MCID: GLL042
MIFTS: 18

Galloway-Mowat Syndrome 5

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

Aliases & Classifications for Galloway-Mowat Syndrome 5

MalaCards integrated aliases for Galloway-Mowat Syndrome 5:

Name: Galloway-Mowat Syndrome 5 57 12 75 6
Gamos5 57 75

Characteristics:

OMIM:

57
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:



External Ids:

OMIM 57 617731
Disease Ontology 12 DOID:0080247

Summaries for Galloway-Mowat Syndrome 5

UniProtKB/Swiss-Prot : 75 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 brain and eye.

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)

Related Diseases for Galloway-Mowat Syndrome 5

Symptoms & Phenotypes for Galloway-Mowat Syndrome 5

Symptoms via clinical synopsis from OMIM:

57
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

Anatomical Context for Galloway-Mowat Syndrome 5

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

41
Brain, Eye

Publications for Galloway-Mowat Syndrome 5

Variations for Galloway-Mowat Syndrome 5

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

75
# Symbol AA change Variation ID SNP ID
1 TPRKB p.Leu136Pro VAR_080355
2 TPRKB p.Tyr149Cys VAR_080356

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 GRCh37 Chromosome 2, 73957721: 73957721
2 TPRKB NM_016058.3(TPRKB): c.407T> C (p.Leu136Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 73730594: 73730594
3 TPRKB NM_016058.3(TPRKB): c.446A> G (p.Tyr149Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 73957152: 73957152
4 TPRKB NM_016058.3(TPRKB): c.446A> G (p.Tyr149Cys) single nucleotide variant Pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....