MCID: MTH021
MIFTS: 44

Methylmalonic Acidemia with Homocystinuria

Categories: Blood diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Methylmalonic Acidemia with Homocystinuria

MalaCards integrated aliases for Methylmalonic Acidemia with Homocystinuria:

Name: Methylmalonic Acidemia with Homocystinuria 20 43 58
Methylmalonic Acidemia and Homocystinemia 20 43
Methylmalonic Aciduria and Homocystinuria 43 36
Vitamin B12 Metabolic Defect with Combined Deficiency of Methylmalonyl-Coa Mutase and Homocysteine:methyltetrahydrofolate Methyltransferase 43
Vitamin B12 Metabolic Defect with Combined Deficiency of Methylmalonyl-Coa Mutase and Methionine Synthase Activities 43
Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis 58
Methylmalonic Aciduria with Homocystinuria 58
Methylmalonic Acidemia and Homocystinuria 43

Characteristics:

Orphanet epidemiological data:

58
methylmalonic acidemia with homocystinuria
Inheritance: Autosomal recessive,X-linked recessive; Age of onset: All ages;

Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare haematological diseases


Summaries for Methylmalonic Acidemia with Homocystinuria

MedlinePlus Genetics : 43 Methylmalonic acidemia with homocystinuria is an inherited disorder in which the body is unable to properly process protein building blocks (amino acids), certain fats (lipids), and a waxy fat-like substance called cholesterol. Individuals with this disorder have a combination of features from two separate conditions, methylmalonic acidemia and homocystinuria. The signs and symptoms of the combined condition, methylmalonic acidemia with homocystinuria, usually develop in infancy, although they can begin at any age.When the condition begins early in life, affected individuals typically have an inability to grow and gain weight at the expected rate (failure to thrive), which is sometimes recognized before birth (intrauterine growth retardation). These infants can also have difficulty feeding and an abnormally pale appearance (pallor). Neurological problems are also common in methylmalonic acidemia with homocystinuria, including weak muscle tone (hypotonia) and seizures. Most infants and children with this condition have an unusually small head size (microcephaly), delayed development, and intellectual disability. Less common features of the condition include eye problems and a blood disorder called megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic). The signs and symptoms of methylmalonic acidemia with homocystinuria worsen over time, and the condition can be life-threatening if not treated.When methylmalonic acidemia with homocystinuria begins in adolescence or adulthood, the signs and symptoms usually include psychiatric changes and cognitive problems. Affected individuals can exhibit changes in their behavior and personality; they may become less social and may experience hallucinations, delirium, and psychosis. In addition, these individuals can begin to lose previously acquired mental and movement abilities, resulting in a decline in school or work performance, difficulty controlling movements, memory problems, speech difficulties, a decline in intellectual function (dementia), or an extreme lack of energy (lethargy). Some people with methylmalonic acidemia with homocystinuria whose signs and symptoms begin later in life develop a condition called subacute combined degeneration of the spinal cord, which leads to numbness and weakness in the lower limbs, difficulty walking, and frequent falls.

MalaCards based summary : Methylmalonic Acidemia with Homocystinuria, also known as methylmalonic acidemia and homocystinemia, is related to methylmalonic acidemia and homocysteinemia, cblx type and methylmalonic aciduria and homocystinuria, cblc type. An important gene associated with Methylmalonic Acidemia with Homocystinuria is MMACHC (Metabolism Of Cobalamin Associated C), and among its related pathways/superpathways are Vitamin digestion and absorption 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 bone marrow, and related phenotypes are intellectual disability and failure to thrive

GARD : 20 Methylmalonic acidemia with homocystinuria is an inherited disorder in which the body is unable to properly process certain nutrients from food including amino acids, lipids and cholesterol. People with this disorder have a combination of features from two separate conditions: methylmalonic acidemia and homocystinuria. When the condition begins early in life, babies have difficulty gaining weight ( failure to thrive ), feeding difficulties, and a pale appearance. Babies may also have weak muscle tone ( hypotonia ) and seizures. Most babies and children with this condition have an unusually small head size ( microcephaly ), intellectual disability and developmental delay. Less common features of the condition include eye problems and a blood disorder called megaloblastic anemia. When the disorder begins in adolescence or adulthood, the signs and symptoms usually include behavior and personality changes and cognitive problems (issues with learning, memory, perception etc). In some cases, abilities are lost, resulting in a decline of performance, memory and speech problems, dementia and lethargy.[12470 Methylmalonic acidemia with homocystinuria can be caused by mutations in one of several genes : MMACHC, MMADHC, LMBRD1, ABCD4, or HCFC1. Mutations in these genes account for the different types of the disorder, cblC, cblD, cblF, cblJ, and cblX, respectively. Although there is no cure for this conditions, treatment may include int ramuscular injections of hydroxycobalamin, oral betaine, and folic acid.

