ORPHA:60
Alpha-1-antitrypsin deficiency
Synonyms: Alpha-1-proteinase inhibitor deficiency · Alpha1-antitrypsin deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare hereditary, metabolic disease characterized by serum levels of alpha-1-antitrypsin (AAT) that are well below the normal range. In the most severe form, the disease can clinically manifest with chronic liver disorders (cirrhosis, fibrosis), respiratory disorders (emphysema, bronchiectasis), and rarely panniculitis or vasculitis.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alpha-1-antitrypsin deficiency | Alpha-1-proteinase inhibitor deficiency · Alpha1-antitrypsin deficiency |
| fr | Déficit en alpha-1-antitrypsine | Déficit en alpha1-antitrypsine · Déficit en inhibiteur de protéase alpha-1 |
| de | Alpha-1-Antitrypsin-Mangel | Alpha-1-Proteinase-Inhibitor-Mangel |
| es | Deficiencia de alfa-1 antitripsina | Deficiencia del inhibidor de la proteinasa alfa 1 |
| it | Deficit di alfa-1-antitripsina | Deficit dell'inibitore dell'alfa-1-proteinasi |
| nl | Deficiëntie van alfa-1-antitrypsine | Deficiëntie van alfa-1-proteïnaseremmer · Deficiëntie van alfa1-antitrypsine |
| pt | Deficiência de alfa-1 antitripsina | Deficiência de inibidor de alfa-1-proteinase |
| pl | Niedobór alfa-1-antytrypsyny | Niedobór inhibitora Alfa-1-proteinazy |
| cs | Deficit alfa-1-antitrypsinu | Deficit inhibitoru alfa-1-proteinázy |
| uk | Дефіцит альфа-1-антитрипсину | Дефіцит альфа1-антитрипсину · Дефіцит інгібітора альфа-1-протеїнази |
| zh | α-1-抗胰蛋白酶缺乏症 | = en |
| tr | Alfa-1-antitripsin eksikliği | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613490 | NTBT | validated | |
| ICD-10 | E88.0 | NTBT | inclusion | validated |
| ICD-11 | 5C5A | E | specific | validated |
| MONDO | 0013282 | E | validated | |
| MeSH | D019896 | E | validated | |
| UMLS | C0221757 | E | validated | |
| GARD | 5784 | E | validated | |
| MedDRA | 10001806 | 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 (7):
- ORPHA:93593Nephropathy secondary to a storage or other metabolic disease
rare genetic diseases; rare renal diseases - ORPHA:91088Other metabolic disease
rare inborn errors of metabolism; rare genetic diseases - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders - ORPHA:156610Rare genetic respiratory disease
rare genetic diseases - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases - ORPHA:101944Rare pulmonary disease
rare respiratory diseases - ORPHA:250808Serpinopathy with toxic serpin polymerization
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SERPINA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:8941 | ENSG00000197249 | 107400 | 14q32.13 | serpin family A member 1 | 20301692[PMID] |
5
Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 47.5 / 100 000 | Ireland | Value and class | Validated | 21752289[PMID] |
| Point prevalence | 1-5 / 10 000 | 20 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2016[OTHER] |
| Point prevalence | 1-5 / 10 000 | 25 / 100 000 | Germany | Value and class | Validated | 18855308[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 17 / 100 000 | United States | Value and class | Validated | 10954251[PMID]_18565211[PMID] |
| Point prevalence | 1-5 / 10 000 | 33 / 100 000 | Specific population | Value and class | Validated | 18565211[PMID] |
| Prevalence at birth | 6-9 / 10 000 | 63.5 / 100 000 | Sweden | Value and class | Validated | 1083485[PMID]_18565211[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
21 annotations · validated 2025-10-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002110 | Bronchiectasis | |
| HP:0002097 | Emphysema | |
| HP:0032025 | Reduced circulating alpha-1-antitrypsin concentration | |
| Frequent (79-30%) | ||
| HP:0012387 | Bronchitis | |
| HP:0045051 | Decreased DLCO | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0012115 | Hepatitis | |
| HP:6000976 | Intrahepatic inclusion bodies | |
| HP:0000952 | Jaundice | |
| HP:0008176 | Neonatal unconjugated hyperbilirubinemia | |
| HP:0006579 | Prolonged neonatal jaundice | |
| Occasional (29-5%) | ||
| HP:0002099 | Asthma | |
| HP:0001396 | Cholestasis | |
| HP:0006510 | Chronic pulmonary obstruction | |
| HP:0001394 | Cirrhosis | |
| HP:0032230 | Cytoplasmic antineutrophil antibody positivity | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0001409 | Portal hypertension | |
| Very rare (<4-1%) | ||
| HP:0001402 | Hepatocellular carcinoma | |
| HP:0012490 | Panniculitis | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 32268028[PMID]_20301692[PMID]_37993348[PMID]_35072963[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/60
- This record as JSON: /data/d/60.json