Galloway-Mowat Syndrome 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Galloway-Mowat Syndrome 4

MalaCards integrated aliases for Galloway-Mowat Syndrome 4:

Name: Galloway-Mowat Syndrome 4 ⁵⁷ ¹² ⁷⁵ ²⁹ ⁶

Gamos4 ⁵⁷ ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
onset in the first months of life
death within the first years of life
four patients from 3 unrelated consanguineous families have been reported (last curated october 2017)

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 617730

Disease Ontology ¹² DOID:0080246

MedGen ⁴² C4540270 CN570506

MeSH ⁴⁴ D008831 D009404 D009422

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Summaries for Galloway-Mowat Syndrome 4

UniProtKB/Swiss-Prot : ⁷⁵ Galloway-Mowat syndrome 4: 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.

MalaCards based summary : Galloway-Mowat Syndrome 4, is also known as gamos4. An important gene associated with Galloway-Mowat Syndrome 4 is TP53RK (TP53 Regulating Kinase). Affiliated tissues include eye, brain and skin, and related phenotypes are hypertelorism and seizures

OMIM : ⁵⁷ 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, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual 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). (617730)

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Related Diseases for Galloway-Mowat Syndrome 4

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 2

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Symptoms & Phenotypes for Galloway-Mowat Syndrome 4

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
hypertelorism
impaired vision

Head And Neck Head:
microcephaly

Laboratory Abnormalities:
proteinuria

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
poor feeding

Skin Nails Hair Skin:
abnormally pigmented skin macules

Neurologic Central Nervous System:
seizures
spasticity
cerebellar hypoplasia
polymicrogyria
cerebral atrophy
more

Growth Height:
short stature

Genitourinary Kidneys:
nephrotic syndrome
end-stage renal disease
diffuse mesangial sclerosis
focal segmental glomerulosclerosis seen on renal biopsy

Head And Neck Ears:
large ears

Skeletal Hands:
tapered fingers

Clinical features from OMIM:

617730

Human phenotypes related to Galloway-Mowat Syndrome 4:

³² (show all 13)

#	Description	HPO Source Accession
1	hypertelorism ³²	HP:0000316
2	seizures ³²	HP:0001250
3	spasticity ³²	HP:0001257
4	global developmental delay ³²	HP:0001263
5	delayed speech and language development ³²	HP:0000750
6	visual impairment ³²	HP:0000505
7	nephrotic syndrome ³²	HP:0000100
8	cerebellar hypoplasia ³²	HP:0001321
9	polymicrogyria ³²	HP:0002126
10	cerebral atrophy ³²	HP:0002059
11	stage 5 chronic kidney disease ³²	HP:0003774
12	glomerulosclerosis ³²	HP:0000096
13	diffuse mesangial sclerosis ³²	HP:0001967

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Drugs & Therapeutics for Galloway-Mowat Syndrome 4

Search Clinical Trials , NIH Clinical Center for Galloway-Mowat Syndrome 4

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Genetic Tests for Galloway-Mowat Syndrome 4

Genetic tests related to Galloway-Mowat Syndrome 4:

#	Genetic test	Affiliating Genes
1	Galloway-Mowat Syndrome 4 ²⁹	TP53RK

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Anatomical Context for Galloway-Mowat Syndrome 4

MalaCards organs/tissues related to Galloway-Mowat Syndrome 4:

⁴¹

Eye, Brain, Skin, Kidney

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Publications for Galloway-Mowat Syndrome 4

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Genes for Galloway-Mowat Syndrome 4

Genes related to Galloway-Mowat Syndrome 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TP53RK	TP53 Regulating Kinase	Protein Coding	1328.56	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	28805828

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Variations for Galloway-Mowat Syndrome 4

UniProtKB/Swiss-Prot genetic disease variations for Galloway-Mowat Syndrome 4:

⁷⁵

#	Symbol	AA change	Variation ID
1	TP53RK	p.Gly42Asp	VAR_080371
2	TP53RK	p.Thr81Arg	VAR_080372
3	TP53RK	p.Arg243Leu	VAR_080373

ClinVar genetic disease variations for Galloway-Mowat Syndrome 4:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TP53RK	NM_033550.3(TP53RK): c.179delA (p.Lys60Serfs)	deletion	Pathogenic		GRCh37	Chromosome 20, 45317875: 45317875
2	TP53RK	NM_033550.3(TP53RK): c.179delA (p.Lys60Serfs)	deletion	Pathogenic		GRCh38	Chromosome 20, 46689236: 46689236
3	TP53RK	NM_033550.3(TP53RK): c.242C> G (p.Thr81Arg)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 20, 45317812: 45317812
4	TP53RK	NM_033550.3(TP53RK): c.242C> G (p.Thr81Arg)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 20, 46689173: 46689173
5	TP53RK	NM_033550.3(TP53RK): c.125G> A (p.Gly42Asp)	single nucleotide variant	Pathogenic	rs773814837	GRCh38	Chromosome 20, 46689290: 46689290
6	TP53RK	NM_033550.3(TP53RK): c.125G> A (p.Gly42Asp)	single nucleotide variant	Pathogenic	rs773814837	GRCh37	Chromosome 20, 45317929: 45317929
7	TP53RK	NM_033550.3(TP53RK): c.728G> T (p.Arg243Leu)	single nucleotide variant	Pathogenic	rs776588426	GRCh37	Chromosome 20, 45315426: 45315426
8	TP53RK	NM_033550.3(TP53RK): c.728G> T (p.Arg243Leu)	single nucleotide variant	Pathogenic	rs776588426	GRCh38	Chromosome 20, 46686787: 46686787

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Expression for Galloway-Mowat Syndrome 4

Search GEO for disease gene expression data for Galloway-Mowat Syndrome 4.

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Pathways for Galloway-Mowat Syndrome 4

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GO Terms for Galloway-Mowat Syndrome 4

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⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

GAMOS4 MCID: GLL041 MIFTS: 22	Galloway-Mowat Syndrome 4 (GAMOS4) Categories: Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Symptoms & Phenotypes Expand all tables

Galloway-Mowat Syndrome 4 (GAMOS4)

Aliases & Classifications for Galloway-Mowat Syndrome 4

MalaCards integrated aliases for Galloway-Mowat Syndrome 4:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Galloway-Mowat Syndrome 4

Related Diseases for Galloway-Mowat Syndrome 4

Diseases in the Galloway-Mowat Syndrome family:

Symptoms & Phenotypes for Galloway-Mowat Syndrome 4

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Galloway-Mowat Syndrome 4:

Drugs & Therapeutics for Galloway-Mowat Syndrome 4

Genetic Tests for Galloway-Mowat Syndrome 4

Genetic tests related to Galloway-Mowat Syndrome 4:

Anatomical Context for Galloway-Mowat Syndrome 4

MalaCards organs/tissues related to Galloway-Mowat Syndrome 4:

Publications for Galloway-Mowat Syndrome 4

Genes for Galloway-Mowat Syndrome 4

Genes related to Galloway-Mowat Syndrome 4 (1 elite genes):

Variations for Galloway-Mowat Syndrome 4

UniProtKB/Swiss-Prot genetic disease variations for Galloway-Mowat Syndrome 4:

ClinVar genetic disease variations for Galloway-Mowat Syndrome 4:

Expression for Galloway-Mowat Syndrome 4

Pathways for Galloway-Mowat Syndrome 4

GO Terms for Galloway-Mowat Syndrome 4

Sources for Galloway-Mowat Syndrome 4