GenTIGS

RGDs registry under the 'Endocrine disorders'

Disorder Name (Total=18)	Aliases	Sub-Category	Gene	Indian Reports	Link
Adisons disease Autosomal recessive		Primary adrenal insufficiency	PTPN22 protein tyrosine phosphatase non-receptor type 22 HLA-B major histocompatibility complex, class I, B HLA-DRB1 major histocompatibility complex, class II, DR beta 1	Reports Updated as of Mar 09, 2023	PubMed
Cushing syndrome	•Cushing's syndrome	Adrenal gland disorders	ARMC5 armadillo repeat containing 5	Reports Updated as of Mar 09, 2023	PubMed
Testicular agenesis	•Anorchia •Bilateral anorchia	Gonadal disorders	SRY sex determining region Y NR5A1 nuclear receptor subfamily 5 group A member 1 INSL3 insulin like 3 RXFP2 relaxin family peptide receptor 2	Reports Updated as of Mar 09, 2023	PubMed
Partial Androgen Insensitivity Syndrome X-linked dominant		Gonadal disorders	AR androgen receptor	Reports Updated as of Sep 05, 2023	PubMed
Persistent mullerian duct syndrome Autosomal recessive	•Persistent Müllerian duct syndrome •PMDS • Persistent Müllerian derivatives	Gonadal disorders	AMH anti-Mullerian hormone AMHR2 anti-Mullerian hormone receptor type 2	Reports Updated as of Sep 05, 2023	PubMed
Somatotroph adenoma Autosomal dominant	•Pituitary gigantism, Acromegaly •Acromegaly •Pituitary gigantism	Pituitary tumor	AIP aryl hydrocarbon receptor interacting protein MEN1 menin 1	Reports Updated as of Nov 10, 2023	PubMed
Glucocorticoid deficiency with achalasia Autosomal recessive	•Triple A syndrome (Allgrove syndrome) •Achalasia-Addisonianism-Alacrima Syndrome •AAA syndrome	Adrenal gland disorders	AAAS aladin WD repeat nucleoporin	Reports Updated as of Dec 29, 2023	PubMed
SHORT syndrome Autosomal dominant	•Lipodystrophy-Rieger anomaly-diabetes syndrome	-	PIK3R1 phosphoinositide-3-kinase regulatory subunit 1	Reports Updated as of Dec 29, 2023	PubMed
Pseudopseudohypoparathyroidism Autosomal dominant	•AHO-PPHP syndrome •Albright hereditary osteodystrophy-PPHP syndrome •Albright hereditary osteodystrophy without multiple hormone resistance	Parathyroid gland disorders	GNAS GNAS complex locus	Reports Updated as of Jan 04, 2024	PubMed
Prolactin-producing pituitary gland adenoma Autosomal dominant	•Prolactinoma •Prolactinoma, familial •Pituitary prolactin cell adenoma	Pituitary deficiency	LRP2 LDL receptor related protein 2	Reports Updated as of Jan 04, 2024	PubMed
Pituitary stalk interruption syndrome Autosomal dominant, Autosomal recessive	•Ectopic neurohypophysis •PSIS	Pituitary deficiency	ROBO1 roundabout guidance receptor 1 NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 CDON cell adhesion associated, oncogene regulated DNMT1 DNA methyltransferase 1 KISS1R KISS1 receptor	Reports Updated as of Jan 04, 2024	PubMed
Perrault syndrome 1 Autosomal recessive	•XX gonodal dysgenesis-deafness syndrome •Ovarian dysgenesis with sensorineural deafness •XX gonodal dysgenesis-hearing loss syndrome	Ovarial disorders	HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 PRORP protein only RNase P catalytic subunit FBN1 fibrillin 1 CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit	Reports Updated as of Jan 04, 2024	PubMed
Obesity due to congenital leptin deficiency Autosomal recessive	•Leptin deficiency or dysfunction •Leptin deficiency	Gonadal disorders	LEP leptin	Reports Updated as of Jan 04, 2024	PubMed
Bamforth-Lazarus syndrome Autosomal recessive	•Athyroidal Hypothyroidism with Spiky Hair and Cleft Palate	-	FOXE1 forkhead box E1	Reports Updated as of Feb 01, 2024	PubMed
Apparent mineralocorticoid excess Autosomal recessive	•11-beta-hydroxysteroid dehydrogenase deficiency type 2 •Apparent Mineralocorticoid Excess Syndrome •Cortisol 11-beta-ketoreductase deficiency •Ulick syndrome	Adrenal gland disorders	HSD11B2 hydroxysteroid 11-beta dehydrogenase 2	Reports Updated as of Feb 01, 2024	PubMed
Aromatase deficiency Autosomal recessive	•Pseudohermaphroditism, female, due to placental aromatase deficiency •Increased aromatase activity •Congenital estrogen deficiency	Adrenal gland disorders	CYP19A1 cytochrome P450 family 19 subfamily A member 1	Reports Updated as of Feb 01, 2024	PubMed
Leprechaunism syndrome Autosomal recessive	•Donohue syndrome •Leprechaunism	-	INSR insulin receptor	Reports Updated as of Feb 01, 2024	PubMed
Insulin autoimmune syndrome	•Hirata disease	Autoimmune disorder of endocrine system	AIRE autoimmune regulator	Reports Updated as of Feb 20, 2024	PubMed