MAHCF
MCID: MTH056
MIFTS: 43

Methylmalonic Aciduria and Homocystinuria, Cblf Type (MAHCF)

Categories: Blood diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Methylmalonic Aciduria and Homocystinuria, Cblf Type

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

Name: Methylmalonic Aciduria and Homocystinuria, Cblf Type 57 73 12 71
Methylmalonic Aciduria and Homocystinuria Type Cblf 11 28 5 14
Methylmalonic Aciduria Due to Vitamin B12-Release Defect 57 73
Vitamin B12 Lysosomal Release Defect 57 73
Cobalamin F Disease 57 73
Mahcf 57 73
Cblf 57 73
Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis, Type Cblf 58
Aciduria, Methylmalonic, and Homocystinuria, Cblf Type 38
Methylmalonic Aciduria with Homocystinuria, Type Cblf 58
Methylmalonic Acidemia and Homocystinuria, Cblf Type 57
Methylmalonic Acidemia with Homocystinuria Type Cblf 58
Lysosomal Membrane Cobalamin Transporter Deficiency 58
Methylmalonic Acidemia and Homocystinuria Cblf Type 73
Cobalamin, Defect in Lysosomal Release of 57
Methylcobalamin Deficiency Tape F 73
Vitamin B12 Storage Disease 57
Vitamin B12 Storage Defect 73
Cobalamin F Deficiency 11
Cobalamin F Defect 58
Cblf Defect 58

Characteristics:


Inheritance:

Methylmalonic Aciduria and Homocystinuria, Cblf Type: Autosomal recessive 57
Methylmalonic Acidemia with Homocystinuria Type Cblf: Autosomal recessive 58

Prevelance:

Methylmalonic Acidemia with Homocystinuria Type Cblf: <1/1000000 (Worldwide) 58

Age Of Onset:

Methylmalonic Acidemia with Homocystinuria Type Cblf: Childhood 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
onset in infancy
responsive to vitamin b12 therapy
see also cblc


Classifications:

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


Summaries for Methylmalonic Aciduria and Homocystinuria, Cblf 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 (MAHCC; 277400), cblD (MAHCD; 277410), cblF, and cblJ (MAHCJ; 614857). (277380) (Updated 24-Oct-2022)

MalaCards based summary: Methylmalonic Aciduria and Homocystinuria, Cblf Type, also known as methylmalonic aciduria and homocystinuria type cblf, is related to methylmalonic aciduria and homocystinuria, cbld type and methylmalonic aciduria and homocystinuria, cblc type, and has symptoms including exanthema and lethargy. An important gene associated with Methylmalonic Aciduria and Homocystinuria, Cblf Type is LMBRD1 (LMBR1 Domain Containing 1), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include skin, bone marrow and heart, and related phenotypes are methylmalonic aciduria and megaloblastic anemia

UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). It is due to accumulation of free cobalamin in lysosomes, thus hindering its conversion to cofactors. Clinical features include developmental delay, stomatitis, glossitis, seizures and methylmalonic aciduria responsive to vitamin B12.

Disease Ontology: 11 A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has material basis in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13.

Orphanet: 58 cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

Related Diseases for Methylmalonic Aciduria and Homocystinuria, Cblf Type

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

(show all 31)
# Related Disease Score Top Affiliating Genes
1 methylmalonic aciduria and homocystinuria, cbld type 31.0 LMBRD1 ABCD4
2 methylmalonic aciduria and homocystinuria, cblc type 30.8 LMBRD1 ABCD4
3 vitamin b12 deficiency 29.3 LMBRD1 ABCD4
4 methylmalonic acidemia 29.2 LMBRD1 ABCD4
5 megaloblastic anemia 29.2 LMBRD1 ABCD4
6 methylmalonic acidemia with homocystinuria 11.2
7 methylmalonic aciduria and homocystinuria, cblj type 11.0
8 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 10.9
9 methylmalonic aciduria, cbla type 10.9
10 methylmalonic aciduria, cblb type 10.9
11 hyperhomocysteinemia 10.9
12 homocysteinemia 10.9
13 dowling-degos disease 1 10.0
14 dyskeratosis congenita 10.0
15 c syndrome 10.0
16 alacrima, achalasia, and mental retardation syndrome 10.0
17 exanthem 10.0
18 ventricular septal defect 10.0
19 heart septal defect 10.0
20 stomatitis 10.0
21 disorders of intracellular cobalamin metabolism 10.0
22 hypotonia 10.0
23 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 9.9
24 homocystinuria-megaloblastic anemia, cblg complementation type 9.9
25 hemolytic-uremic syndrome 9.9
26 homocystinuria caused by cystathionine beta-synthase deficiency 9.9
27 gallbladder papillomatosis 9.7 LMBRD1 ABCD4
28 gaucher disease, type iii 9.7 LMBRD1 ABCD4
29 vitamin metabolic disorder 9.7 LMBRD1 ABCD4
30 organic acidemia 9.6 LMBRD1 ABCD4
31 homocystinuria 9.4 TYR LMBRD1 ABCD4

