Alpha-1-antitrypsin deficiency

Preferred Label : Alpha-1-antitrypsin deficiency;

Symbol : A1ATD;

CISMeF acronym : A1ATD;

Type : Phenotype, molecular basis known;

Description : Alpha-1-antitrypsin deficiency is an autosomal recessive disorder. The most common manifestation is emphysema, which becomes evident by the third to fourth decade. A less common manifestation of the deficiency is liver disease, which occurs in children and adults, and may result in cirrhosis and liver failure. Environmental factors, particularly cigarette smoking, greatly increase the risk of emphysema at an earlier age (Crystal, 1990).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the protease inhibitor 1 gene (PI, 107400.0001);

Neoplasia : Increased hepatocellular carcinoma risk;

Laboratory abnormalities : Serum alpha-1-antitrypsin (Pi) deficiency; Abnormal liver function tests (SGOT, SGPT);

Prefixed ID : #613490;

Details

Origin ID

613490;

UMLS CUI

C0221757;

Currated CISMeF NLP mapping
- Alpha 1 antitrypsine deficiency [PASCAL descriptor]
- Alpha-1 Antitrypsin Deficiency [NCIt concept]
- Alpha-1-antitrypsin deficiency [ICD-11 Category]
- Alpha-1-antitrypsin deficiency [ICD-9 code]
- Alpha-1-antitrypsin deficiency [ORDO Disease]
- Alpha-1-antitrypsin deficiency (disorder) [SNOMED CT concept]
- Disorders of plasma-protein metabolism, not elsewhere classified [ICD-10 Sub-category]
- alpha 1 antitrypsin deficiency [Disease (Nov.)]
- alpha 1-Antitrypsin deficiency [MeSH concept]
- alpha 1-antitrypsin deficiency [DO Concept]
- alpha 1-antitrypsin deficiency [MeSH Descriptor]
- alpha-1 anti-trypsin deficiency [MedDRA Preferred Term]
- alpha-1 antitrypsin deficiency [MedlinePlus Topic]
- alpha-1-antitrypsin deficiency [SNOMED Notion]
DO Cross reference
- alpha 1-antitrypsin deficiency [DO Concept]
Genes related to phenotype
- Serpin peptidase inhibitor, clade a, member 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Chronic bronchitis [HPO term]
- Chronic pulmonary obstruction [HPO term]
- Cirrhosis [HPO term]
- Dyspnea [HPO term]
- Elevated hepatic transaminase [HPO term]
- Hepatocellular carcinoma [HPO term]
- Panacinar emphysema [HPO term]
- Wheezing [HPO term]
ORDO concept(s)
- Alpha-1-antitrypsin deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alpha 1 antitrypsine deficiency [PASCAL descriptor]
- Alpha-1 Antitrypsin Deficiency [NCIt concept]
- Alpha-1 anti-trypsin deficiency [MedDRA LLT]
- Alpha-1 antitrypsin deficiency [MedDRA Preferred Term]
- Alpha-1 proteinase inhibitor deficiency [MedDRA LLT]
- Alpha-1-antitrypsin deficiency [ORDO Disease]
- Alpha-1-antitrypsin deficiency [ICD-9 code]
- Alpha-1-antitrypsin deficiency (disorder) [SNOMED CT concept]
- alpha 1 antitrypsin deficiency [Disease (Nov.)]
- alpha 1-Antitrypsin deficiency [MeSH concept]
- alpha 1-antitrypsin deficiency [MeSH Descriptor]
- alpha 1-antitrypsin deficiency [DO Concept]
- alpha-1 anti-trypsin deficiency [MedDRA Preferred Term]
- alpha-1 antitrypsin deficiency [MedlinePlus Topic]
- alpha-1-antitrypsin deficiency [SNOMED Notion]

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