Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
isolated growth hormone deficiency type IA
Summary
- Synonym
-
- IGHD IA
- Illig-type growth hormone deficiency
- autosomal recessive isolated growth hormone deficiency
- pituitary dwarfism I
- primordial dwarfism
- sexual ateleiotic dwarfism
- Definition
- An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3.
- Super Class
- isolated growth hormone deficiency
External Links
- Disease Ontology
- DOID:0060873
- Mondo Disease Ontology
-
- MONDO:0005152
- MONDO:0007794
- MONDO:0007844
- MONDO:0009482
- MONDO:0009876
- 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
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 3293 | HSD17B3 | hydroxysteroid 17-beta dehydrogenase 3 | |
| 3897 | L1CAM | L1 cell adhesion molecule | |
| 4594 | MMUT | methylmalonyl-CoA mutase | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 5373 | PMM2 | phosphomannomutase 2 | |
| 6296 | ACSM3 | acyl-CoA synthetase medium chain family member 3 | |
| 6646 | SOAT1 | sterol O-acyltransferase 1 | |
| 8482 | SEMA7A | semaphorin 7A (JohnMiltonHagen blood group) | |
| 9394 | HS6ST1 | heparan sulfate 6-O-sulfotransferase 1 | |
| 10908 | PNPLA6 | patatin like phospholipase domain containing 6 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15305 | Phosphomannomutase 2 | |
| O60243 | Heparan-sulfate 6-O-sulfotransferase 1 | |
| O75326 | Semaphorin-7A | |
| P05093 | Steroid 17-alpha-hydroxylase/17,20 lyase | |
| P08174 | Complement decay-accelerating factor | |
| P08842 | Steryl-sulfatase | |
| P11766 | Alcohol dehydrogenase class-3 | |
| P16070 | CD44 antigen | |
| P19971 | Thymidine phosphorylase | |
| P21589 | 5'-nucleotidase |
