Hematology · Hematology / Metabolic hematology
Cobalamin C syndrome
also: Methylmalonic aciduria with homocystinuria cblC
Combined methylmalonic aciduria and homocystinuria with megaloblastic anemia and thrombotic microangiopathy.
- Specialty
- Hematology
- Subspecialty
- Hematology / Metabolic hematology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infancy
- Gene(s) involved
- MMACHC
- Alternative names & eponyms
- Methylmalonic aciduria with homocystinuria cblC
Etiology & mechanism
Intracellular cobalamin processing defect.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Cobalamin C syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Dandy–Walker malformation
developmental delay, hydrocephalus
2 shared
Folate malabsorption syndrome
developmental delay, megaloblastic anemia
2 shared
Imerslund–Gräsbeck syndrome
failure to thrive, megaloblastic anemia
2 shared
Scimitar syndrome
failure to thrive, pulmonary hypertension
1 shared
Aicardi syndrome
developmental delay
1 shared
Bannayan–Riley–Ruvalcaba syndrome
developmental delay
1 shared
Bare lymphocyte syndrome
failure to thrive
1 shared
Bartter syndrome
failure to thrive
1 shared
Brain–lung–thyroid syndrome
developmental delay
1 shared
Cardio-facio-cutaneous syndrome
developmental delay
Shares genes with
None.
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