MAHCC
MCID: MTH054
MIFTS: 57

Methylmalonic Aciduria and Homocystinuria, Cblc Type (MAHCC)

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

Aliases & Classifications for Methylmalonic Aciduria and Homocystinuria, Cblc Type

MalaCards integrated aliases for Methylmalonic Aciduria and Homocystinuria, Cblc Type:

Name: Methylmalonic Aciduria and Homocystinuria, Cblc Type 57 20 72 13
Cobalamin C Disease 20 29 6
Vitamin B12 Metabolic Defect with Combined Deficiency of Methylmalonyl-Coa Mutase and Homocysteine:methyltetrahydrofolate Methyltransferase 57 72
Methylmalonic Aciduria and Homocystinuria, Cblc Type, Digenic 57 6
Methylmalonic Aciduria and Homocystinuria Type Cblc 12 15
Mahcc 57 72
Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis, Type Cblc 58
Methylmalonic Aciduria and Homocystinuria, Vitamin B12-Responsive 57
Methylmalonic Aciduria and Homocystinuria Vitamin B12-Responsive 72
Aciduria, Methylmalonic, and Homocystinuria, Cblc Type 39
Methylmalonic Acidemia with Homocystinuria, Type Cblc 58
Methylmalonic Aciduria with Homocystinuria, Type Cblc 58
Methylmalonic Acidemia and Homocystinuria, Cblc Type 57
Methylmalonic Acidemia with Homocystinuria Type Cblc 20
Methylmalonic Aciduria with Homocystinuria Cblc Type 6
Methylmalonic Acidemia and Homocystinuria Cblc Type 72
Methylmalonic Acidemia with Homocystinuria Cblc 29
Methylmalonic Acidemia and Homocystinuria Cblc 20
Methylmalonic Aciduria and Homocystinuria Cblc 20
Methylmalonic Acidemia with Homocystinuria 70
Cobalamin C Deficiency 12
Cobalamin C Defect 58
Cblc Defect 58
Cblc 20

Characteristics:

Orphanet epidemiological data:

58
methylmalonic acidemia with homocystinuria, type cblc
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset usually in first year of life
early-onset associated with more severe course and early death
adolescent or adult onset associated with neuropsychiatric symptoms
patients with later onset do not have dysmorphic features
variable response to vitamin b12 therapy
see also cbld


HPO:

31
methylmalonic aciduria and homocystinuria, cblc type:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare renal diseases
Inborn errors of metabolism
Rare haematological diseases


Summaries for Methylmalonic Aciduria and Homocystinuria, Cblc Type

OMIM® : 57 Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT; 609058) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR; 156570). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (277410), cblF (277380), and cblJ (614857). Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (251000) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (251100) is caused by mutation in the MMAA gene (607481) on 4q31; and MMA cblB (251110) is caused by mutation in the MMAB gene (607568) on 12q24. Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997). (277400) (Updated 05-Apr-2021)

MalaCards based summary : Methylmalonic Aciduria and Homocystinuria, Cblc Type, also known as cobalamin c disease, is related to methylmalonic aciduria, cblb type and methylmalonic aciduria due to methylmalonyl-coa mutase deficiency, and has symptoms including seizures and lethargy. An important gene associated with Methylmalonic Aciduria and Homocystinuria, Cblc Type is MMACHC (Metabolism Of Cobalamin Associated C), and among its related pathways/superpathways are HIV Life Cycle and Metabolism of water-soluble vitamins and cofactors. The drugs Methylcobalamin and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and heart, and related phenotypes are intellectual disability and methylmalonic aciduria

Disease Ontology : 12 A methylmalonic acidemia that has material basis in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase.

UniProtKB/Swiss-Prot : 72 Methylmalonic aciduria and homocystinuria, cblC type: An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood.

