Diseases of the musculoskeletal system and connective tissue
Arthropathies
13q14.11
Juvenile arthritis (JUVAR) is characterized by onset in early childhood of symmetric arthritis in multiple joints, associated with a marked increase in inflammatory markers. Some patients exhibit systemic symptoms, including quotidian fever, erythematous rash, generalized lymphadenopathy, hepatomegaly, and/or splenomegaly. There is high clinical variability, even within the same family. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 618795.1.1 | Lebanon | Female | Yes | Yes | Juvenile rheumatoid arthritis; Lymphaden... Juvenile rheumatoid arthritis; Lymphadenopathy; Quotidian fever; Elevated circulating C-reactive protein concentration; Thrombocytopenia; Acute lymphoblastic leukemia  | NM_153218.4:c.827del | Homozygous | Autosomal, Recessive | Kallinich et al. 2016 | Proband |
| 618795.1.2 | Lebanon | Female | Yes | Yes | Juvenile rheumatoid arthritis; Elevated ... Juvenile rheumatoid arthritis; Elevated circulating C-reactive protein concentration | NM_153218.4:c.827del | Homozygous | Autosomal, Recessive | Kallinich et al. 2016 | Sister of 618795.1.1 |
| 618795.2.1 | Saudi Arabia | Female | Yes | Yes | Juvenile rheumatoid arthritis Juvenile rheumatoid arthritis | NM_153218.4:c.850T>C | Homozygous | Autosomal, Recessive | Wakil et al. 2015 | |
| 618795.2.2 | Saudi Arabia | Female | Yes | Yes | Juvenile rheumatoid arthritis Juvenile rheumatoid arthritis | NM_153218.4:c.850T>C | Homozygous | Autosomal, Recessive | Wakil et al. 2015 | Sister of 618795.2.1 |
| 618795.2.3 | Saudi Arabia | Female | Yes | Yes | Juvenile rheumatoid arthritis Juvenile rheumatoid arthritis | NM_153218.4:c.850T>C | Homozygous | Autosomal, Recessive | Wakil et al. 2015 | Sister of 618795.2.1 |
| 618795.3.1 | Saudi Arabia | Female | No | Yes | Juvenile rheumatoid arthritis Juvenile rheumatoid arthritis | NM_153218.4:c.850T>C | Homozygous | Autosomal, Recessive | Wakil et al. 2015 | |
| 618795.4.1 | Saudi Arabia | Female | Yes | Yes | Juvenile rheumatoid arthritis Juvenile rheumatoid arthritis | NM_153218.4:c.850T>C | Homozygous | Autosomal, Recessive | Wakil et al. 2015 | |
| 618795.4.2 | Saudi Arabia | Female | Yes | Yes | Juvenile rheumatoid arthritis Juvenile rheumatoid arthritis | NM_153218.4:c.850T>C | Homozygous | Autosomal, Recessive | Wakil et al. 2015 | Sister of 618795.4.1 |
| 618795.4.3 | Saudi Arabia | Female | Yes | Yes | Juvenile rheumatoid arthritis Juvenile rheumatoid arthritis | NM_153218.4:c.850T>C | Homozygous | Autosomal, Recessive | Wakil et al. 2015 | Sister of 618795.4.1 |
| 618795.5.1 | Saudi Arabia | Male | Yes | Yes | Juvenile rheumatoid arthritis Juvenile rheumatoid arthritis | NM_153218.4:c.850T>C | Homozygous | Autosomal, Recessive | Wakil et al. 2015 | |
| 618795.5.2 | Saudi Arabia | Female | Yes | Yes | Juvenile rheumatoid arthritis Juvenile rheumatoid arthritis | NM_153218.4:c.850T>C | Homozygous | Autosomal, Recessive | Wakil et al. 2015 | Sister of 618795.5.1 |
| 618795.6.1 | Saudi Arabia | Female | Yes | Yes | Juvenile rheumatoid arthritis Juvenile rheumatoid arthritis | NM_153218.4:c.850T>C | Homozygous | Autosomal, Recessive | Wakil et al. 2015 | |
| 618795.6.2 | Saudi Arabia | Female | Yes | Yes | Juvenile rheumatoid arthritis Juvenile rheumatoid arthritis | NM_153218.4:c.850T>C | Homozygous | Autosomal, Recessive | Wakil et al. 2015 | Sister of 618795.6.1 |
| 618795.7.1 | Saudi Arabia | Female | Yes | Yes | Juvenile rheumatoid arthritis Juvenile rheumatoid arthritis | NM_153218.4:c.850T>C | Homozygous | Autosomal, Recessive | Wakil et al. 2015 | |
| 618795.7.2 | Saudi Arabia | Female | Yes | Yes | Juvenile rheumatoid arthritis Juvenile rheumatoid arthritis | NM_153218.4:c.850T>C | Homozygous | Autosomal, Recessive | Wakil et al. 2015 | Sister of 618795.7.1 |