ORPHA:369962

Methylmalonic acidemia with homocystinuria, type cblX

Synonyms: Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX · Methylmalonic aciduria with homocystinuria, type cblX

Type: Clinical subtype
Group: Subtype of disorder
Inheritance: X-linked recessive
Age of onset: Infancy, Neonatal
Status: active

This disease is described under Methylmalonic acidemia with homocystinuria

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Methylmalonic acidemia with homocystinuria, type cblX	Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX · Methylmalonic aciduria with homocystinuria, type cblX
fr	Acidémie méthylmalonique avec homocystinurie type cblX	Acidurie méthylmalonique avec homocystinurie type cblX · Déficit combiné de synthèse de l'adénosylcobalamine et de la méthylcobalamine type cblX
de	Methylmalonazidämie mit Homocystinurie Typ cblX	Kombinierter Defekt der Adenosylcobalamin und Methylcobalamin-Synthese Typ cblX · Methylmalonazidurie mit Homocystinurie Typ cblX
es	Acidemia metilmalónica con homocistinuria tipo cblX	Aciduria metilmalónica con homocistinuria tipo cblX · Defecto combinado en la síntesis de adenosilcobalamina y metilcobalamina tipo cblX
it	Acidemia metilmalonica con omocistinuria, tipo cblX	Aciduria metilmalonica con omocistinuria, tipo cblX · Difetto combinato della sintesi dell'adenosilcobalamina e metilcobalamina, tipo cblX
nl	Methylmalonacidurie met homocystinurie, type cblX	Gecombineerd defect in adenosylcobalamine- en methylcobalaminesynthese type cblX · Methylmalonacidemie met homocystinurie type cblX
pt	Acidemia metilmalónica com homocistinúria, tipo cbIX
pl	Kwasica metylomalonowa z homocystynurią, typu cblX	Acyduria metylomalonowa z homocystynurią, typu cblX · Złożony defekt syntezy adenozylokobalaminy i metylokobalaminy, typu cblX
cs	Methylmalonová acidemie s homocystinurií, typ cbIX	Kombinovaná porucha syntézy adenosylkobalaminu a methylkobalaminu, typ cbIX · Methylmalonová acidurie s homocystinurií, typ cbIX
uk	Метилмалонова ацидемія з гомоцистинурією, тип cblX	Комбінований дефект синтезу аденозилкобаламіну та метилкобаламіну, тип cblX · Метилмалонова ацидурія з гомоцистинурією, тип cblX
zh	cblX型甲基丙二酸血症伴高胱氨酸尿症	腺苷钴胺素和甲基钴胺素合成结合缺陷cblX型
tr	Homosistinüri ile seyreden metilmalonik asidemi, tip cblX	Homosistinüri ile seyreden metilmalonik asidüri, tip cblX · Adenosilkobalamin ve metilkobalamin sentezinde kombine defekt, tip cblX

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	309541	E		validated
ICD-10	E71.1	NTBT	attributed	validated
ICD-11	5C50.E0	NTBT	attributed	validated
MONDO	0010657	E		validated
UMLS	C0796208	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:68367Rare inborn error of metabolism

Parents in the classifications (1):

ORPHA:26Methylmalonic acidemia with homocystinuria
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare hematological diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
HCFC1	Disease-causing germline mutation(s) in	Assessed	HGNC:4839	ENSG00000172534	300019	Xq28	host cell factor C1	24011988[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		18 cases	Worldwide	Case(s)	Validated	24011988[PMID]_22922874[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/369962
This record as JSON: /data/d/369962.json