Details of Disease

General Information of Disease (ID: DIS2533F)

Disease Name Brachydactyly
Synonyms brachydactyly (disease); brachydactyly
Definition A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms.
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DISYKSRF: Genetic disease
DIS5PU87: Skeletal system disorder
DIS2533F: Brachydactyly
Disease Identifiers
MONDO ID
MONDO_0021004
MESH ID
D059327
UMLS CUI
C0221357
MedGen ID
67454
HPO ID
HP:0001156
SNOMED CT ID
43476002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 13 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HDAC4 TTTQGH8 Limited Biomarker [1]
PTH TT6F7GZ Limited Genetic Variation [2]
FGFR3 TTST7KB Strong Genetic Variation [3]
GDF5 TT37XV9 Strong Biomarker [4]
HOXA13 TTN26OM Strong Genetic Variation [5]
KCNB2 TT5PFNG Strong Genetic Variation [6]
PDE3A TT06AWU Strong Genetic Variation [7]
PDE4D TTSKMI8 Strong Genetic Variation [8]
PRKAR1A TTNAHEX Strong Genetic Variation [9]
PRMT7 TTAR2P0 Strong Genetic Variation [10]
PTH1R TTFPD47 Strong Genetic Variation [11]
RUNX2 TTD6SZ8 Strong Genetic Variation [12]
TWIST1 TTX1MY7 Strong Genetic Variation [13]
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⏷ Show the Full List of 13 DTT(s)
This Disease Is Related to 25 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GNAS OTMH8BKJ Limited Genetic Variation [14]
PHPT1 OTFYWNFX Limited Biomarker [15]
PTHLH OTI1JF13 Limited Genetic Variation [16]
SOX3 OT1CRCOB Limited Biomarker [15]
ACAN OTUOCW8K Strong Genetic Variation [17]
ACSL3 OT3MWER1 Strong Genetic Variation [13]
ADAMTS12 OTG7HEA2 Strong Genetic Variation [18]
B3GLCT OTXH6KOQ Strong Genetic Variation [19]
BMPR1B OTGFN0OD Strong Genetic Variation [20]
CHSY1 OTB1XSSF Strong Biomarker [21]
FBN1 OTYCJT63 Strong Genetic Variation [22]
FRAS1 OTLPESF3 Strong Genetic Variation [23]
GHRH OT94U6MO Strong Biomarker [24]
GPC1 OTQKRSSV Strong Biomarker [25]
HNRNPR OT3FITK2 Strong Biomarker [26]
HOXD13 OTWSC8TF Strong Genetic Variation [27]
IHH OT1DWGXC Strong Biomarker [28]
NOG OTGRHHPG Strong Genetic Variation [29]
PTCH1 OTMG07H5 Strong Genetic Variation [30]
RTTN OT5PB986 Strong Genetic Variation [31]
SACS OTZGXQ8A Strong Genetic Variation [32]
SCAPER OT7S3B3P Strong CausalMutation [33]
SMAD4 OTWQWCKG Strong Biomarker [34]
TBCEL OT2PZLLL Strong Genetic Variation [35]
TRPS1 OT7XPPEL Strong Genetic Variation [2]
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⏷ Show the Full List of 25 DOT(s)

