ORPHA:100924
Porphyria due to ALA dehydratase deficiency
Synonyms: ALAD porphyria · Porphyria due to ALAD deficiency · Porphyria due to delta-aminolevulinate dehydratase deficiency · Porphyria of Doss
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare acute hepatic porphyria characterized by neurovisceral attacks without skin symptoms.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Porphyria due to ALA dehydratase deficiency | ALAD porphyria · Porphyria due to ALAD deficiency · Porphyria due to delta-aminolevulinate dehydratase deficiency · Porphyria of Doss |
| fr | Porphyrie par déficit en ALA déshydratase | Porphyrie de Doss · Porphyrie par déficit en ALAD · Porphyrie par déficit en delta-aminolévulinate déshydratase |
| de | Porphyrie durch ALA-Dehydratase-Mangel | ALAD-Porphyrie · Doss-Porphyrie · Porphyrie durch ALAD-Mangel · Porphyrie durch delta-Aminolävulinsäure-Dehydratase-Mangel |
| es | Porfiria por deficiencia de ALA-deshidratasa | ALAD · Porfiria ALAD · Porfiria de Doss · Porfiria por deficiencia de delta-aminolevulínico-deshidratasa |
| it | Porfiria da deficit di ALA deidratasi | Porfiria da ALAD · Porfiria da deficit di ALAD · Porfiria da deficit di delta-aminolevulinico deidratasi · Porfiria di Doss |
| nl | Porfyrie door deficiëntie van ALA-dehydratase | ALAD-porfyrie · Porfyrie door ALAD-deficiëntie · Porfyrie door deficiëntie van delta-aminolevulinaatdehydratase · Porfyrie door deficiëntie van delta-aminolevulinezuurdehydratase · Porfyrie van Doss |
| pt | Porfiria por deficiência de ALA desidratase | Porfiria de Doss |
| pl | Porfiria z powodu niedoboru dehydratazy ALA | Porfiria ALAD · Porfiria Doss · Porfiria z powodu niedoboru ALAD · Porfiria z powodu niedoboru dehydratazy kwasu delta-aminolewulinowego |
| cs | Porfyrie způsobená deficitem ALA hydratázy | ALAD porfyrie · Dossova porfyrie · Porfyrie způsobená ALA deficitem · Porfyrie způsobená deficitem delta-aminolevulonát dehydratázy |
| uk | Порфірія внаслідок дефіциту ALA-дегідратази | Порфірія ALAD · Порфірія внаслідок дефіциту ALAD · Порфірія внаслідок дефіциту дельта-амінолевулінатдегідратази · Порфірія Досса |
| zh | 氨基乙酰丙酸脱水酶缺乏性卟啉症 | δ-氨基乙酰丙酸脱水酶缺乏性卟啉症 |
| tr | ALA dehidratasyon eksikliğine bağlı porfiri | ALAD porfiri · Doss Porfiri · ALAD eksikliğine bağlı porfiri · Delta-aminolevulinat dehidrataz eksikliğine bağlı porfiri |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612740 | E | validated | |
| ICD-10 | E80.2 | NTBT | attributed | validated |
| ICD-11 | 5C58.1Y | NTBT | index | validated |
| MONDO | 0013000 | E | validated | |
| UMLS | C0268328 | 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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALAD | Disease-causing germline mutation(s) in | Assessed | HGNC:395 | ENSG00000148218 | 125270 | 9q32 | aminolevulinate dehydratase | 2063868[PMID]_16343966[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
43 annotations · validated 2021-05-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0010472 | Abnormal circulating porphyrin concentration | |
| HP:0030272 | Abnormal erythrocyte enzyme activity | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0012187 | Increased erythrocyte protoporphyrin concentration | |
| HP:0033010 | Increased fecal coproporphyrin 3 | |
| HP:0012217 | Increased urinary porphobilinogen | |
| HP:0001324 | Muscle weakness | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0040322 | Purple urine | |
| Occasional (29-5%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0100852 | Abnormal fear/anxiety-related behavior | |
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0000713 | Agitation | |
| HP:0006466 | Ankle flexion contracture | |
| HP:0000739 | Anxiety | |
| HP:0000741 | Apathy | |
| HP:0000717 | Autism | |
| HP:0001289 | Confusion | |
| HP:0002019 | Constipation | |
| HP:0031258 | Delirium | |
| HP:0000716 | Depression | |
| HP:0002014 | Diarrhea | |
| HP:0001260 | Dysarthria | |
| HP:0002572 | Episodic vomiting | |
| HP:0007159 | Fluctuations in consciousness | |
| HP:0004302 | Functional motor deficit | |
| HP:0001288 | Gait disturbance | |
| HP:0000738 | Hallucinations | |
| HP:0000365 | Hearing impairment | |
| HP:0002902 | Hyponatremia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0003690 | Limb muscle weakness | |
| HP:0007178 | Motor polyneuropathy | |
| HP:0005547 | Myeloproliferative disorder | |
| HP:0002018 | Nausea | |
| HP:0001271 | Polyneuropathy | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0000711 | Restlessness | |
| HP:0000763 | Sensory neuropathy | |
| HP:0005946 | Ventilator dependence with inability to wean | |
| Excluded (0%) | ||
| HP:0011121 | Abnormal skin morphology | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 32809671[PMID]_30766957[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100924
- This record as JSON: /data/d/100924.json