MCID: GLL039
MIFTS: 16

Galloway-Mowat Syndrome 2, X-Linked

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 57 75 6
Gamos2 57 75

Characteristics:

OMIM:

57
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:



External Ids:

OMIM 57 301006

Summaries for Galloway-Mowat Syndrome 2, X-Linked

UniProtKB/Swiss-Prot : 75 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 and eye.

OMIM : 57 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

Symptoms via clinical synopsis from OMIM:

57
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

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

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

41
Brain, Eye

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:

75
# 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 GRCh38 Chromosome X, 154478284: 154478284
2 LAGE3 NM_006014.4(LAGE3): c.316G> T (p.Val106Phe) single nucleotide variant Pathogenic GRCh37 Chromosome X, 153706623: 153706623
3 LAGE3 NM_006014.4(LAGE3): c.410T> C (p.Phe137Ser) single nucleotide variant Pathogenic GRCh37 Chromosome X, 153706305: 153706305
4 LAGE3 NM_006014.4(LAGE3): c.410T> C (p.Phe137Ser) single nucleotide variant Pathogenic GRCh38 Chromosome X, 154477966: 154477966
5 LAGE3 NM_006014.4(LAGE3): c.188+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome X, 153707066: 153707066
6 LAGE3 NM_006014.4(LAGE3): c.188+1G> A single nucleotide variant Pathogenic 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

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
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