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hypotonia-cystinuria syndrome
Summary
- Synonym
-
- cystinuria with mitochondrial disease
- Definition
- A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.
- Super Class
- chromosomal deletion syndrome syndrome
External Links
- Disease Ontology
- DOID:0060858
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q07837 | Amino acid transporter heavy chain SLC3A1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002591 | Polyphagia |
| HP:0001250 | Seizure |
| HP:0003131 | Cystinuria |
| HP:0001508 | Failure to thrive |
| HP:0000508 | Ptosis |
| HP:0001943 | Hypoglycemia |
| HP:0000135 | Hypogonadism |
| HP:0000278 | Retrognathia |
| HP:0002901 | Hypocalcemia |
| HP:0005280 | Depressed nasal bridge |
