ORPHA:137908

Hypotonia with lactic acidemia and hyperammonemia

Synonyms: COXPD5 · Combined oxidative phosphorylation defect type 5

This syndrome is characterized by severe hypotonia, lactic acidemia and congenital hyperammonaemia.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Hypotonia with lactic acidemia and hyperammonemia	COXPD5 · Combined oxidative phosphorylation defect type 5
fr	Hypotonie avec acidose lactique et hyperammonémie	COXPD5 · Déficit combiné de la phosphorylation oxydative type 5
de	Hypotonie mit Laktatazidose und Hyperammonämie	COXPD5 · Kombinierter Defekt der oxidativen Phosphorylierung Typ 5
es	Hipotonia con acidemia láctica e hiperamonemia	COXPD5 · Deficiencia combinada de la fosforilación oxidativa tipo 5
it	Ipotonia con acidemia lattica e iperammoniemia	Difetto combinato della fosforilazione ossidativa, tipo 5 · COXPD5
nl	Hypotonie met melkzuuracidemie en hyperammoniëmie	COXPD5 · Gecombineerde oxidatieve fosforylatiedeficiëntie type 5 · Hypotonie met lactaatacidemie en hyperammoniëmie
pt	Hipotonia com acidemia láctica e hiperamoniemia
pl	Hipotonia z kwasicą mleczanową i hiperamonemią	COXPD5 · Złożony defekt fosforylacji oksydatywnej typu 5
cs	Hypotonie s laktátovou acidémií a hyperamonémií	COXPD5 · Kombinovaný defekt oxidativní fosforylace, typ 5
uk	Гіпотонія з молочнокислим ацидозом та гіперамоніємією	Комбінований дефект окисного фосфорилювання типу 5 · COXPD5
zh	肌张力减退伴乳酸血症和高氨血症	联合氧化磷酸化缺陷5型
tr	Laktik asidemi ve hiperamonyemi ile seyreden hipotoni	COXPD5 · Kombine oksidatif fosforilasyon defekti tip 5

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	611719	E		validated
ICD-10	E88.8	NTBT	attributed	validated
ICD-11	5C53.23	NTBT	index	validated
MONDO	0012718	E		validated
MeSH	C567126	E		validated
UMLS	C2673642	E		validated

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

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
MRPS22	Disease-causing germline mutation(s) in	Assessed	HGNC:14508	ENSG00000175110	605810	3q23	mitochondrial ribosomal protein S22	17873122[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		4 cases	Worldwide	Case(s)	Validated	17873122[PMID]_21189481[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_17873122[PMID]_21189481[PMID]

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

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