ORPHA:79473
Variegate porphyria
Synonyms: Porphyria variegata · Protoporphyrinogen oxidase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A rare acute hepatic porphyria characterized by neurovisceral attacks and/or skin lesions.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Variegate porphyria | Porphyria variegata · Protoporphyrinogen oxidase deficiency |
| fr | Porphyrie variegate | Déficit en protoporphyrinogène oxydase · Porphyrie variegata |
| de | Porphyria variegata | Protoporphyrinogen-Oxidase-Mangel |
| es | Porfiria variegata | Deficiencia de protoporfirinógeno oxidasa |
| it | Porfiria variegata | Deficit di protoporfirinogeno ossidasi · Porphyria variegata |
| nl | Porphyria variegata | Deficiëntie van protoporfyrinogeenoxidase · Variërende porfyrie |
| pt | Porfiria variegada | Deficiência da protoporfirinogéneo oxidase |
| pl | Porfiria mieszana | Niedobór oksydazy protoporfirynogenu · Porfiria różnobarwna |
| cs | Porphyria variegata | Deficit protoporfyrinogenoxidázy · Variegátní porfyrie |
| uk | Варіабельна порфірія | Порфірія строката (Porphyria variegata) · Дефіцит протопорфіриногеноксидази |
| zh | 混合型卟啉病 | 原卟啉原氧化酶缺乏症 |
| tr | Porfiria variegata | Variegate porfiri · Protoporfirinojen oksidaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 176200 | BTNT | validated | |
| OMIM | 620483 | BTNT | validated | |
| ICD-10 | E80.2 | NTBT | attributed | validated |
| ICD-11 | 5C58.13 | E | specific | validated |
| MONDO | 0008297 | E | validated | |
| MeSH | D046350 | E | validated | |
| UMLS | C0162532 | E | validated | |
| GARD | 7848 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:95157Acute hepatic porphyria
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare hepatic diseases; rare skin diseases; rare renal diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PPOX | Disease-causing germline mutation(s) in | Assessed | HGNC:9280 | ENSG00000143224 | 600923 | 1q23.3 | protoporphyrinogen oxidase | 23409300[PMID] |
5
Prevalence and incidence
22 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.008 / 100 000 | Europe | Value and class | Not yet validated | 23114748[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.32 / 100 000 | Europe | Value and class | Not yet validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.012 / 100 000 | France | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.48 / 100 000 | France | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.006 / 100 000 | Finland | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.24 / 100 000 | Finland | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.016 / 100 000 | Ireland | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.64 / 100 000 | Ireland | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.006 / 100 000 | Italy | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.24 / 100 000 | Netherlands | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.24 / 100 000 | Italy | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.006 / 100 000 | Netherlands | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.007 / 100 000 | Norway | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.28 / 100 000 | Norway | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.004 / 100 000 | Spain | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.16 / 100 000 | Spain | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.011 / 100 000 | Sweden | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.44 / 100 000 | Sweden | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.026 / 100 000 | Switzerland | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.04 / 100 000 | Switzerland | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.008 / 100 000 | United Kingdom | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.32 / 100 000 | United Kingdom | Value and class | Validated | 23114748[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
48 annotations · validated 2020-08-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0010472 | Abnormal circulating porphyrin concentration | |
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0012217 | Increased urinary porphobilinogen | |
| HP:0010473 | Porphyrinuria | |
| Frequent (79-30%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0000739 | Anxiety | |
| HP:0000708 | Atypical behavior | |
| HP:0003418 | Back pain | |
| HP:0100749 | Chest pain | |
| HP:0002019 | Constipation | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0003163 | Elevated urinary delta-aminolevulinic acid | |
| HP:0007178 | Motor polyneuropathy | |
| HP:0001324 | Muscle weakness | |
| HP:0008997 | Proximal muscle weakness in upper limbs | |
| HP:0200041 | Skin erosion | |
| HP:0200037 | Skin vesicle | |
| HP:0002273 | Tetraparesis | |
| Occasional (29-5%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0001347 | Hyperreflexia | |
| HP:0000822 | Hypertension | |
| HP:0000998 | Hypertrichosis | |
| HP:0002902 | Hyponatremia | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0001265 | Hyporeflexia | |
| HP:0002595 | Ileus | |
| HP:0031218 | Inappropriate antidiuretic hormone secretion | |
| HP:0011355 | Localized skin lesion | |
| HP:0001056 | Milia | |
| HP:0002018 | Nausea | |
| HP:0000011 | Neurogenic bladder | |
| HP:0002203 | Respiratory paralysis | |
| HP:0100699 | Scarring | |
| HP:0001250 | Seizure | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0001649 | Tachycardia | |
| HP:0001072 | Thickened skin | |
| Very rare (<4-1%) | ||
| HP:0001392 | Abnormality of the liver | |
| HP:0001903 | Anemia | |
| HP:0012622 | Chronic kidney disease | |
| HP:0001259 | Coma | |
| HP:0000738 | Hallucinations | |
| HP:0001402 | Hepatocellular carcinoma | |
| HP:0011999 | Paranoia | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 12357337[PMID]_22049218[PMID]_20309300[PMID]_31085196[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79473
- This record as JSON: /data/d/79473.json