GAMOS5
MCID: GLL042
MIFTS: 22

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 58 12 76 30 6
Gamos5 58 76

Characteristics:

OMIM:

58
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)


Classifications:



Summaries for Galloway-Mowat Syndrome 5

UniProtKB/Swiss-Prot : 76 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 hypertelorism

OMIM : 58 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)

Related Diseases for Galloway-Mowat Syndrome 5

Symptoms & Phenotypes for Galloway-Mowat Syndrome 5

Human phenotypes related to Galloway-Mowat Syndrome 5:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 stage 5 chronic kidney disease 33 very rare (1%) HP:0003774
2 hypertelorism 33 HP:0000316
3 brain atrophy 33 HP:0012444
4 ataxia 33 HP:0001251
5 spasticity 33 HP:0001257
6 mandibular prognathia 33 HP:0000303
7 hearing impairment 33 HP:0000365
8 global developmental delay 33 HP:0001263
9 abnormal facial shape 33 HP:0001999
10 epicanthus 33 HP:0000286
11 nephrotic syndrome 33 HP:0000100
12 ventriculomegaly 33 HP:0002119
13 deeply set eye 33 HP:0000490
14 pachygyria 33 HP:0001302
15 peripheral demyelination 33 HP:0011096
16 glomerulosclerosis 33 HP:0000096

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
epicanthal folds
deep-set eyes

Head And Neck Head:
microcephaly

Muscle Soft Tissue:
edema

Head And Neck Ears:
deafness
fleshy ears

Neurologic Central Nervous System:
brain atrophy
ataxia
spasticity
pachygyria
enlarged ventricles
more
Laboratory Abnormalities:
proteinuria

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

Head And Neck Face:
facial dysmorphism
prominent chin
elongated face

Clinical features from OMIM:

617731

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 30 TPRKB

Anatomical Context for Galloway-Mowat Syndrome 5

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

42
Eye, Brain, Kidney

Publications for Galloway-Mowat Syndrome 5

Articles related to Galloway-Mowat Syndrome 5:

# Title Authors Year
1
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. ( 28805828 )
2017

Variations for Galloway-Mowat Syndrome 5

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

76
# Symbol AA change Variation ID SNP ID
1 TPRKB p.Leu136Pro VAR_080355
2 TPRKB p.Tyr149Cys VAR_080356 rs123388535

ClinVar genetic disease variations for Galloway-Mowat Syndrome 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TPRKB NM_016058.3(TPRKB): c.407T> C (p.Leu136Pro) single nucleotide variant Pathogenic rs1553433412 GRCh37 Chromosome 2, 73957721: 73957721
2 TPRKB NM_016058.3(TPRKB): c.407T> C (p.Leu136Pro) single nucleotide variant Pathogenic rs1553433412 GRCh38 Chromosome 2, 73730594: 73730594
3 TPRKB NM_016058.3(TPRKB): c.446A> G (p.Tyr149Cys) single nucleotide variant Pathogenic rs1233885358 GRCh37 Chromosome 2, 73957152: 73957152
4 TPRKB NM_016058.3(TPRKB): c.446A> G (p.Tyr149Cys) single nucleotide variant Pathogenic rs1233885358 GRCh38 Chromosome 2, 73730025: 73730025

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
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47 MGI
50 NCI
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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