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



Diseases related to Methylmalonic Aciduria and Homocystinuria, Cblf Type

Symptoms & Phenotypes for Methylmalonic Aciduria and Homocystinuria, Cblf Type

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

58 30 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 methylmalonic aciduria 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012120
2 megaloblastic anemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001889
3 hyperhomocystinemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002160
4 vitamin b12 deficiency 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100502
5 decreased adenosylcobalamin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003145
6 decreased methylcobalamin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003223
7 elevated circulating palmitoleylcarnitine concentration 30 Hallmark (90%) HP:0031544
8 intellectual disability 58 30 Frequent (33%) Frequent (79-30%)
HP:0001249
9 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
HP:0001508
10 abnormal facial shape 58 30 Frequent (33%) Frequent (79-30%)
HP:0001999
11 intrauterine growth retardation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001511
12 neurodevelopmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0012758
13 lethargy 58 30 Frequent (33%) Frequent (79-30%)
HP:0001254
14 feeding difficulties 58 30 Frequent (33%) Frequent (79-30%)
HP:0011968
15 recurrent infections 58 30 Frequent (33%) Frequent (79-30%)
HP:0002719
16 abnormal heart morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0001627
17 seizure 30 Frequent (33%) HP:0001250
18 hypotonia 30 Frequent (33%) HP:0001252
19 cleft palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000175
20 skin rash 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000988
21 neutropenia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001875
22 reduced number of intrahepatic bile ducts 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006571
23 unilateral renal agenesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000122
24 glossitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000206
25 intraventricular hemorrhage 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030746
26 stomatitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010280
27 seizures 58 Frequent (79-30%)
28 high palate 30 HP:0000218
29 muscular hypotonia 58 Frequent (79-30%)
30 global developmental delay 30 HP:0001263
31 microtia 30 HP:0008551
32 feeding difficulties in infancy 30 HP:0008872
33 growth delay 58 Frequent (79-30%)
34 low-set ears 30 HP:0000369
35 epicanthus 30 HP:0000286
36 thrombocytopenia 30 HP:0001873
37 thin upper lip vermilion 30 HP:0000219
38 pancytopenia 30 HP:0001876
39 generalized hypotonia 30 HP:0001290
40 incoordination 30 HP:0002311
41 cystathioninuria 30 HP:0003153
42 cystathioninemia 30 HP:0003286
43 hypomethioninemia 58 Excluded (0%)
44 methylmalonic acidemia 30 HP:0002912
45 homocystinuria 30 HP:0002156
46 elevated propionylcarnitine level 58 Very frequent (99-80%)
47 decreased methionine synthase activity 30 HP:0003524

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Growth Other:
failure to thrive

Hematology:
thrombocytopenia
neutropenia
pancytopenia
megaloblastic anemia

Head And Neck Mouth:
glossitis
stomatitis
thin upper lip
high-arched palate

Head And Neck Eyes:
epicanthal folds

Skin Nails Hair Skin:
reticulate pigmented skin abnormalities
skin rashes

Head And Neck Ears:
low-set ears
small ears

Neurologic Central Nervous System:
lethargy
hypotonia
developmental delay
impaired coordination

Laboratory Abnormalities:
methylmalonic aciduria
cystathioninuria
cystathioninemia
methylmalonic acidemia
homocystinuria
more
Abdomen Gastrointestinal:
poor feeding

Clinical features from OMIM®:

277380 (Updated 24-Oct-2022)

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


exanthema; lethargy

Drugs & Therapeutics for Methylmalonic Aciduria and Homocystinuria, Cblf Type

Search Clinical Trials, NIH Clinical Center for Methylmalonic Aciduria and Homocystinuria, Cblf Type

