TAR syndrome (WP5362)

Homo sapiens

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The TAR syndrome (Thrombocytopenia with Absent Radius) is a rare genetic disorder caused by a deletion on the chromosome 1 (GRCh37: chr1:145,394,955-145,807,817 according to Kirov et al. 2014 10.1016/j.biopsych.2013.07.022). The most notable symptoms are the absence of the radius bone, reduced platelet count and cardiac defects. Additionally, patients have an increased susceptibility for psychiatric disorders.

Authors

Ewoud , Javier Millán Acosta , Friederike Ehrhart , Eric Weitz , and Egon Willighagen

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Disease Ontology

disease of mental health disease

Pathway Ontology

disease pathway

Participants
Query Drugst.One

Label Type Compact URI Comment
BMP Metabolite chebi:60815
DNA Metabolite chebi:16991
Collagen Metabolite chebi:3815
TBP Metabolite chebi:35019
RNA Metabolite chebi:33697
SLC34A3 GeneProduct ensembl:ENSG00000198569
RBCK1 GeneProduct ensembl:ENSG00000125826
GPR89A GeneProduct ensembl:ENSG00000117262
EGFR GeneProduct ensembl:ENSG00000146648
PDZK1IP1 GeneProduct ensembl:ENSG00000162366
AKAP10 GeneProduct ensembl:ENSG00000108599
SLK GeneProduct ensembl:ENSG00000065613
SLC22A4 GeneProduct ensembl:ENSG00000197208
FARP2 GeneProduct ensembl:ENSG00000006607
MTA1 GeneProduct ensembl:ENSG00000182979
UBE2I GeneProduct ensembl:ENSG00000103275
POLR3C GeneProduct ensembl:ENSG00000186141
TXNIP GeneProduct ensembl:ENSG00000117289
LCK GeneProduct ensembl:ENSG00000182866
ITGB1 GeneProduct ensembl:ENSG00000150093
PDZK1 GeneProduct ensembl:ENSG00000174827
SLC22A12 GeneProduct ensembl:ENSG00000197891
IFNG GeneProduct ensembl:ENSG00000111537
CLCN3 GeneProduct ensembl:ENSG00000109572
HLA-B GeneProduct ensembl:ENSG00000234745
CD160 GeneProduct ensembl:ENSG00000117281
MET GeneProduct ensembl:ENSG00000105976
ANKRD35 GeneProduct ensembl:ENSG00000198483
SUMO2 GeneProduct ensembl:ENSG00000188612
TNFRSF14 GeneProduct ensembl:ENSG00000157873
SLC9A3R1 GeneProduct ensembl:ENSG00000109062
RNF115 GeneProduct ensembl:ENSG00000121848 BCA2, ZNF364, ring finger protein 115, ZFP364, RABRING7
CXCR4 GeneProduct ensembl:ENSG00000121966
DDIT4 GeneProduct ensembl:ENSG00000168209
HJV GeneProduct ensembl:ENSG00000168509 HAEMOJUVELIN, HEMOJUVELIN, HFE2, HFE2A
CCAR2 GeneProduct ensembl:ENSG00000158941
PEX19 GeneProduct ensembl:ENSG00000162735
FLT3 GeneProduct ensembl:ENSG00000122025
DNM1 GeneProduct ensembl:ENSG00000106976
CD3 GeneProduct ensembl:ENSG00000167286
BRF1 GeneProduct ensembl:ENSG00000185024
EIF4A3 GeneProduct ensembl:ENSG00000141543
ZFHX3 GeneProduct ensembl:ENSG00000140836
STAT3 GeneProduct ensembl:ENSG00000168610
CD247 GeneProduct ensembl:ENSG00000198821
CFTR GeneProduct ensembl:ENSG00000001626
TXN GeneProduct ensembl:ENSG00000136810
MITD1 GeneProduct ensembl:ENSG00000158411
HAMP GeneProduct ensembl:ENSG00000105697 Hepcidin
Interferon Type I (α/β/δ...) GeneProduct pfam:PF00143
HLA-G GeneProduct ensembl:ENSG00000204632
HLA-C GeneProduct ensembl:ENSG00000204525
ITGA10 GeneProduct ensembl:ENSG00000143127
HDAC2 GeneProduct ensembl:ENSG00000196591
PI3K GeneProduct pfam:PF00454
MAGOH GeneProduct ensembl:ENSG00000162385
POLR3F GeneProduct ensembl:ENSG00000132664
FURIN GeneProduct ensembl:ENSG00000140564
POLR3G GeneProduct ensembl:ENSG00000113356
SIRT1 GeneProduct ensembl:ENSG00000096717
NFKB1 GeneProduct ensembl:ENSG00000109320
HLA-A GeneProduct ensembl:ENSG00000206503
GNRHR2 GeneProduct ensembl:ENSG00000211451
ANKRD34A GeneProduct ensembl:ENSG00000181039
PYM1 GeneProduct ensembl:ENSG00000170473
POLR3GL GeneProduct ensembl:ENSG00000121851
RBM8A GeneProduct ensembl:ENSG00000131795
BCL2L13 GeneProduct ensembl:ENSG00000099968
PEX11B GeneProduct ensembl:ENSG00000131779
LIX1L GeneProduct ensembl:ENSG00000152022
PIAS3 GeneProduct ensembl:ENSG00000131788
NUDT17 GeneProduct ensembl:ENSG00000186364
HLA-E GeneProduct ensembl:ENSG00000204592
HLA-F GeneProduct ensembl:ENSG00000204642
mTORC1 Protein uniprot:F5H479

References

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