KEGG : 36 Methylmalonic aciduria and homocystinuria (MAHC) is caused by defects of intracellular cobalamin (vitamin B12) metabolism. Derivatives of cobalamin are essential cofactors for enzymes required in intermediary metabolism, and its defects lead to the accumulation of methylmalonic acid and/or homocysteine in blood and urine. Affected persons present with multisystem clinical abnormalities, including developmental, hematologic, neurologic, and metabolic findings.

Related Diseases for Methylmalonic Acidemia with Homocystinuria

Diseases related to Methylmalonic Acidemia with Homocystinuria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 methylmalonic acidemia and homocysteinemia, cblx type 31.8 MMACHC HCFC1
2 methylmalonic aciduria and homocystinuria, cblc type 31.3 PRDX1 MMADHC MMACHC HCFC1
3 propionic acidemia 29.9 MMADHC MMACHC
4 methylmalonic acidemia 29.4 MMADHC-DT MMADHC MMACHC ABCD4
5 homocystinuria 29.3 PRDX1 MMADHC MMACHC ABCD4
6 disorders of intracellular cobalamin metabolism 28.7 PRDX1 MMADHC-DT MMADHC MMACHC HCFC1 ABCD4
7 methylmalonic aciduria and homocystinuria, cbld type 11.7
8 methylmalonic aciduria and homocystinuria, cblj type 11.7
9 methylmalonic aciduria and homocystinuria, cblf type 11.5
10 methylmalonic aciduria and homocystinuria type cble 11.5
11 methylmalonic aciduria and homocystinuria type cblg 11.5
12 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 11.3
13 methylmalonic aciduria, cbla type 11.3
14 methylmalonic aciduria, cblb type 11.3
15 3-methylglutaconic aciduria, type iii 10.5
16 hemolytic-uremic syndrome 10.3
17 hypotonia 10.3
18 thrombotic microangiopathy 10.3
19 strabismus 10.3
20 ataxia and polyneuropathy, adult-onset 10.3
21 vitamin b12 deficiency 10.3
22 pancytopenia 10.3
23 hemolytic anemia 10.3
24 mechanical strabismus 10.3
25 microcephaly 10.3
26 hydrocephalus 10.3
27 isolated methylmalonic acidemia 10.2
28 hemolytic uremic syndrome, atypical 1 10.2
29 autosomal recessive disease 10.2
30 metabolic acidosis 10.2
31 dilated cardiomyopathy 10.2
32 bronchiolitis 10.2
33 acute kidney failure 10.2
34 retinal degeneration 10.2
35 acute cor pulmonale 10.2
36 pulmonary embolism 10.2
37 pathologic nystagmus 10.2
38 macular dystrophy, concentric annular 10.2
39 homocystinuria due to cystathionine beta-synthase deficiency 10.2
40 optic atrophy 6 10.2
41 retinitis pigmentosa 10.2
42 transcobalamin ii deficiency 10.2
43 macular degeneration, age-related, 1 10.2
44 orthostatic intolerance 10.2
45 atrial septal defect 2 10.2
46 ventricular septal defect 1 10.2
47 deficiency anemia 10.2
48 pulmonary hypertension 10.2
49 scoliosis 10.2
50 neuroretinitis 10.2

Graphical network of the top 20 diseases related to Methylmalonic Acidemia with Homocystinuria:



Diseases related to Methylmalonic Acidemia with Homocystinuria

Symptoms & Phenotypes for Methylmalonic Acidemia with Homocystinuria

Human phenotypes related to Methylmalonic Acidemia with Homocystinuria:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
5 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
6 retinopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000488
7 amblyopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000646
8 lethargy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001254
9 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
10 megaloblastic bone marrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0001980
11 seizure 31 hallmark (90%) HP:0001250
12 hypotonia 31 hallmark (90%) HP:0001252
13 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
14 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
15 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
16 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
17 skin rash 58 31 occasional (7.5%) Occasional (29-5%) HP:0000988
18 seizures 58 Very frequent (99-80%)
19 muscular hypotonia 58 Very frequent (99-80%)
20 malformation of the heart and great vessels 58 Frequent (79-30%)
21 abnormality of movement 58 Frequent (79-30%)