Genetic Tests for Methylmalonic Aciduria and Homocystinuria, Cblf Type

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

# Genetic test Affiliating Genes
1 Methylmalonic Aciduria and Homocystinuria Type Cblf 28 LMBRD1

Anatomical Context for Methylmalonic Aciduria and Homocystinuria, Cblf Type

Organs/tissues related to Methylmalonic Aciduria and Homocystinuria, Cblf Type:

MalaCards : Skin, Bone Marrow, Heart, Bone
ODiseA: Blood And Bone Marrow

Publications for Methylmalonic Aciduria and Homocystinuria, Cblf Type

Articles related to Methylmalonic Aciduria and Homocystinuria, Cblf Type:

(show top 50) (show all 58)
# Title Authors PMID Year
1
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. 62 57 5
19136951 2009
2
A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing. 62 5
26997947 2016
3
Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes. 62 5
24664876 2015
4
A patient with an inborn error of vitamin B12 metabolism (cblF) detected by newborn screening. 62 5
23776111 2013
5
Eighteen-year follow-up of a patient with cobalamin F disease (cblF): report and review. 62 57
21910240 2011
6
Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism. 62 5
21303734 2011
7
Lysosomal cobalamin accumulation in fibroblasts from a patient with an inborn error of cobalamin metabolism (cblF complementation group): visualization by electron microscope radioautography. 62 57
2070814 1991
8
Failure of lysosomal release of vitamin B12: a new complementation group causing methylmalonic aciduria (cblF). 62 57
3766542 1986
9
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
10
Defective lysosomal release of vitamin B12 (cb1F): a hereditary cobalamin metabolic disorder associated with sudden death. 57
2596518 1989
11
New disorder of vitamin B12 metabolism (cobalamin F) presenting as methylmalonic aciduria. 57
3725502 1986
12
Defect in vitamin B12 release from lysosomes: newly described inborn error of vitamin B12 metabolism. 57
4001945 1985
13
Cobalamin F deficiency in a girl with severe skin hyperpigmentation and a homozygous LMBRD1 variant. 62
34958133 2022
14
Inherited defects of cobalamin metabolism. 62
35337626 2022
15
Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis. 62
34655177 2021
16
The Effect of Cold Press Chia Seed Oil By-Products on the Rheological, Microstructural, Thermal, and Sensory Properties of Low-Fat Ice Cream. 62
34681350 2021
17
Waste soybean frying oil for the production, extraction, and characterization of cell-wall-associated lipases from Yarrowia lipolytica. 62
33389167 2021
18
[Remethylation disorders: about two cases]. 62
33237026 2020
19
Vitamin B12 deficiency secondary to cobalamin F deficiency simulating dyskeratosis congenita. 62
32875039 2020
20
Cobalamin C deficiency presenting with diffuse alveolar hemorrhage and pulmonary microangiopathy. 62
32293809 2020
21
Impact of Locational Choices and Consumer Behaviors on Personal Land Footprints: An Exploration Across the Urban-Rural Continuum in the United States. 62
32083481 2020
22
Single allele Lmbrd1 knockout results in cardiac hypertrophy. 62
28549591 2018
23
Physico-chemical properties influence the functions and efficacy of commercial bovine lactoferrins. 62
29516297 2018
24
Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1. 62
28572511 2017
25
[Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up]. 62
29039164 2017
26
Lactoferrin and the lactoferrin-sophorolipids-assembly can be internalized by dermal fibroblasts and regulate gene expression. 62
28169552 2017
27
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. 62
27905001 2017
28
Methylmalonic Acidemia Diagnosis by Laboratory Methods. 62
28070528 2016
29
Lmbrd1 expression is essential for the initiation of gastrulation. 62
27061115 2016
30
Lessons in biology from patients with inherited disorders of vitamin B12 and folate metabolism. 62
27163846 2016
31
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines. 62
25762406 2015
32
Compressive Bilateral Filtering. 62
26068315 2015
33
[Combined methylmalonic acidemia and homocystinuria; a case report]. 62
25795986 2015
34
Transcriptomic profiling of intestinal epithelial cells in response to human, bovine and commercial bovine lactoferrins. 62
24831230 2014
35
Defect of cobalamin intracellular metabolism presenting as diabetic ketoacidosis: a rare manifestation. 62
23546813 2013
36
Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing. 62
23141461 2012
37
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. 62
22922874 2012
38
Leukoencephalopathies associated with disorders of cobalamin and folate metabolism. 62
22422209 2012
39
Cobalamin F disease detected by newborn screening and follow-up on a 14-year-old patient. 62
22065268 2011
40
Bovine lactoferrin can be taken up by the human intestinal lactoferrin receptor and exert bioactivities. 62
21832946 2011
41
LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism. 62
20446115 2011
42
Inborn errors of cobalamin absorption and metabolism. 62
21312325 2011
43
Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease. 62
20174775 2010
44
A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient. 62
20127417 2010
45
Causes of and diagnostic approach to methylmalonic acidurias. 62
18563633 2008
46
Disorders of Intracellular Cobalamin Metabolism 62
20301503 2008
47
Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE). 62
17823972 2007
48
Comparison of the electrically evoked leg withdrawal reflex in cerebellar patients and healthy controls. 62
17051385 2007
49
Acquired and inherited disorders of cobalamin and folate in children. 62
16846473 2006
50
Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport. 62
16150626 2005

