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Table 3 Disease-related loci currently mapped to chromosome 21

From: After 'completion': the changing face of human chromosomes 21 and 22

Gene symbol

Total publications

Publications since [2]

OMIM number

Disorder

APP

132

39 (30%)

104760

Cerebroarterial, Dutch type amyloidosis; APP-related Alzheimer disease-1; chronic schizophrenia

CBS

132

14 (11%)

236200

B6-responsive and nonresponsive comocystinuria; hyperhomocysteinemic thrombosis

SOD1

129

27 (21%)

147450

Amytrophic lateral sclerosis due to SOD1 deficiency

ITGB2

68

5 (7%)

600065

Leukocyte adhesion deficiency

DCR

44

5 (11%)

190685

Down syndrome

HPE1

40

5 (13%)

236100

Holoprosencephaly-1

RUNX1

28

6 (21%)

151385

Acute myeloid leukemia; familial platelet disorder with associated myeloid malignancy

COL6A1

28

4 (14%)

120220

Bethlem myopathy

HLCS

28

2 (7%)

253270

Biotin-responsive and biotin-unresponsive multiple carboxylase deficiency

AIRE

23

10 (43%)

607358

Autoimmune polyglandular disease, type I

PFKL

20

0 (0%)

171860

Hemolytic anemia due to phosphofructokinase deficiency

CRYAA

19

3 (16%)

123580

Cataract, zonular central nuclear, autosomal dominant; cataract, congenital progressive, autosomal recessive; cataract, autosomal dominant nuclear

KCNE1

18

2 (11%)

176261

Jervell and Lange-Nielsen syndrome; long QT syndrome-5

CSTB

17

2 (12%)

601145

Progressive myoclonic epilepsy 1

COL18A1

14

6 (43%)

120328

Knobloch syndrome

DYRK1A

10

2 (20%)

600855

Possible triplicate state responsible for mental defect in Down syndrome

COL6A2

9

4 (44%)

120240

Bethlem myopathy; Ullrich scleroatonic muscular dystrophy

IFNGR2

8

0 (0%)

147569

Atypical, familial disseminated mycobacterial infection

TAM

6

0 (0%)

159595

Transient leukemia of Down syndrome

PRSS7

5

1 (20%)

606635

Enterokinase deficiency

TMPRSS3

4

4 (100%)

605511

Autosomal recessive childhood onset deafness 8; congenital autosomal recessive deafness 10

SLC5A3

4

0 (0%)

600444

{Possible role in Down syndrome}

FTCD

3

1 (33%)

606806

Glutamate formiminotransferase deficiency

CLDN14

2

1 (50%)

605608

Autosomal recessive deafness 29

KCNE2

1

0 (0%)

603796

Long QT syndrome-6

USH1E

1

0 (0%)

602097

Usher syndrome, type 1E

  1. The total number of relevant papers and the number of relevant papers since the chromosome 21 publication [2] are listed. A bold number indicates that there were ten or more post-chromosome locus-related publications; an italic percentage indicates that 25% or more of all locus-related publications appeared after the chromosome sequence was published. Curly brackets indicate examples of mutations that lead to universal susceptibility to a specific infection (diphtheria or polio), to frequent resistance to a specific infection (vivax malaria), protection from nicotine addiction, or other susceptibilities. Data were obtained from the NCBI resources OMIM [17] and PubMed [8].