MGCA9
MCID: 3MT023
MIFTS: 22

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 57 74 29 6
3-Methylglutaconic Aciduria Type 9 12 59
Mgca9 57 74
3-Methylglutaconic Aciduria-Epilepsy-Spasticity-Severe Intellectual Disability Syndrome 59
3-Methylglutaconic Acuduria Type Ix, Mgca9 12
3-Methylglutaconic Aciduria 9 74
Mga9 59

Characteristics:

OMIM:

57
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)


HPO:

32
3-methylglutaconic aciduria, type ix:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070002
MeSH 44 D008661
Orphanet 59 ORPHA505216

Summaries for 3-Methylglutaconic Aciduria, Type Ix

OMIM : 57 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 3-methylglutaconic aciduria type 9. An important gene associated with 3-Methylglutaconic Aciduria, Type Ix is TIMM50 (Translocase Of Inner Mitochondrial Membrane 50). Related phenotypes are muscular hypotonia and muscle weakness

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

UniProtKB/Swiss-Prot : 74 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:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
2 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
3 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
4 clonus 59 32 very rare (1%) Very frequent (99-80%) HP:0002169
5 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
6 increased serum lactate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002151
7 aggressive behavior 59 32 hallmark (90%) Very frequent (99-80%) HP:0000718
8 status epilepticus 59 32 hallmark (90%) Very frequent (99-80%) HP:0002133
9 slender build 59 32 hallmark (90%) Very frequent (99-80%) HP:0001533
10 encephalopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001298
11 diffuse white matter abnormalities 59 32 hallmark (90%) Very frequent (99-80%) HP:0007204
12 cerebral atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002059
13 3-methylglutaconic aciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003535
14 decreased activity of mitochondrial atp synthase complex 59 32 hallmark (90%) Very frequent (99-80%) HP:0011925
15 delayed ability to walk 59 32 hallmark (90%) Very frequent (99-80%) HP:0031936
16 spasticity 59 32 very rare (1%) Occasional (29-5%) HP:0001257
17 optic atrophy 59 32 very rare (1%) Occasional (29-5%) HP:0000648
18 absent speech 59 32 occasional (7.5%) Occasional (29-5%) HP:0001344
19 hypsarrhythmia 59 32 very rare (1%) Occasional (29-5%) HP:0002521
20 urinary incontinence 59 32 very rare (1%) Occasional (29-5%) HP:0000020
21 abnormality of the cerebral white matter 32 very rare (1%) HP:0002500
22 seizures 59 Occasional (29-5%)
23 hyperreflexia 59 Occasional (29-5%)
24 neurological speech impairment 59 Very frequent (99-80%)
25 eeg abnormality 59 Very frequent (99-80%)
26 global developmental delay 32 HP:0001263
27 generalized hypotonia 32 HP:0001290
28 delayed gross motor development 59 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

57
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

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

# Genetic test Affiliating Genes
1 3-Methylglutaconic Aciduria, Type Ix 29 TIMM50

Anatomical Context for 3-Methylglutaconic Aciduria, Type Ix

Publications for 3-Methylglutaconic Aciduria, Type Ix

Articles related to 3-Methylglutaconic Aciduria, Type Ix:

# Title Authors PMID Year
1
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. 8 71
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 GRCh37 Pos GRCh38 Pos
1 TIMM50 NM_001001563.5(TIMM50): c.446C> T (p.Thr149Met) single nucleotide variant Pathogenic rs1244226820 19:39976401-39976401 19:39485761-39485761
2 TIMM50 NM_001001563.5(TIMM50): c.340C> T (p.Arg114Trp) single nucleotide variant Pathogenic rs1300848445 19:39976210-39976210 19:39485570-39485570
3 TIMM50 NM_001001563.5(TIMM50): c.664G> A (p.Ala222Thr) single nucleotide variant Pathogenic rs1305711807 19:39977103-39977103 19:39486463-39486463
4 TIMM50 NM_001001563.5(TIMM50): c.715C> T (p.Arg239Trp) single nucleotide variant Pathogenic rs1449758112 19:39978719-39978719 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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