Variations for Methylmalonic Aciduria and Homocystinuria, Cblf Type

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

5 (show top 50) (show all 136)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LMBRD1 NM_018368.4(LMBRD1):c.404del (p.Thr135fs) DEL Pathogenic
518 rs1562112641 GRCh37: 6:70462152-70462152
GRCh38: 6:69752260-69752260
2 LMBRD1 NM_018368.4(LMBRD1):c.1339-1G>T SNV Pathogenic
1323238 GRCh37: 6:70407534-70407534
GRCh38: 6:69697642-69697642
3 LMBRD1 NM_018368.4(LMBRD1):c.399del (p.Lys133fs) DEL Pathogenic
1371786 GRCh37: 6:70462157-70462157
GRCh38: 6:69752265-69752265
4 LMBRD1 NM_018368.4(LMBRD1):c.1156C>T (p.Arg386Ter) SNV Pathogenic
847318 rs1380343985 GRCh37: 6:70410689-70410689
GRCh38: 6:69700797-69700797
5 LMBRD1 NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs) MICROSAT Pathogenic
1070033 GRCh37: 6:70411791-70411794
GRCh38: 6:69701899-69701902
6 LMBRD1 NM_018368.4(LMBRD1):c.1094_1095del (p.Leu365fs) DEL Pathogenic
1687319 GRCh37: 6:70410750-70410751
GRCh38: 6:69700858-69700859
7 LMBRD1 NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs) DEL Pathogenic
517 rs779151199 GRCh37: 6:70451727-70451728
GRCh38: 6:69741835-69741836
8 overlap with 3 genes NC_000006.11:g.(?_70386050)_(71012627_?)del DEL Pathogenic
1456629 GRCh37: 6:70386050-71012627
GRCh38:
9 LMBRD1 NC_000006.11:g.(?_70459213)_(70462268_?)del DEL Pathogenic
1459108 GRCh37: 6:70459213-70462268
GRCh38:
10 LMBRD1 NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) DEL Pathogenic
225048 rs749272546 GRCh37: 6:70411362-70411362
GRCh38: 6:69701470-69701470
11 LMBRD1 NM_018368.4(LMBRD1):c.1189-1G>A SNV Likely Pathogenic
1346115 GRCh37: 6:70409085-70409085
GRCh38: 6:69699193-69699193
12 LMBRD1 NM_018368.4(LMBRD1):c.1338+2T>C SNV Likely Pathogenic
1324667 GRCh37: 6:70408933-70408933
GRCh38: 6:69699041-69699041
13 LMBRD1 NM_018368.4(LMBRD1):c.562+1G>A SNV Likely Pathogenic
1471643 GRCh37: 6:70451680-70451680
GRCh38: 6:69741788-69741788
14 LMBRD1 NM_018368.4(LMBRD1):c.384T>C (p.Asp128=) SNV Conflicting Interpretations Of Pathogenicity
357777 rs143642515 GRCh37: 6:70462172-70462172
GRCh38: 6:69752280-69752280
15 LMBRD1 NM_018368.4(LMBRD1):c.417G>A (p.Thr139=) SNV Conflicting Interpretations Of Pathogenicity
908178 rs934259733 GRCh37: 6:70459289-70459289
GRCh38: 6:69749397-69749397
16 LMBRD1 NM_018368.4(LMBRD1):c.1382C>G (p.Ser461Cys) SNV Uncertain Significance
1479834 GRCh37: 6:70407490-70407490
GRCh38: 6:69697598-69697598
17 LMBRD1 NM_018368.4(LMBRD1):c.1144A>G (p.Met382Val) SNV Uncertain Significance
1495319 GRCh37: 6:70410701-70410701
GRCh38: 6:69700809-69700809
18 LMBRD1 NM_018368.4(LMBRD1):c.277A>G (p.Ile93Val) SNV Uncertain Significance
1486709 GRCh37: 6:70490416-70490416
GRCh38: 6:69780524-69780524
