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microcephalic osteodysplastic primordial dwarfism type I
Summary
- Synonym
-
- Taybi-Linder syndrome
- brachymelic primordial dwarfism
- cephaloskeletal dysplasia
- low-birth-weight dwarfism with skeletal dysplasia
- osteodysplastic primordial dwarfism type I
- Definition
- An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2.
- Super Class
- autosomal recessive disease osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0060608
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5621 | PRNP | prion protein (Kanno blood group) | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 8658 | TNKS | tankyrase | |
| 8879 | SGPL1 | sphingosine-1-phosphate lyase 1 | |
| 9126 | SMC3 | structural maintenance of chromosomes 3 | |
| 9365 | KL | klotho |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00329 | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform | |
| O95271 | Poly [ADP-ribose] polymerase tankyrase-1 | |
| O95470 | Sphingosine-1-phosphate lyase 1 | |
| P04040 | Catalase | |
| P04156 | Major prion protein | |
| P04406 | Glyceraldehyde-3-phosphate dehydrogenase | |
| P06744 | Glucose-6-phosphate isomerase | |
| P07585 | Decorin | |
| P08842 | Steryl-sulfatase | |
| P09874 | Poly [ADP-ribose] polymerase 1 |
