ORPHA:79276
Acute intermittent porphyria
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A form of acute hepatic porphyria characterized by the occurrence of neurovisceral attacks without cutaneous symptoms.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute intermittent porphyria | |
| fr | Porphyrie aiguë intermittente | |
| de | Porphyrie, akute intermittierende | |
| es | Porfiria aguda intermitente | |
| it | Porfiria intermittente acuta | |
| nl | Acute intermitterende porfyrie | |
| pt | Porfiria aguda intermitente | |
| pl | Ostra porfiria przerywana | |
| cs | Akutní intermitentní porfyrie | |
| uk | Гостра інтермітуюча порфірія | |
| zh | 急性间歇型卟啉病 | |
| tr | Akut intermittent porfiri |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 176000 | E | validated | |
| ICD-10 | E80.2 | NTBT | attributed | validated |
| ICD-11 | 5C58.1Y | NTBT | index | validated |
| MONDO | 0008294 | E | validated | |
| MeSH | D017118 | E | validated | |
| UMLS | C0162565 | E | validated | |
| GARD | 5732 | 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 |
|---|---|---|---|---|---|---|---|---|
| HMBS | Disease-causing germline mutation(s) in | Assessed | HGNC:4982 | ENSG00000256269 | 609806 | 11q23.3 | hydroxymethylbilane synthase | 20301372[PMID] |
5
Prevalence and incidence
22 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.013 / 100 000 | Europe | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.54 / 100 000 | Europe | Value and class | 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 | 0.55 / 100 000 | France | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.011 / 100 000 | Italy | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.5 / 100 000 | Italy | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.013 / 100 000 | Finland | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.59 / 100 000 | Finland | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.018 / 100 000 | Netherlands | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.81 / 100 000 | Netherlands | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.014 / 100 000 | Norway | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.63 / 100 000 | Norway | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.016 / 100 000 | Poland | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.72 / 100 000 | Poland | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.014 / 100 000 | Spain | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.63 / 100 000 | Spain | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.051 / 100 000 | Sweden | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | Sweden | Value and class | Validated | 12372055[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.022 / 100 000 | Switzerland | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.99 / 100 000 | Switzerland | Value and class | Validated | 23114748[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.016 / 100 000 | United Kingdom | Value and class | Validated | 23114748[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.72 / 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
51 annotations · validated 2020-06-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0003163 | Elevated urinary delta-aminolevulinic acid | |
| HP:0012217 | Increased urinary porphobilinogen | |
| HP:0010473 | Porphyrinuria | |
| Frequent (79-30%) | ||
| HP:0003418 | Back pain | |
| HP:0002019 | Constipation | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0000822 | Hypertension | |
| HP:0009763 | Limb pain | |
| HP:0001268 | Mental deterioration | |
| HP:0002017 | Nausea and vomiting | |
| HP:0030833 | Neck pain | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000083 | Renal insufficiency | |
| HP:0001649 | Tachycardia | |
| Occasional (29-5%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0000739 | Anxiety | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0001289 | Confusion | |
| HP:0040319 | Dark urine | |
| HP:0000716 | Depression | |
| HP:0002014 | Diarrhea | |
| HP:0002460 | Distal muscle weakness | |
| HP:0001262 | Excessive daytime somnolence | |
| HP:0001945 | Fever | |
| HP:0000738 | Hallucinations | |
| HP:0001402 | Hepatocellular carcinoma | |
| HP:0002902 | Hyponatremia | |
| HP:0002595 | Ileus | |
| HP:0100785 | Insomnia | |
| HP:0002354 | Memory impairment | |
| HP:0007002 | Motor axonal neuropathy | |
| HP:0007178 | Motor polyneuropathy | |
| HP:0011999 | Paranoia | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| HP:0008997 | Proximal muscle weakness in upper limbs | |
| HP:0007024 | Pseudobulbar paralysis | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002203 | Respiratory paralysis | |
| HP:0000711 | Restlessness | |
| HP:0001250 | Seizure | |
| HP:0003474 | Somatic sensory dysfunction | |
| HP:0004347 | Weakness of muscles of respiration | |
| Very rare (<4-1%) | ||
| HP:0001259 | Coma | |
| HP:0100518 | Dysuria | |
| HP:0000975 | Hyperhidrosis | |
| HP:0001337 | Tremor | |
| HP:0000020 | Urinary incontinence | |
| HP:0000016 | Urinary retention | |
| Excluded (0%) | ||
| HP:0011121 | Abnormal skin morphology | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 20301372[PMID]_29383964[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79276
- This record as JSON: /data/d/79276.json