3-Methylglutaconic Aciduria, Type Iv disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: 3MT019 MIFTS: 36	3-Methylglutaconic Aciduria, Type Iv Categories: Metabolic diseases, Rare diseases, Genetic diseases, Eye diseases, Neuronal diseases, Cardiovascular diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes Download Expand all tables

Sources

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:

MalaCards categories:
Global: Metabolic diseases Rare diseases Genetic diseases
Anatomical: Eye diseases Neuronal diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism

Other disorders of branched-chain amino-acid metabolism

Orphanet: ⁵⁹

Inborn errors of metabolism

External Ids:

OMIM ⁵⁷ 250951

Disease Ontology ¹² DOID:0110006

Orphanet ⁵⁹ ORPHA67048

UMLS via Orphanet ⁷⁴ C0574085 C1855126

ICD10 via Orphanet ³⁴ E71.1

MedGen ⁴² C1855126

SNOMED-CT via HPO ⁶⁹ 258211005 396232000 204878001 more

UMLS ⁷³ C1855126 C0574085

Sources

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.

Sources

Related Diseases for 3-Methylglutaconic Aciduria, Type Iv

Diseases in the 3-Methylglutaconic Aciduria family:

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

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

(show all 12)

#	Related Disease	Score	Top Affiliating Genes
1	3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome	31.3	AUH DNAJC19 OPA3 SERAC1 TMEM70
2	3-methylglutaconic aciduria	29.3	AUH DNAJC19 OPA3 SERAC1 TMEM70
3	not otherwise specified 3-mga-uria type	11.6
4	organic acidemia	10.3	SERAC1 TMEM70
5	encephalopathy	10.0
6	leigh syndrome	10.0
7	cranial nerve disease	9.6	OPA3 POLG
8	ocular motility disease	9.6	POLG RYR1
9	3-methylglutaconic aciduria, type i	9.5	AUH DNAJC19 OPA3 TMEM70
10	peripheral nervous system disease	9.3	MYOM2 POLG
11	3-methylglutaconic aciduria, type iii	9.1	AUH DNAJC19 OPA3 SERAC1 TMEM70
12	3-methylglutaconic aciduria, type v	8.5	AUH DNAJC19 OPA3 POLG SERAC1 TMEM70

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

Sources

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

Sources

Drugs & Therapeutics for 3-Methylglutaconic Aciduria, Type Iv

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

Sources

Genetic Tests for 3-Methylglutaconic Aciduria, Type Iv

Sources

Anatomical Context for 3-Methylglutaconic Aciduria, Type Iv

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

⁴¹

Liver

Sources

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 )	Sarig O....Mandel H.	2013
2	Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes. ( 23382305 )	StojanoviA8 V....Doronjski A.	2013
3	3-methylglutaconic aciduria type IV: a syndrome with an evolving phenotype. ( 21646875 )	Wortmann S.B....Morava E.	2011
4	Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. ( 19015156 )	Wortmann S.B....Morava E.	2009
5	3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome in 2 siblings. ( 17621487 )	JareA+o N.M....Campos-CastellA^ J.	2007

Sources

Genes for 3-Methylglutaconic Aciduria, Type Iv

Genes related to 3-Methylglutaconic Aciduria, Type Iv (0 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SERAC1	Serine Active Site Containing 1	Protein Coding	24.83	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
2	TMEM70	Transmembrane Protein 70	Protein Coding	17.77	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	AUH	AU RNA Binding Methylglutaconyl-CoA Hydratase	Protein Coding	16.67	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	DNAJC19	DnaJ Heat Shock Protein Family (Hsp40) Member C19	Protein Coding	16.62	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	SUCLA2	Succinate-CoA Ligase ADP-Forming Beta Subunit	Protein Coding	16.17	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	OPA3	OPA3, Outer Mitochondrial Membrane Lipid Metabolism Regulator	Protein Coding	15.8	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	MYOM2	Myomesin 2	Protein Coding	15.12	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	RYR1	Ryanodine Receptor 1	Protein Coding	15.06	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	POLG	DNA Polymerase Gamma, Catalytic Subunit	Protein Coding	14.94	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	CA4	Carbonic Anhydrase 4	Protein Coding	14.66	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	ATRN	Attractin	Protein Coding	13.97	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

Sources

Variations for 3-Methylglutaconic Aciduria, Type Iv

Sources

Expression for 3-Methylglutaconic Aciduria, Type Iv

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

Sources

Pathways for 3-Methylglutaconic Aciduria, Type Iv

Sources

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

Sources for 3-Methylglutaconic Aciduria, Type Iv

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia