Aliases & Classifications for Arthritis, Sacroiliac

MalaCards integrated aliases for Arthritis, Sacroiliac:

Name: Arthritis, Sacroiliac 57 6

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
arthritis, sacroiliac:
Inheritance autosomal dominant inheritance


External Ids:

OMIM® 57 108100
MedGen 41 C0748473

Summaries for Arthritis, Sacroiliac

MalaCards based summary : Arthritis, Sacroiliac An important gene associated with Arthritis, Sacroiliac is RELN (Reelin). Related phenotypes are paresthesia and pruritus

More information from OMIM: 108100

Related Diseases for Arthritis, Sacroiliac

Symptoms & Phenotypes for Arthritis, Sacroiliac

Human phenotypes related to Arthritis, Sacroiliac:

31
# Description HPO Frequency HPO Source Accession
1 paresthesia 31 very rare (1%) HP:0003401
2 pruritus 31 HP:0000989
3 sacroiliac arthritis 31 HP:0012317

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Kidneys:
renal disease, uncharacterized (in some patients)

Skeletal Hands:
swelling (in some patients)
tingling (in some patients)
itching (in some patients)

Laboratory Abnormalities:
elevated uric acid on urinalysis (in some patients)

Skeletal Pelvis:
sacroiliac pain, intermittent, severe

Skeletal Feet:
swelling (in some patients)
tingling (in some patients)
itching (in some patients)

Clinical features from OMIM®:

108100 (Updated 20-May-2021)

Drugs & Therapeutics for Arthritis, Sacroiliac

Search Clinical Trials , NIH Clinical Center for Arthritis, Sacroiliac

Genetic Tests for Arthritis, Sacroiliac

Anatomical Context for Arthritis, Sacroiliac

Publications for Arthritis, Sacroiliac

Articles related to Arthritis, Sacroiliac:

# Title Authors PMID Year
1
Distribution of HLA-B27 and CYP2D6*4 mutations in the middle Black Sea area (Tokat) of Turkey. 61
22180068 2011
2
[Chlamydia-associated arthritis and enteropathic arthritis--two important spondyloarthritides]. 61
21720100 2011
3
Sacroiliac joint involvement in psoriasis. 61
20354857 2010

Variations for Arthritis, Sacroiliac

ClinVar genetic disease variations for Arthritis, Sacroiliac:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RELN NM_005045.4(RELN):c.7456A>G (p.Ser2486Gly) SNV Pathogenic 684430 rs760019076 GRCh37: 7:103163872-103163872
GRCh38: 7:103523425-103523425

Expression for Arthritis, Sacroiliac

Search GEO for disease gene expression data for Arthritis, Sacroiliac.

Pathways for Arthritis, Sacroiliac

GO Terms for Arthritis, Sacroiliac

Sources for Arthritis, Sacroiliac

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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