MCID: ATN014
MIFTS: 32

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 53 71
Hereditary Autoinflammatory Diseases 41 69
Aiadk 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive
autosomal dominant

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


HPO:

31
autoinflammation with arthritis and dyskeratosis:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Autoinflammation with Arthritis and Dyskeratosis

OMIM : 53 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 familial mediterranean fever, and has symptoms including uveitis, photophobia and dry skin. 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 phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and 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:

# Related Disease Score Top Affiliating Genes
1 arthritis 29.3 IL18 NLRP1
2 familial mediterranean fever 11.0
3 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
4 familial cold autoinflammatory syndrome 9.6 CASP1 IL18
5 salmonellosis 9.5 CASP1 IL18

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:

53
Head And Neck Eyes:
photophobia
corneal neovascularization
uveitis
punctate keratitis
corneal dyskeratosis
more
Skin Nails Hair Skin Histology:
hyperkeratosis
acanthosis
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
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)

Growth Other:
failure to thrive
growth retardation, moderate

Immunology:
antinuclear antibodies
elevated iga
hypereosinophilia
elevated ige
chronic candidiasis (patient a)
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

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

Human phenotypes related to Autoinflammation with Arthritis and Dyskeratosis:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 uveitis 31 HP:0000554
2 photophobia 31 HP:0000613
3 dry skin 31 HP:0000958
4 hyperkeratosis 31 HP:0000962
5 keratoconjunctivitis sicca 31 HP:0001097
6 failure to thrive 31 HP:0001508
7 growth delay 31 HP:0001510
8 splenomegaly 31 HP:0001744
9 autoimmune hemolytic anemia 31 HP:0001890
10 increased iga level 31 HP:0003261
11 antinuclear antibody positivity 31 HP:0003493
12 polyarticular arthritis 31 HP:0005764
13 corneal neovascularization 31 HP:0011496
14 punctate keratitis 31 HP:0011859
15 epidermal acanthosis 31 HP:0025092
16 thyroiditis 31 HP:0100646

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

25
# 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:

38
Skin, B Cells, Thyroid

Publications for Autoinflammation with Arthritis and Dyskeratosis

Articles related to Autoinflammation with Arthritis and Dyskeratosis:

# 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
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.32 CASP1 IL18 NLRP1
2
Show member pathways
12.09 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:

# 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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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