PRAAS2
MCID: PRT136
MIFTS: 21

Proteasome-Associated Autoinflammatory Syndrome 2 (PRAAS2)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Proteasome-Associated Autoinflammatory Syndrome 2

MalaCards integrated aliases for Proteasome-Associated Autoinflammatory Syndrome 2:

Name: Proteasome-Associated Autoinflammatory Syndrome 2 57 72 29 6
Praas2 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in early infancy
three unrelated patients have been reported (last curated july 2018)


HPO:

31
proteasome-associated autoinflammatory syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Proteasome-Associated Autoinflammatory Syndrome 2

OMIM® : 57 Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018). For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (256040). (618048) (Updated 05-Apr-2021)

MalaCards based summary : Proteasome-Associated Autoinflammatory Syndrome 2, is also known as praas2. An important gene associated with Proteasome-Associated Autoinflammatory Syndrome 2 is POMP (Proteasome Maturation Protein). Related phenotypes are failure to thrive and fever

UniProtKB/Swiss-Prot : 72 Proteasome-associated autoinflammatory syndrome 2: An autosomal dominant autoinflammatory disorder characterized by onset in early infancy and severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency.

Related Diseases for Proteasome-Associated Autoinflammatory Syndrome 2

Symptoms & Phenotypes for Proteasome-Associated Autoinflammatory Syndrome 2

Human phenotypes related to Proteasome-Associated Autoinflammatory Syndrome 2:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 fever 31 HP:0001945
3 thrombocytopenia 31 HP:0001873
4 arthralgia 31 HP:0002829
5 brachydactyly 31 HP:0001156
6 periorbital edema 31 HP:0100539
7 skin rash 31 HP:0000988
8 recurrent infections 31 HP:0002719
9 lymphadenopathy 31 HP:0002716
10 elevated erythrocyte sedimentation rate 31 HP:0003565
11 clinodactyly 31 HP:0030084
12 increased circulating antibody level 31 HP:0010702

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive
poor overall growth

Skeletal:
arthralgia

Skin Nails Hair Skin:
skin rash
skin lesions
neutrophilic dermatosis

Head And Neck Face:
facial edema

Laboratory Abnormalities:
increased erythrocyte sedimentation rate
increased acute phase reactants
increased c-reactive protein

Hematology:
thrombocytopenia

Skeletal Hands:
brachydactyly
clinodactyly

Immunology:
lymphadenopathy
hypergammaglobulinemia
autoantibodies
autoinflammation, chronic
recurrent infections, viral and bacterial
more
Head And Neck Eyes:
periorbital swelling
periorbital erythema
violaceous eyelids

Metabolic Features:
fever, recurrent

Clinical features from OMIM®:

618048 (Updated 05-Apr-2021)

Drugs & Therapeutics for Proteasome-Associated Autoinflammatory Syndrome 2

Search Clinical Trials , NIH Clinical Center for Proteasome-Associated Autoinflammatory Syndrome 2

Genetic Tests for Proteasome-Associated Autoinflammatory Syndrome 2

Genetic tests related to Proteasome-Associated Autoinflammatory Syndrome 2:

# Genetic test Affiliating Genes
1 Proteasome-Associated Autoinflammatory Syndrome 2 29 POMP

Anatomical Context for Proteasome-Associated Autoinflammatory Syndrome 2

Publications for Proteasome-Associated Autoinflammatory Syndrome 2

Articles related to Proteasome-Associated Autoinflammatory Syndrome 2:

# Title Authors PMID Year
1
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. 57 6
29805043 2018
2
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. 57 6
26524591 2015
3
An unknown autoinflammatory syndrome associated with short stature and dysmorphic features in a young boy. 57 6
12022327 2002
4
KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease. 61
32425927 2020

Variations for Proteasome-Associated Autoinflammatory Syndrome 2

ClinVar genetic disease variations for Proteasome-Associated Autoinflammatory Syndrome 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POMP NM_015932.6(POMP):c.340_344dup (p.Glu115fs) Duplication Pathogenic 548959 rs1555257075 GRCh37: 13:29246548-29246549
GRCh38: 13:28672411-28672412
2 POMP NM_015932.6(POMP):c.342_348delinsACC (p.Phe114fs) Indel Pathogenic 548960 rs1555257076 GRCh37: 13:29246553-29246559
GRCh38: 13:28672416-28672422
3 POMP NM_015932.6(POMP):c.334_335del (p.Ile112fs) Deletion Pathogenic 522801 rs1555257073 GRCh37: 13:29246544-29246545
GRCh38: 13:28672407-28672408

Expression for Proteasome-Associated Autoinflammatory Syndrome 2

Search GEO for disease gene expression data for Proteasome-Associated Autoinflammatory Syndrome 2.

Pathways for Proteasome-Associated Autoinflammatory Syndrome 2

GO Terms for Proteasome-Associated Autoinflammatory Syndrome 2

Sources for Proteasome-Associated Autoinflammatory Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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