NOCGUS
MCID: NRC022
MIFTS: 22
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Neurooculocardiogenitourinary Syndrome (NOCGUS)
Categories:
Genetic diseases
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MalaCards integrated aliases for Neurooculocardiogenitourinary Syndrome:Characteristics:Classifications:External Ids:
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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) |
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Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618652 |
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Genetic tests related to Neurooculocardiogenitourinary Syndrome:
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MalaCards organs/tissues related to Neurooculocardiogenitourinary Syndrome:40
Brain,
Skin,
Ovary,
Uterus
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Articles related to Neurooculocardiogenitourinary Syndrome:
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ClinVar genetic disease variations for Neurooculocardiogenitourinary Syndrome:6
UniProtKB/Swiss-Prot genetic disease variations for Neurooculocardiogenitourinary Syndrome:73
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Search
GEO
for disease gene expression data for Neurooculocardiogenitourinary Syndrome.
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