19 LMBRD1 NM_018368.4(LMBRD1):c.1613A>G (p.Tyr538Cys) SNV Uncertain Significance
1487617 GRCh37: 6:70386060-70386060
GRCh38: 6:69676168-69676168
20 LMBRD1 NM_018368.4(LMBRD1):c.947C>T (p.Ala316Val) SNV Uncertain Significance
1517962 GRCh37: 6:70411814-70411814
GRCh38: 6:69701922-69701922
21 LMBRD1 NM_018368.4(LMBRD1):c.545A>G (p.Glu182Gly) SNV Uncertain Significance
1512791 GRCh37: 6:70451698-70451698
GRCh38: 6:69741806-69741806
22 LMBRD1 NM_018368.4(LMBRD1):c.430A>G (p.Thr144Ala) SNV Uncertain Significance
444690 rs12214456 GRCh37: 6:70459276-70459276
GRCh38: 6:69749384-69749384
23 LMBRD1 NM_018368.4(LMBRD1):c.1217G>A (p.Arg406Lys) SNV Uncertain Significance
958218 rs1364347331 GRCh37: 6:70409056-70409056
GRCh38: 6:69699164-69699164
24 LMBRD1 NM_018368.4(LMBRD1):c.7A>G (p.Thr3Ala) SNV Uncertain Significance
1009791 rs1297619412 GRCh37: 6:70506767-70506767
GRCh38: 6:69796875-69796875
25 LMBRD1 NM_018368.4(LMBRD1):c.187C>G (p.Leu63Val) SNV Uncertain Significance
1055777 GRCh37: 6:70500247-70500247
GRCh38: 6:69790355-69790355
26 LMBRD1 NM_018368.4(LMBRD1):c.94T>C (p.Tyr32His) SNV Uncertain Significance
439861 rs373241693 GRCh37: 6:70500340-70500340
GRCh38: 6:69790448-69790448
27 LMBRD1 NM_018368.4(LMBRD1):c.1577A>G (p.Glu526Gly) SNV Uncertain Significance
1361288 GRCh37: 6:70386096-70386096
GRCh38: 6:69676204-69676204
28 LMBRD1 NM_018368.4(LMBRD1):c.649T>C (p.Ser217Pro) SNV Uncertain Significance
1361168 GRCh37: 6:70428961-70428961
GRCh38: 6:69719069-69719069
29 LMBRD1 NM_018368.4(LMBRD1):c.704T>C (p.Leu235Ser) SNV Uncertain Significance
1371121 GRCh37: 6:70428906-70428906
GRCh38: 6:69719014-69719014
30 LMBRD1 NM_018368.4(LMBRD1):c.284A>T (p.Asp95Val) SNV Uncertain Significance
1392772 GRCh37: 6:70490409-70490409
GRCh38: 6:69780517-69780517
31 LMBRD1 NM_018368.4(LMBRD1):c.151A>T (p.Ile51Phe) SNV Uncertain Significance
1393757 GRCh37: 6:70500283-70500283
GRCh38: 6:69790391-69790391
32 LMBRD1 NM_018368.4(LMBRD1):c.1343A>C (p.Asn448Thr) SNV Uncertain Significance
1389120 GRCh37: 6:70407529-70407529
GRCh38: 6:69697637-69697637
33 LMBRD1 NM_018368.4(LMBRD1):c.727G>C (p.Glu243Gln) SNV Uncertain Significance
1365025 GRCh37: 6:70428883-70428883
GRCh38: 6:69718991-69718991
34 LMBRD1 NM_018368.4(LMBRD1):c.1346T>C (p.Ile449Thr) SNV Uncertain Significance
1403521 GRCh37: 6:70407526-70407526
GRCh38: 6:69697634-69697634
35 LMBRD1 NM_018368.4(LMBRD1):c.1168A>G (p.Ile390Val) SNV Uncertain Significance
1380739 GRCh37: 6:70410677-70410677
GRCh38: 6:69700785-69700785
36 LMBRD1 NM_018368.4(LMBRD1):c.1136T>A (p.Phe379Tyr) SNV Uncertain Significance
1437446 GRCh37: 6:70410709-70410709
GRCh38: 6:69700817-69700817
37 LMBRD1 NM_018368.4(LMBRD1):c.1331T>C (p.Leu444Ser) SNV Uncertain Significance
1429331 GRCh37: 6:70408942-70408942
GRCh38: 6:69699050-69699050