Related Diseases for Methylmalonic Aciduria and Homocystinuria, Cblc Type

Diseases related to Methylmalonic Aciduria and Homocystinuria, Cblc Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 152)
# Related Disease Score Top Affiliating Genes
1 methylmalonic aciduria, cblb type 31.7 MMACHC MMAB
2 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 31.6 MMUT MMACHC
3 methylmalonic acidemia with homocystinuria 31.3 PRDX1 MMADHC MMACHC HCFC1
4 methylmalonic aciduria, cbla type 31.2 MMUT MMADHC MMAB MMAA
5 disorders of intracellular cobalamin metabolism 31.0 PRDX1 MTR MMADHC MMACHC HCFC1
6 homocysteinemia 30.9 MTR MMACHC CBS
7 isolated methylmalonic acidemia 30.6 MMUT MMADHC MMAB MMAA
8 vitamin b12 deficiency 30.3 MTR MMUT MMACHC
9 kidney cortex necrosis 30.2 MMACHC ADAMTS13
10 propionic acidemia 30.2 MMUT MMADHC MMACHC MMAB MMAA
11 homocystinuria 30.0 SUOX PRDX1 MTR MMUT MMADHC MMACHC
12 methylmalonic acidemia 29.8 MTR MMUT MMADHC MMACHC MMAB MMAA
13 membranoproliferative glomerulonephritis 29.8 DGKE CFH CFB
14 malignant hypertension 29.7 CFH ADAMTS13
15 hemolytic-uremic syndrome 29.6 MMACHC DGKE CFH CFB ADAMTS13
16 megaloblastic anemia 29.6 MTR MMUT MMADHC MMACHC MMAA
17 hemolytic anemia 29.6 DGKE CFH CFB ADAMTS13
18 organic acidemia 29.4 MTR MMUT MMADHC MMACHC MMAB MMAA
19 hemolytic uremic syndrome, atypical 1 29.3 MMACHC DGKE CFH CFB ADAMTS13
20 maple syrup urine disease 29.3 SUOX MMUT MMADHC MMAA
21 deficiency anemia 29.1 MTR MMADHC MMAA CFH ADAMTS13
22 methylmalonic aciduria and homocystinuria, cblf type 10.9
23 methylmalonic aciduria and homocystinuria, cbld type 10.9
24 adenosylcobalamin deficiency 10.9
25 ataxia and polyneuropathy, adult-onset 10.5
26 thrombotic microangiopathy 10.5
27 retinal degeneration 10.4
28 homocystinuria due to cystathionine beta-synthase deficiency 10.4
29 scoliosis 10.4
30 demyelinating polyneuropathy 10.4
31 neuropathy 10.4
32 cerebral atrophy 10.4
33 pulmonary hypertension, primary, 1 10.2
34 acute kidney failure 10.2
35 combined malonic and methylmalonic aciduria 10.2 MMADHC MMAB
36 exudative glomerulonephritis 10.2 DGKE CFH
37 glutamate formiminotransferase deficiency 10.2 MTR MMAA
38 proteinuria, chronic benign 10.2
39 pathologic nystagmus 10.2
40 methylmalonic acidemia and homocysteinemia, cblx type 10.2 MTR MMACHC HCFC1
41 alpha-methylacetoacetic aciduria 10.2 MMACHC MMAA
42 nephrotic syndrome, type 7 10.1 DGKE CFH
43 catastrophic antiphospholipid syndrome 10.1 CFH ADAMTS13
44 thrombotic thrombocytopenic purpura, hereditary 10.1 CFH ADAMTS13
45 renal tubular acidosis, proximal 10.1
46 hydrocephalus 10.1
47 respiratory failure 10.1
48 renal tubular acidosis 10.1
49 thrombocytopenia 10.1
50 glomerulonephritis 10.1

Graphical network of the top 20 diseases related to Methylmalonic Aciduria and Homocystinuria, Cblc Type:



Diseases related to Methylmalonic Aciduria and Homocystinuria, Cblc Type

Symptoms & Phenotypes for Methylmalonic Aciduria and Homocystinuria, Cblc Type

Human phenotypes related to Methylmalonic Aciduria and Homocystinuria, Cblc Type:

