Glycogen storage disease IXb
- Synonyms
- GLYCOGENOSIS OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE; GSD IXb; PHKB-Related Phosphorylase Kinase Deficiency; PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Mrudu Herbert
- Jennifer L Goldstein
- Catherine Rehder
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (51 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of metabolism/homeostasis
- Hyperuricemia
Hyperuricemia
- MedGen UID: 149260
- Concept ID: C0740394
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypoglycemia
Hypoglycemia
- MedGen UID: 6979
- Concept ID: C0020615
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Increased muscle glycogen content
Increased muscle glycogen content
- MedGen UID: 409660
- Concept ID: C1968729
- Finding: Finding
Abnormality of metabolism/homeostasis
- Reduced hepatic phosphorylase kinase activity
Reduced hepatic phosphorylase kinase activity
- MedGen UID: 1054423
- Concept ID: CN377142
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hyperuricemia
- Abnormality of the digestive system
- Diarrhea
Diarrhea
- MedGen UID: 8360
- Concept ID: C0011991
- Finding: Sign or Symptom
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Increased hepatic glycogen content
Increased hepatic glycogen content
- MedGen UID: 344698
- Concept ID: C1856285
- Finding: Finding
Abnormality of the digestive system
- Diarrhea
- Abnormality of the immune system
- Splenomegaly
Splenomegaly
- MedGen UID: 52469
- Concept ID: C0038002
- Finding: Finding
Abnormality of the immune system
- Splenomegaly
- Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
- Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Growth delay
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