Glycogen phosphorylase kinase deficiency

MedGen UID:: 468559
•Concept ID:: C0268147
•: Disease or Syndrome

Synonyms:	Glycogen Storage Disease Type IX; Phosphorylase Kinase Deficiency
SNOMED CT:	Glycogen phosphorylase kinase deficiency (235908005); PHK - Hepatic phosphorylase kinase deficiency (235908005); Hepatic phosphorylase kinase deficiency (235908005); Phosphorylase kinase deficiency of liver (235908005); Glycogen storage disease type IX (235908005); Glycogenosis viiia (235908005)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record Autosomal recessive inheritance (Orphanet) X-linked recessive inheritance (Orphanet)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	PHKG2, PHKB, PHKA2, PHKA1

Orphanet:	ORPHA370