58 31 (show top 50) (show all 96)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 methylmalonic aciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0012120
3 methylmalonic acidemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002912
4 megaloblastic anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001889
5 hyperhomocystinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002160
6 elevated circulating palmitoleylcarnitine concentration 31 hallmark (90%) HP:0031544
7 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
8 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
9 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
10 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
11 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
12 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001873
13 glomerulopathy 58 31 frequent (33%) Frequent (79-30%) HP:0100820
14 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
15 glossitis 58 31 frequent (33%) Frequent (79-30%) HP:0000206
16 pigmentary retinopathy 58 31 frequent (33%) Frequent (79-30%) HP:0000580
17 retinal degeneration 58 31 frequent (33%) Frequent (79-30%) HP:0000546
18 abnormality of macular pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0008002
19 macular coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0001116
20 stomatitis 58 31 frequent (33%) Frequent (79-30%) HP:0010280
21 neurological speech impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002167
22 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
23 hypothermia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002045
24 dehydration 58 31 occasional (7.5%) Occasional (29-5%) HP:0001944
25 renal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000083
26 hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001943
27 hydrops fetalis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001789
28 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
29 neurodevelopmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0012758
30 jaundice 58 31 occasional (7.5%) Occasional (29-5%) HP:0000952
31 dilated cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001644
32 neutropenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001875
33 hyperammonemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001987
34 memory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002354
35 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
36 lethargy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001254
37 infantile spasms 58 31 occasional (7.5%) Occasional (29-5%) HP:0012469
38 encephalopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001298
39 leukoencephalopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002352
40 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
41 cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002059
42 auditory hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0008765
43 poor fine motor coordination 58 31 occasional (7.5%) Occasional (29-5%) HP:0007010
44 personality changes 58 31 occasional (7.5%) Occasional (29-5%) HP:0000751
45 ketonuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002919
46 deep venous thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002625
47 thromboembolism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001907
48 atrophy of the spinal cord 58 31 occasional (7.5%) Occasional (29-5%) HP:0006827
49 peripheral demyelination 58 31 occasional (7.5%) Occasional (29-5%) HP:0011096
50 periventricular white matter hyperdensities 58 31 occasional (7.5%) Occasional (29-5%) HP:0030891

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
lethargy
hypotonia
developmental delay
mental retardation
more
Head And Neck Eyes:
nystagmus
pigmentary retinopathy
decreased visual acuity

Laboratory Abnormalities:
proteinuria
hematuria
methylmalonic aciduria
methylmalonic acidemia
cystathioninuria
more
Head And Neck Ears:
low-set ears
large, floppy ears

Metabolic Features:
metabolic acidosis

Genitourinary Kidneys:
hemolytic-uremic syndrome
renal failure
thrombotic microangiopathic nephropathy

Growth Other:
failure to thrive

Head And Neck Head:
hydrocephalus
microcephaly

Hematology:
anemia
thrombocytopenia
neutropenia
megaloblastic anemia

Head And Neck Face:
long face
high forehead
flat philtrum

Cardiovascular Vascular:
thromboembolism
thrombotic microangiopathy
vascular lesions

Abdomen Gastrointestinal:
poor feeding

Clinical features from OMIM®:

277400 (Updated 05-Apr-2021)

UMLS symptoms related to Methylmalonic Aciduria and Homocystinuria, Cblc Type:


seizures; lethargy

GenomeRNAi Phenotypes related to Methylmalonic Aciduria and Homocystinuria, Cblc Type according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.92 MMACHC MTR PRDX1 SUOX

Drugs & Therapeutics for Methylmalonic Aciduria and Homocystinuria, Cblc Type

Drugs for Methylmalonic Aciduria and Homocystinuria, Cblc Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylcobalamin Approved, Investigational Phase 2 13422-55-4
2
Hydroxocobalamin Approved Phase 2 13422-51-0 11953898 15589840
3
Cyanocobalamin Approved, Nutraceutical Phase 2 68-19-9 44176380
4
Cobalamin Experimental Phase 2 13408-78-1 6857388
5 Antioxidants Phase 2
6 Vitamin B12 Phase 2
7 Vitamin B 12 Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 2, Double-Blind, Placebo Controlled Clinical Trial of EPI-743 in Subjects With Cobalamin C Defect Completed NCT01793090 Phase 2 Epi-743

Search NIH Clinical Center for Methylmalonic Aciduria and Homocystinuria, Cblc Type

Genetic Tests for Methylmalonic Aciduria and Homocystinuria, Cblc Type

Genetic tests related to Methylmalonic Aciduria and Homocystinuria, Cblc Type:

# Genetic test Affiliating Genes
1 Cobalamin C Disease 29 MMACHC PRDX1
2 Methylmalonic Acidemia with Homocystinuria Cblc 29

