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Methylmalonic aciduria and homocystinuria
Methylmalonic aciduria and homocystinuria
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Subtype of:
Methylmalonic acidemia
Include the contents of this disease's 4 subtypes
in the table below
Show the subtypes
Methylmalonic aciduria and homocystinuria type cblF
Methylmalonic aciduria and homocystinuria, cblc type
Methylmalonic aciduria and homocystinuria, cbld type
Methylmalonic aciduria and homocystinuria, cblx type
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
methylmalonic aciduria and homocystinuria
MONDO_0010183
MONDO:0016826
LMBRD1
Unknown
19136951
20127417
20446115
21303734
21910240
22065268
26997947
27604308
34958133
35361390
Open Targets
Vitamin digestion and absorption
Cobalamin transport and metabolism
Cobalamin (Cbl, vitamin B12) transport and metabolism
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF
+1 more
THAP11
Unknown
—
ClinGen
Cobalamin transport and metabolism
ZNF143
Unknown
—
ClinGen
Cobalamin transport and metabolism
RNA polymerase II transcribes snRNA genes
RNA Polymerase III Transcription Initiation From Type 3 Promoter
All
3
Causal
0
Unknown
3
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
2
Open Targets
1
Related Diseases
Diseases that share the most curated genes with Methylmalonic aciduria and homocystinuria.
5
View disease cluster →
Intracellular cobalamin metabolism disorder
3 shared genes
ZNF143, LMBRD1, THAP11
Related via 3 shared genes including ZNF143, LMBRD1, THAP11.
Methylmalonic aciduria and homocystinuria type cblF
1 shared gene
LMBRD1
Related via 1 shared gene including LMBRD1.
Donnai-barrow syndrome
1 shared gene
LMBRD1
Related via 1 shared gene including LMBRD1.
Methylmalonic acidemia
3 shared genes
ZNF143, LMBRD1, THAP11
Related via 3 shared genes including ZNF143, LMBRD1, THAP11.
Cobalamin c disease
1 shared gene
LMBRD1
Related via 1 shared gene including LMBRD1.
1
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