Growth hormone deficiency, isolated, type IB
OMIM:612781Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | GHRHR |
|---|---|
| DNA Change | IVS1+2T>G |
| A.A. Change | |
| Exon/Intron | intron 1 |
| Mutation Type | substitution |
| Reference | Hilal L, Hajaji Y, Vie-Luton MP, Ajaltouni Z, Benazzouz B, Chana M, Chra?bi A, Kadiri A, Amselem S, Sobrier ML.Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene. Mol Med. 2008 May-Jun;14(5-6):286-92. |
| Gene Symbol | GHRHR |
|---|---|
| DNA Change | G>C |
| A.A. Change | |
| Exon/Intron | intron 7 |
| Mutation Type | substitution |
| Reference | Walenkamp MJ, Pereira AM, Oostdijk W, Stokvis-Brantsma WH, Pfaeffle RW, Blankenstein O, Wit JM.Height gain with combined growth hormone and gonadotropin-releasing hormone analog therapy in two pubertal siblings with a growth hormone-releasing hormone receptor mutation. J Clin Endocrinol Metab. 2008 Jan;93(1):204-7. |
| Gene Symbol | GHRHR |
|---|---|
| Reference transcript | NM_000823.3 |
| DNA Change | c.57+2T>G |
| A.A. Change | |
| Exon/Intron | intron 1 |
| Mutation Type | substitution |
| Reference | Fritez N, Sobrier ML, Iraqi H, Vié-Luton MP, Netchine I, El Annas A, Pantel J, Collot N, Rose S, Piterboth W, Legendre M2, Chraibi A, Amselem S, Kadiri A, Hilal L.Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism. Clin Endocrinol (Oxf). 2015 Jun;82(6):876-84. |
Variant not named according to HGVS recommendations