PRAAS3
MCID: PRT134
MIFTS: 29
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Proteasome-Associated Autoinflammatory Syndrome 3 (PRAAS3)
Categories:
Blood diseases, Bone diseases, Endocrine diseases, Eye diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Proteasome-Associated Autoinflammatory Syndrome 3:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in early infancy one patient with only psmb4 mutations has been reported (last curated july 2018) digenic inheritance (mutation in psmb4 and psmb9) has been reported in 1 family (last curated july 2018) Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Eye diseases Skin diseases Bone diseases Endocrine diseases Blood diseases Immune diseases |
OMIM
:
57
Proteasome-associated autoinflammatory syndrome-3 is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications (summary by Brehm et al., 2015).
For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (256040). (617591)
MalaCards based summary : Proteasome-Associated Autoinflammatory Syndrome 3, is also known as proteasome-associated autoinflammatory syndrome 3, digenic. An important gene associated with Proteasome-Associated Autoinflammatory Syndrome 3 is PSMB9 (Proteasome Subunit Beta 9), and among its related pathways/superpathways are Signaling by Wnt and Mitotic Metaphase and Anaphase. Affiliated tissues include skin, liver and bone. UniProtKB/Swiss-Prot : 75 Proteasome-associated autoinflammatory syndrome 3: An autoinflammatory disorder characterized by onset in early infancy and recurrent fever, nodular dermatitis, myositis, panniculitis- induced lipodystrophy, lymphadenopathy, and immune dysregulation. Variable accompanying features may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications. PRAAS3 inheritance is autosomal recessive or digenic. |
Diseases in the Proteasome-Associated Autoinflammatory Syndrome 1 family:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617591 |
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MalaCards organs/tissues related to Proteasome-Associated Autoinflammatory Syndrome 3:41
Skin,
Liver,
Bone,
Eye,
Neutrophil
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ClinVar genetic disease variations for Proteasome-Associated Autoinflammatory Syndrome 3:6
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Search
GEO
for disease gene expression data for Proteasome-Associated Autoinflammatory Syndrome 3.
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Pathways related to Proteasome-Associated Autoinflammatory Syndrome 3 according to GeneCards Suite gene sharing:(show all 18)
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Cellular components related to Proteasome-Associated Autoinflammatory Syndrome 3 according to GeneCards Suite gene sharing:
Biological processes related to Proteasome-Associated Autoinflammatory Syndrome 3 according to GeneCards Suite gene sharing:
Molecular functions related to Proteasome-Associated Autoinflammatory Syndrome 3 according to GeneCards Suite gene sharing:
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