MCID: GLL041
MIFTS: 18

Galloway-Mowat Syndrome 4

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases, Nephrological diseases, Fetal diseases

Aliases & Classifications for Galloway-Mowat Syndrome 4

MalaCards integrated aliases for Galloway-Mowat Syndrome 4:

Name: Galloway-Mowat Syndrome 4 57 12 75 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:



External Ids:

OMIM 57 617730
Disease Ontology 12 DOID:0080246

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.

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)

Related Diseases for Galloway-Mowat Syndrome 4

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

Drugs & Therapeutics for Galloway-Mowat Syndrome 4

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

Genetic Tests for Galloway-Mowat Syndrome 4

Anatomical Context for Galloway-Mowat Syndrome 4

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

41
Eye, Brain, Skin

Publications for Galloway-Mowat Syndrome 4

Variations for Galloway-Mowat Syndrome 4

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

75
# Symbol AA change Variation ID SNP 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

Expression for Galloway-Mowat Syndrome 4

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

Pathways for Galloway-Mowat Syndrome 4

GO Terms for Galloway-Mowat Syndrome 4

Sources for Galloway-Mowat Syndrome 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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