Drugs & Therapeutics for Methylmalonic Acidemia with Homocystinuria

Drugs for Methylmalonic Acidemia with Homocystinuria (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 Acidemia with Homocystinuria

Genetic Tests for Methylmalonic Acidemia with Homocystinuria

Anatomical Context for Methylmalonic Acidemia with Homocystinuria

MalaCards organs/tissues related to Methylmalonic Acidemia with Homocystinuria:

40
Eye, Spinal Cord, Bone Marrow, Bone, Heart, Retina

Publications for Methylmalonic Acidemia with Homocystinuria

Articles related to Methylmalonic Acidemia with Homocystinuria:

(show top 50) (show all 145)
# Title Authors PMID Year
1
Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria. 61 6
30157807 2018
2
Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia. 6 61
26979128 2016
3
Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss. 6 61
26658511 2015
4
Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC. 6 61
26149271 2015
5
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 61 6
25689098 2015
6
[A case of late-onset cobalamin C disease (methylmalonic aciduria and homocystinuria, cobalamin C type)]. 6 61
25672861 2015
7
Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#. 6 61
26464686 2015
8
Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy. 61 6
25687216 2015
9
Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency. 6 61
24210589 2014
10
Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type. 6 61
24126030 2014
11
Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation. 6 61
24577983 2013
12
Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria. 6 61
22447314 2012
13
A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China. 6 61
22560872 2012
14
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
15
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria. 6 61
20631720 2010
16
Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy. 6 61
20610126 2010
17
Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder. 61 6
20219402 2010
18
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. 6 61
19836982 2010
19
High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria. 61 6
19767224 2009
20
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. 61 6
19370762 2009
21
Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type. 61 6
18848477 2008
22
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. 61 6
18164228 2008
23
Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. 61 6
17853453 2007
24
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). 6 61
17768669 2007
25
Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. 6 61
16714133 2006
26
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. 61 6
16311595 2006
27
Adult-onset combined methylmalonic aciduria and homocystinuria (cblC). 6 61
11320193 2001
28
Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency. 6 61
11261516 2001
29
Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome. 6
29294253 2018
30
Dementia, diarrhea, desquamating shellac-like dermatitis revealing late-onset cobalamin C deficiency. 6
29379858 2018
31
Diagnosis of cobalamin C deficiency with renal abnormality from onset in a Chinese child by next generation sequencing: A case report. 6
29042959 2017
32
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
33
Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience. 6
28151490 2017
34
Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients. 6
28327205 2017
35
Molecular picture of cobalamin C/D defects before and after newborn screening era. 6
27252276 2017
36
Manic-depressive Psychosis as the Initial Symptom in Adult Siblings with Late-onset Combined Methylmalonic Aciduria and Homocystinemia, Cobalamin C Type. 6
28218226 2017
37
[Gene mutation analysis and prenatal diagnosis of four pedigrees with methymalonic aciduria]. 6
27751223 2016
38
NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine. 6
26990548 2016
39
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
40
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
41
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
42
Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency. 6
26825575 2016
43
A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder. 6
26893841 2016
44
Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias. 6
27403441 2016
45
MMACHC gene mutation in familial hypogonadism with neurological symptoms. 6
26283149 2015
46
[Clinical analysis and follow-up study of cardiavascular system involvement in 10 children with methylmalonic aciduria combined with hyperhomocysteinemia]. 6
26412180 2015
47
Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency. 6
25894566 2015
48
Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling. 6
25809485 2015
49
Co-occurrence of the Poland sequence in a patient with the cobalamin C defect: more than just a coincidence? 6
25388550 2015
50
Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level. 6
25772322 2015

Variations for Methylmalonic Acidemia with Homocystinuria

ClinVar genetic disease variations for Methylmalonic Acidemia with Homocystinuria:

