GAMOS6
MCID: GLL045
MIFTS: 24

Galloway-Mowat Syndrome 6 (GAMOS6)

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

Aliases & Classifications for Galloway-Mowat Syndrome 6

MalaCards integrated aliases for Galloway-Mowat Syndrome 6:

Name: Galloway-Mowat Syndrome 6 57 72 29 6
Gamos6 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in infancy or early childhood
renal impairment may be age-dependent or may not be present


HPO:

31
galloway-mowat syndrome 6:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Galloway-Mowat Syndrome 6

UniProtKB/Swiss-Prot : 72 Galloway-Mowat syndrome 6: 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. GAMOS6 is an autosomal recessive form with onset in infancy or early childhood. Affected individuals manifest microcephaly, global developmental delay, variable degrees of intellectual disability, and growth deficiency. Renal impairment may be age-dependent or may not be present.

MalaCards based summary : Galloway-Mowat Syndrome 6, is also known as gamos6. An important gene associated with Galloway-Mowat Syndrome 6 is WDR4 (WD Repeat Domain 4). Affiliated tissues include eye and bone, and related phenotypes are hypothyroidism and abnormal facial shape

OMIM® : 57 Galloway-Mowat syndrome is a phenotypically heterogeneous disorder characterized by neurodevelopmental defects combined with renal-glomerular disease manifest as nephrotic syndrome and proteinuria. Most patients with GAMOS6 also have growth deficiency with variable microcephaly, and the renal disease may be age-dependent. Additional variable endocrine abnormalities have also been reported (summary by Braun et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (251300). (618347) (Updated 20-May-2021)

Related Diseases for Galloway-Mowat Syndrome 6

Symptoms & Phenotypes for Galloway-Mowat Syndrome 6

Human phenotypes related to Galloway-Mowat Syndrome 6:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 31 very rare (1%) HP:0000821
2 abnormal facial shape 31 very rare (1%) HP:0001999
3 proteinuria 31 very rare (1%) HP:0000093
4 nephrotic syndrome 31 very rare (1%) HP:0000100
5 hypoalbuminemia 31 very rare (1%) HP:0003073
6 cerebellar atrophy 31 very rare (1%) HP:0001272
7 decreased response to growth hormone stimuation test 31 very rare (1%) HP:0000824
8 sleep disturbance 31 HP:0002360
9 high palate 31 HP:0000218
10 global developmental delay 31 HP:0001263
11 delayed skeletal maturation 31 HP:0002750
12 delayed speech and language development 31 HP:0000750
13 microcephaly 31 HP:0000252
14 anteverted nares 31 HP:0000463
15 short stature 31 HP:0004322
16 microdontia 31 HP:0000691
17 epicanthus 31 HP:0000286
18 wide mouth 31 HP:0000154
19 downturned corners of mouth 31 HP:0002714
20 clinodactyly of the 5th finger 31 HP:0004209
21 decreased body weight 31 HP:0004325
22 periorbital fullness 31 HP:0000629
23 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
microcephaly

Growth Height:
short stature

Head And Neck Eyes:
periorbital fullness
epicanthal folds

Skeletal Hands:
fifth finger clinodactyly

Neurologic Behavioral Psychiatric Manifestations:
stereotypic movements
sudden bursts of laughter

Growth Weight:
low weight

Endocrine Features:
hypothyroidism (in some patients)
growth hormone deficiency (in some patients)
hypogonadotropic hypogonadism, partial (in some patients)

Head And Neck Face:
dysmorphic facial features, variable (in some patients)

Head And Neck Nose:
anteverted nares

Head And Neck Mouth:
wide mouth
high-arched palate
downturned corners of the mouth

Neurologic Central Nervous System:
sleep disturbances
learning disabilities
delayed walking
delayed development
impaired intellectual development
more
Skeletal:
delayed bone age

Head And Neck Teeth:
small teeth

Growth Other:
poor overall growth

Genitourinary Kidneys:
effacement of podocyte foot processes
focal segmental glomerulosclerosis seen on renal biopsy
nephrotic syndrome (in some patients)

Laboratory Abnormalities:
proteinuria (in some patients)
hypoalbuminemia (in some patients)

Clinical features from OMIM®:

618347 (Updated 20-May-2021)

Drugs & Therapeutics for Galloway-Mowat Syndrome 6

Search Clinical Trials , NIH Clinical Center for Galloway-Mowat Syndrome 6

Genetic Tests for Galloway-Mowat Syndrome 6

Genetic tests related to Galloway-Mowat Syndrome 6:

# Genetic test Affiliating Genes
1 Galloway-Mowat Syndrome 6 29 WDR4

Anatomical Context for Galloway-Mowat Syndrome 6

MalaCards organs/tissues related to Galloway-Mowat Syndrome 6:

40
Eye, Bone

Publications for Galloway-Mowat Syndrome 6

Articles related to Galloway-Mowat Syndrome 6:

# Title Authors PMID Year
1
Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. 6 57
30079490 2018
2
Speech and language delay in a patient with WDR4 mutations. 57 6
29597095 2018
3
Further delineation of the phenotype caused by biallelic variants in the WDR4 gene. 57 6
28617965 2018
4
Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism. 6
26416026 2015

Variations for Galloway-Mowat Syndrome 6

ClinVar genetic disease variations for Galloway-Mowat Syndrome 6:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDR4 NM_018669.6(WDR4):c.509G>A (p.Arg170Gln) SNV Pathogenic 619601 rs1292041526 GRCh37: 21:44282449-44282449
GRCh38: 21:42862339-42862339
2 WDR4 NM_018669.6(WDR4):c.911_927dup (p.Gln310fs) Duplication Pathogenic 619602 rs1569314907 GRCh37: 21:44273726-44273727
GRCh38: 21:42853616-42853617
3 WDR4 NM_018669.6(WDR4):c.491A>C (p.Asp164Ala) SNV Pathogenic 438741 rs1555976610 GRCh37: 21:44282467-44282467
GRCh38: 21:42862357-42862357
4 WDR4 NM_018669.6(WDR4):c.940dup (p.Leu314fs) Duplication Pathogenic 438742 rs776760122 GRCh37: 21:44273713-44273714
GRCh38: 21:42853603-42853604
5 WDR4 NM_018669.6(WDR4):c.454-2A>C SNV Pathogenic 619605 rs779449710 GRCh37: 21:44282506-44282506
GRCh38: 21:42862396-42862396

UniProtKB/Swiss-Prot genetic disease variations for Galloway-Mowat Syndrome 6:

72
# Symbol AA change Variation ID SNP ID
1 WDR4 p.Arg170Gln VAR_081830 rs129204152

Expression for Galloway-Mowat Syndrome 6

Search GEO for disease gene expression data for Galloway-Mowat Syndrome 6.

Pathways for Galloway-Mowat Syndrome 6

GO Terms for Galloway-Mowat Syndrome 6

Sources for Galloway-Mowat Syndrome 6

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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