Galloway-mowat syndrome 1

Preferred Label : Galloway-mowat syndrome 1;

Symbol : GAMOS1;

CISMeF acronym : CAMOS; GAMOS1; SCAR5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Microcephaly, hiatal hernia, and nephrotic syndrome; Nephrosis-neuronal dysmigration syndrome; CAMOS; Nephrosis-microcephaly syndrome; Cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities; Spinocerebellar ataxia, autosomal recessive 5; Galloway syndrome; SCAR5;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the WD repeat-containing protein 73 gene (WDR73, 616144.0001);

Laboratory abnormalities : Hypoalbuminemia; Proteinuria;

Prefixed ID : #251300;

Details

Origin ID

251300;

UMLS CUI

C4551772;

Currated CISMeF NLP mapping
- Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder) [SNOMED CT concept]
- Galloway Mowat syndrome [MeSH concept]
- Galloway Mowat syndrome (disorder) [SNOMED CT concept]
- Galloway syndrome [PASCAL descriptor]
- Galloway-Mowat Syndrome [NCIt concept]
- Galloway-Mowat syndrome [ORDO Disease]
- Galloway-Mowat syndrome 1 [DO Concept]
- galloway mowat syndrome [MeSH Supplementary Concept]
DO Cross reference
- Galloway-Mowat syndrome 1 [DO Concept]
Genes related to phenotype
- Wd repeat-containing protein 73 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly [HPO term]
- Cataract [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Corneal opacity [HPO term]
- Dandy-Walker malformation [HPO term]
- Delayed speech and language development [HPO term]
- Diffuse mesangial sclerosis [HPO term]
- Dystonia [HPO term]
- Epicanthus [HPO term]
- Feeding difficulties [HPO term]
- Flat occiput [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Global developmental delay [HPO term]
- Hand clenching [HPO term]
- Hiatus hernia [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hyperreflexia [HPO term]
- Hypertelorism [HPO term]
- Hypoalbuminemia [HPO term]
- Hypopigmentation of the skin [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplasia of the iris [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint contracture of the hand [HPO term]
- Low-set ears [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Midface retrusion [HPO term]
- Narrow nasal ridge [HPO term]
- Nephrotic syndrome [HPO term]
- Nystagmus [HPO term]
- Oligohydramnios [HPO term]
- Opacification of the corneal stroma [HPO term]
- Optic atrophy [HPO term]
- Pachygyria [HPO term]
- Pes cavus [HPO term]
- Poor speech [HPO term]
- Prominent nose [HPO term]
- Proteinuria [HPO term]
- Ptosis [HPO term]
- Renal insufficiency [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Sleep disturbance [HPO term]
- Slender finger [HPO term]
- Sloping forehead [HPO term]
- Small for gestational age [HPO term]
- Small nail [HPO term]
- Spastic tetraplegia [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
- Ventriculomegaly [HPO term]
- Wide mouth [HPO term]
- focal glomerulosclerosis [HPO term]
Not associated HPO term(s)
- Abnormality of neuronal migration [HPO term]
ORDO concept(s)
- Galloway-Mowat syndrome [ORDO Disease]
See also inter- (CISMeF)
- CAMOS syndrome [ORDO Disease]
- Spinocerebellar ataxia, autosomal recessive 5 [MeSH concept]
- spinocerebellar ataxia, autosomal recessive 5 [MeSH Supplementary Concept]
- zinc finger protein 592 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Galloway Mowat syndrome [MeSH concept]
- Galloway Mowat syndrome (disorder) [SNOMED CT concept]
- Galloway syndrome [PASCAL descriptor]
- Galloway-Mowat Syndrome [NCIt concept]
- Galloway-Mowat syndrome [ORDO Disease]
- Galloway-Mowat syndrome 1 [DO Concept]
- galloway mowat syndrome [MeSH Supplementary Concept]

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