6 (show top 50) (show all 168)
# 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 NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg) SNV Pathogenic 552467 rs546099787 GRCh37: 1:45966084-45966084
GRCh38: 1:45500412-45500412
6 MMACHC NM_015506.3(MMACHC):c.364dup (p.His122fs) Duplication Pathogenic 633604 rs1557607997 GRCh37: 1:45973968-45973969
GRCh38: 1:45508296-45508297
7 MMACHC NM_015506.3(MMACHC):c.567dup (p.Ile190fs) Duplication Pathogenic 556708 rs1463495909 GRCh37: 1:45974604-45974605
GRCh38: 1:45508932-45508933
8 MMACHC NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter) SNV Pathogenic 558292 rs747527726 GRCh37: 1:45974653-45974653
GRCh38: 1:45508981-45508981
9 MMACHC NM_015506.3(MMACHC):c.89G>A (p.Trp30Ter) SNV Pathogenic 813347 rs1570829502 GRCh37: 1:45973035-45973035
GRCh38: 1:45507363-45507363
10 MMACHC NM_015506.3(MMACHC):c.398_399del (p.Gln133fs) Deletion Pathogenic 553801 rs746135357 GRCh37: 1:45974005-45974006
GRCh38: 1:45508333-45508334
11 MMACHC NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter) SNV Pathogenic 553788 rs528744719 GRCh37: 1:45973922-45973922
GRCh38: 1:45508250-45508250
12 MMACHC NM_015506.3(MMACHC):c.626dup (p.Thr210fs) Duplication Pathogenic 813353 rs1570833527 GRCh37: 1:45974663-45974664
GRCh38: 1:45508991-45508992
13 MMACHC NC_000001.11:g.(?_45507336)_(45509235_?)del Deletion Pathogenic 832298 GRCh37: 1:45973008-45974907
GRCh38:
14 MMACHC NC_000001.11:g.(?_45500323)_(45509225_?)del Deletion Pathogenic 833292 GRCh37: 1:45965995-45974897
GRCh38:
15 MMACHC NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln) SNV Pathogenic 848845 GRCh37: 1:45974655-45974655
GRCh38: 1:45508983-45508983
16 MMACHC NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter) SNV Pathogenic 501284 rs759188647 GRCh37: 1:45973899-45973899
GRCh38: 1:45508227-45508227
17 MMACHC NM_015506.3(MMACHC):c.603_604del (p.Asp202fs) Deletion Pathogenic 942483 GRCh37: 1:45974640-45974641
GRCh38: 1:45508968-45508969
18 MMACHC NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro) SNV Pathogenic 854802 GRCh37: 1:45973128-45973128
GRCh38: 1:45507456-45507456
19 MMACHC NM_015506.3(MMACHC):c.429+1G>C SNV Pathogenic 858710 GRCh37: 1:45974037-45974037
GRCh38: 1:45508365-45508365
20 MMACHC NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter) SNV Pathogenic 203827 rs796051996 GRCh37: 1:45974027-45974027
GRCh38: 1:45508355-45508355
21 MMACHC NM_015506.3(MMACHC):c.545_546GT[1] (p.Val183fs) Microsatellite Pathogenic 95704 rs1305170860 GRCh37: 1:45974582-45974583
GRCh38: 1:45508910-45508911
22 MMACHC NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) SNV Pathogenic 95706 rs398124295 GRCh37: 1:45974646-45974646
GRCh38: 1:45508974-45508974
23 MMACHC NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) SNV Pathogenic 496436 rs201266016 GRCh37: 1:45974704-45974704
GRCh38: 1:45509032-45509032
24 MMACHC NM_015506.3(MMACHC):c.3G>A (p.Met1Ile) SNV Pathogenic 203823 rs779893448 GRCh37: 1:45966007-45966007
GRCh38: 1:45500335-45500335
25 MMACHC NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter) SNV Pathogenic 550539 rs757325789 GRCh37: 1:45974495-45974495
GRCh38: 1:45508823-45508823
26 MMACHC NM_015506.3(MMACHC):c.500del (p.Pro167fs) Deletion Pathogenic 553370 rs1553162918 GRCh37: 1:45974537-45974537
GRCh38: 1:45508865-45508865
27 HCFC1 NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) SNV Pathogenic 66985 rs397515486 GRCh37: X:153230153-153230153
GRCh38: X:153964702-153964702
28 MMACHC NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) SNV Pathogenic 1424 rs121918242 GRCh37: 1:45973938-45973938
GRCh38: 1:45508266-45508266
29 MMACHC NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) SNV Pathogenic 95703 rs370596113 GRCh37: 1:45974519-45974519
GRCh38: 1:45508847-45508847
30 MMACHC NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) Deletion Pathogenic 203835 rs796052000 GRCh37: 1:45973933-45973936
GRCh38: 1:45508261-45508264
31 MMACHC NM_015506.3(MMACHC):c.1A>G (p.Met1Val) SNV Pathogenic 381577 rs758477536 GRCh37: 1:45966005-45966005
