MCID: ATN014
MIFTS: 31

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 57 75 6
Hereditary Autoinflammatory Diseases 44 73
Aiadk 57 75

Characteristics:

OMIM:

57
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:

32
autoinflammation with arthritis and dyskeratosis:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Autoinflammation with Arthritis and Dyskeratosis

OMIM : 57 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. 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 Pathway and Apoptosis and Autophagy. Affiliated tissues include skin, b cells and thyroid, and related phenotypes are uveitis and photophobia

UniProtKB/Swiss-Prot : 75 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 28.9 IL18 NLRP1
2 familial mediterranean fever 11.0
3 familial cold autoinflammatory syndrome 9.3 CASP1 IL18
4 salmonellosis 9.2 CASP1 IL18

Symptoms & Phenotypes for Autoinflammation with Arthritis and Dyskeratosis

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive
growth retardation, moderate

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)

AbdomenSpleen:
splenomegaly (requiring splenectomy, patient a)

Skeletal Hands:
arthritis of the hands

Skin Nails Hair Hair:
hair casts

Hematology:
hemolytic anemia, autoimmune (patient a)

Head And Neck Eyes:
photophobia
corneal neovascularization
uveitis
punctate keratitis
corneal dyskeratosis
more
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:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 uveitis 32 HP:0000554
2 photophobia 32 HP:0000613
3 dry skin 32 HP:0000958
4 hyperkeratosis 32 HP:0000962
5 keratoconjunctivitis sicca 32 HP:0001097
6 failure to thrive 32 HP:0001508
7 growth delay 32 HP:0001510
8 splenomegaly 32 HP:0001744
9 autoimmune hemolytic anemia 32 HP:0001890
10 increased iga level 32 HP:0003261
11 antinuclear antibody positivity 32 HP:0003493
12 polyarticular arthritis 32 HP:0005764
13 corneal neovascularization 32 HP:0011496
14 punctate keratitis 32 HP:0011859
15 epidermal acanthosis 32 HP:0025092
16 thyroiditis 32 HP:0100646

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

26
# 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:

41
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.2176C> T (p.Arg726Trp) single nucleotide variant Pathogenic rs776245016 GRCh37 Chromosome 17, 5461840: 5461840
3 NLRP1 NM_001033053.2(NLRP1): c.3653C> G (p.Pro1218Arg) single nucleotide variant Pathogenic rs1057524876 GRCh38 Chromosome 17, 5521666: 5521666
4 NLRP1 NM_001033053.2(NLRP1): c.3653C> G (p.Pro1218Arg) single nucleotide variant Pathogenic rs1057524876 GRCh37 Chromosome 17, 5424986: 5424986

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

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 9.37 IL18 NLRP1
2 regulation of apoptotic process GO:0042981 9.32 CASP1 NLRP1
3 cytokine-mediated signaling pathway GO:0019221 9.26 CASP1 IL18
4 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.16 CASP1 NLRP1
5 regulation of inflammatory response GO:0050727 8.96 CASP1 NLRP1
6 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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