MCID: 3MT019
MIFTS: 36

3-Methylglutaconic Aciduria, Type Iv

Categories: Metabolic diseases, Rare diseases, Genetic diseases, Eye diseases, Neuronal diseases, Cardiovascular 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 73
Mga4 57 12 59
3-Methylglutaconic Aciduria Type Iv 12 73
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:

Orphanet: 59  
Inborn errors of metabolism


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 related phenotypes are microcephaly and hearing impairment

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

Symptoms via clinical synopsis from OMIM:

57
Abdomen:
inguinal hernia

GU:
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

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

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

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

Publications for 3-Methylglutaconic Aciduria, Type Iv

Articles related to 3-Methylglutaconic Aciduria, Type Iv:

# Title Authors Year
1
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
2
Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes. ( 23382305 )
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 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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