GAMOS2
MCID: GLL039
MIFTS: 21

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 57 72 29 6
Gamos2 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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)


HPO:

31
galloway-mowat syndrome 2, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Galloway-Mowat Syndrome 2, X-Linked

UniProtKB/Swiss-Prot : 72 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 kidney, and related phenotypes are stage 5 chronic kidney disease and intellectual disability

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) (Updated 20-May-2021)

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:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 stage 5 chronic kidney disease 31 very rare (1%) HP:0003774
2 intellectual disability 31 HP:0001249
3 spasticity 31 HP:0001257
4 scoliosis 31 HP:0002650
5 nystagmus 31 HP:0000639
6 high palate 31 HP:0000218
7 global developmental delay 31 HP:0001263
8 delayed speech and language development 31 HP:0000750
9 microcephaly 31 HP:0000252
10 short stature 31 HP:0004322
11 proteinuria 31 HP:0000093
12 intrauterine growth retardation 31 HP:0001511
13 micrognathia 31 HP:0000347
14 nephrotic syndrome 31 HP:0000100
15 arachnodactyly 31 HP:0001166
16 dysmetria 31 HP:0001310
17 polymicrogyria 31 HP:0002126
18 feeding difficulties 31 HP:0011968
19 cerebellar atrophy 31 HP:0001272
20 cerebral atrophy 31 HP:0002059
21 generalized hypotonia 31 HP:0001290
22 esotropia 31 HP:0000565
23 narrow forehead 31 HP:0000341
24 seizure 31 HP:0001250
25 glomerular sclerosis 31 HP:0000096
26 minimal change glomerulonephritis 31 HP:0012579

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
seizures
spasticity
dysmetria
polymicrogyria
more
Head And Neck Eyes:
nystagmus
esotropia

Growth Height:
short stature

Growth Other:
intrauterine growth retardation

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

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
poor feeding

Skeletal Spine:
scoliosis

Head And Neck Head:
microcephaly

Laboratory Abnormalities:
proteinuria

Head And Neck Face:
micrognathia
narrow forehead

Skeletal Hands:
arachnodactyly

Head And Neck Mouth:
high-arched palate

Clinical features from OMIM®:

301006 (Updated 20-May-2021)

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 29 LAGE3

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

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

40
Kidney

Publications for Galloway-Mowat Syndrome 2, X-Linked

Articles related to Galloway-Mowat Syndrome 2, X-Linked:

# Title Authors PMID Year
1
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. 6 57
28805828 2017
2
Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of Galloway-Mowat syndrome. 6 57
12693786 2003

Variations for Galloway-Mowat Syndrome 2, X-Linked

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LAGE3 NM_006014.4(LAGE3):c.410T>C (p.Phe137Ser) SNV Pathogenic 444872 rs1557211209 GRCh37: X:153706305-153706305
GRCh38: X:154477966-154477966
2 LAGE3 NM_006014.4(LAGE3):c.188+1G>A SNV Pathogenic 444873 rs1557211410 GRCh37: X:153707066-153707066
GRCh38: X:154478727-154478727
3 LAGE3 NM_006014.4(LAGE3):c.316G>T (p.Val106Phe) SNV Pathogenic 444871 rs1557211306 GRCh37: X:153706623-153706623
GRCh38: X:154478284-154478284
4 LAGE3 NM_006014.4(LAGE3):c.431A>G (p.Ter144=) SNV Pathogenic 1031593 GRCh37: X:153706284-153706284
GRCh38: X:154477945-154477945

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

72
# Symbol AA change Variation ID SNP ID
1 LAGE3 p.Val106Phe VAR_080374 rs155721130
2 LAGE3 p.Phe137Ser VAR_080375 rs155721120

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 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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