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multiple congenital anomalies-hypotonia-seizures syndrome 1
Summary
- Definition
- A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21.
- Super Class
- autosomal recessive disease multiple congenital anomalies-hypotonia-seizures syndrome
External Links
- Disease Ontology
- DOID:0080138
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95427 | GPI ethanolamine phosphate transferase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0004681 | Deep longitudinal plantar crease |
| HP:0004742 | Abnormal renal collecting system morphology |
| HP:0004969 | Peripheral pulmonary artery stenosis |
| HP:0005830 | Flexion contracture of toe |
| HP:0006165 | Proportionate shortening of all digits |
| HP:0006254 | Elevated circulating alpha-fetoprotein concentration |
| HP:0006829 | Severe muscular hypotonia |
| HP:0007441 | Hyperpigmented/hypopigmented macules |
| HP:0008551 | Microtia |
| HP:0008635 | Urinary bladder wall hypertrophy |
