Galloway-Mowat Syndrome 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

GAMOS7 MCID: GLL046 MIFTS: 25	Galloway-Mowat Syndrome 7 (GAMOS7) Categories: Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Galloway-Mowat Syndrome 7

MalaCards integrated aliases for Galloway-Mowat Syndrome 7:

Name: Galloway-Mowat Syndrome 7 ⁵⁶ ⁷³ ²⁹ ⁶

Gamos7 ⁵⁶ ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
not responsive to steroid treatment
onset of renal disease in first decade
most patients require renal transplantation
no recurrence of nephrotic syndrome after transplantation

HPO:

³¹

galloway-mowat syndrome 7:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Nephrological diseases Eye diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618348

OMIM Phenotypic Series ⁵⁶ PS251300

MeSH ⁴³ D008831 D009404 D009422

MedGen ⁴¹ C5193044 CN258243

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Summaries for Galloway-Mowat Syndrome 7

UniProtKB/Swiss-Prot : ⁷³ Galloway-Mowat syndrome 7: A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS7 inheritance is autosomal recessive.

MalaCards based summary : Galloway-Mowat Syndrome 7, is also known as gamos7. An important gene associated with Galloway-Mowat Syndrome 7 is NUP107 (Nucleoporin 107). Affiliated tissues include eye, brain and kidney, and related phenotypes are abnormal facial shape and short stature

OMIM : ⁵⁶ Galloway-Mowat syndrome-7 (GAMOS7) is an autosomal recessive disorder characterized by developmental delay, microcephaly, and early-onset nephrotic syndrome (summary by Rosti et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300). (618348)

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Related Diseases for Galloway-Mowat Syndrome 7

Diseases in the Galloway-Mowat Syndrome family:

Galloway-Mowat Syndrome 1	Galloway-Mowat Syndrome 3
Galloway-Mowat Syndrome 4	Galloway-Mowat Syndrome 5
Galloway-Mowat Syndrome 6	Galloway-Mowat Syndrome 7
Galloway-Mowat Syndrome 8	Galloway-Mowat Syndrome 2

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Symptoms & Phenotypes for Galloway-Mowat Syndrome 7

Human phenotypes related to Galloway-Mowat Syndrome 7:

³¹ (show all 31)

#	Description	HPO Frequency	HPO Source Accession
1	abnormal facial shape ³¹	very rare (1%)	HP:0001999
2	short stature ³¹	very rare (1%)	HP:0004322
3	dilated cardiomyopathy ³¹	very rare (1%)	HP:0001644
4	ventricular septal defect ³¹	very rare (1%)	HP:0001629
5	iga deposition in the glomerulus ³¹	very rare (1%)	HP:0000794
6	global developmental delay ³¹		HP:0001263
7	delayed speech and language development ³¹		HP:0000750
8	microcephaly ³¹		HP:0000252
9	smooth philtrum ³¹		HP:0000319
10	proteinuria ³¹		HP:0000093
11	edema ³¹		HP:0000969
12	cleft palate ³¹		HP:0000175
13	cubitus valgus ³¹		HP:0002967
14	high palate ³¹		HP:0000218
15	micrognathia ³¹		HP:0000347
16	pectus excavatum ³¹		HP:0000767
17	kyphoscoliosis ³¹		HP:0002751
18	nephrotic syndrome ³¹		HP:0000100
19	arachnodactyly ³¹		HP:0001166
20	hypercholesterolemia ³¹		HP:0003124
21	hallux valgus ³¹		HP:0001822
22	partial duplication of thumb phalanx ³¹		HP:0009944
23	sloping forehead ³¹		HP:0000340
24	clinodactyly ³¹		HP:0030084
25	stage 5 chronic kidney disease ³¹		HP:0003774
26	narrow forehead ³¹		HP:0000341
27	renal tubular atrophy ³¹		HP:0000092
28	focal segmental glomerulosclerosis ³¹		HP:0000097
29	cleft lip ³¹		HP:0410030
30	diffuse mesangial sclerosis ³¹		HP:0001967
31	minimal change glomerulonephritis ³¹		HP:0012579

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Face:
smooth philtrum
micrognathia
sloping forehead
bitemporal narrowing
dysmorphic facial features (in some patients)

Muscle Soft Tissue:
edema

Skeletal Limbs:
cubitus valgus

Skeletal Spine:
kyphoscoliosis

Skeletal Hands:
arachnodactyly
clinodactyly
bifid thumb

Neurologic Central Nervous System:
developmental delay
speech delay
learning disabilities
impaired intellectual development (in some patients)

Growth Other:
poor overall growth

Skeletal:
skeletal anomalies (in some patients)

Laboratory Abnormalities:
proteinuria
hypercholesterolemia
decreased serum albumin