GRCh38: 1:45500333-45500333
32 MMACHC NM_015506.3(MMACHC):c.352del (p.Gln118fs) Deletion Pathogenic 439905 rs749264632 GRCh37: 1:45973957-45973957
GRCh38: 1:45508285-45508285
33 MMACHC NM_015506.3(MMACHC):c.81+1G>A SNV Pathogenic 859433 GRCh37: 1:45966086-45966086
GRCh38: 1:45500414-45500414
34 MMACHC NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) SNV Pathogenic 1423 rs121918241 GRCh37: 1:45974001-45974001
GRCh38: 1:45508329-45508329
35 MMACHC NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) SNV Pathogenic 1425 rs121918243 GRCh37: 1:45974520-45974520
GRCh38: 1:45508848-45508848
36 MMACHC NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) SNV Pathogenic 30800 rs587776889 GRCh37: 1:45974647-45974647
GRCh38: 1:45508975-45508975
37 MMACHC NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter) SNV Pathogenic 281007 rs747527726 GRCh37: 1:45974653-45974653
GRCh38: 1:45508981-45508981
38 MMACHC NM_015506.3(MMACHC):c.658_660del (p.Lys220del) Deletion Pathogenic 95707 rs398124296 GRCh37: 1:45974694-45974696
GRCh38: 1:45509022-45509024
39 MMACHC NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter) SNV Pathogenic 203825 rs796051995 GRCh37: 1:45973163-45973163
GRCh38: 1:45507491-45507491
40 MMACHC NM_015506.3(MMACHC):c.441_442TG[2] (p.Cys149fs) Microsatellite Pathogenic 203834 rs796051999 GRCh37: 1:45974478-45974479
GRCh38: 1:45508806-45508807
41 PRDX1 NM_181697.3(PRDX1):c.261-2A>G SNV Pathogenic 1032834 GRCh37: 1:45980669-45980669
GRCh38: 1:45514997-45514997
42 PRDX1 NM_181697.3(PRDX1):c.94_97del (p.Ser32fs) Deletion Pathogenic 1032835 GRCh37: 1:45984619-45984622
GRCh38: 1:45518947-45518950
43 MMACHC NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) SNV Pathogenic/Likely pathogenic 1422 rs121918240 GRCh37: 1:45973954-45973954
GRCh38: 1:45508282-45508282
44 MMACHC NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) SNV Pathogenic/Likely pathogenic 203828 rs140522266 GRCh37: 1:45974478-45974478
GRCh38: 1:45508806-45508806
45 MMACHC NM_015506.3(MMACHC):c.382_384TAC[2] (p.Tyr130del) Microsatellite Pathogenic/Likely pathogenic 203833 rs796051998 GRCh37: 1:45973989-45973991
GRCh38: 1:45508317-45508319
46 MMACHC NM_015506.3(MMACHC):c.578T>C (p.Leu193Pro) SNV Pathogenic/Likely pathogenic 813352 rs1233135084 GRCh37: 1:45974616-45974616
GRCh38: 1:45508944-45508944
47 MMACHC NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) SNV Pathogenic/Likely pathogenic 203829 rs140522266 GRCh37: 1:45974478-45974478
GRCh38: 1:45508806-45508806
48 MMACHC NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) Deletion Pathogenic/Likely pathogenic 556017 rs1553162923 GRCh37: 1:45974542-45974554
GRCh38: 1:45508870-45508882
49 MMACHC NM_015506.3(MMACHC):c.82-1G>A SNV Pathogenic/Likely pathogenic 556698 rs1255179780 GRCh37: 1:45973027-45973027
GRCh38: 1:45507355-45507355
50 MMACHC NM_015506.3(MMACHC):c.565del (p.Arg189fs) Deletion Pathogenic/Likely pathogenic 553238 rs1257204721 GRCh37: 1:45974602-45974602
GRCh38: 1:45508930-45508930

Expression for Methylmalonic Acidemia with Homocystinuria

Search GEO for disease gene expression data for Methylmalonic Acidemia with Homocystinuria.

Pathways for Methylmalonic Acidemia with Homocystinuria

Pathways related to Methylmalonic Acidemia with Homocystinuria according to KEGG:

36
# Name Kegg Source Accession
1 Vitamin digestion and absorption hsa04977

Pathways related to Methylmalonic Acidemia with Homocystinuria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.74 MMADHC MMACHC ABCD4
2
Show member pathways
11.23 MMADHC MMACHC
3 11.07 PRDX1 ABCD4
4 10.12 MMADHC MMACHC ABCD4

GO Terms for Methylmalonic Acidemia with Homocystinuria

Biological processes related to Methylmalonic Acidemia with Homocystinuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cobalamin metabolic process GO:0009235 8.8 MMADHC MMACHC ABCD4

Sources for Methylmalonic Acidemia with Homocystinuria

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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