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Hereditary endocrinological diseases


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Hereditary endocrinological diseases

Clinical feature: 

Definition: Under this term familial endocrinological disorders are subsumed.

Systematic link table: 

Hereditary diseases
HIV resistance
CCR5
Hereditary bone disease
Hereditary broncho-pulmonary disease
Hereditary endocrinological diseases
Growth hormone deficiency
GH1
Isolated growth hormone deficiency type 1A
GH1
Isolated growth hormone deficiency type 1B
GH1
GHRHR
Isolated growth hormone deficiency type 2
GH1
Isolated growth hormone deficiency type 3
BTK
Kowarski syndrome
GH1
Hyperparathyroidism
CASR
Hypoparathyroidism
CASR
GCM2
PTH
Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome
GATA3
Pseudohypoparathyroidism
Albright hereditary osteodystrophy
GNAS
Pseudohypoparathyroidism type IB
GNAS
STX16
Kidney disease appearing as endocrinological disorders
Liddle syndrome
NEDD4
NEDD4L
NR3C2
SCNN1B
SCNN1G
Nephrogenic diabetes insipidus
AQP2
AVPR2
Pseudohypoaldosteronism
Pseudohypoaldosteronism type 2
WNK1
WNK4
Pseudohypoaldosteronism type1
NR3C2
SCNN1A
SCNN1B
SCNN1G
Pseudohypoparathyroidism
Albright hereditary osteodystrophy
GNAS
Pseudohypoparathyroidism type IB
GNAS
STX16
Liddle syndrome
NEDD4
NEDD4L
NR3C2
SCNN1B
SCNN1G
Pseudohypoaldosteronism
Pseudohypoaldosteronism type 2
WNK1
WNK4
Pseudohypoaldosteronism type1
NR3C2
SCNN1A
SCNN1B
SCNN1G
hereditary diabetes insipidus
Central diabetes insipidus
AVP
Nephrogenic diabetes insipidus
AQP2
AVPR2
Hereditary kidney diseases
Hereditary metabolic diseases
Hereditary neurological disorders
Hereditary ocular disease and visual impairment
Hereditary vascular disease
Hypertension
ACE
ACE2
AGT
hereditary diseases of the hematopoetic system and coagulopathies

Literature: 

Jimenez C et al. (2004) Genetic testing in endocrinology: lessons learned from experience with multiple endocrine neoplasia type 2 (MEN2).
Bravo EL et al. (2004) Pheochromocytoma: current perspectives in the pathogenesis, diagnosis, and management.
Carroll JS et al. (2006) Estrogen receptor target gene: an evolving concept.
Hu X et al. (2006) The evolution of mineralocorticoid receptors.
Stocco DM et al. (2005) Multiple signaling pathways regulating steroidogenesis and steroidogenic acute regulatory protein expression: more complicated than we thought.
Pascual-Le Tallec L et al. (2005) The mineralocorticoid receptor: a journey exploring its diversity and specificity of action.
Day RN et al. (2005) Imaging molecular interactions in living cells.
Levin ER et al. (2005) Integration of the extranuclear and nuclear actions of estrogen.
Björnström L et al. (2005) Mechanisms of estrogen receptor signaling: convergence of genomic and nongenomic actions on target genes.
Cheung P et al. (2005) Epigenetic regulation by histone methylation and histone variants.
Popovic V et al. (2004) Acromegaly - evolving strategies.
Spiegel AM et al. (2004) Focus on hereditary endocrine neoplasia.