MGCA4
MCID: 3MT019
MIFTS: 36

3-Methylglutaconic Aciduria, Type Iv (MGCA4)

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

Aliases & Classifications for 3-Methylglutaconic Aciduria, Type Iv

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

Name: 3-Methylglutaconic Aciduria, Type Iv 58 41
3-Methylglutaconic Aciduria Type 4 12 60 15 74
Mga4 58 12 60
3-Methylglutaconic Aciduria Type Iv 12 74
Mgca4 58 12
Mga, Type Iv; Mga4 58
Mga, Type Iv 58
Mga Type Iv 12

Characteristics:

Orphanet epidemiological data:

60
3-methylglutaconic aciduria type 4
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
3-methylglutaconic aciduria, type iv:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for 3-Methylglutaconic Aciduria, Type Iv

OMIM : 58 The category of 3-methylglutaconic aciduria type IV (MGCA4) represents a heterogeneous unclassified group of patients who share mild or intermittent urinary excretion of 3-methylglutaconic acid. MGCA excretion is a nonspecific finding observed in many other disorders caused by defects in mitochondrial energy metabolism (Gunay-Aygun, 2005). For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (250950) (250951)

MalaCards based summary : 3-Methylglutaconic Aciduria, Type Iv, also known as 3-methylglutaconic aciduria type 4, is related to 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome and 3-methylglutaconic aciduria. An important gene associated with 3-Methylglutaconic Aciduria, Type Iv is SERAC1 (Serine Active Site Containing 1). Affiliated tissues include liver and eye, and related phenotypes are intellectual disability and seizures

Disease Ontology : 12 A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid.

Related Diseases for 3-Methylglutaconic Aciduria, Type Iv

Graphical network of the top 20 diseases related to 3-Methylglutaconic Aciduria, Type Iv:



Diseases related to 3-Methylglutaconic Aciduria, Type Iv

Symptoms & Phenotypes for 3-Methylglutaconic Aciduria, Type Iv

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

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
3 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
4 spasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001257
5 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
6 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
7 3-methylglutaconic aciduria 60 33 hallmark (90%) Very frequent (99-80%) HP:0003535
8 dysgenesis of the cerebellar vermis 60 33 frequent (33%) Frequent (79-30%) HP:0002195
9 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
10 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
11 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
12 hypoglycemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001943
13 decreased liver function 60 33 occasional (7.5%) Occasional (29-5%) HP:0001410
14 cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001638
15 thrombocytopenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001873
16 lactic acidosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0003128
17 iris hypopigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007730
18 inguinal hernia 33 HP:0000023
19 neonatal hypotonia 33 HP:0001319
20 severe global developmental delay 33 HP:0011344
21 cryptorchidism 33 HP:0000028
22 neonatal respiratory distress 33 HP:0002643
23 areflexia 33 HP:0001284
24 cerebellar dysplasia 33 HP:0007033
25 single transverse palmar crease 33 HP:0000954
26 3-methylglutaric aciduria 33 HP:0003344
27 biventricular hypertrophy 33 HP:0200128
28 subvalvular aortic stenosis 33 HP:0001682

Symptoms via clinical synopsis from OMIM:

58
Abdomen:
inguinal hernia

G U:
cryptorchidism

Cardiac:
subaortic stenosis
biventricular hypertrophy

Lab:
3-methylglutaconicaciduria
3-methylglutaricaciduria

Neuro:
neonatal hypotonia
severe psychomotor retardation
cerebellar dysgenesis
absent reflexes

Resp:
neonatal respiratory distress

Skin:
simian crease

Clinical features from OMIM:

250951

MGI Mouse Phenotypes related to 3-Methylglutaconic Aciduria, Type Iv:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.5 ATRN CA4 OPA3 POLG RYR1 SUCLA2
2 adipose tissue MP:0005375 9.46 ATRN OPA3 POLG RYR1
3 muscle MP:0005369 9.02 ATRN OPA3 POLG RYR1 TMEM70

Drugs & Therapeutics for 3-Methylglutaconic Aciduria, Type Iv

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

Genetic Tests for 3-Methylglutaconic Aciduria, Type Iv

Anatomical Context for 3-Methylglutaconic Aciduria, Type Iv

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

42
Liver, Eye

Publications for 3-Methylglutaconic Aciduria, Type Iv

Articles related to 3-Methylglutaconic Aciduria, Type Iv:

# Title Authors Year
1
Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes. ( 23382305 )
2013
2
Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1. ( 23918762 )
2013
3
3-methylglutaconic aciduria type IV: a syndrome with an evolving phenotype. ( 21646875 )
2011
4
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. ( 19015156 )
2009
5
3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome in 2 siblings. ( 17621487 )
2007

Variations for 3-Methylglutaconic Aciduria, Type Iv

Expression for 3-Methylglutaconic Aciduria, Type Iv

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

Pathways for 3-Methylglutaconic Aciduria, Type Iv

GO Terms for 3-Methylglutaconic Aciduria, Type Iv

Cellular components related to 3-Methylglutaconic Aciduria, Type Iv according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.23 AUH DNAJC19 MYOM2 OPA3 POLG SERAC1

Sources for 3-Methylglutaconic Aciduria, Type Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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