Neurooculocardiogenitourinary Syndrome (NOCGUS)

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Disease Ontology 12 DOID:0111675 OMIM 56 618652 MeSH 43 D000015

MedGen 41 CN262657 EFO 17 EFO_0010663

UniProtKB/Swiss-Prot : ⁷³ Neurooculocardiogenitourinary syndrome: An autosomal dominant multisystem disorder characterized by significant neurological impairment with structural brain defects and seizures, poor feeding, poor postnatal growth, ocular anomalies, dysmorphic facial features, and variable skeletal, cardiac and genitourinary defects. Death in infancy may occur.

MalaCards based summary : Neurooculocardiogenitourinary Syndrome, is also known as nocgus. An important gene associated with Neurooculocardiogenitourinary Syndrome is WDR37 (WD Repeat Domain 37). Affiliated tissues include brain, skin and ovary.

Disease Ontology : ¹² A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has material basis in heterozygous mutation in WDR37 on chromosome 10p15.3.

OMIM : ⁵⁶ Neurooculocardiogenitourinary syndrome (NOCGUS) is a multisystem disorder characterized by poor growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems. Lethality before 2 years of age has been observed (Reis et al., 2019). (618652)

Clinical features from OMIM:

618652

Search Clinical Trials , NIH Clinical Center for Neurooculocardiogenitourinary Syndrome

Search GEO for disease gene expression data for Neurooculocardiogenitourinary Syndrome.