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Galloway-Mowat syndrome(CAMOS)

MedGen UID:: 167086
•Concept ID:: C0795949
•: Disease or Syndrome

Synonyms:	Galloway syndrome; Microcephaly nephrosis syndrome; Microcephaly, hiatal hernia and nephrotic syndrome; Nephrosis neuronal dysmigration syndrome
SNOMED CT:	Galloway Mowat syndrome (721297008); Galloway syndrome (721297008); Microcephaly, hiatus hernia, nephrotic syndrome (721297008); Nephrosis, neuronal dysmigration syndrome (721297008)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record Autosomal recessive inheritance (Orphanet) X-linked recessive inheritance (Orphanet)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	TP53RK, WDR73, OSGEP, TPRKB, LAGE3

Monarch Initiative:	MONDO:0009627
OMIM®:	251300
OMIM® Phenotypic series:	PS251300
Orphanet:	ORPHA2065

Definition

Galloway-Mowat syndrome is a rare autosomal recessive neurodegenerative disorder characterized by infantile onset of microcephaly and central nervous system abnormalities resulting in severely delayed psychomotor development. Brain imaging shows cerebellar atrophy and sometimes cerebral atrophy. More variable features include optic atrophy, movement disorders, seizures, and nephrotic syndrome (summary by Vodopiutz et al., 2015). Genetic Heterogeneity of Galloway-Mowat Syndrome See also GAMOS2 (301006), caused by mutation in the LAGE3 gene (300060) on chromosome Xq28; GAMOS3 (617729), caused by mutation in the OSGEP gene (610107) on chromosome 14q11; GAMOS4 (617730), caused by mutation in the TP53RK gene (608679) on chromosome 20q13; GAMOS5 (617731), caused by mutation in the TPRKB gene (608680) on chromosome 2p13; GAMOS6 (618347), caused by mutation in the WDR4 gene (605924) on chromosome 21q22; GAMOS7 (618348), caused by mutation in the NUP107 gene (607617) on chromosome 12q15; GAMOS8 (618349), caused by mutation in the NUP133 gene (607613) on chromosome 1q42; GAMOS9 (619603), caused by mutation in the GON7 gene (617436) on chromosome 14q32; and GAMOS10 (619609), caused by mutation in the YRDC gene (612276) on chromosome 1p34. [from OMIM]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVGalloway-Mowat syndrome

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Galloway-Mowat syndrome

Follow this link to review classifications for Galloway-Mowat syndrome in Orphanet.

Professional guidelines

PubMed

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

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 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 KJ, 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
Nat Genet 2017 Oct;49(10):1529-1538. Epub 2017 Aug 14 doi: 10.1038/ng.3933. PMID: 28805828 Free PMC Article

A stepwise approach to the treatment of early onset nephrotic syndrome.

Licht C, Eifinger F, Gharib M, Offner G, Michalk DV, Querfeld U
Pediatr Nephrol 2000 Oct;14(12):1077-82. doi: 10.1007/s004670000386. PMID: 11045390

See all (2)

Recent clinical studies

Etiology

Diagnosis delay a family of Galloway-Mowat Syndrome caused by a classical splicing mutation of Lage3.

Chen Y, Yang Y, Yang Y, Rao J, Bai H
BMC Nephrol 2023 Feb 8;24(1):29. doi: 10.1186/s12882-022-03000-5. PMID: 36755238 Free PMC Article

Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype.

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: 30558655 Free PMC Article

Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.

Al-Rakan MA, Abothnain MD, Alrifai MT, Alfadhel M
BMC Ophthalmol 2018 Jun 22;18(1):147. doi: 10.1186/s12886-018-0820-4. PMID: 29929488 Free PMC Article

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.

Rosti RO, Dikoglu E, Zaki MS, Abdel-Salam G, Makhseed N, Sese JC, Musaev D, Rosti B, Harbert MJ, Jones MC, Vaux KK, Gleeson JG
Am J Med Genet A 2016 Apr;170A(4):992-8. Epub 2016 Jan 5 doi: 10.1002/ajmg.a.37533. PMID: 27001912 Free PMC Article

Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome.

Dietrich A, Matejas V, Bitzan M, Hashmi S, Kiraly-Borri C, Lin SP, Mildenberger E, Hoppe B, Palm L, Shiihara T, Steiss JO, Tsai JD, Vester U, Weber S, Wühl E, Zepf K, Zenker M
Pediatr Nephrol 2008 Oct;23(10):1779-86. Epub 2008 Jul 2 doi: 10.1007/s00467-008-0880-4. PMID: 18594871

See all (9)

Diagnosis

Diagnosis delay a family of Galloway-Mowat Syndrome caused by a classical splicing mutation of Lage3.

