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 56 73
3-Methylglutaconic Aciduria Type 9 12 58 29 6
Mgca9 56 73
3-Methylglutaconic Aciduria-Epilepsy-Spasticity-Severe Intellectual Disability Syndrome 58
3-Methylglutaconic Acuduria Type Ix, Mgca9 12
3-Methylglutaconic Aciduria 9 73
Mga9 58

Characteristics:

OMIM:

56
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:

31
3-methylglutaconic aciduria, type ix:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for 3-Methylglutaconic Aciduria, Type Ix

OMIM : 56 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 : 73 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:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
2 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
3 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
4 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
5 slender build 58 31 hallmark (90%) Very frequent (99-80%) HP:0001533
6 increased serum lactate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002151
7 clonus 58 31 very rare (1%) Very frequent (99-80%) HP:0002169
8 encephalopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001298
9 status epilepticus 58 31 hallmark (90%) Very frequent (99-80%) HP:0002133
10 cerebral atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002059
11 aggressive behavior 58 31 hallmark (90%) Very frequent (99-80%) HP:0000718
12 3-methylglutaconic aciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003535
13 diffuse white matter abnormalities 58 31 hallmark (90%) Very frequent (99-80%) HP:0007204
14 decreased activity of mitochondrial atp synthase complex 58 31 hallmark (90%) Very frequent (99-80%) HP:0011925
15 delayed ability to walk 58 31 hallmark (90%) Very frequent (99-80%) HP:0031936
16 optic atrophy 58 31 very rare (1%) Occasional (29-5%) HP:0000648
17 spasticity 58 31 very rare (1%) Occasional (29-5%) HP:0001257
18 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
19 urinary incontinence 58 31 very rare (1%) Occasional (29-5%) HP:0000020
20 hypsarrhythmia 58 31 very rare (1%) Occasional (29-5%) HP:0002521
21 abnormality of the cerebral white matter 31 very rare (1%) HP:0002500
22 global developmental delay 31 HP:0001263
23 seizures 58 Occasional (29-5%)
24 neurological speech impairment 58 Very frequent (99-80%)
25 eeg abnormality 58 Very frequent (99-80%)
26 hyperreflexia 58 Occasional (29-5%)
27 delayed gross motor development 58 Very frequent (99-80%)
28 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
hypertonia
muscle weakness
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 9 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. 6 56
27573165 2017

Variations for 3-Methylglutaconic Aciduria, Type Ix

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TIMM50 NM_001001563.5(TIMM50):c.446C>T (p.Thr149Met)SNV Pathogenic 440792 rs1244226820 19:39976401-39976401 19:39485761-39485761
2 TIMM50 NM_001001563.5(TIMM50):c.340C>T (p.Arg114Trp)SNV Pathogenic 440793 rs1300848445 19:39976210-39976210 19:39485570-39485570
3 TIMM50 NM_001001563.5(TIMM50):c.664G>A (p.Ala222Thr)SNV Pathogenic 488622 rs1305711807 19:39977103-39977103 19:39486463-39486463
4 TIMM50 NM_001001563.5(TIMM50):c.715C>T (p.Arg239Trp)SNV Pathogenic 488623 rs1449758112 19:39978719-39978719 19:39488079-39488079
5 NC_000019.10:g.39480831G>ASNV Uncertain significance 811457 19:39971471-39971471 19:39480831-39480831
6 TIMM50 NM_001001563.5(TIMM50):c.671G>T (p.Arg224Ile)SNV Uncertain significance 915392 19:39977110-39977110 19:39486470-39486470

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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