Table 1.

Clinical characteristics

	All (n = 283)	With rare disease (n = 158)	Unaffected relatives (n = 125)
Demography
Age (years)	45.0 [36.0–58.0]	49.5 [33.5–62.0]	42.0 [37.0–57.0]	–
Age ($\ge$60)*	64 (22.6%)	48 (30.4%)	16 (12.8%)	$p<0.001$
Sex (male)*	128 (45.2%)	80 (50.6%)	48 (38.4%)	$p=0.042$
Comorbidities
Chronic cardiovascular disease*	55 (19.4%)	46 (29.1%)	9 (7.2%)	$p<0.001$
Chronic kidney disease*	41 (14.5%)	36 (22.8%)	$\le$5 ($\le$4.0%)#	$p<0.001$
Malignant neoplasm*	30 (10.6%)	23 (14.6%)	7 (5.6%)	$p=0.019$
Moderate or severe liver disease	7 (2.5%)	$\le$5 ($\le$3.2%)	$\le$5 ($\le$4.0%)	–
Obesity (Clinician defined)	62 (21.9%)	35 (22.2%)	27 (21.6%)	–
Chronic pulmonary disease*	49 (17.3%)	35 (22.2%)	14 (11.2%)	$p=0.018$
Diabetes (Type 1 and 2)	33 (11.7%)	19 (12.0%)	14 (11.2%)	–
Number of COVID-19 related comorbidities ($\ge$2)*	79 (27.9%)	60 (38.0%)	19 (15.2%)	$p<0.001$
Rare disease groups
Neurology and neurodevelopmental disorders	66 (23.3%)	66 (41.8%)	–	–
Renal and urinary tract disorders	26 (9.2%)	26 (16.5%)	–	–
Cardiovascular disorders	20 (7.1%)	20 (12.7%)	–	–
Ophthalmological disorders	12 (4.2%)	12 (7.6%)	–	–
Other groups	34 (12.0%)	34 (21.5%)	–	–
Rare disease—Specific diseases
Epilepsy plus other features	18 (6.4%)	18 (11.4%)	–	–
Cystic kidney disease	11 (3.9%)	11 (7.0%)	–	–
Intellectual disability	10 (3.5%)	10 (6.3%)	–	–
Hereditary ataxia	10 (3.5%)	10 (6.3%)	–	–
Unexplained kidney failure in young people	6 (2.1%)	6 (3.8%)	–	–
Ultra-rare undescribed monogenic disorders	6 (2.1%)	6 (3.8%)	–	–
Rod-cone dystrophy	6 (2.1%)	6 (3.8%)	–	–
Other diseases	23 (14.6%)	20 (12.7%)	–	–

Clinical characteristics were reported as count (percentage in group) and median[interquartile range] for binary and continuous variables, respectively.

*Statistically significant difference in the comparison between rare disease patients and unaffected relatives

#Frequencies less than 5 are suppressed due to requirement of data governance