Anatomical Context for Methylmalonic Aciduria and Homocystinuria, Cblc Type

MalaCards organs/tissues related to Methylmalonic Aciduria and Homocystinuria, Cblc Type:

40
Eye, Spinal Cord, Heart, Brain, Kidney, Liver, Lung

Publications for Methylmalonic Aciduria and Homocystinuria, Cblc Type

Articles related to Methylmalonic Aciduria and Homocystinuria, Cblc Type:

(show top 50) (show all 99)
# Title Authors PMID Year
1
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. 57 61 6
19370762 2009
2
Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. 61 57 6
17853453 2007
3
Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. 6 57 61
16714133 2006
4
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. 57 6 61
16311595 2006
5
Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience. 6 57
28151490 2017
6
Combined pulmonary hypertension and renal thrombotic microangiopathy in cobalamin C deficiency. 57 6
23837176 2013
7
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria. 6 57
20631720 2010
8
Late-onset cobalamin-C disorder: a challenging diagnosis. 6 57
17431913 2007
9
Adult-onset combined methylmalonic aciduria and homocystinuria (cblC). 6 57
11320193 2001
10
Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#. 6 61
26464686 2015
11
A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China. 61 6
22560872 2012
12
Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene. 6 61
21835369 2011
13
Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy. 6 61
20610126 2010
14
Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder. 61 6
20219402 2010
15
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. 61 6
19836982 2010
16
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. 61 6
18164228 2008
17
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). 6 61
17768669 2007
18
Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria. 6
30157807 2018
19
Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome. 6
29294253 2018
20
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. 6
29396438 2018
21
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. 57
29302025 2018
22
Dementia, diarrhea, desquamating shellac-like dermatitis revealing late-onset cobalamin C deficiency. 6
29379858 2018
23
Diagnosis of cobalamin C deficiency with renal abnormality from onset in a Chinese child by next generation sequencing: A case report. 6
29042959 2017
24
Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening. 6
28693988 2017
25
Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients. 6
28327205 2017
26
Molecular picture of cobalamin C/D defects before and after newborn screening era. 6
27252276 2017
27
Manic-depressive Psychosis as the Initial Symptom in Adult Siblings with Late-onset Combined Methylmalonic Aciduria and Homocystinemia, Cobalamin C Type. 6
28218226 2017
28
Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia. 6
26979128 2016
29
[Gene mutation analysis and prenatal diagnosis of four pedigrees with methymalonic aciduria]. 6
27751223 2016
30
NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine. 6
26990548 2016
31
Report - Report on the heterozygosis mutations of c.567dupT, p.(Ile190Tyrfs*13) of MMACHC gene in 1 Child patient with methylmalonic academia. 6
27383490 2016
32
Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China. 6
26563984 2016
33
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency. 6
26270766 2016
34
Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency. 6
26825575 2016
35
A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder. 6
26893841 2016
36
Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias. 6
27403441 2016
37
Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss. 6
26658511 2015
38
MMACHC gene mutation in familial hypogonadism with neurological symptoms. 6
26283149 2015
39
[Clinical analysis and follow-up study of cardiavascular system involvement in 10 children with methylmalonic aciduria combined with hyperhomocysteinemia]. 6
26412180 2015
40
Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC. 6
26149271 2015
41
Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency. 6
25894566 2015
42
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 6
25689098 2015
43
Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling. 6
25809485 2015
44
Co-occurrence of the Poland sequence in a patient with the cobalamin C defect: more than just a coincidence? 6
25388550 2015
45
Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy. 6
25687216 2015
46
Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level. 6
25772322 2015
47
A treatable metabolic cause of encephalopathy: cobalamin C deficiency in an 8-year-old male. 6
25511120 2015
48
[A case of late-onset cobalamin C disease (methylmalonic aciduria and homocystinuria, cobalamin C type)]. 6
25672861 2015
49
Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression. 6
25281006 2014
50
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy. 6
25398587 2014

Variations for Methylmalonic Aciduria and Homocystinuria, Cblc Type

ClinVar genetic disease variations for Methylmalonic Aciduria and Homocystinuria, Cblc Type:

