eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| methylmalonic acidemia with homocystinuria | ||||
| Disease ID | 1526 |
|---|---|
| Disease | methylmalonic acidemia with homocystinuria |
| Synonym | cbl c cblc - cobalamin locus c cblc methylmalonic acidaemia and homocystinuria cblc methylmalonic acidemia and homocystinuria cobalamin c disease cobalamin c disease (disorder) cobalamin locus c variant cobalamin-c methylmalonic acidemia and homocystinuria methylmalonic acidemia and homocystinemia methylmalonic acidemia and homocystinuria cblc type methylmalonic acidemia and homocystinuria, cblc type methylmalonic aciduria and homocystinuria, cblc type methylmalonic aciduria and homocystinuria, vitamin b12-responsive vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase |
| Orphanet | |
| OMIM | |
| UMLS | C1848561 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1526 |
|---|---|
| Disease | methylmalonic acidemia with homocystinuria |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:18) HP:0000988 | Skin rash HP:0001263 | Global developmental delay HP:0001250 | Seizures HP:0000708 | Behavioral abnormality HP:0001288 | Gait disturbance HP:0000646 | Amblyopia HP:0000488 | Retinopathy HP:0001254 | Lethargy HP:0012378 | Fatigue HP:0000252 | Microcephaly HP:0002564 | Malformation of the heart and great vessels HP:0100022 | Abnormality of movement HP:0001508 | Failure to thrive HP:0001252 | Muscular hypotonia HP:0000238 | Hydrocephalus HP:0001980 | Megaloblastic bone marrow HP:0011968 | Feeding difficulties HP:0001249 | Intellectual disability |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1526 |
|---|---|
| Disease | methylmalonic acidemia with homocystinuria |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:11) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121918240 | NA | 25974 | MMACHC | umls:C1848561 | CLINVAR | NA | 0.480271442 | NA | MMACHC | 1 | 45508282 | T | C |
| rs121918241 | NA | 25974 | MMACHC | umls:C1848561 | CLINVAR | NA | 0.480271442 | NA | MMACHC | 1 | 45508329 | C | A,T |
| rs121918242 | NA | 25974 | MMACHC | umls:C1848561 | CLINVAR | NA | 0.480271442 | NA | MMACHC | 1 | 45508266 | C | T |
| rs121918243 | NA | 25974 | MMACHC | umls:C1848561 | CLINVAR | NA | 0.480271442 | NA | MMACHC | 1 | 45508848 | G | A |
| rs140522266 | 16311595 | 25974 | MMACHC | umls:C1848561 | UNIPROT | Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. | 0.480271442 | 2006 | MMACHC | 1 | 45508806 | G | A,C |
| rs398124292 | NA | 25974 | MMACHC | umls:C1848561 | CLINVAR | NA | 0.480271442 | NA | MMACHC | 1 | 45507545 | - | A |
| rs546099787 | 16311595 | 25974 | MMACHC | umls:C1848561 | UNIPROT | Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. | 0.480271442 | 2006 | MMACHC;CCDC163P | 1 | 45500412 | A | G |
| rs556977618 | NA | 25974 | MMACHC | umls:C1848561 | CLINVAR | NA | 0.480271442 | NA | MMACHC | 1 | 45507550 | G | A,T |
| rs587776889 | NA | 25974 | MMACHC | umls:C1848561 | CLINVAR | NA | 0.480271442 | NA | MMACHC | 1 | 45508975 | G | A |
| rs606231425 | NA | 25974 | MMACHC | umls:C1848561 | CLINVAR | NA | 0.480271442 | NA | MMACHC | 1 | 45508830 | G | A |
| rs796051996 | NA | 25974 | MMACHC | umls:C1848561 | CLINVAR | NA | 0.480271442 | NA | MMACHC | 1 | 45508355 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100022 | Abnormality of movement | MP:0005223 | abnormal dorsal-ventral polarity of the somites | anomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
Mapped by homologous gene(Total Items:16) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000488 | Retinopathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001263 | Global developmental delay | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0100022 | Abnormality of movement | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0011968 | Feeding difficulties | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000646 | Amblyopia | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0001254 | Lethargy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000708 | Behavioral abnormality | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001288 | Gait disturbance | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000252 | Microcephaly | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0000988 | Skin rash | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 1526 |
|---|---|
| Disease | methylmalonic acidemia with homocystinuria |
| Case | (Waiting for update.) |