Genetic Diseases & Conditions - Endocrine system (hormones)

The endocrine system is a complex collection of hormone-producing glands that control basic body functions such as growth and sexual development. Advances in molecular genetics have led to a deeper understanding of the mechanisms involved in hereditary endocrine disorders.

Adenomatosis, Familial Endocrine see multiple endocrine neoplasia
Adrenal hypoplasia congenita see X-linked adrenal hypoplasia congenita
Adrenogenital Syndrome see 21-hydroxylase deficiency
Adrenoleukodystrophy see X-linked adrenoleukodystrophy
Adrenomyeloneuropathy see X-linked adrenoleukodystrophy
Adult premature aging syndrome see Werner syndrome
Adult Progeria see Werner syndrome
AIS see androgen insensitivity syndrome
androgen insensitivity syndrome
Angiomatosis retinae see von Hippel-Lindau syndrome
AR deficiency see androgen insensitivity syndrome
Autosomal Recessive Sensorineural Hearing Impairment and Goiter see Pendred syndrome
Bonnevie-Ullrich Syndrome see Turner syndrome
breast cancer
Cancer of breast see breast cancer
Cerebelloretinal Angiomatosis, Familial see von Hippel-Lindau syndrome
CH see congenital hypothyroidism
Congenital Adrenal Hyperplasia see 21-hydroxylase deficiency
Congenital adrenal hypoplasia see X-linked adrenal hypoplasia congenita
congenital hypothyroidism
Cowden syndrome
Cretinism see congenital hypothyroidism
CS see Cowden syndrome
Deafness with goiter see Pendred syndrome
7-Dehydrocholesterol reductase deficiency see Smith-Lemli-Opitz syndrome
DHTR deficiency see androgen insensitivity syndrome
Dihydrotestosterone receptor deficiency see androgen insensitivity syndrome
Endocrine Neoplasia, Multiple see multiple endocrine neoplasia
Familial Endocrine Adenomatosis see multiple endocrine neoplasia
fra(X) syndrome see fragile X syndrome
fragile X syndrome
FRAXA Syndrome see fragile X syndrome
FXS see fragile X syndrome
Goiter-deafness syndrome see Pendred syndrome
Hippel-Lindau Disease see von Hippel-Lindau syndrome
21-hydroxylase deficiency
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency see 21-hydroxylase deficiency
Klinefelter syndrome
Malignant neoplasm of breast see breast cancer
malignant tumour of breast see breast cancer
Mammary cancer see breast cancer
Marker X syndrome see fragile X syndrome
Martin-Bell Syndrome see fragile X syndrome
MEA see multiple endocrine neoplasia
MEN see multiple endocrine neoplasia
MHAM see Cowden syndrome
monosomy X see Turner syndrome
multiple endocrine neoplasia
Multiple hamartoma syndrome see Cowden syndrome
Myxoedema, Congenital see congenital hypothyroidism
Pendred syndrome
Prader-Labhart-Willi syndrome see Prader-Willi syndrome
Prader-Willi syndrome
PWS see Prader-Willi syndrome
RSH Syndrome see Smith-Lemli-Opitz syndrome
Schilder-Addison Complex see X-linked adrenoleukodystrophy
SLO syndrome see Smith-Lemli-Opitz syndrome
SLOS see Smith-Lemli-Opitz syndrome
Smith-Lemli-Opitz syndrome
Testicular feminisation syndrome see androgen insensitivity syndrome
TFM see androgen insensitivity syndrome
TS see Turner syndrome
Turner syndrome
Ullrich-Turner syndrome see Turner syndrome
VHL syndrome see von Hippel-Lindau syndrome
von Hippel-Lindau syndrome
Werner syndrome
WS see Werner syndrome
45,X see Turner syndrome
X-linked adrenal hypoplasia congenita
X-linked adrenoleukodystrophy
X-linked mental retardation and macroorchidism see fragile X syndrome
47,XXY see Klinefelter syndrome
XXY syndrome see Klinefelter syndrome
XXY trisomy see Klinefelter syndrome