Chen Y, Yang Y, Yang Y, Rao J, Bai H
BMC Nephrol 2023 Feb 8;24(1):29. doi: 10.1186/s12882-022-03000-5. PMID: 36755238 Free PMC Article

Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype.

Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.

Al-Rakan MA, Abothnain MD, Alrifai MT, Alfadhel M
BMC Ophthalmol 2018 Jun 22;18(1):147. doi: 10.1186/s12886-018-0820-4. PMID: 29929488 Free PMC Article

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.

Galloway-Mowat syndrome: prenatal ultrasound and perinatal magnetic resonance imaging findings.

Chen CP, Lin SP, Liu YP, Tsai JD, Chen CY, Shih SL, Tsai FJ, Wu PC, Wang W
Taiwan J Obstet Gynecol 2011 Jun;50(2):212-6. doi: 10.1016/j.tjog.2011.04.005. PMID: 21791310

See all (26)

Therapy

Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.

Fujita A, Tsukaguchi H, Koshimizu E, Nakazato H, Itoh K, Kuraoka S, Komohara Y, Shiina M, Nakamura S, Kitajima M, Tsurusaki Y, Miyatake S, Ogata K, Iijima K, Matsumoto N, Miyake N
Ann Neurol 2018 Dec;84(6):814-828. doi: 10.1002/ana.25370. PMID: 30427554

Galloway-mowat syndrome - unusual form of nephrotic syndrome in adolescent.

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

A stepwise approach to the treatment of early onset nephrotic syndrome.

Licht C, Eifinger F, Gharib M, Offner G, Michalk DV, Querfeld U
Pediatr Nephrol 2000 Oct;14(12):1077-82. doi: 10.1007/s004670000386. PMID: 11045390

See all (3)

Prognosis

Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.

Mann N, Mzoughi S, Schneider R, Kühl SJ, Schanze D, Klämbt V, Lovric S, Mao Y, Shi S, Tan W, Kühl M, Onuchic-Whitford AC, Treimer E, Kitzler TM, Kause F, Schumann S, Nakayama M, Buerger F, Shril S, van der Ven AT, Majmundar AJ, Holton KM, Kolb A, Braun DA, Rao J, Jobst-Schwan T, Mildenberger E, Lennert T, Kuechler A, Wieczorek D, Gross O, Ermisch-Omran B, Werberger A, Skalej M, Janecke AR, Soliman NA, Mane SM, Lifton RP, Kadlec J, Guccione E, Schmeisser MJ, Zenker M, Hildebrandt F
J Am Soc Nephrol 2021 Mar;32(3):580-596. Epub 2021 Feb 16 doi: 10.1681/ASN.2020040490. PMID: 33593823 Free PMC Article

Novel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.

Domingo-Gallego A, Furlano M, Pybus M, Barraca D, Martínez AB, Mora Muñoz E, Torra R, Ars E
BMC Nephrol 2019 Apr 11;20(1):126. doi: 10.1186/s12882-019-1317-y. PMID: 30975089 Free PMC Article

Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.

Al-Rakan MA, Abothnain MD, Alrifai MT, Alfadhel M
BMC Ophthalmol 2018 Jun 22;18(1):147. doi: 10.1186/s12886-018-0820-4. PMID: 29929488 Free PMC Article

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.

Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy.

Cooperstone BG, Friedman A, Kaplan BS
Am J Med Genet 1993 Aug 15;47(2):250-4. doi: 10.1002/ajmg.1320470221. PMID: 8213914

See all (17)

Clinical prediction guides

Galloway-Mowat syndrome: New insights from bioinformatics and expression during Xenopus embryogenesis.

Treimer E, Niedermayer K, Schumann S, Zenker M, Schmeisser MJ, Kühl SJ
Gene Expr Patterns 2021 Dec;42:119215. Epub 2021 Oct 4 doi: 10.1016/j.gep.2021.119215. PMID: 34619372

Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.

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: 30079490 Free PMC Article

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.

Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome.

Zenker M, Tralau T, Lennert T, Pitz S, Mark K, Madlon H, Dötsch J, Reis A, Müntefering H, Neumann LM
Am J Med Genet A 2004 Oct 1;130A(2):138-45. doi: 10.1002/ajmg.a.30310. PMID: 15372515

Galloway-Mowat syndrome: a glomerular basement membrane disorder?

Lin CC, Tsai JD, Lin SP, Tzen CY, Shen EY, Shih CS
Pediatr Nephrol 2001 Aug;16(8):653-7. doi: 10.1007/s004670100628. PMID: 11519896

See all (7)

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Galloway-Mowat syndrome(CAMOS)

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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