Variegate porphyria
- Synonyms
- PPOX deficiency; Porphyria, South African type; Protoporphyrinogen oxidase deficiency
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- References
- Chapter Notes
- Authors:
- Ashwani K Singal
- Karl E Anderson
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (69 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of the cardiovascular system
- Tachycardia
Tachycardia
- MedGen UID: 21453
- Concept ID: C0039231
- Finding: Finding
Abnormality of the cardiovascular system
- Tachycardia
- Abnormality of the digestive system
- Constipation
Constipation
- MedGen UID: 1101
- Concept ID: C0009806
- Finding: Sign or Symptom
Abnormality of the digestive system
- Increased fecal protoporphyrin concentration
Increased fecal protoporphyrin concentration
- MedGen UID: 1814410
- Concept ID: C5676846
- Finding: Finding
Abnormality of the digestive system
- Vomiting
Vomiting
- MedGen UID: 12124
- Concept ID: C0042963
- Finding: Sign or Symptom
Abnormality of the digestive system
- Constipation
- Abnormality of the genitourinary system
- Elevated urinary delta-aminolevulinic acid
Elevated urinary delta-aminolevulinic acid
- MedGen UID: 341286
- Concept ID: C1848702
- Finding: Finding
Abnormality of the genitourinary system
- Increased urinary porphobilinogen
Increased urinary porphobilinogen
- MedGen UID: 868601
- Concept ID: C4023000
- Finding: Finding
Abnormality of the genitourinary system
- Porphyrinuria
Porphyrinuria
- MedGen UID: 57493
- Concept ID: C0151861
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Elevated urinary delta-aminolevulinic acid
- Abnormality of the integument
- Cutaneous photosensitivity
Cutaneous photosensitivity
- MedGen UID: 87601
- Concept ID: C0349506
- Finding: Pathologic Function
Abnormality of the integument
- Cutaneous photosensitivity
- Abnormality of the nervous system
- Paralysis
Paralysis
- MedGen UID: 105510
- Concept ID: C0522224
- Finding: Finding
Abnormality of the nervous system
- Peripheral neuropathy
Peripheral neuropathy
- MedGen UID: 18386
- Concept ID: C0031117
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Psychotic disorder
Psychotic disorder
- MedGen UID: 19568
- Concept ID: C0033975
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Paralysis
- Constitutional symptom
- Abdominal pain
Abdominal pain
- MedGen UID: 7803
- Concept ID: C0000737
- Finding: Sign or Symptom
Constitutional symptom
- Abdominal pain
- Orphanet, 2007Orphanet emergency guideline: Cutaneous porphyrias, 2007
- Orphanet, 2007Orphanet, Acute hepatic porphyria neuro-visceral crisis, 2007
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