MCID: ATN014
MIFTS: 27

Autoinflammation with Arthritis and Dyskeratosis

Categories: Genetic diseases

Aliases & Classifications for Autoinflammation with Arthritis and Dyskeratosis

MalaCards integrated aliases for Autoinflammation with Arthritis and Dyskeratosis:

Name: Autoinflammation with Arthritis and Dyskeratosis 54 71
Hereditary Autoinflammatory Diseases 42 69
Aiadk 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant
autosomal recessive

Miscellaneous:
variable features present
based on report of 2 double first cousins and 1 unrelated sporadic heterozygote (patient a)


Classifications:



External Ids:

OMIM 54 617388
MedGen 40 CN240904

Summaries for Autoinflammation with Arthritis and Dyskeratosis

OMIM : 54
Autoinflammation with arthritis and dyskeratosis is characterized by recurrent fever, widespread skin dyskeratosis, arthritis, elevated biologic markers of inflammation, and mild autoimmunity with a high transitional B-cell level (summary by Grandemange et al., 2016). (617388)

MalaCards based summary : Autoinflammation with Arthritis and Dyskeratosis, also known as hereditary autoinflammatory diseases, is related to arthritis and atherosclerosis. An important gene associated with Autoinflammation with Arthritis and Dyskeratosis is NLRP1 (NLR Family Pyrin Domain Containing 1), and among its related pathways/superpathways are Toll-Like receptor Signaling Pathways and RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways. Affiliated tissues include skin, b cells and thyroid, and related phenotype is Synthetic lethal with MLN4924 (a NAE inhibitor).

UniProtKB/Swiss-Prot : 71 Autoinflammation with arthritis and dyskeratosis: A disorder characterized by recurrent fever, diffuse skin dyskeratosis, autoinflammation, autoimmunity, arthritis and high transitional B-cell level. Inheritance can be autosomal dominant or autosomal recessive.

Related Diseases for Autoinflammation with Arthritis and Dyskeratosis

Diseases related to Autoinflammation with Arthritis and Dyskeratosis via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 arthritis 10.0
2 atherosclerosis 9.7 IL18 NLRP1
3 giant axonal neuropathy 2 9.4 CASP1 IL18
4 isolated growth hormone deficiency 9.2 CASP1 IL18
5 nail disorder, nonsyndromic congenital, 7 8.9 CASP1 IL18 NLRP1

Graphical network of the top 20 diseases related to Autoinflammation with Arthritis and Dyskeratosis:



Diseases related to Autoinflammation with Arthritis and Dyskeratosis

Symptoms & Phenotypes for Autoinflammation with Arthritis and Dyskeratosis

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive
growth retardation, moderate

Head And Neck- Eyes:
photophobia
uveitis
punctate keratitis
corneal dyskeratosis
corneal neovascularization
more
Laboratory- Abnormalities:
hypereosinophilia
persistently elevated c-reactive protein (crp)
reduced levels of vitamin a
reduced levels of retinal-binding protein
reduced levels of vitamin c

Head And Neck- Neck:
thyroiditis (patient a)

Respiratory- Airways:
subglottic edema (patient a)

Abdomen- Spleen:
splenomegaly (requiring splenectomy, patient a)

Skeletal- Hands:
arthritis of the hands

Skin Nails & Hair- Hair:
hair casts

Hematology:
hemolytic anemia, autoimmune (patient a)

Skin Nails & Hair- Skin Histology:
acanthosis
hyperkeratosis
prominent granular cell layer
mild papillomatosis
dyskeratotic eosinophilic cells throughout all layers
more
Skin Nails & Hair- Skin:
xerosis
impaired sweating
widespread follicular hyperkeratosis
filiform hyperkeratosis
brownish-purple pigmented macules in areas of hyperkeratosis
more
Immunology:
hypereosinophilia
chronic candidiasis (patient a)
recurrent giardia intestinalis infections
elevated igg
elevated iga
more
Respiratory- Larynx:
verrucous lesions on vocal cords

Abdomen- Liver:
massive hepatomegaly (patient a)

Skeletal- Limbs:
polyarticular arthritis (involving wrists, knees, and ankles)
bilateral medial metaphyseal lesions in femora
abnormal striations of distal femoral metaphyses
dense and irregular condensations in metaphyseal plates of distal femur and proximal tibia

Skin Nails & Hair- Nails:
dyskeratotic nails

Metabolic Features:
recurrent episodes of fever


Clinical features from OMIM:

617388

GenomeRNAi Phenotypes related to Autoinflammation with Arthritis and Dyskeratosis according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.4 CASP1 IL18 NLRP1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.4 CASP1 IL18 NLRP1

Drugs & Therapeutics for Autoinflammation with Arthritis and Dyskeratosis

Search Clinical Trials , NIH Clinical Center for Autoinflammation with Arthritis and Dyskeratosis

Cochrane evidence based reviews: hereditary autoinflammatory diseases

Genetic Tests for Autoinflammation with Arthritis and Dyskeratosis

Anatomical Context for Autoinflammation with Arthritis and Dyskeratosis

MalaCards organs/tissues related to Autoinflammation with Arthritis and Dyskeratosis:

39
Skin, B Cells, Thyroid

Publications for Autoinflammation with Arthritis and Dyskeratosis

Articles related to Autoinflammation with Arthritis and Dyskeratosis:

id Title Authors Year
1
A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis). ( 27965258 )
2017

Variations for Autoinflammation with Arthritis and Dyskeratosis

ClinVar genetic disease variations for Autoinflammation with Arthritis and Dyskeratosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NLRP1 NM_001033053.2(NLRP1): c.2176C> T (p.Arg726Trp) single nucleotide variant Pathogenic rs776245016 GRCh38 Chromosome 17, 5558520: 5558520
2 NLRP1 NM_001033053.2(NLRP1): c.3653C> G (p.Pro1218Arg) single nucleotide variant Pathogenic rs1057524876 GRCh38 Chromosome 17, 5521666: 5521666

Expression for Autoinflammation with Arthritis and Dyskeratosis

Search GEO for disease gene expression data for Autoinflammation with Arthritis and Dyskeratosis.

Pathways for Autoinflammation with Arthritis and Dyskeratosis

Pathways related to Autoinflammation with Arthritis and Dyskeratosis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.33 CASP1 IL18 NLRP1
2
Show member pathways
12.1 CASP1 IL18
3 11.7 CASP1 NLRP1
4
Show member pathways
11.46 CASP1 NLRP1
5 11.3 CASP1 IL18
6 11 CASP1 IL18
7 10.74 CASP1 IL18 NLRP1
8 10.14 CASP1 IL18 NLRP1
9 10 CASP1 IL18

GO Terms for Autoinflammation with Arthritis and Dyskeratosis

Cellular components related to Autoinflammation with Arthritis and Dyskeratosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 NLRP1 inflammasome complex GO:0072558 8.62 CASP1 NLRP1

Biological processes related to Autoinflammation with Arthritis and Dyskeratosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.32 IL18 NLRP1
2 regulation of apoptotic process GO:0042981 9.26 CASP1 NLRP1
3 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.16 CASP1 NLRP1
4 regulation of inflammatory response GO:0050727 8.96 CASP1 NLRP1
5 positive regulation of interleukin-1 beta secretion GO:0050718 8.62 CASP1 NLRP1

Molecular functions related to Autoinflammation with Arthritis and Dyskeratosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cysteine-type endopeptidase activator activity involved in apoptotic process GO:0008656 8.62 CASP1 NLRP1

Sources for Autoinflammation with Arthritis and Dyskeratosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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