References

1 The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature.Am J Med Genet A. 2015 Jan;167A(1):185-9. doi: 10.1002/ajmg.a.36428. Epub 2014 Nov 17.
2 Severe brachydactyly and short stature resulting from a novel pathogenic TRPS1 variant within the GATA DNA-binding domain.Bone. 2019 Jun;123:153-158. doi: 10.1016/j.bone.2019.03.028. Epub 2019 Mar 23.
3 Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.Am J Med Genet. 1998 May 26;77(4):322-9. doi: 10.1002/(sici)1096-8628(19980526)77:4<322::aid-ajmg14>3.0.co;2-k.
4 A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.PLoS Genet. 2013;9(10):e1003846. doi: 10.1371/journal.pgen.1003846. Epub 2013 Oct 3.
5 The pathophysiology of HOX genes and their role in cancer.J Pathol. 2005 Jan;205(2):154-71. doi: 10.1002/path.1710.
6 A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.Hum Mol Genet. 2010 Mar 1;19(5):848-60. doi: 10.1093/hmg/ddp553. Epub 2009 Dec 16.
7 PDE3A gene screening improves diagnostics for patients with Bilginturan syndrome (hypertension and brachydactyly syndrome).Hypertens Res. 2018 Nov;41(11):981-988. doi: 10.1038/s41440-018-0094-5. Epub 2018 Sep 12.
8 Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3.Hum Mol Genet. 2017 Oct 15;26(20):3883-3894. doi: 10.1093/hmg/ddx271.
9 Novel mutations of the PRKAR1A gene in patients with acrodysostosis.Clin Genet. 2013 Dec;84(6):531-8. doi: 10.1111/cge.12106. Epub 2013 Feb 21.
10 Further delineation of the phenotype caused by loss of function mutations in PRMT7.Eur J Med Genet. 2019 Mar;62(3):182-185. doi: 10.1016/j.ejmg.2018.07.007. Epub 2018 Jul 10.
11 Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH.Am J Med Genet A. 2010 Dec;152A(12):3124-8. doi: 10.1002/ajmg.a.33567.
12 A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.Eur J Hum Genet. 2018 Sep;26(9):1288-1293. doi: 10.1038/s41431-018-0166-7. Epub 2018 Jun 11.
13 Mutations of the TWIST gene in the Saethre-Chotzen syndrome.Nat Genet. 1997 Jan;15(1):42-6. doi: 10.1038/ng0197-42.
14 Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: first Italian series.Bone. 2013 Oct;56(2):276-80. doi: 10.1016/j.bone.2013.06.015. Epub 2013 Jun 21.
15 Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassification.J Pediatr Endocrinol Metab. 2014 Nov;27(11-12):1089-94. doi: 10.1515/jpem-2014-0020.
16 A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum.Chin Med J (Engl). 2019 Jul 20;132(14):1681-1688. doi: 10.1097/CM9.0000000000000327.
17 Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.Clin Endocrinol (Oxf). 2018 Jun;88(6):820-829. doi: 10.1111/cen.13581. Epub 2018 Mar 24.
18 Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B.Am J Med Genet A. 2015 Feb;167A(2):445-9. doi: 10.1002/ajmg.a.36874.
19 ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome.Hum Mol Genet. 2019 Dec 15;28(24):4053-4066. doi: 10.1093/hmg/ddz225.
20 Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility. Eur J Hum Genet. 2018 Jun;26(6):876-885. doi: 10.1038/s41431-018-0121-7. Epub 2018 Mar 26.
21 Chondroitin sulfate synthase 1 (Chsy1) is required for bone development and digit patterning.Dev Biol. 2012 Mar 15;363(2):413-25. doi: 10.1016/j.ydbio.2012.01.005. Epub 2012 Jan 17.
22 FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.Gene. 2016 Oct 10;591(1):279-291. doi: 10.1016/j.gene.2016.07.033. Epub 2016 Jul 18.
23 Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1.Congenit Anom (Kyoto). 2017 May;57(3):83-85. doi: 10.1111/cga.12188.
24 Novel Opportunities for Improving the Quality of Preanalytical Phase. A Glimpse to the Future?.J Med Biochem. 2017 Oct 28;36(4):293-300. doi: 10.1515/jomb-2017-0029. eCollection 2017 Oct.
25 Glypican 1 gene: good candidate for brachydactyly type E.Am J Med Genet. 2002 Apr 1;108(4):310-4. doi: 10.1002/ajmg.10266.
26 HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans. Am J Hum Genet. 2019 Jun 6;104(6):1040-1059. doi: 10.1016/j.ajhg.2019.03.024. Epub 2019 May 9.
27 A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.Am J Med Genet A. 2016 Mar;170(3):615-21. doi: 10.1002/ajmg.a.37464. Epub 2015 Nov 18.
28 Mutations in GDF5 presenting as semidominant brachydactyly A1. Hum Mutat. 2010 Oct;31(10):1155-62. doi: 10.1002/humu.21338.
29 Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance.PLoS One. 2012;7(4):e35062. doi: 10.1371/journal.pone.0035062. Epub 2012 Apr 18.
30 A girl with deletion 9q22.1-q22.32 including the PTCH and ROR2 genes identified by genome-wide array-CGH.Am J Med Genet A. 2007 Aug 15;143A(16):1885-9. doi: 10.1002/ajmg.a.31845.
31 Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42.Hum Mutat. 2019 Jul;40(7):899-903. doi: 10.1002/humu.23755. Epub 2019 May 24.
32 Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.Am J Med Genet A. 2016 Jul;170(7):1820-5. doi: 10.1002/ajmg.a.37684. Epub 2016 May 2.
33 SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. Eur J Hum Genet. 2019 Jun;27(6):928-940. doi: 10.1038/s41431-019-0347-z. Epub 2019 Feb 5.
34 Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet. 2011 Dec 11;44(1):85-8. doi: 10.1038/ng.1016.
35 Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1. Am J Med Genet A. 2004 Aug 30;129A(2):144-8. doi: 10.1002/ajmg.a.30222.