Rare Disease Library

Laron syndrome

Complete growth hormone insensitivity · GH receptor deficiency

Familial hyperthyroidism due to mutations in TSH receptor

Familial non-immune hyperthyroidism · Resistance to thyroid stimulating hormone

Generalized resistance to thyroid hormone

Deafness-thyroid hormone resistance syndrome · Refetoff syndrome

Growth delay due to insulin-like growth factor I resistance

Resistance to IGF-1

Growth hormone insensitivity syndrome

GHIS · Short stature due to a defect in growth hormone receptor or post-receptor pathway

Laron syndrome with immunodeficiency

Laron-like syndrome · Short stature due to STAT5b deficiency

Leydig cell hypoplasia due to complete LH resistance

46,XY DSD due to complete LH receptor inactivation · 46,XY DSD due to complete LH resistance

Leydig cell hypoplasia due to partial LH resistance

46,XY DSD due to partial LH receptor inactivation · 46,XY DSD due to partial LH resistance

Pituitary resistance to thyroid hormone

PRTH · Selective pituitary resistance to thyroid hormone

Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha

Resistance to thyroid hormone due to a mutation in TRa · RTHa

Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta

Resistance to thyroid hormone due to a mutation in TRb · Resistance to thyroid hormone beta

Short stature due to GHSR deficiency

Ghrelin receptor deficiency · Short stature due to growth hormone secretagogue receptor deficiency

Short stature due to growth hormone qualitative anomaly

Kowarski syndrome

Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

Short stature due to partial GHR deficiency

Short stature due to partial growth hormone receptor deficiency