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Ontology Browser

Term:
Galloway-Mowat Syndrome 8 (DOID:9009318)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Galloway-Mowat Syndrome 1  
Galloway-Mowat syndrome 2  
Galloway-Mowat syndrome 3  
Galloway-Mowat syndrome 4  
Galloway-Mowat syndrome 5  
Galloway-Mowat Syndrome 6  
Galloway-Mowat Syndrome 7  
Galloway-Mowat Syndrome 8  
Galloway-Mowat syndrome-8 (GAMOS8) is an autosomal recessive disorder characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy. Some patients may have seizures, and some may die in childhood. GAMOS8 is caused by homozygous mutation in the NUP133 gene on chromosome 1q42. Biallelic mutation in the NUP133 gene can also cause nephrotic syndrome type 18 (NPHS18). (OMIM)

Synonyms
Exact Synonyms: GAMOS8
Primary IDs: OMIM:618349

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.