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methylcobalamin deficiency type cblG

Go to external page http://purl.obolibrary.org/obo/MONDO_0009609

Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine. [ https://rarediseases.info.nih.gov/diseases/3577/methylcobalamin-deficiency-cbl-g-type ]

Synonyms: functional methionine synthase deficiency type cblG methylcobalamin deficiency type cblG

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:250940 (Orphanet:2170/e)
  • EFO:0005597 (MONDO:equivalentTo)
  • GARD:3577 (Orphanet:2170)
  • DOID:0050733 (MONDO:equivalentTo)
  • Orphanet:2170 (OMIM:250940)
  • SCTID:721187005 (MONDO:equivalentTo)
  • DOID:0112256 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_clinical_subtype, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://identifiers.org/snomedct/721187005

http://purl.obolibrary.org/obo/DOID_0050733

http://www.orpha.net/ORDO/Orphanet_2170

http://purl.obolibrary.org/obo/DOID_0112256

https://omim.org/entry/250940

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019737

http://purl.obolibrary.org/obo/MONDO_0005240

has related synonym

homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblG complementation type

methionine synthase deficiency

cblG

methylmalonic aciduria and homocystinuria type cblG

homocystinuria-megaloblastic anemia, cblG complementation type

HMAG

methylcobalamin deficiency, cblG type

homocystinuria-megaloblastic Anaemia due to defect in cobalamin metabolism, cblG complementation type

methylcobalamin deficiency Cbl G type

homocystinuria due to defect in methylation Cbl g

id

MONDO:0009609

seeAlso

https://rarediseases.info.nih.gov/diseases/3577/methylcobalamin-deficiency-cbl-g-type

https://search.clinicalgenome.org/kb/conditions/MONDO:0009609

Term relations