MCID: XYL001
MIFTS: 14
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Xylt1-Cdg
Categories:
Fetal diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Xylt1-Cdg:
Name: Xylt1-Cdg
58
Characteristics:Orphanet epidemiological data:58
xylt1-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Classifications:
MalaCards categories:
Global: Metabolic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases
ICD10:
33
Orphanet: 58
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MalaCards based summary :
Xylt1-Cdg An important gene associated with Xylt1-Cdg is XYLT1 (Xylosyltransferase 1). Affiliated tissues include bone and skin, and related phenotypes are hepatomegaly and pes planus
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Human phenotypes related to Xylt1-Cdg:58 31 (show all 29)
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MalaCards organs/tissues related to Xylt1-Cdg:40
Bone,
Skin
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