GAMOS4
MCID: GLL041
MIFTS: 24

Galloway-Mowat Syndrome 4 (GAMOS4)

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

Aliases & Classifications for Galloway-Mowat Syndrome 4

MalaCards integrated aliases for Galloway-Mowat Syndrome 4:

Name: Galloway-Mowat Syndrome 4 57 12 72 29 6
Gamos4 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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)


HPO:

31
galloway-mowat syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Galloway-Mowat Syndrome 4

UniProtKB/Swiss-Prot : 72 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 and kidney, and related phenotypes are spasticity and global developmental delay

Disease Ontology : 12 A Galloway-Mowat syndrome that has material basis in homozygous or compound heterozygous mutation in the TP53RK gene on chromosome 20q13.

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) (Updated 20-May-2021)

Related Diseases for Galloway-Mowat Syndrome 4

Symptoms & Phenotypes for Galloway-Mowat Syndrome 4

Human phenotypes related to Galloway-Mowat Syndrome 4:

31 (showing 20, show less)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 global developmental delay 31 HP:0001263
3 hypertelorism 31 HP:0000316
4 macrotia 31 HP:0000400
5 delayed speech and language development 31 HP:0000750
6 microcephaly 31 HP:0000252
7 visual impairment 31 HP:0000505
8 short stature 31 HP:0004322
9 proteinuria 31 HP:0000093
10 nephrotic syndrome 31 HP:0000100
11 polymicrogyria 31 HP:0002126
12 cerebellar hypoplasia 31 HP:0001321
13 tapered finger 31 HP:0001182
14 feeding difficulties 31 HP:0011968
15 cerebral atrophy 31 HP:0002059
16 generalized hypotonia 31 HP:0001290
17 stage 5 chronic kidney disease 31 HP:0003774
18 seizure 31 HP:0001250
19 diffuse mesangial sclerosis 31 HP:0001967
20 glomerular sclerosis 31 HP:0000096

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
spasticity
polymicrogyria
cerebellar hypoplasia
cerebral atrophy
more
Head And Neck Head:
microcephaly

Laboratory Abnormalities:
proteinuria

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
poor feeding

Skin Nails Hair Skin:
abnormally pigmented skin macules

Head And Neck Eyes:
hypertelorism
impaired vision

Growth Height:
short stature

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

Head And Neck Ears:
large ears

Skeletal Hands:
tapered fingers

Clinical features from OMIM®:

617730 (Updated 20-May-2021)

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

Genetic tests related to Galloway-Mowat Syndrome 4:

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

Anatomical Context for Galloway-Mowat Syndrome 4

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

40
Eye, Kidney

Publications for Galloway-Mowat Syndrome 4

Articles related to Galloway-Mowat Syndrome 4:

(showing 1, show less)
# Title Authors PMID Year
1
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. 6 57
28805828 2017

Variations for Galloway-Mowat Syndrome 4

ClinVar genetic disease variations for Galloway-Mowat Syndrome 4:

6 (showing 8, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TP53RK NM_033550.4(TP53RK):c.125G>A (p.Gly42Asp) SNV Pathogenic 444882 rs773814837 GRCh37: 20:45317929-45317929
GRCh38: 20:46689290-46689290
2 TP53RK NM_033550.4(TP53RK):c.179del (p.Lys60fs) Deletion Pathogenic 444880 rs1431526147 GRCh37: 20:45317875-45317875
GRCh38: 20:46689236-46689236
3 TP53RK NM_033550.4(TP53RK):c.728G>T (p.Arg243Leu) SNV Pathogenic 444883 rs776588426 GRCh37: 20:45315426-45315426
GRCh38: 20:46686787-46686787
4 TP53RK NM_033550.4(TP53RK):c.242C>G (p.Thr81Arg) SNV Pathogenic 444881 rs1432218739 GRCh37: 20:45317812-45317812
GRCh38: 20:46689173-46689173
5 TP53RK NM_033550.4(TP53RK):c.521del (p.Leu174fs) Deletion Pathogenic 1032342 GRCh37: 20:45315633-45315633
GRCh38: 20:46686994-46686994
6 TP53RK NM_033550.4(TP53RK):c.544A>G (p.Ile182Val) SNV Uncertain significance 1032343 GRCh37: 20:45315610-45315610
GRCh38: 20:46686971-46686971
7 TP53RK NM_033550.4(TP53RK):c.598C>G (p.Leu200Val) SNV Uncertain significance 1029039 GRCh37: 20:45315556-45315556
GRCh38: 20:46686917-46686917
8 TP53RK NM_033550.4(TP53RK):c.337A>G (p.Met113Val) SNV Uncertain significance 1032341 GRCh37: 20:45315817-45315817
GRCh38: 20:46687178-46687178

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

72 (showing 3, show less)
# Symbol AA change Variation ID SNP ID
1 TP53RK p.Gly42Asp VAR_080371 rs773814837
2 TP53RK p.Thr81Arg VAR_080372 rs143221873
3 TP53RK p.Arg243Leu VAR_080373 rs776588426

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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