GAMOS2
MCID: GLL039
MIFTS: 20

Galloway-Mowat Syndrome 2, X-Linked (GAMOS2)

Categories: Genetic diseases

Aliases & Classifications for Galloway-Mowat Syndrome 2, X-Linked

MalaCards integrated aliases for Galloway-Mowat Syndrome 2, X-Linked:

Name: Galloway-Mowat Syndrome 2, X-Linked 58 76 30 6
Gamos2 58 76

Characteristics:

OMIM:

58
Inheritance:
x-linked recessive

Miscellaneous:
onset in the first months or years of life
death may occur
four patients from 3 unrelated families have been reported (last curated october 2017)


Classifications:



Summaries for Galloway-Mowat Syndrome 2, X-Linked

UniProtKB/Swiss-Prot : 76 Galloway-Mowat syndrome 2, X-linked: 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 2, X-Linked, is also known as gamos2. An important gene associated with Galloway-Mowat Syndrome 2, X-Linked is LAGE3 (L Antigen Family Member 3). Affiliated tissues include brain, eye and kidney, and related phenotypes are stage 5 chronic kidney disease and nystagmus

OMIM : 58 Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, 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). (301006)

Related Diseases for Galloway-Mowat Syndrome 2, X-Linked

Symptoms & Phenotypes for Galloway-Mowat Syndrome 2, X-Linked

Human phenotypes related to Galloway-Mowat Syndrome 2, X-Linked:

33 (show all 17)
# Description HPO Frequency HPO Source Accession
1 stage 5 chronic kidney disease 33 very rare (1%) HP:0003774
2 nystagmus 33 HP:0000639
3 intellectual disability 33 HP:0001249
4 seizures 33 HP:0001250
5 spasticity 33 HP:0001257
6 global developmental delay 33 HP:0001263
7 delayed speech and language development 33 HP:0000750
8 micrognathia 33 HP:0000347
9 dysmetria 33 HP:0001310
10 nephrotic syndrome 33 HP:0000100
11 polymicrogyria 33 HP:0002126
12 cerebellar atrophy 33 HP:0001272
13 cerebral atrophy 33 HP:0002059
14 esotropia 33 HP:0000565
15 glomerulosclerosis 33 HP:0000096
16 narrow forehead 33 HP:0000341
17 minimal change glomerulonephritis 33 HP:0012579

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
esotropia

Skeletal Spine:
scoliosis

Growth Height:
short stature

Head And Neck Face:
micrognathia
narrow forehead

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

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
poor feeding

Neurologic Central Nervous System:
intellectual disability
seizures
spasticity
dysmetria
polymicrogyria
more
Head And Neck Head:
microcephaly

Laboratory Abnormalities:
proteinuria

Growth Other:
intrauterine growth retardation

Skeletal Hands:
arachnodactyly

Head And Neck Mouth:
high-arched palate

Clinical features from OMIM:

301006

Drugs & Therapeutics for Galloway-Mowat Syndrome 2, X-Linked

Search Clinical Trials , NIH Clinical Center for Galloway-Mowat Syndrome 2, X-Linked

Genetic Tests for Galloway-Mowat Syndrome 2, X-Linked

Genetic tests related to Galloway-Mowat Syndrome 2, X-Linked:

# Genetic test Affiliating Genes
1 Galloway-Mowat Syndrome 2, X-Linked 30 LAGE3

Anatomical Context for Galloway-Mowat Syndrome 2, X-Linked

MalaCards organs/tissues related to Galloway-Mowat Syndrome 2, X-Linked:

42
Brain, Eye, Kidney

Publications for Galloway-Mowat Syndrome 2, X-Linked

Variations for Galloway-Mowat Syndrome 2, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Galloway-Mowat Syndrome 2, X-Linked:

76
# Symbol AA change Variation ID SNP ID
1 LAGE3 p.Val106Phe VAR_080374
2 LAGE3 p.Phe137Ser VAR_080375

ClinVar genetic disease variations for Galloway-Mowat Syndrome 2, X-Linked:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LAGE3 NM_006014.4(LAGE3): c.316G> T (p.Val106Phe) single nucleotide variant Pathogenic rs1557211306 GRCh38 Chromosome X, 154478284: 154478284
2 LAGE3 NM_006014.4(LAGE3): c.316G> T (p.Val106Phe) single nucleotide variant Pathogenic rs1557211306 GRCh37 Chromosome X, 153706623: 153706623
3 LAGE3 NM_006014.4(LAGE3): c.410T> C (p.Phe137Ser) single nucleotide variant Pathogenic rs1557211209 GRCh37 Chromosome X, 153706305: 153706305
4 LAGE3 NM_006014.4(LAGE3): c.410T> C (p.Phe137Ser) single nucleotide variant Pathogenic rs1557211209 GRCh38 Chromosome X, 154477966: 154477966
5 LAGE3 NM_006014.4(LAGE3): c.188+1G> A single nucleotide variant Pathogenic rs1557211410 GRCh37 Chromosome X, 153707066: 153707066
6 LAGE3 NM_006014.4(LAGE3): c.188+1G> A single nucleotide variant Pathogenic rs1557211410 GRCh38 Chromosome X, 154478727: 154478727

Expression for Galloway-Mowat Syndrome 2, X-Linked

Search GEO for disease gene expression data for Galloway-Mowat Syndrome 2, X-Linked.

Pathways for Galloway-Mowat Syndrome 2, X-Linked

GO Terms for Galloway-Mowat Syndrome 2, X-Linked

Sources for Galloway-Mowat Syndrome 2, X-Linked

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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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