| Entry |
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| Name |
Laron syndrome;
Growth hormone insensitivity syndrome;
Pituitary dwarfism II |
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| Supergrp |
Growth hormone deficiency [DS: H00254] Hypopituitarism [DS: H01700] |
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| Description |
Laron syndrome is a rare autosomal recessive disease characterized by insensitivity to growth hormone (GH). The disorder is caused by mutations of the gene encoding the GH receptor (GHR), leading to defective functioning of the GH-IGF1 signalling pathway. The main phenotypic feature is dwarfism, noticeable from birth. Patients have an elevated level of GH and undetectable, or very low IGF1 concentrations in serum.
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| Category |
Endocrine disease
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| Brite |
Human diseases [BR:br08402]
Endocrine and metabolic diseases
Hypothalamus and pituitary gland diseases
H02037 Laron syndrome
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Disorders of the pituitary hormone system
5A61 Hypofunction or certain specified disorders of pituitary gland
H02037 Laron syndrome
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| Pathway |
| hsa04080 Neuroactive ligand-receptor interaction | |
| hsa04060 Cytokine-cytokine receptor interaction | |
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| Network |
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| Element |
| N00909 | Mutation-inactivated GHR to GH-Jak-STAT signaling pathway |
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Janecka A, Kolodziej-Rzepa M, Biesaga B |
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| Title |
Clinical and Molecular Features of Laron Syndrome, A Genetic Disorder Protecting from Cancer. |
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| Journal |
In Vivo 30:375-81 (2016) |
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| Reference |
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| Authors |
Edery M, Rozakis-Adcock M, Goujon L, Finidori J, Levi-Meyrueis C, Paly J, Djiane J, Postel-Vinay MC, Kelly PA |
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| Title |
Lack of hormone binding in COS-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism. |
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| Journal |
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| LinkDB |
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