MGCA4
MCID: 3MT019
MIFTS: 33

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 57 40
3-Methylglutaconic Aciduria Type 4 12 59 15 72
Mga4 57 12 59
3-Methylglutaconic Aciduria Type Iv 12 72
Mgca4 57 12
Mga, Type Iv; Mga4 57
Mga, Type Iv 57
Mga Type Iv 12

Characteristics:

Orphanet epidemiological data:

59
3-methylglutaconic aciduria type 4
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110006
ICD10 via Orphanet 34 E71.1
UMLS via Orphanet 73 C0574085 C1855126
Orphanet 59 ORPHA67048
MedGen 42 C1855126
UMLS 72 C0574085 C1855126

Summaries for 3-Methylglutaconic Aciduria, Type Iv

OMIM : 57 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

Diseases in the 3-Methylglutaconic Aciduria, Type Iii family:

3-Methylglutaconic Aciduria, Type I 3-Methylglutaconic Aciduria, Type Iv
3-Methylglutaconic Aciduria, Type V 3-Methylglutaconic Aciduria, Type Viii
3-Methylglutaconic Aciduria, Type Ix 3-Methylglutaconic Aciduria

Diseases related to 3-Methylglutaconic Aciduria, Type Iv via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 32.1 TMEM70 SERAC1 OPA3 DNAJC19 AUH
2 3-methylglutaconic aciduria 30.0 TMEM70 SERAC1 OPA3 DNAJC19 AUH
3 not otherwise specified 3-mga-uria type 11.9
4 branchiootic syndrome 1 10.4
5 central core disease of muscle 10.2
6 mitochondrial dna depletion syndrome 4a 10.2
7 leigh syndrome 10.2
8 mitochondrial complex v deficiency, nuclear type 1 10.2
9 dilated cardiomyopathy 10.2
10 methylmalonic acidemia 10.2
11 lactic acidosis 10.2
12 dystonia 10.2
13 clpb deficiency 10.2
14 encephalopathy 10.2
15 organic acidemia 10.0 TMEM70 SERAC1 OPA3
16 mitochondrial dna depletion syndrome 9.7 SUCLA2 POLG
17 ocular motility disease 9.7 RYR1 POLG
18 cranial nerve disease 9.7 POLG OPA3
19 mitochondrial metabolism disease 9.6 SUCLA2 SERAC1 POLG
20 peripheral nervous system disease 9.5 POLG MYOM2
21 3-methylglutaconic aciduria, type i 9.4 TMEM70 SERAC1 OPA3 DNAJC19 AUH
22 3-methylglutaconic aciduria, type iii 9.4 TMEM70 SERAC1 OPA3 DNAJC19 AUH
23 3-methylglutaconic aciduria, type v 8.8 TMEM70 SERAC1 POLG OPA3 DNAJC19 AUH

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:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
4 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
5 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
6 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
7 3-methylglutaconic aciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003535
8 dysgenesis of the cerebellar vermis 59 32 frequent (33%) Frequent (79-30%) HP:0002195
9 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
10 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
11 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
12 hypoglycemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001943
13 decreased liver function 59 32 occasional (7.5%) Occasional (29-5%) HP:0001410
14 cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001638
15 thrombocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001873
16 lactic acidosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003128
17 iris hypopigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007730
18 inguinal hernia 32 HP:0000023
19 neonatal hypotonia 32 HP:0001319
20 areflexia 32 HP:0001284
21 severe global developmental delay 32 HP:0011344
22 cryptorchidism 32 HP:0000028
23 neonatal respiratory distress 32 HP:0002643
24 cerebellar dysplasia 32 HP:0007033
25 single transverse palmar crease 32 HP:0000954
26 3-methylglutaric aciduria 32 HP:0003344
27 biventricular hypertrophy 32 HP:0200128
28 subvalvular aortic stenosis 32 HP:0001682

Symptoms via clinical synopsis from OMIM:

57
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:

46
# 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:

41
Liver, Eye

Publications for 3-Methylglutaconic Aciduria, Type Iv

Articles related to 3-Methylglutaconic Aciduria, Type Iv:

# Title Authors PMID Year
1
3-methylglutaconic aciduria type IV: a syndrome with an evolving phenotype. 38 8
21646875 2011
2
3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features. 8
15719488 2005
3
3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4'). 8
1382150 1992
4
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. 38
23296368 2013
5
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. 38
23918762 2013
6
Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes. 38
23382305 2013
7
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. 38
19015156 2009
8
3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome in 2 siblings. 38
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 TMEM70 SUCLA2 SERAC1 POLG OPA3 MYOM2

Sources for 3-Methylglutaconic Aciduria, Type Iv

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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