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isolated growth hormone deficiency type IB
Summary
- Synonym
-
- IGHD IB
- congenital IGHD type IB
- congenital isolated GH deficiency type IB
- congenital isolated growth hormone deficiency type IB
- dwarfism of Sindh
- Definition
- An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.
- Super Class
- isolated growth hormone deficiency
External Links
- Disease Ontology
- DOID:0060874
- Mondo Disease Ontology
-
- MONDO:0005152
- MONDO:0007794
- MONDO:0007844
- MONDO:0009482
- MONDO:0010635
- MONDO:0012528
- MONDO:0012880
- MONDO:0012988
- MONDO:0013006
- 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
- MONDO:0032567
- ORDO
- OMIM
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 |
|---|---|---|
| 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 |