6 (show top 50) (show all 223)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MMACHC NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp) SNV Pathogenic 161117 rs556977618 GRCh37: 1:45973222-45973222
GRCh38: 1:45507550-45507550
2 MMACHC NM_015506.3(MMACHC):c.276G>A (p.Glu92=) SNV Pathogenic 161118 rs556977618 GRCh37: 1:45973222-45973222
GRCh38: 1:45507550-45507550
3 MMACHC NM_015506.3(MMACHC):c.464G>A (p.Gly155Glu) SNV Pathogenic 161119 rs606231425 GRCh37: 1:45974502-45974502
GRCh38: 1:45508830-45508830
4 MMACHC NM_015506.3(MMACHC):c.270dup (p.Arg91Ter) Duplication Pathogenic 417860 rs1553162786 GRCh37: 1:45973214-45973215
GRCh38: 1:45507542-45507543
5 MMACHC , PRDX1 NM_181697.3(PRDX1):c.515-2A>T SNV Pathogenic 495210 rs1379672870 GRCh37: 1:45977088-45977088
GRCh38: 1:45511416-45511416
6 MMACHC NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro) SNV Pathogenic 495216 rs756980496 GRCh37: 1:45973104-45973104
GRCh38: 1:45507432-45507432
7 MMACHC , PRDX1 NM_181697.3(PRDX1):c.515-1G>T SNV Pathogenic 495209 rs751828470 GRCh37: 1:45977087-45977087
GRCh38: 1:45511415-45511415
8 MMACHC NM_015506.3(MMACHC):c.81G>A (p.Gln27=) SNV Pathogenic 495215 rs1553162317 GRCh37: 1:45966085-45966085
GRCh38: 1:45500413-45500413
9 MMACHC NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg) SNV Pathogenic 552467 rs546099787 GRCh37: 1:45966084-45966084
GRCh38: 1:45500412-45500412
10 MMACHC NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter) SNV Pathogenic 553788 rs528744719 GRCh37: 1:45973922-45973922
GRCh38: 1:45508250-45508250
11 MMACHC NM_015506.3(MMACHC):c.398_399del (p.Gln133fs) Deletion Pathogenic 553801 rs746135357 GRCh37: 1:45974005-45974006
GRCh38: 1:45508333-45508334
12 MMACHC NM_015506.3(MMACHC):c.567dup (p.Ile190fs) Duplication Pathogenic 556708 rs1463495909 GRCh37: 1:45974604-45974605
GRCh38: 1:45508932-45508933
13 MMACHC NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter) SNV Pathogenic 558292 rs747527726 GRCh37: 1:45974653-45974653
GRCh38: 1:45508981-45508981
14 MMACHC NM_015506.3(MMACHC):c.364dup (p.His122fs) Duplication Pathogenic 633604 rs1557607997 GRCh37: 1:45973968-45973969
GRCh38: 1:45508296-45508297
15 MMACHC NM_015506.3(MMACHC):c.89G>A (p.Trp30Ter) SNV Pathogenic 813347 rs1570829502 GRCh37: 1:45973035-45973035
GRCh38: 1:45507363-45507363
16 MMACHC NM_015506.3(MMACHC):c.626dup (p.Thr210fs) Duplication Pathogenic 813353 rs1570833527 GRCh37: 1:45974663-45974664
GRCh38: 1:45508991-45508992
17 MMACHC NC_000001.11:g.(?_45507336)_(45509235_?)del Deletion Pathogenic 832298 GRCh37: 1:45973008-45974907
GRCh38:
18 MMACHC NC_000001.11:g.(?_45500323)_(45509225_?)del Deletion Pathogenic 833292 GRCh37: 1:45965995-45974897
GRCh38:
19 MMACHC NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln) SNV Pathogenic 848845 GRCh37: 1:45974655-45974655
GRCh38: 1:45508983-45508983
20 MMACHC NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter) SNV Pathogenic 501284 rs759188647 GRCh37: 1:45973899-45973899
GRCh38: 1:45508227-45508227
21 MMACHC NM_015506.3(MMACHC):c.603_604del (p.Asp202fs) Deletion Pathogenic 942483 GRCh37: 1:45974640-45974641
GRCh38: 1:45508968-45508969
22 MMACHC NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro) SNV Pathogenic 854802 GRCh37: 1:45973128-45973128
GRCh38: 1:45507456-45507456
23 MMACHC NM_015506.3(MMACHC):c.429+1G>C SNV Pathogenic 858710 GRCh37: 1:45974037-45974037
GRCh38: 1:45508365-45508365
24 MMACHC NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg) SNV Pathogenic 552467 rs546099787 GRCh37: 1:45966084-45966084
GRCh38: 1:45500412-45500412
25 MMACHC NM_015506.3(MMACHC):c.285dup (p.Glu96fs) Duplication Pathogenic 557871 rs1553162821 GRCh37: 1:45973891-45973892
GRCh38: 1:45508219-45508220
