MCID: 3MT017
MIFTS: 28

3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic Involvement and Neutropenia

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

Aliases & Classifications for 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic...

MalaCards integrated aliases for 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic Involvement and Neutropenia:

Name: 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic Involvement and Neutropenia 54 71
Mgca7 12 24 71
3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement and Neutropenia 12 71
3-Methylglutaconic Aciduria Type 7 12 56
Megcann 12 71
Mga7 12 56
3-Methylglutaconic Aciduria Type 7 with Cataracts, Neurologic Involvement and Neutropenia 24
3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia 29
3-Methylglutaconic Aciduria-Cataract-Neurologic Involvement-Neutropenia Syndrome 56
3-Methylglutaconic Aciduria, Type Vii 71
3-Methylglutaconic Aciduria Type Vii 12
3-Methylglutaconic Aciduria 7 71

Characteristics:

Orphanet epidemiological data:

56
3-methylglutaconic aciduria type 7
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset at birth
highly variable phenotype
onset in utero in severely affected patients
death often in childhood


HPO:

32
3-methylglutaconic aciduria, type vii, with cataracts, neurologic involvement and neutropenia:
Onset and clinical course phenotypic variability progressive congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic...

OMIM : 54
3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections (summary by Wortmann et al., 2015 and Saunders et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (250950). (616271)

MalaCards based summary : 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic Involvement and Neutropenia, also known as mgca7, is related to clpb deficiency and 3-methylglutaconic aciduria, type viii, and has symptoms including recurrent infections, neutropenia and spasticity. An important gene associated with 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic Involvement and Neutropenia is CLPB (ClpB Homolog, Mitochondrial AAA ATPase Chaperonin). Affiliated tissues include bone, bone marrow and eye.

UniProtKB/Swiss-Prot : 71 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia: An autosomal recessive inborn error of metabolism with a highly variable phenotype. Primary disease symptoms are increased levels of 3-methylglutaconic acid, neurologic deterioration and neutropenia. Other common features include progressive encephalopathy, movement abnormalities, delayed psychomotor development, cataracts, seizures, and recurrent infections.

Disease Ontology : 12 A 3-methylglutaconic aciduria that has material basis in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13.

Related Diseases for 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic...

Diseases related to 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic Involvement and Neutropenia via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 clpb deficiency 11.4
2 3-methylglutaconic aciduria, type viii 11.2

Symptoms & Phenotypes for 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic...

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
seizures (in some patients)
spasticity
cerebral atrophy
pyramidal signs
abnormal movements
more
Abdomen- Gastroin testinal:
poor feeding

Muscle Soft Tissue:
hypotonia, neonatal
increased muscle tone, neonatal (in severely affected patients)

Immunology:
recurrent infections (in some patients)
neutropenia (in most patients)
bone marrow shows deficient granulopoiesis

Laboratory- Abnormalities:
increased urinary 2-methylglutaconic acid

Head And Neck- Head:
microcephaly

Growth- Other:
poor growth

Head And Neck- Face:
dysmorphic facial features (in some patients)

Head And Neck- Eyes:
cataracts (in most patients)


Clinical features from OMIM:

616271

Human phenotypes related to 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic Involvement and Neutropenia:

32 (show all 18)
id Description HPO Frequency HPO Source Accession
1 recurrent infections 32 occasional (7.5%) HP:0002719
2 neutropenia 32 hallmark (90%) HP:0001875
3 spasticity 32 HP:0001257
4 cerebral atrophy 32 HP:0002059
5 seizures 32 occasional (7.5%) HP:0001250
6 microcephaly 32 HP:0000252
7 global developmental delay 32 hallmark (90%) HP:0001263
8 neonatal hypotonia 32 HP:0001319
9 intellectual disability 32 HP:0001249
10 cataract 32 hallmark (90%) HP:0000518
11 cerebellar atrophy 32 HP:0001272
12 feeding difficulties 32 HP:0011968
13 muscular hypotonia 32 HP:0001252
14 developmental regression 32 occasional (7.5%) HP:0002376
15 growth delay 32 HP:0001510
16 abnormal pyramidal signs 32 HP:0007256
17 abnormal facial shape 32 occasional (7.5%) HP:0001999
18 abnormality of extrapyramidal motor function 32 HP:0002071

Drugs & Therapeutics for 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic...

Search Clinical Trials , NIH Clinical Center for 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic Involvement and Neutropenia

Genetic Tests for 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic...

Genetic tests related to 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic Involvement and Neutropenia:

id Genetic test Affiliating Genes
1 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia 29
2 3-Methylglutaconic Aciduria Type 7 with Cataracts, Neurologic Involvement and Neutropenia 24 CLPB

Anatomical Context for 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic...

MalaCards organs/tissues related to 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic Involvement and Neutropenia:

39
Bone, Bone Marrow, Eye

Publications for 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic...

Variations for 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic...

