Details of Disease | DrugMAP

General Information of Disease (ID: DISVB7IM)

Disease Name	Galloway-Mowat syndrome
Synonyms	microcephaly nephrosis syndrome; hiatal hernia-microcephaly-nephrosis, Galloway type; cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities; GAMOS; nephrosis neuronal dysmigration syndrome; microcephaly, hiatal hernia, and nephrotic syndrome; cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities; Galloway Mowat syndrome; spinocerebellar ataxia, autosomal recessive 5, formerly; Galloway-Mowat syndrome; nephrosis-neuronal dysmigration syndrome; nephrosis-microcephaly syndrome; microcephaly, hiatal hernia and nephrotic syndrome; microcephaly-hiatus hernia-nephrotic syndrome; spinocerebellar ataxia, autosomal recessive 5; Galloway syndrome
Definition	Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISCPWH9: Autosomal recessive disease DISVB7IM: Galloway-Mowat syndrome
Disease Identifiers	MONDO ID MONDO_0009627 MESH ID C537548 UMLS CUI C0795949 MedGen ID 167086 Orphanet ID 2065 SNOMED CT ID 721297008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
WDR4	OTTRUZUH	Supportive	Autosomal recessive	[1]
WDR73	OT2MKQ5Z	Supportive	Autosomal recessive	[2]
LAGE3	OTKBQHZI	Supportive	Autosomal recessive	[3]
NUP107	OTG4RDYS	Supportive	Autosomal recessive	[4]
NUP133	OTC294HE	Supportive	Autosomal recessive	[5]
OSGEP	OT38HX9V	Supportive	Autosomal recessive	[3]
TP53RK	OTARRZAB	Supportive	Autosomal recessive	[3]
TPRKB	OTV4QEVT	Supportive	Autosomal recessive	[3]
GON7	OT36YA7Q	Strong	Genetic Variation	[6]
LAMB2	OT71OI2Y	Strong	Biomarker	[7]
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⏷ Show the Full List of 10 DOT(s)

References

1	Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. Am J Med Genet A. 2018 Nov;176(11):2460-2465. doi: 10.1002/ajmg.a.40489. Epub 2018 Aug 6.
2	Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. Am J Hum Genet. 2014 Dec 4;95(6):637-48. doi: 10.1016/j.ajhg.2014.10.011. Epub 2014 Nov 13.
3	Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14.
4	Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. J Med Genet. 2017 Jun;54(6):399-403. doi: 10.1136/jmedgenet-2016-104237. Epub 2017 Mar 9.
5	Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. Ann Neurol. 2018 Dec;84(6):814-828. doi: 10.1002/ana.25370.
6	Defects in t(6)A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome. Nat Commun. 2019 Sep 3;10(1):3967. doi: 10.1038/s41467-019-11951-x.
7	Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome.Pediatr Nephrol. 2008 Oct;23(10):1779-86. doi: 10.1007/s00467-008-0880-4. Epub 2008 Jul 2.