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PRAAS1
MCID: PRT133
MIFTS: 65
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Proteasome-Associated Autoinflammatory Syndrome 1 (PRAAS1)
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 1:
Characteristics:Orphanet epidemiological data:59
nakajo-nishimura syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: young Adult;
jmp syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;
candle syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;
proteasome disability syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy,Neonatal; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset of autoinflammation in infancy or first few years of life onset of lipodystrophy later in childhood onset of joint contractures later in life some features are variable HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Eye diseases Bone diseases Skin diseases Endocrine diseases Blood diseases Immune diseases
ICD10:
34
33
Orphanet: 59
Rare systemic and rhumatological diseases
Rare skin diseases
Rare endocrine diseases
Rare immunological diseases
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OMIM
:
57
This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).
This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions.
(256040)
MalaCards based summary : Proteasome-Associated Autoinflammatory Syndrome 1, also known as jmp syndrome, is related to nakajo syndrome and bone inflammation disease. An important gene associated with Proteasome-Associated Autoinflammatory Syndrome 1 is PSMB8 (Proteasome Subunit Beta 8), and among its related pathways/superpathways are Proteasome and Innate Immune System. Affiliated tissues include neutrophil, skin and bone, and related phenotypes are hyperhidrosis and muscle weakness Disease Ontology : 12 An autosomal recessive disease that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy. Genetics Home Reference : 25 Nakajo-Nishimura syndrome is an inherited condition that affects many parts of the body and has been described only in the Japanese population. Beginning in infancy or early childhood, affected individuals develop red, swollen lumps (nodular erythema) on the skin that occur most often in cold weather; recurrent fevers; and elongated fingers and toes with widened and rounded tips (clubbing). NIH Rare Diseases : 53 Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature, also known as CANDLE syndrome, is a rare autoinflammatory condition. Signs and symptoms generally develop during the first year of life and may include recurrent fevers, purpura, swollen eyelids, joint pain, contractures, developmental delay and progressive lipodystrophy. CANDLE syndrome is often caused by changes (mutations) in the PSMB8 gene and is inherited in an autosomal recessive manner. In some cases, the underlying genetic cause is unknown. There is currently no cure for the condition. Treatment is based on the signs and symptoms present in each person. UniProtKB/Swiss-Prot : 75 Proteasome-associated autoinflammatory syndrome 1: An autosomal recessive autoinflammatory disorder characterized by early childhood onset of recurrent fever, joint stiffness and severe contractures of the hands and feet, and erythematous skin lesions with subsequent development of lipodystrophy and laboratory evidence of immune dysregulation. Accompanying features may include muscle weakness and atrophy, hepatosplenomegaly, and microcytic anemia. Wikipedia : 76 Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature (CANDLE) syndrome... more... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:256040Human phenotypes related to Proteasome-Associated Autoinflammatory Syndrome 1:59 32 (show top 50) (show all 61)
GenomeRNAi Phenotypes related to Proteasome-Associated Autoinflammatory Syndrome 1 according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Proteasome-Associated Autoinflammatory Syndrome 1:46 (show all 11)
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Cochrane evidence based reviews: inflammation |
MalaCards organs/tissues related to Proteasome-Associated Autoinflammatory Syndrome 1:41
Neutrophil,
Skin,
Bone,
Heart,
Kidney,
Eye,
Skeletal Muscle
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Articles related to Proteasome-Associated Autoinflammatory Syndrome 1:
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Genes related to Proteasome-Associated Autoinflammatory Syndrome 1 (2 elite genes):(show top 50) (show all 51) - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Proteasome-Associated Autoinflammatory Syndrome 1:75
ClinVar genetic disease variations for Proteasome-Associated Autoinflammatory Syndrome 1:6 (show top 50) (show all 71)
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Search
GEO
for disease gene expression data for Proteasome-Associated Autoinflammatory Syndrome 1.
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Pathways related to Proteasome-Associated Autoinflammatory Syndrome 1 according to KEGG:37
Pathways related to Proteasome-Associated Autoinflammatory Syndrome 1 according to GeneCards Suite gene sharing:(show top 50) (show all 86)
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Cellular components related to Proteasome-Associated Autoinflammatory Syndrome 1 according to GeneCards Suite gene sharing:
Biological processes related to Proteasome-Associated Autoinflammatory Syndrome 1 according to GeneCards Suite gene sharing:(show top 50) (show all 71)
Molecular functions related to Proteasome-Associated Autoinflammatory Syndrome 1 according to GeneCards Suite gene sharing:
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