Methylmalonic acidemia with homocystinuria
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Methylmalonic aciduria with homocystinuria Combined defect in adenosylcobalamin and methylcobalamin synthesis |
| Number of Symptoms | 43 |
| OrphanetNr: | 26 |
| OMIM Id: |
277380
277400 277410 614857 |
| ICD-10: |
E72.1 |
| UMLs: |
C1848561 |
| MeSH: |
C537359 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | > 500 cases [Orphanet] |
| Inheritance: |
Autosomal recessive X-linked recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Classic organic aciduria
-Rare genetic disease Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder -Rare genetic disease -Rare hematologic disease Disorder of cobalamin metabolism and transport -Rare genetic disease |
Symptom Information:
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(HPO:0003153) | Cystathioninuria | 5 / 7739 | ||||
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(HPO:0002156) | Homocystinuria | 12 / 7739 | ||||
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(HPO:0012120) | Methylmalonic aciduria | 20 / 7739 | ||||
|
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000286) | Epicanthus | 371 / 7739 | ||||
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(HPO:0000218) | High palate | 356 / 7739 | ||||
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(HPO:0000206) | Glossitis | 9 / 7739 | ||||
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(HPO:0011830) | Abnormality of oral mucosa | Very frequent [Orphanet] | 47 / 7739 | |||
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(HPO:0010280) | Stomatitis | 8 / 7739 | ||||
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(HPO:0000219) | Thin upper lip vermilion | 112 / 7739 | ||||
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(HPO:0000488) | Retinopathy | Very frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0008551) | Microtia | 98 / 7739 | ||||
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(HPO:0004372) | Reduced consciousness/confusion | Very frequent [Orphanet] | 73 / 7739 | |||
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(HPO:0100022) | Abnormality of movement | Frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0001254) | Lethargy | 104 / 7739 | ||||
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(HPO:0001288) | Gait disturbance | Frequent [Orphanet] | 318 / 7739 | |||
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(HPO:0002015) | Dysphagia | Very frequent [Orphanet] | 301 / 7739 | |||
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(HPO:0002311) | Incoordination | 84 / 7739 | ||||
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(HPO:0000708) | Behavioral abnormality | Frequent [Orphanet] | 212 / 7739 | |||
|
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0008872) | Feeding difficulties in infancy | 153 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
|
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(HPO:0000988) | Skin rash | Occasional [Orphanet] | 98 / 7739 | |||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Frequent [Orphanet] | 355 / 7739 | |||
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(HPO:0001873) | Thrombocytopenia | 224 / 7739 | ||||
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(HPO:0001876) | Pancytopenia | 89 / 7739 | ||||
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(HPO:0001875) | Neutropenia | 83 / 7739 | ||||
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(HPO:0001889) | Megaloblastic anemia | Very frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0002160) | Hyperhomocystinemia | 10 / 7739 | ||||
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(HPO:0003524) | Decreased methionine synthase activity | 9 / 7739 | ||||
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(HPO:0002912) | Methylmalonic acidemia | 14 / 7739 | ||||
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(HPO:0003223) | Decreased methylcobalamin | 11 / 7739 | ||||
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(HPO:0003286) | Cystathioninemia | 3 / 7739 | ||||
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(HPO:0003145) | Decreased adenosylcobalamin | 10 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | Very frequent [Orphanet] | 859 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0000238) | Hydrocephalus | Frequent [Orphanet] | 278 / 7739 | |||
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(HPO:0003593) | Infantile onset | 249 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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