38 LMBRD1 NM_018368.4(LMBRD1):c.115C>T (p.Arg39Trp) SNV Uncertain Significance
357779 rs748879055 GRCh37: 6:70500319-70500319
GRCh38: 6:69790427-69790427
39 LMBRD1 NM_018368.4(LMBRD1):c.368A>G (p.Tyr123Cys) SNV Uncertain Significance
842893 rs1765174962 GRCh37: 6:70462188-70462188
GRCh38: 6:69752296-69752296
40 LMBRD1 NM_018368.4(LMBRD1):c.830G>A (p.Arg277Gln) SNV Uncertain Significance
858895 rs747354714 GRCh37: 6:70423622-70423622
GRCh38: 6:69713730-69713730
41 LMBRD1 NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr) SNV Uncertain Significance
863432 rs554554993 GRCh37: 6:70451681-70451681
GRCh38: 6:69741789-69741789
42 LMBRD1 NM_018368.4(LMBRD1):c.119G>A (p.Arg40Gln) SNV Uncertain Significance
1434356 GRCh37: 6:70500315-70500315
GRCh38: 6:69790423-69790423
43 LMBRD1 NM_018368.4(LMBRD1):c.989A>C (p.Lys330Thr) SNV Uncertain Significance
1438245 GRCh37: 6:70411429-70411429
GRCh38: 6:69701537-69701537
44 LMBRD1 NM_018368.4(LMBRD1):c.796A>G (p.Lys266Glu) SNV Uncertain Significance
533862 rs771226867 GRCh37: 6:70423656-70423656
GRCh38: 6:69713764-69713764
45 LMBRD1 NM_018368.4(LMBRD1):c.1214C>G (p.Thr405Ser) SNV Uncertain Significance
580738 rs561265847 GRCh37: 6:70409059-70409059
GRCh38: 6:69699167-69699167
46 LMBRD1 NM_018368.4(LMBRD1):c.400T>C (p.Cys134Arg) SNV Uncertain Significance
657950 rs1582124917 GRCh37: 6:70462156-70462156
GRCh38: 6:69752264-69752264
47 LMBRD1 NM_018368.4(LMBRD1):c.905G>A (p.Arg302His) SNV Uncertain Significance
663786 rs142962811 GRCh37: 6:70423547-70423547
GRCh38: 6:69713655-69713655
48 LMBRD1 NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu) SNV Uncertain Significance
684470 rs980145400 GRCh37: 6:70386163-70386163
GRCh38: 6:69676271-69676271
49 LMBRD1 NM_018368.4(LMBRD1):c.1067T>C (p.Leu356Ser) SNV Uncertain Significance
1441060 GRCh37: 6:70411351-70411351
GRCh38: 6:69701459-69701459
50 LMBRD1 NM_018368.4(LMBRD1):c.166A>G (p.Ile56Val) SNV Uncertain Significance
1446217 GRCh37: 6:70500268-70500268
GRCh38: 6:69790376-69790376

Expression for Methylmalonic Aciduria and Homocystinuria, Cblf Type

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

Pathways for Methylmalonic Aciduria and Homocystinuria, Cblf Type

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.95 TYR LMBRD1 ABCD4
2
Show member pathways
11.93 LMBRD1 ABCD4
3
Show member pathways
11.8 LMBRD1 ABCD4
4
Show member pathways
11.39 LMBRD1 ABCD4
5
Show member pathways
10.64 LMBRD1 ABCD4

GO Terms for Methylmalonic Aciduria and Homocystinuria, Cblf Type

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

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 8.92 TYR LMBRD1 ABCD4

Sources for Methylmalonic Aciduria and Homocystinuria, Cblf Type

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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