MCID: 3MT023
MIFTS: 18

3-Methylglutaconic Aciduria, Type Ix

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Eye diseases, Cardiovascular 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 75 6
Mgca9 57 75
3-Methylglutaconic Aciduria-Epilepsy-Spasticity-Severe Intellectual Disability Syndrome 59
3-Methylglutaconic Aciduria Type 9 59
3-Methylglutaconic Aciduria 9 75
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)


Classifications:



External Ids:

OMIM 57 617698
Orphanet 59 ORPHA505216
MeSH 44 D008661

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 mgca9. An important gene associated with 3-Methylglutaconic Aciduria, Type Ix is TIMM50 (Translocase Of Inner Mitochondrial Membrane 50).

UniProtKB/Swiss-Prot : 75 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

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

Anatomical Context for 3-Methylglutaconic Aciduria, Type Ix

Publications for 3-Methylglutaconic Aciduria, Type Ix

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 GRCh38 Chromosome 19, 39485761: 39485761
2 TIMM50 NM_001001563.3(TIMM50): c.755C> T (p.Thr252Met) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 39976401: 39976401
3 TIMM50 NM_001001563.3(TIMM50): c.649C> T (p.Arg217Trp) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 39485570: 39485570
4 TIMM50 NM_001001563.3(TIMM50): c.649C> T (p.Arg217Trp) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 39976210: 39976210
5 TIMM50 NM_001001563.3(TIMM50): c.973G> A (p.Ala325Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 39977103: 39977103
6 TIMM50 NM_001001563.3(TIMM50): c.973G> A (p.Ala325Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 19, 39486463: 39486463
7 TIMM50 NM_001001563.3(TIMM50): c.1024C> T (p.Arg342Trp) single nucleotide variant Pathogenic GRCh37 Chromosome 19, 39978719: 39978719
8 TIMM50 NM_001001563.3(TIMM50): c.1024C> T (p.Arg342Trp) single nucleotide variant Pathogenic 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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