26 MMACHC NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) SNV Pathogenic 558690 rs200895671 GRCh37: 1:45974603-45974603
GRCh38: 1:45508931-45508931
27 MMACHC NM_015506.3(MMACHC):c.567dup (p.Ile190fs) Duplication Pathogenic 556708 rs1463495909 GRCh37: 1:45974604-45974605
GRCh38: 1:45508932-45508933
28 MMACHC NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter) SNV Pathogenic 558292 rs747527726 GRCh37: 1:45974653-45974653
GRCh38: 1:45508981-45508981
29 MMACHC NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter) SNV Pathogenic 203827 rs796051996 GRCh37: 1:45974027-45974027
GRCh38: 1:45508355-45508355
30 MMACHC NM_015506.3(MMACHC):c.545_546GT[1] (p.Val183fs) Microsatellite Pathogenic 95704 rs1305170860 GRCh37: 1:45974582-45974583
GRCh38: 1:45508910-45508911
31 MMACHC NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) SNV Pathogenic 95706 rs398124295 GRCh37: 1:45974646-45974646
GRCh38: 1:45508974-45508974
32 MMACHC NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) SNV Pathogenic 496436 rs201266016 GRCh37: 1:45974704-45974704
GRCh38: 1:45509032-45509032
33 MMACHC NM_015506.3(MMACHC):c.3G>A (p.Met1Ile) SNV Pathogenic 203823 rs779893448 GRCh37: 1:45966007-45966007
GRCh38: 1:45500335-45500335
34 MMACHC NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter) SNV Pathogenic 550539 rs757325789 GRCh37: 1:45974495-45974495
GRCh38: 1:45508823-45508823
35 HCFC1 NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) SNV Pathogenic 66985 rs397515486 GRCh37: X:153230153-153230153
GRCh38: X:153964702-153964702
36 MMACHC NM_015506.3(MMACHC):c.3G>A (p.Met1Ile) SNV Pathogenic 203823 rs779893448 GRCh37: 1:45966007-45966007
GRCh38: 1:45500335-45500335
37 MMACHC NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter) SNV Pathogenic 550539 rs757325789 GRCh37: 1:45974495-45974495
GRCh38: 1:45508823-45508823
38 MMACHC NM_015506.3(MMACHC):c.545_546GT[1] (p.Val183fs) Microsatellite Pathogenic 95704 rs1305170860 GRCh37: 1:45974582-45974583
GRCh38: 1:45508910-45508911
39 MMACHC NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) SNV Pathogenic 95706 rs398124295 GRCh37: 1:45974646-45974646
GRCh38: 1:45508974-45508974
40 MMACHC NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) SNV Pathogenic 496436 rs201266016 GRCh37: 1:45974704-45974704
GRCh38: 1:45509032-45509032
41 MMACHC NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) SNV Pathogenic 1424 rs121918242 GRCh37: 1:45973938-45973938
GRCh38: 1:45508266-45508266
42 MMACHC NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) SNV Pathogenic 95703 rs370596113 GRCh37: 1:45974519-45974519
GRCh38: 1:45508847-45508847
43 MMACHC NM_015506.3(MMACHC):c.500del (p.Pro167fs) Deletion Pathogenic 553370 rs1553162918 GRCh37: 1:45974537-45974537
GRCh38: 1:45508865-45508865
44 MMACHC NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) Deletion Pathogenic 203835 rs796052000 GRCh37: 1:45973933-45973936
GRCh38: 1:45508261-45508264
45 MMACHC NM_015506.3(MMACHC):c.1A>G (p.Met1Val) SNV Pathogenic 381577 rs758477536 GRCh37: 1:45966005-45966005
GRCh38: 1:45500333-45500333
46 MMACHC NM_015506.3(MMACHC):c.352del (p.Gln118fs) Deletion Pathogenic 439905 rs749264632 GRCh37: 1:45973957-45973957
GRCh38: 1:45508285-45508285
47 MMACHC NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) Deletion Pathogenic 203835 rs796052000 GRCh37: 1:45973933-45973936
GRCh38: 1:45508261-45508264
48 MMACHC NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) SNV Pathogenic 1424 rs121918242 GRCh37: 1:45973938-45973938
GRCh38: 1:45508266-45508266
49 MMACHC NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) SNV Pathogenic 203829 rs140522266 GRCh37: 1:45974478-45974478
GRCh38: 1:45508806-45508806
50 MMACHC NM_015506.3(MMACHC):c.1A>G (p.Met1Val) SNV Pathogenic 381577 rs758477536 GRCh37: 1:45966005-45966005
GRCh38: 1:45500333-45500333