UniProtKB/Swiss-Prot genetic disease variations for 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic Involvement and Neutropenia:

71 (show all 11)
id Symbol AA change Variation ID SNP ID
1 CLPB p.Thr268Met VAR_073397 rs200032855
2 CLPB p.Tyr272Cys VAR_073398 rs777313457
3 CLPB p.Arg408Gly VAR_073399 rs144078282
4 CLPB p.Met411Ile VAR_073400 rs786205137
5 CLPB p.Cys486Arg VAR_073402
6 CLPB p.Glu501Lys VAR_073403 rs748915609
7 CLPB p.Tyr567Cys VAR_073404 rs150857620
8 CLPB p.Ala591Val VAR_073405 rs748010262
9 CLPB p.Tyr617Cys VAR_073406 rs786205138
10 CLPB p.Gly646Val VAR_073407 rs759500860
11 CLPB p.Ile682Asn VAR_073408

ClinVar genetic disease variations for 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic Involvement and Neutropenia:

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1 CLPB NM_030813.5(CLPB): c.1305_1307invGGG (p.Glu435_Gly436delinsAsp) inversion Pathogenic GRCh38 Chromosome 11, 72301915: 72301917
2 CLPB NM_030813.5(CLPB): c.1937G> T (p.Gly646Val) single nucleotide variant Pathogenic rs759500860 GRCh38 Chromosome 11, 72293554: 72293554
3 CLPB NM_030813.5(CLPB): c.1772C> T (p.Ala591Val) single nucleotide variant Pathogenic rs748010262 GRCh38 Chromosome 11, 72294125: 72294125
4 CLPB NM_030813.5(CLPB): c.1233G> A (p.Met411Ile) single nucleotide variant Pathogenic rs786205137 GRCh38 Chromosome 11, 72302328: 72302328
5 CLPB NM_030813.5(CLPB): c.1850A> G (p.Tyr617Cys) single nucleotide variant Pathogenic rs786205138 GRCh37 Chromosome 11, 72005091: 72005091
6 CLPB NM_030813.5(CLPB): c.1222A> G (p.Arg408Gly) single nucleotide variant Pathogenic/Likely pathogenic rs144078282 GRCh38 Chromosome 11, 72302339: 72302339
7 CLPB NM_030813.5(CLPB): c.1249C> T (p.Arg417Ter) single nucleotide variant Pathogenic rs200203460 GRCh37 Chromosome 11, 72013356: 72013356
8 CLPB NM_030813.5(CLPB): c.803C> T (p.Thr268Met) single nucleotide variant Pathogenic rs200032855 GRCh37 Chromosome 11, 72069986: 72069986
9 CLPB NM_030813.5(CLPB): c.961A> T (p.Lys321Ter) single nucleotide variant Pathogenic rs786205139 GRCh38 Chromosome 11, 72329709: 72329709
10 CLPB NM_030813.5(CLPB): c.1685delT (p.Ile562Thrfs) deletion Pathogenic rs876657402 GRCh37 Chromosome 11, 72005454: 72005454
11 CLPB NM_030813.5(CLPB): c.2045T> A (p.Ile682Asn) single nucleotide variant Pathogenic rs886041120 GRCh38 Chromosome 11, 72293446: 72293446
12 CLPB NM_030813.5(CLPB): c.1937dupG (p.Cys647Leufs) duplication Pathogenic rs886041119 GRCh38 Chromosome 11, 72293554: 72293554
13 CLPB NM_030813.5(CLPB): c.1915G> A (p.Glu639Lys) single nucleotide variant Pathogenic rs375934856 GRCh38 Chromosome 11, 72293576: 72293576
14 CLPB NM_030813.5(CLPB): c.1700A> G (p.Tyr567Cys) single nucleotide variant Pathogenic rs150857620 GRCh38 Chromosome 11, 72294395: 72294395
15 CLPB NM_030813.5(CLPB): c.1501G> A (p.Glu501Lys) single nucleotide variant Pathogenic rs748915609 GRCh38 Chromosome 11, 72295567: 72295567
16 CLPB NM_030813.5(CLPB): c.1456T> C (p.Cys486Arg) single nucleotide variant Pathogenic rs886041118 GRCh38 Chromosome 11, 72295612: 72295612
17 CLPB NM_030813.5(CLPB): c.815A> G (p.Tyr272Cys) single nucleotide variant Pathogenic rs777313457 GRCh38 Chromosome 11, 72358930: 72358930
18 CLPB NM_030813.5(CLPB): c.805G> A (p.Ala269Thr) single nucleotide variant Pathogenic rs886041117 GRCh37 Chromosome 11, 72069984: 72069984
19 CLPB NM_030813.5(CLPB): c.748C> T (p.Arg250Ter) single nucleotide variant Pathogenic rs777202372 GRCh38 Chromosome 11, 72358997: 72358997

Expression for 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic...

Search GEO for disease gene expression data for 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic Involvement and Neutropenia.

Pathways for 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic...

GO Terms for 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic...

Sources for 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic...

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