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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
isolated growth hormone deficiency type II
Summary
- Synonym
-
- IGHD II
- autosomal dominant isolated growth hormone deficiency
- autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency
- congenital IGHD type II
- congenital isolated GH deficiency type II
- congenital isolated growth hormone deficiency type II
- Definition
- An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has_material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3.
- Super Class
- isolated growth hormone deficiency
External Links
- Disease Ontology
- DOID:0060872
- Mondo Disease Ontology
-
- MONDO:0005152
- MONDO:0007794
- MONDO:0007844
- MONDO:0008250
- MONDO:0009482
- MONDO:0010635
- MONDO:0012528
- MONDO:0012880
- MONDO:0012988
- MONDO:0013099
- MONDO:0013910
- MONDO:0013911
- MONDO:0013912
- MONDO:0013913
- MONDO:0013914
- MONDO:0013915
- MONDO:0013926
- MONDO:0013961
- MONDO:0014102
- MONDO:0014103
- MONDO:0014105
- MONDO:0014106
- MONDO:0014107
- MONDO:0014461
- MONDO:0015127
- MONDO:0015770
- MONDO:0015789
- MONDO:0016384
- MONDO:0016553
- MONDO:0018555
- MONDO:0018762
- MONDO:0018800
- MONDO:0019032
- MONDO:0019614
- MONDO:0019617
- MONDO:0019618
- MONDO:0019824
- MONDO:0019832
- MONDO:0019841
- MeSH
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 128 | ADH5 | alcohol dehydrogenase 5 (class III), chi polypeptide | |
| 412 | STS | steroid sulfatase | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 1586 | CYP17A1 | cytochrome P450 family 17 subfamily A member 1 | |
| 1588 | CYP19A1 | cytochrome P450 family 19 subfamily A member 1 | |
| 1604 | CD55 | CD55 molecule (Cromer blood group) | |
| 1890 | TYMP | thymidine phosphorylase | |
| 2619 | GAS1 | growth arrest specific 1 | |
| 2710 | GK | glycerol kinase | |
| 2817 | GPC1 | glypican 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P22033 | Methylmalonyl-CoA mutase, mitochondrial | |
| P32004 | Neural cell adhesion molecule L1 | |
| P32189 | Glycerol kinase | |
| P35052 | Glypican-1 | |
| P35610 | Sterol O-acyltransferase 1 | |
| P54826 | Growth arrest-specific protein 1 | |
| Q6ZVN8 | Hemojuvelin | |
| Q8IY17 | Patatin-like phospholipase domain-containing protein 6 |