UniProtKB/Swiss-Prot genetic disease variations for Methylmalonic Aciduria and Homocystinuria, Cblc Type:

72 (show all 14)
# Symbol AA change Variation ID SNP ID
1 MMACHC p.Gln27Arg VAR_024770 rs546099787
2 MMACHC p.Leu116Pro VAR_024771 rs121918240
3 MMACHC p.His122Arg VAR_024772
4 MMACHC p.Tyr130His VAR_024773 rs372670428
5 MMACHC p.Gly147Ala VAR_024774 rs140522266
6 MMACHC p.Gly147Asp VAR_024775 rs140522266
7 MMACHC p.Gly156Asp VAR_024776 rs155316291
8 MMACHC p.Trp157Cys VAR_024777 rs100257180
9 MMACHC p.Arg161Gly VAR_024778 rs370596113
10 MMACHC p.Arg161Gln VAR_024779 rs121918243
11 MMACHC p.Arg189Ser VAR_024780 rs200895671
12 MMACHC p.Leu193Pro VAR_024781 rs123313508
13 MMACHC p.Arg206Pro VAR_024782 rs371753672
14 MMACHC p.Arg206Trp VAR_024783 rs538023671

Expression for Methylmalonic Aciduria and Homocystinuria, Cblc Type

Search GEO for disease gene expression data for Methylmalonic Aciduria and Homocystinuria, Cblc Type.

Pathways for Methylmalonic Aciduria and Homocystinuria, Cblc Type

Pathways related to Methylmalonic Aciduria and Homocystinuria, Cblc Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.34 PRDX1 MTR MMUT MMADHC MMACHC MMAA
2
Show member pathways
12.24 MTR MMUT MMADHC MMACHC MMAB MMAA
3
Show member pathways
11.99 PRDX1 MTR MMUT MMAB CBS
4
Show member pathways
11.64 SUOX MTR CBS
5
Show member pathways
11.32 MTR MMUT MMADHC MMACHC MMAA
6
Show member pathways
10.87 SUOX CBS
7 10.42 MTR MMUT MMADHC MMACHC MMAB MMAA
8
Show member pathways
9.92 MMUT MMAA

GO Terms for Methylmalonic Aciduria and Homocystinuria, Cblc Type

Cellular components related to Methylmalonic Aciduria and Homocystinuria, Cblc Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.92 SUOX MMUT MMAB MMAA

Biological processes related to Methylmalonic Aciduria and Homocystinuria, Cblc Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 complement activation, alternative pathway GO:0006957 9.32 CFH CFB
2 homocysteine metabolic process GO:0050667 9.26 MMUT CBS
3 short-chain fatty acid catabolic process GO:0019626 9.16 MMUT MMAA
4 cobalamin biosynthetic process GO:0009236 9.13 MMACHC MMAB MMAA
5 cobalamin metabolic process GO:0009235 9.1 MTR MMUT MMADHC MMACHC MMAB MMAA

Molecular functions related to Methylmalonic Aciduria and Homocystinuria, Cblc Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 modified amino acid binding GO:0072341 8.96 MMUT CBS
2 cobalamin binding GO:0031419 8.92 MTR MMUT MMACHC MMAB

Sources for Methylmalonic Aciduria and Homocystinuria, Cblc Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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