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Disorganization, mouse, homolog of(DS)

MedGen UID:
387773
Concept ID:
C1857230
Finding
Synonym: DS
 
OMIM®: 223200

Clinical features

From HPO
Multiple lipomas
MedGen UID:
677074
Concept ID:
C0745730
Finding
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).
Sacral lipoma
MedGen UID:
867458
Concept ID:
C4021835
Neoplastic Process
Presence of a lipoma in the region of the sacrum.
Hand polydactyly
MedGen UID:
510636
Concept ID:
C0158733
Congenital Abnormality
A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
Limb duplication
MedGen UID:
451015
Concept ID:
C0265551
Congenital Abnormality
Congenital duplication of all or part of a limb.
Abdominal organ duplication
MedGen UID:
870777
Concept ID:
C4025234
Anatomical Abnormality
A congenital malformation characterized by the development of an additional organ or organ-like structure, i.e., an extra copy of the organ normally located in the abdomen.
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Hip dislocation
MedGen UID:
42455
Concept ID:
C0019554
Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Sacral meningocele
MedGen UID:
101069
Concept ID:
C0521556
Congenital Abnormality
A congenital abnormality in the sacral region of the spine in which the meninges protrude through a defect in the spinal column.
Cleft upper lip
MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

Recent clinical studies

Etiology

Liu Y, Deng XH, Zhang X, Cong T, Chen D, Hall AJ, Ying L, Rodeo SA
Am J Sports Med 2022 Feb;50(2):362-370. Epub 2021 Dec 14 doi: 10.1177/03635465211062244. PMID: 34904906
Zhao S, Li Z, Zhang M, Zhang L, Zheng H, Ning J, Wang Y, Wang F, Zhang X, Gan H, Wang Y, Zhang X, Luo H, Bu G, Xu H, Yao Y, Zhang YW
Exp Mol Med 2019 Jul 23;51(7):1-11. doi: 10.1038/s12276-019-0277-4. PMID: 31337748Free PMC Article
Aucagne R, Girard S, Mayotte N, Lehnertz B, Lopes-Paciencia S, Gendron P, Boucher G, Chagraoui J, Sauvageau G
FASEB J 2017 Nov;31(11):5012-5018. Epub 2017 Jul 28 doi: 10.1096/fj.201601219RRR. PMID: 28754713
Shibanuma M, Ishikawa F, Kobayashi M, Katayama K, Miyoshi H, Wakamatsu M, Mori K, Nose K
Cancer Sci 2012 Oct;103(10):1803-10. Epub 2012 Aug 1 doi: 10.1111/j.1349-7006.2012.02369.x. PMID: 22726539Free PMC Article
Guyon JR, Mosley AN, Jun SJ, Montanaro F, Steffen LS, Zhou Y, Nigro V, Zon LI, Kunkel LM
Exp Cell Res 2005 Mar 10;304(1):105-15. Epub 2004 Dec 8 doi: 10.1016/j.yexcr.2004.10.032. PMID: 15707578

Diagnosis

Temtamy SA, Aglan MS, Ashour AM, El-Badry TH
Clin Dysmorphol 2010 Jan;19(1):14-22. doi: 10.1097/MCD.0b013e3283337d92. PMID: 19940763
Pratt T, Conway CD, Tian NM, Price DJ, Mason JO
J Neurosci 2006 Jun 28;26(26):6911-23. doi: 10.1523/JNEUROSCI.0505-06.2006. PMID: 16807321Free PMC Article

Therapy

Aarts M, Sharpe R, Garcia-Murillas I, Gevensleben H, Hurd MS, Shumway SD, Toniatti C, Ashworth A, Turner NC
Cancer Discov 2012 Jun;2(6):524-39. Epub 2012 Apr 23 doi: 10.1158/2159-8290.CD-11-0320. PMID: 22628408

Prognosis

Guyon JR, Mosley AN, Jun SJ, Montanaro F, Steffen LS, Zhou Y, Nigro V, Zon LI, Kunkel LM
Exp Cell Res 2005 Mar 10;304(1):105-15. Epub 2004 Dec 8 doi: 10.1016/j.yexcr.2004.10.032. PMID: 15707578

Clinical prediction guides

Liu Y, Deng XH, Zhang X, Cong T, Chen D, Hall AJ, Ying L, Rodeo SA
Am J Sports Med 2022 Feb;50(2):362-370. Epub 2021 Dec 14 doi: 10.1177/03635465211062244. PMID: 34904906
Zhang W, Li J, Suzuki K, Qu J, Wang P, Zhou J, Liu X, Ren R, Xu X, Ocampo A, Yuan T, Yang J, Li Y, Shi L, Guan D, Pan H, Duan S, Ding Z, Li M, Yi F, Bai R, Wang Y, Chen C, Yang F, Li X, Wang Z, Aizawa E, Goebl A, Soligalla RD, Reddy P, Esteban CR, Tang F, Liu GH, Belmonte JC
Science 2015 Jun 5;348(6239):1160-3. Epub 2015 Apr 30 doi: 10.1126/science.aaa1356. PMID: 25931448Free PMC Article
Hussain MS, Battaglia A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara S, Altmüller J, Thiele H, Nürnberg G, Moosa S, Yigit G, Beleggia F, Tinschert S, Clayton-Smith J, Vasudevan P, Urquhart JE, Donnai D, Fryer A, Percin F, Brancati F, Dobbie A, Smigiel R, Gillessen-Kaesbach G, Wollnik B, Noegel AA, Newman WG, Nürnberg P
Am J Hum Genet 2014 Nov 6;95(5):622-32. doi: 10.1016/j.ajhg.2014.10.008. PMID: 25439729Free PMC Article
Hitt B, Riordan SM, Kukreja L, Eimer WA, Rajapaksha TW, Vassar R
J Biol Chem 2012 Nov 9;287(46):38408-25. Epub 2012 Sep 17 doi: 10.1074/jbc.M112.415505. PMID: 22988240Free PMC Article
Stum M, Girard E, Bangratz M, Bernard V, Herbin M, Vignaud A, Ferry A, Davoine CS, Echaniz-Laguna A, René F, Marcel C, Molgó J, Fontaine B, Krejci E, Nicole S
Hum Mol Genet 2008 Oct 15;17(20):3166-79. Epub 2008 Jul 21 doi: 10.1093/hmg/ddn213. PMID: 18647752

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