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Galloway-Mowat syndrome 5(GAMOS5)

MedGen UID:
1617227
Concept ID:
C4540274
Disease or Syndrome
Synonyms: GALLOWAY-MOWAT SYNDROME 5; GAMOS5
 
TPRKB (2p13.1)
 
Monarch Initiative: MONDO:0033009
OMIM®: 617731

Definition

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism and ear abnormalities. Other features, such as arachnodactyly and visual or hearing impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300). [from OMIM]

Clinical features

From HPO

Recent clinical studies

Etiology

Lin PY, Tseng MH, Zenker M, Rao J, Hildebrandt F, Lin SH, Lin CC, Chang JH, Hsu CH, Lee MD, Lin SP, Tsai JD
Orphanet J Rare Dis 2018 Dec 17;13(1):226. doi: 10.1186/s13023-018-0961-9. PMID: 30558655Free PMC Article
Lam WW, Wang ZJ, Zhao H, Berry GT, Kaplan P, Gibson J, Kaplan BS, Bilaniuk LT, Hunter JV, Haselgrove JC, Zimmermann RA
Neuroradiology 1998 May;40(5):315-23. doi: 10.1007/s002340050592. PMID: 9638674

Diagnosis

Lin PY, Tseng MH, Zenker M, Rao J, Hildebrandt F, Lin SH, Lin CC, Chang JH, Hsu CH, Lee MD, Lin SP, Tsai JD
Orphanet J Rare Dis 2018 Dec 17;13(1):226. doi: 10.1186/s13023-018-0961-9. PMID: 30558655Free PMC Article
Naidu GD, Deepthi P, RajaKarthik K, Sriram S, Swarnalatha G, Gangadhar T
Saudi J Kidney Dis Transpl 2017 Sep-Oct;28(5):1188-1191. doi: 10.4103/1319-2442.215154. PMID: 28937085
Lam WW, Wang ZJ, Zhao H, Berry GT, Kaplan P, Gibson J, Kaplan BS, Bilaniuk LT, Hunter JV, Haselgrove JC, Zimmermann RA
Neuroradiology 1998 May;40(5):315-23. doi: 10.1007/s002340050592. PMID: 9638674
Hou JW, Wang TR
Am J Med Genet 1995 Sep 11;58(3):245-8. doi: 10.1002/ajmg.1320580310. PMID: 8533826
Cooperstone BG, Friedman A, Kaplan BS
Am J Med Genet 1993 Aug 15;47(2):250-4. doi: 10.1002/ajmg.1320470221. PMID: 8213914

Therapy

Naidu GD, Deepthi P, RajaKarthik K, Sriram S, Swarnalatha G, Gangadhar T
Saudi J Kidney Dis Transpl 2017 Sep-Oct;28(5):1188-1191. doi: 10.4103/1319-2442.215154. PMID: 28937085

Prognosis

Steiss JO, Gross S, Neubauer BA, Hahn A
Neuropediatrics 2005 Oct;36(5):332-5. doi: 10.1055/s-2005-872842. PMID: 16217710
Cooperstone BG, Friedman A, Kaplan BS
Am J Med Genet 1993 Aug 15;47(2):250-4. doi: 10.1002/ajmg.1320470221. PMID: 8213914

Clinical prediction guides

Braun DA, Shril S, Sinha A, Schneider R, Tan W, Ashraf S, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Daga A, Warejko JK, Nakayama M, Schapiro D, Chen J, Airik M, Rao J, Schmidt JM, Hoogstraten CA, Hugo H, Meena J, Lek M, Laricchia KM, Bagga A, Hildebrandt F
Am J Med Genet A 2018 Nov;176(11):2460-2465. Epub 2018 Aug 6 doi: 10.1002/ajmg.a.40489. PMID: 30079490Free PMC Article

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