ORPHA:352312

Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement

Type: Category
Group: Group of disorders
Status: active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
fr	Trouble de la synthèse des phospholipides, sphingolipides et acides gras avec atteinte prédominante des muscles squelettiques
de	Störung der Phospholipid-, Sphingolipid- und Fettsäure-Biosynthese mit vorwiegender Beteiligung der Skelettmuskeln
es	Trastorno de la biosíntesis de fosfolípidos, esfingolípidos y ácidos grasos con afectación predominante del músculo esquelético
it	Difetto della biosintesi dei fosfolipidi, degli sfingolipidi e degli acidi grassi con coinvolgimento muscolare prevalente
nl	Stoornis van fosfolipiden-, sfingolipiden- en vetzuurbiosynthese met overheersende betrokkenheid van de skeletspieren
pt	Doença dos fosfolipídios, esfingolipídios e biossíntese de ácidos gordos com envolvimento predominante do músculo esquelético
pl	Zaburzenie biosyntezy fosfolipidów, sfingolipidów i kwasów tłuszczowych dotyczące głównie mięśni szkieletowych
cs	Porucha biosyntézy fosfolipidů, sfingolipidů a mastných kyselin s predominantním poškozením kosterního svalstva
uk	Порушення біосинтезу фосфоліпідів, сфінголіпідів та жирних кислот з переважним залученням скелетних мязів
zh	磷脂、鞘脂和脂肪酸生物合成障碍以骨骼肌受累为主
tr	İskelet kası ağırlıklı olarak tutulumu ile seyreden fosfolipidler, sfingolipidler ve yağ asitleri biyosentezindeki bozukluk

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
MONDO	18120	E		validated
UMLS	C5680991	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:352301Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
rare inborn errors of metabolism; rare genetic diseases

Children (5):

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/352312
This record as JSON: /data/d/352312.json