hypsarrhythmia 60 33 very rare (1%) Occasional (29-5%) HP:0002521
4 abnormality of the cerebral white matter 33 very rare (1%) HP:0002500
5 muscle weakness 60 33 Very frequent (99-80%) HP:0001324
6 failure to thrive 60 33 Very frequent (99-80%) HP:0001508
7 intellectual disability, severe 60 33 Very frequent (99-80%) HP:0010864
8 absent speech 60 33 Occasional (29-5%) HP:0001344
9 increased serum lactate 60 33 Very frequent (99-80%) HP:0002151
10 cerebral atrophy 60 33 Very frequent (99-80%) HP:0002059
11 3-methylglutaconic aciduria 60 33 Very frequent (99-80%) HP:0003535
12 delayed ability to walk 60 33 Very frequent (99-80%) HP:0031936
13 seizures 60 Occasional (29-5%)
14 muscular hypotonia 60 Very frequent (99-80%)
15 hyperreflexia 60 Occasional (29-5%)
16 neurological speech impairment 60 Very frequent (99-80%)
17 eeg abnormality 60 Very frequent (99-80%)
18 global developmental delay 33 HP:0001263
19 optic atrophy 60 Occasional (29-5%)
20 aggressive behavior 60 Very frequent (99-80%)
21 status epilepticus 60 Very frequent (99-80%)
22 slender build 60 Very frequent (99-80%)
23 generalized hypotonia 33 HP:0001290
24 encephalopathy 60 Very frequent (99-80%)
25 urinary incontinence 60 Occasional (29-5%)
26 diffuse white matter abnormalities 60 Very frequent (99-80%)
27 delayed gross motor development 60 Very frequent (99-80%)
28 decreased activity of mitochondrial atp synthase complex 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
muscle weakness
hypertonia
hypotonia
decreased mitochondrial complex v activity seen on muscle biopsy (in some patients)

Laboratory Abnormalities:
increased serum lactate
3-methylglutaconic aciduria

Head And Neck Eyes:
optic atrophy (in some patients)

Genitourinary Bladder:
urinary incontinence (in some patients)

Neurologic Central Nervous System:
intellectual disability, severe
cerebral atrophy
abnormal eeg
spasticity (in some patients)
delayed walking
more
Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior

Growth Other:
thin habitus
failure to thrive in childhood

Clinical features from OMIM:

617698

Drugs & Therapeutics for 3-Methylglutaconic Aciduria, Type Ix

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

Genetic Tests for 3-Methylglutaconic Aciduria, Type Ix

Anatomical Context for 3-Methylglutaconic Aciduria, Type Ix

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

42
Eye

Publications for 3-Methylglutaconic Aciduria, Type Ix

Articles related to 3-Methylglutaconic Aciduria, Type Ix:

# Title Authors Year
1
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. ( 27573165 )
2017

Variations for 3-Methylglutaconic Aciduria, Type Ix

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TIMM50 NM_001001563.3(TIMM50): c.755C> T (p.Thr252Met) single nucleotide variant Pathogenic rs1244226820 GRCh38 Chromosome 19, 39485761: 39485761
2 TIMM50 NM_001001563.3(TIMM50): c.755C> T (p.Thr252Met) single nucleotide variant Pathogenic rs1244226820 GRCh37 Chromosome 19, 39976401: 39976401
3 TIMM50 NM_001001563.3(TIMM50): c.649C> T (p.Arg217Trp) single nucleotide variant Pathogenic rs1300848445 GRCh38 Chromosome 19, 39485570: 39485570
4 TIMM50 NM_001001563.3(TIMM50): c.649C> T (p.Arg217Trp) single nucleotide variant Pathogenic rs1300848445 GRCh37 Chromosome 19, 39976210: 39976210
5 TIMM50 NM_001001563.4(TIMM50): c.664G> A (p.Ala222Thr) single nucleotide variant Pathogenic rs1305711807 GRCh37 Chromosome 19, 39977103: 39977103
6 TIMM50 NM_001001563.4(TIMM50): c.664G> A (p.Ala222Thr) single nucleotide variant Pathogenic rs1305711807 GRCh38 Chromosome 19, 39486463: 39486463
7 TIMM50 NM_001001563.4(TIMM50): c.715C> T (p.Arg239Trp) single nucleotide variant Pathogenic rs1449758112 GRCh37 Chromosome 19, 39978719: 39978719
8 TIMM50 NM_001001563.4(TIMM50): c.715C> T (p.Arg239Trp) single nucleotide variant Pathogenic rs1449758112 GRCh38 Chromosome 19, 39488079: 39488079

Expression for 3-Methylglutaconic Aciduria, Type Ix

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

Pathways for 3-Methylglutaconic Aciduria, Type Ix

GO Terms for 3-Methylglutaconic Aciduria, Type Ix

Sources for 3-Methylglutaconic Aciduria, Type Ix

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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