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Acid-Labile Subunit Deficiency (ACLSD)
Alias:
Short Stature Due to Primary Acid-Labile Subunit Deficiency
|
Aclsd
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Decreased Levels of Acid Labile Subunit
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Acid-Labile Subunit, Deficiency of
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Growth Disorders
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Acid-labile subunit deficiency is characterized by severely reduced serum insulin-like growth factor I (IGF1) and IGF-binding protein-3 (IGFBP3) concentrations, leading to mild growth retardation. Pubertal delay in boys and insulin insensitivity are common findings. This disorder results in moderate postnatal growth deficit, markedly low levels of IGF-1 and IGFBP-3, and hyperinsulinemia, without growth hormone deficiency or insensitivity.
Related ID:
Basic Information
Inheritance | Age of Onset | Prevalence | Related Genes | Related Mouse Models | Reference | MALACARDS |
|---|---|---|---|---|---|---|
AR Autosomal recessive | Newborn | -- | 313 | 2964 | 8 |
Medical Symptom
Phenotype Information Associated with the Current Disease:
Categorization: Anatomical classification of the disease manifestations.
HPO Frequency/Orphanet Frequency: Indicates the probability of the manifestation occurring in the current disease, allowing sorting by probability.
HPO Source Accession: Links to HPO for detailed manifestation information.
Data Source: HPO, Orphanet
Gene & Mutation
Genes and Mutations Associated with the Current Disease:
Function: Primary biological roles of the genes.
Score: Indicates the strength of the association between the disease and the gene, with higher scores reflecting stronger associations.
Count: Number of mutations associated with the disease-gene pair. The number in parentheses represents the total data points linked to the same ClinVar ID. Clicking the number reveals mutation details.
Data Source: Clinvar
Related Drugs
Drugs Related to the Current Gene, Displaying CAS Number, Status and Phase.
Data Source: Clinical Trials
Related Mouse Models
Mouse Models Related to the Current Gene. Click on the model name to view detailed information.
Data Source: MGI, Cyagen
References Literature
Most Relevant Literature for the Current Gene, Filterable by Year, Article Type, and Sortable by Impact Factor.
Data Source: UniProt, PubMed