Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary endocrinological diseases

Under this term familial endocrinological disorders are subsumed. The hormon producing cells are localized mainly in the following organs: pituitary gland, thyroid gland, adrenal gland and various sexual organs. Functional groups are growth regulation, regulation of renal water and salt excretion, regulation of differentiation of sexual organs and sexual function, regulation of thyroid hormone secretion.

Systematic

Hereditary diseases
Hereditary broncho-pulmonary disease
Hereditary cardiac disease
Hereditary dermatological disorders
Hereditary diseases of the hematopoetic system and coagulopathies
Hereditary endocrinological diseases
Autoimmune polyendokrinopathy
Autoimmune polyendocrinopathy syndrome 1
AIRE
Autoimmune polyendocrinopathy syndrome 2
X-linked immunodysregulation, polyendocrinopathy, and enteropathy
FOXP3
Disorder of the aldosterone system
Hyperaldosteronism
Conn syndrome
ATP1A1
ATP2B3
CACNA1D
CACNA1H
CTNNB1
KCNJ5
Glucocorticoid triggered hypertension
NR3C1
Hyperaldosteronism type 1
CYP11B1
CYP11B2
Hyperaldosteronism type 2
Hyperaldosteronism type 3
KCNJ5
Hyperaldosteronism type 4
CACNA1D
CACNA1H
Hypoaldosteronism
CYP11B2
Pseudohyperaldosteronism
Apparent mineralocorticoid excess
HSD11B2
Liddle syndrome
NEDD4
NEDD4L
NR3C2
OXSR1
SCNN1B
SCNN1G
STK39
Pregnancy exacerbated hypertension
NR3C2
Pseudohypoaldosteronism
Pseudohypoaldosteronism type 2
CUL3
KLHL3
WNK1
WNK4
Pseudohypoaldosteronism type1
NR3C2
SCNN1A
SCNN1B
SCNN1G
Disorder of the thyroid hormon system
Hyperthyroidism
Familial gestational hyperthyroidism
TSHR
Graves disease
GC
McCune-Albright syndrom
GNAS
Non-autoimmune hyperthyroidism
TSHR
Susceptibility to thyrotoxic periodic paralysis 1
CACNA1S
Hypothyroidism
Bamforth-Lazarus syndrome
FOXE1
Central hypothyroidism
Central hypothyroidism and testicular enlargement
IGSF1
Generalized thyrotropin-releasing hormone resistance
TRHR
Thyrotropin-releasing hormone deficiency
TRH
Choreoathetosis with hypothyroidism and neonatal respiratory distress
NKX2-1
Congenital nongoitrous hypothyroidism
Congenital nongoitrous hypothyroidism 1
TSHR
Congenital nongoitrous hypothyroidism 2
PAX8
Congenital nongoitrous hypothyroidism 3
Congenital nongoitrous hypothyroidism 4
TSHB
Congenital nongoitrous hypothyroidism 5
NKX2-5
Congenital nongoitrous hypothyroidism 6
THRA
Neonatal diabetes mellitus with congenital hypothyroidism
GLIS3
Thyroid dyshormonogenesis
Pendred syndrome
SLC26A4
Thyroid dyshormonogenesis 1
SLC5A5
Thyroid dyshormonogenesis 2a
TPO
Thyroid dyshormonogenesis 3
TG
Thyroid dyshormonogenesis 4
IYD
Thyroid dyshormonogenesis 5
DUOXA2
Thyroid dyshormonogenesis 6
DUOX2
Susceptibility to autoimmune thyroid disease
Graves disease
GC
Susceptibility to autoimmune thyroid disease 1
Susceptibility to autoimmune thyroid disease 2
Susceptibility to autoimmune thyroid disease 3
TG
ZFAT
Susceptibility to autoimmune thyroid disease 4
Susceptibility to autoimmune thyroid disease 5
Thyroid cancer
Familial medullary thyroid cancer
NTRK1
RET
Non-medullary thyroid cancer
Familial follicular thyroid carcinoma
MINPP1
Follicular thyroid carcinoma
HRAS
NRAS
Hyperfunctioning thyroid adenoma
TSHR
Non-medullary thyroid cancer 2
SRGAP1
Non-medullary thyroid cancer 3
Non-medullary thyroid cancer 4
FOXE1
Non-medullary thyroid cancer 4
NKX2-1
Non-medullary thyroid cancer 5
HABP2
Thyroid carcinoma with thyrotoxicosis
TSHR
Thyroid hormone resistance
Abnormal thyroid hormone metabolism
SECISBP2
Allan-Herndon-Dudley syndrome
SLC16A2
RXRA
Thyroid hormone resistance, generalized, autosomal dominant
THRA
THRB
Thyroid hormone resistance, generalized, autosomal recessive
THRB
Thyroid hormone resistance, selective pituitary
THRB
Disorders of sex development
Congenital hypogonadotropic hypogonadism with anosmia 1
ANOS1
Congenital hypogonadotropic hypogonadism without anosmia 4
PROK2
Congenital hypogonadotropic hypogonadism without anosmia 5
CHD7
Denys-Drash syndrome
WT1
Hypogonadotropic hypogonadism 6 with or without anosmia
