GAMOS5
MCID: GLL042
MIFTS: 26

Galloway-Mowat Syndrome 5 (GAMOS5)

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

Aliases & Classifications for Galloway-Mowat Syndrome 5

MalaCards integrated aliases for Galloway-Mowat Syndrome 5:

Name: Galloway-Mowat Syndrome 5 57 12 72 29 6 15
Gamos5 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in the first months or years of life
death may occur in early childhood
two unrelated patients from consanguineous families have been reported (last curated october 2017)


HPO:

31
galloway-mowat syndrome 5:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Galloway-Mowat Syndrome 5

UniProtKB/Swiss-Prot : 72 Galloway-Mowat syndrome 5: 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 5, is also known as gamos5. An important gene associated with Galloway-Mowat Syndrome 5 is TPRKB (TP53RK Binding Protein). Affiliated tissues include eye, brain and kidney, and related phenotypes are stage 5 chronic kidney disease and spasticity

Disease Ontology : 12 A Galloway-Mowat syndrome that has material basis in homozygous mutation in the TPRKB gene on chromosome 2p13.

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 and ear abnormalities. Other features, such as arachnodactyly and visual or hearing 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). (617731) (Updated 20-May-2021)

Related Diseases for Galloway-Mowat Syndrome 5

Symptoms & Phenotypes for Galloway-Mowat Syndrome 5

Human phenotypes related to Galloway-Mowat Syndrome 5:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 stage 5 chronic kidney disease 31 very rare (1%) HP:0003774
2 spasticity 31 HP:0001257
3 ataxia 31 HP:0001251
4 hearing impairment 31 HP:0000365
5 global developmental delay 31 HP:0001263
6 hypertelorism 31 HP:0000316
7 mandibular prognathia 31 HP:0000303
8 abnormal facial shape 31 HP:0001999
9 microcephaly 31 HP:0000252
10 proteinuria 31 HP:0000093
11 epicanthus 31 HP:0000286
12 nephrotic syndrome 31 HP:0000100
13 deeply set eye 31 HP:0000490
14 ventriculomegaly 31 HP:0002119
15 pachygyria 31 HP:0001302
16 edema 31 HP:0000969
17 brain atrophy 31 HP:0012444
18 peripheral demyelination 31 HP:0011096
19 glomerular sclerosis 31 HP:0000096

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
ataxia
pachygyria
brain atrophy
enlarged ventricles
more
Head And Neck Head:
microcephaly

Genitourinary Kidneys:
nephrotic syndrome
end-stage renal disease (in some patients)
focal segmental glomerulosclerosis seen on renal biopsy

Head And Neck Ears:
deafness
fleshy ears

Head And Neck Eyes:
hypertelorism
epicanthal folds
deep-set eyes

Laboratory Abnormalities:
proteinuria

Muscle Soft Tissue:
edema

Head And Neck Face:
facial dysmorphism
prominent chin
elongated face

Clinical features from OMIM®:

617731 (Updated 20-May-2021)

Drugs & Therapeutics for Galloway-Mowat Syndrome 5

Search Clinical Trials , NIH Clinical Center for Galloway-Mowat Syndrome 5

Genetic Tests for Galloway-Mowat Syndrome 5

Genetic tests related to Galloway-Mowat Syndrome 5:

# Genetic test Affiliating Genes
1 Galloway-Mowat Syndrome 5 29 TPRKB

Anatomical Context for Galloway-Mowat Syndrome 5

MalaCards organs/tissues related to Galloway-Mowat Syndrome 5:

40
Eye, Brain, Kidney

Publications for Galloway-Mowat Syndrome 5

Articles related to Galloway-Mowat Syndrome 5:

# 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 5

ClinVar genetic disease variations for Galloway-Mowat Syndrome 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TPRKB NM_016058.4(TPRKB):c.446A>G (p.Tyr149Cys) SNV Pathogenic 444885 rs1233885358 GRCh37: 2:73957152-73957152
GRCh38: 2:73730025-73730025
2 TPRKB NM_016058.4(TPRKB):c.407T>C (p.Leu136Pro) SNV Pathogenic 444884 rs1553433412 GRCh37: 2:73957721-73957721
GRCh38: 2:73730594-73730594
3 TPRKB NM_016058.5(TPRKB):c.455_456del (p.Ser152fs) Microsatellite Pathogenic 1033393 GRCh37: 2:73957142-73957143
GRCh38: 2:73730015-73730016

UniProtKB/Swiss-Prot genetic disease variations for Galloway-Mowat Syndrome 5:

72
# Symbol AA change Variation ID SNP ID
1 TPRKB p.Leu136Pro VAR_080355 rs155343341
2 TPRKB p.Tyr149Cys VAR_080356 rs123388535

Expression for Galloway-Mowat Syndrome 5

Search GEO for disease gene expression data for Galloway-Mowat Syndrome 5.

Pathways for Galloway-Mowat Syndrome 5

GO Terms for Galloway-Mowat Syndrome 5

Sources for Galloway-Mowat Syndrome 5

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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