Head And Neck Mouth:
cleft palate
cleft lip
high-arched palate

Chest External Features:
pectus excavatum

Genitourinary Kidneys:
nephrotic syndrome
focal segmental glomerulosclerosis
diffuse mesangial sclerosis
interstitial fibrosis
end-stage renal disease
more

Skeletal Feet:
hallux valgus

Growth Height:
short stature (in some patients)

Cardiovascular Heart:
ventricular septal defect (1 patient)
dilated cardiomyopathy (1 patient)

Head And Neck Head:
microcephaly (-5 to -8 sd)

Clinical features from OMIM:

618348

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Drugs & Therapeutics for Galloway-Mowat Syndrome 7

Search Clinical Trials , NIH Clinical Center for Galloway-Mowat Syndrome 7

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Genetic Tests for Galloway-Mowat Syndrome 7

Genetic tests related to Galloway-Mowat Syndrome 7:

#	Genetic test	Affiliating Genes
1	Galloway-Mowat Syndrome 7 ²⁹

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Anatomical Context for Galloway-Mowat Syndrome 7

MalaCards organs/tissues related to Galloway-Mowat Syndrome 7:

⁴⁰

Eye, Brain, Kidney

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Publications for Galloway-Mowat Syndrome 7

Articles related to Galloway-Mowat Syndrome 7:

#	Title	Authors	PMID	Year
1	Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. ⁶ ⁵⁶	Braun DA...Hildebrandt F	30179222	2018
2	Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. ⁵⁶ ⁶	Rosti RO...Gleeson JG	28280135	2017
3	Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. ⁶ ⁵⁶	Bierzynska A...Saleem MA	28117080	2017
4	Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. ⁵⁶ ⁶	Alazami AM...Alkuraya FS	25558065	2015

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Genes for Galloway-Mowat Syndrome 7

Genes related to Galloway-Mowat Syndrome 7 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NUP107	Nucleoporin 107	Protein Coding	1217.85	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ GeneCards inferred via : Disorders Variants (show sections)	28280135 30179222 28117080 (more) 25558065

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Variations for Galloway-Mowat Syndrome 7

ClinVar genetic disease variations for Galloway-Mowat Syndrome 7:

⁶ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	NUP107	NM_020401.4(NUP107):c.1325G>A (p.Cys442Tyr)	SNV	Pathogenic	619945	rs745342141	12:69115634-69115634	12:68721854-68721854
2	NUP107	NM_020401.4(NUP107):c.303G>A (p.Met101Ile)	SNV	Pathogenic	183304	rs730882216	12:69084526-69084526	12:68690746-68690746

UniProtKB/Swiss-Prot genetic disease variations for Galloway-Mowat Syndrome 7:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	NUP107	p.Met101Ile	VAR_081356	rs730882216

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Expression for Galloway-Mowat Syndrome 7

Search GEO for disease gene expression data for Galloway-Mowat Syndrome 7.

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Pathways for Galloway-Mowat Syndrome 7

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GO Terms for Galloway-Mowat Syndrome 7

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Sources for Galloway-Mowat Syndrome 7

¹ BioSystems

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⁴⁰ MalaCards

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⁶⁷ SNOMED-CT

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⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Galloway-Mowat Syndrome 7 (GAMOS7)

Aliases & Classifications for Galloway-Mowat Syndrome 7

MalaCards integrated aliases for Galloway-Mowat Syndrome 7:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Galloway-Mowat Syndrome 7

Related Diseases for Galloway-Mowat Syndrome 7

Diseases in the Galloway-Mowat Syndrome family:

Symptoms & Phenotypes for Galloway-Mowat Syndrome 7

Human phenotypes related to Galloway-Mowat Syndrome 7:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Galloway-Mowat Syndrome 7

Genetic Tests for Galloway-Mowat Syndrome 7

Genetic tests related to Galloway-Mowat Syndrome 7:

Anatomical Context for Galloway-Mowat Syndrome 7

MalaCards organs/tissues related to Galloway-Mowat Syndrome 7:

Publications for Galloway-Mowat Syndrome 7

Articles related to Galloway-Mowat Syndrome 7:

Genes for Galloway-Mowat Syndrome 7

Genes related to Galloway-Mowat Syndrome 7 (1 elite genes):

Variations for Galloway-Mowat Syndrome 7

ClinVar genetic disease variations for Galloway-Mowat Syndrome 7:

UniProtKB/Swiss-Prot genetic disease variations for Galloway-Mowat Syndrome 7:

Expression for Galloway-Mowat Syndrome 7

Pathways for Galloway-Mowat Syndrome 7

GO Terms for Galloway-Mowat Syndrome 7

Sources for Galloway-Mowat Syndrome 7