FGF8
Müllerian aplasia and hyperandrogenism
WNT4
SERKAL syndrome
WNT4
Disorders of the growth control system
ADAMTSL3
Combined pituitary hormone deficiency
Pituitary hormone deficiency type 1
POU1F1
Pituitary hormone deficiency type 2
PROP1
Pituitary hormone deficiency type 3
LHX3
Pituitary hormone deficiency type 4
LHX4
Pituitary hormone deficiency type 5
HESX1
Growth hormone deficiency
GH1
Growth hormone secretagogue resistance
GHSR
Isolated growth hormone deficiency type 1A
GH1
Isolated growth hormone deficiency type 1B
GH1
GHRH
GHRHR
Isolated growth hormone deficiency type 2
GH1
Isolated growth hormone deficiency type 3
BTK
Kowarski syndrome
GH1
Growth hormone hypersensitivity
GHR
Growth hormone insensitivity
Growth hormone insensitivity with immunodeficiency
STAT5B
IGFBP3
Insulin-like growth factor 1 deficiency
IGF1
Insulin-like growth factor 1 resistance
IGF1R
Insulin-like growth factor 1 transport protein deficiency
IGFALS
Laron syndrome
GHR
SH2B1
Disorders of the parathyroid hormone system
Humoral hypercalcemia of malignancy
PTHLH
Hyperparathyroidism
AP2S1
CASR
CDC73
Familial Isolated Hyperparathyroidism
GCM2
GNA11
Hypoparathyroidism
AP2S1
CASR
GCM2
GNA11
Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome
GATA3
Hypoparathyroidism-retardation-dysmorphism syndrome
TBCE
Kenny-Caffey syndrome
TBCE
PTH
Parathyroid carcinoma
CDC73
Pseudohyperparathyreoidism
Metaphyseal chondrodysplasia of Murk Jansen type
PTH1R
Pseudohypoparathyroidism
Albright hereditary osteodystrophy
GNAS
Pseudohypoparathyroidism type IB
GNAS
STX16
Disorders of the steroid hormone system
ACTH-independent macronodular adrenal hyperplasia 1
GNAS
ACTH-independent macronodular adrenal hyperplasia 2
ARMC5
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
CYP17A1
Disorder of the aldosterone system
Hyperaldosteronism
Conn syndrome
ATP1A1
ATP2B3
CACNA1D
CACNA1H
CTNNB1
KCNJ5
Glucocorticoid triggered hypertension
NR3C1
Hyperaldosteronism type 1
CYP11B1
CYP11B2
Hyperaldosteronism type 2
Hyperaldosteronism type 3
KCNJ5
Hyperaldosteronism type 4
CACNA1D
CACNA1H
Hypoaldosteronism
CYP11B2
Pseudohyperaldosteronism
Apparent mineralocorticoid excess
HSD11B2
Liddle syndrome
NEDD4
NEDD4L
NR3C2
OXSR1
SCNN1B
SCNN1G
STK39
Pregnancy exacerbated hypertension
NR3C2
Pseudohypoaldosteronism
Pseudohypoaldosteronism type 2
CUL3
KLHL3
WNK1
WNK4
Pseudohypoaldosteronism type1
NR3C2
SCNN1A
SCNN1B
SCNN1G
Disordered steroidogenesis due to POR deficiency
POR
Glucocorticoid resistance
NR3C1
Obesity, adrenal insufficiency, and red hair due to POMC deficiency
POMC
Hereditary diabetes insipidus
Central diabetes insipidus
AVP
Nephrogenic diabetes insipidus
AQP2
AVPR2
Wolfram syndrome
Diabetes insipidus and mellitus with optic atrophy and deafness
Wolfram syndrome 1
WFS1
Wolfram syndrome 2
CISD2
Hereditary dsorders of the pituitary gland
Combined pituitary hormone deficiency
Pituitary hormone deficiency type 1
POU1F1
Pituitary hormone deficiency type 2
PROP1
Pituitary hormone deficiency type 3
LHX3
Pituitary hormone deficiency type 4
LHX4
Pituitary hormone deficiency type 5
HESX1
Familial and sporadic pituitary adenomas
CDH23
Kidney disease appearing as endocrinological disorders
Liddle syndrome
NEDD4
NEDD4L
NR3C2
OXSR1
SCNN1B
SCNN1G
STK39
Nephrogenic diabetes insipidus
AQP2
AVPR2
Pseudohypoaldosteronism
Pseudohypoaldosteronism type 2
CUL3
KLHL3
WNK1
WNK4
Pseudohypoaldosteronism type1
NR3C2
SCNN1A
SCNN1B
SCNN1G
Pseudohypoparathyroidism
Albright hereditary osteodystrophy
GNAS
Pseudohypoparathyroidism type IB
GNAS
STX16
Pheochromocytoma
GDNF
KIF1B
MAX
RET
SDHB
SDHD
TMEM127
VHL
Hereditary immunological disorders
Hereditary kidney diseases
Hereditary liver disease
Hereditary malformations
Hereditary metabolic diseases
Hereditary musculoskeletal diseases
Hereditary neurological disorders
Hereditary ocular disease and visual impairment
Hereditary otorhinolaryngological disorders
Hereditary pancreatic disease
Hereditary susceptibility to infections
Hereditary tumors
Hereditary vascular disease
Hypertension

