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S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga K, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van
Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F (2017) Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet
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one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. Multiple genes (10 genes as of
October 2020) are causal for the clinical symptoms of Galloway–Mowat syndrome. There is one gene, LAGE3, associated with X-linked inheritance of Galloway–Mowat syndrome.
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Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer
421:
Arrondel C, Missoury S, Snoek R, Patat J, Menara G, Collinet B, Liger D, Durand D, Gribouval O, Boyer O, Buscara L, Martin G, Machuca E, Nevo F, Lescop E, Braun DA, Boschat AC, Sanquer S, Guerrera IC, Revy P, Parisot M, Masson C, Boddaert N, Charbit M, Decramer S, Novo R, Macher MA, Ranchin B,
422:
Bacchetta J, Laurent A, Collardeau-Frachon S, van Eerde AM, Hildebrandt F, Magen D, Antignac C, van
Tilbeurgh H, Mollet G (2019) Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome. Nat Commun 10(1):3967
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Galloway
Syndrome, Hiatal Hernia–Microcephaly–Nephrosis, Galloway Type, Microcephaly–Hiatal Hernia–Nephrosis, Galloway Type, Nephrosis–Microcephaly Syndrome, Nephrosis–Neuronal Dysmigration Syndrome, Microcephaly–Hiatal Hernia–Nephrotic
167:, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both
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The biochemical lesion appears to be in the Kinase, Endopeptidase and Other
Proteins of small Size (KEOPS)/Endopeptidase-like and Kinase associated to transcribed Chromatin (EKC) (
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complex. Members of this complex are found in bacteria, archaea and eukaryotes and are highly conserved. The function of this complex is still under investigation.
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Srivastava T, Whiting JM, Garola RE, Dasouki MJ, Ruotsalainen V, Tryggvason K, Hamed R, Alon US (Dec 2001). "Podocyte proteins in
Galloway-Mowat syndrome".
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Galloway–Mowat syndrome is usually an autosomal recessive disorder, which means the defective gene responsible for the disorder is located on an
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in
Galloway–Mowat syndrome, but these are likely secondary to the proteinuria, likely not the proteins mutated in Galloway-Mowat syndrome.
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The exact genetic defect in
Galloway–Mowat syndrome is yet to be discovered. However, mutations in
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The biochemical lesion in this condition appears to be in the N6-threonyl-carbamoylation of
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37 of ANN-type tRNA pathway. This pathway uses two sequentially acting enzymes -
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genetic disorder, consisting of a variety of features including
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Galloway–Mowat syndrome has an autosomal recessive pattern of
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155:. Mutations in these genes leads to this syndrome.
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529:Microcephaly, hiatal hernia and nephrotic syndrome
270:Cooperstone BG, Friedman A, Kaplan BS (Aug 1993).
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136:genes all of which encode subunits in the
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577:Genetic disorders with OMIM but no gene
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371:Pediatric Nephrology (Berlin, Germany)
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279:American Journal of Medical Genetics
312:Galloway WH, Mowat AP (Dec 1968).
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582:Syndromes affecting the kidneys
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552:Autosomal recessive disorders
557:Syndromes with microcephaly
318:Journal of Medical Genetics
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291:10.1002/ajmg.1320470221
56:Galloway–Mowat syndrome
22:Galloway–Mowat syndrome
572:Neurological disorders
562:Rare genetic syndromes
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27:Other names
546:Categories
486:DiseasesDB
254:References
338:0022-2593
242:July 2017
215:Treatment
203:July 2017
176:Diagnosis
145:adenosine
118:KEOPS/EKC
63:recessive
60:autosomal
510:Orphanet
399:23690258
391:11793093
165:autosome
159:Genetics
87:podocyte
31:Syndrome
480:C537548
459:: Q04.3
356:5713646
347:1468664
299:8213914
111:nephrin
99:podocin
91:nephrin
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126:TP53RK
109:, and
107:GLEPP1
97:, and
491:31334
395:S2CID
169:carry
153:OSGEP
138:KEOPS
134:LAGE3
130:TPRKB
122:OSGEP
81:Cause
515:2065
475:MeSH
464:OMIM
387:PMID
352:PMID
334:ISSN
295:PMID
151:and
149:YRDC
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