References:

1.

Jimenez C et al. (2004) Genetic testing in endocrinology: lessons learned from experience with multiple endocrine neoplasia type 2 (MEN2).

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2.

None (2004) Focus on hereditary endocrine neoplasia.

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3.

Cheung P et al. (2005) Epigenetic regulation by histone methylation and histone variants.

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4.

Björnström L et al. (2005) Mechanisms of estrogen receptor signaling: convergence of genomic and nongenomic actions on target genes.

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5.

None (2005) Integration of the extranuclear and nuclear actions of estrogen.

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6.

Day RN et al. (2005) Imaging molecular interactions in living cells.

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7.

None (2004) Pheochromocytoma: current perspectives in the pathogenesis, diagnosis, and management.

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8.

Pascual-Le Tallec L et al. (2005) The mineralocorticoid receptor: a journey exploring its diversity and specificity of action.

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9.

Stocco DM et al. (2005) Multiple signaling pathways regulating steroidogenesis and steroidogenic acute regulatory protein expression: more complicated than we thought.

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10.

Hu X et al. (2006) The evolution of mineralocorticoid receptors.

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11.

Carroll JS et al. (2006) Estrogen receptor target gene: an evolving concept.

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12.

None (2004) Acromegaly - evolving strategies.

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Update: April 29, 2019