RGDs registry under the 'Endocrine disorders'
| Disorder Name (Total=26) | Aliases | Sub-Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| 3 beta-Hydroxysteroid dehydrogenase deficiency Autosomal recessive |
•Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency •Adrenal hyperplasia II •3-beta HSD deficiency •CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency •3-beta-HSD deficiency •3-beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia •3b-hydroxysteroid dehydrogenase deficiency •Adrenal hyperplasia,Congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency •Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency |
Adrenal gland disorders |
HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
Reports Updated as of Sep 08, 2025 |
PubMed |
| 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 | |
| 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 |
| Ateleiotic dwarfism Autosomal recessive |
•Isolated growth hormone deficiency type ia •Pituitary dwarfism 1 •IGHD IA •Autosomal recessive isolated growth hormone deficiency •Congenital IGHD type IA •Congenital isolated GH deficiency type IA •Congenital isolated growth hormone deficiency type IA •Growth hormone deficiency, isolated, type IA • IGHD IA •Illig-type growth hormone deficiency •Pituitary dwarfism I •Primordial dwarfism •Sexual ateleiotic dwarfism •Growth hormone deficiency, isolated autosomal recessive •ILLIG type growth hormone deficiency •Isolated Growth Hormone Deficiency, Type IA •Isolated growth hormone deficiency type 1A |
Pituitary gland disorders |
GH1 growth hormone 1 BRCA2 BRCA2 DNA repair associated XRCC4 X-ray repair cross complementing 4 CRIPT CXXC repeat containing interactor of PDZ3 domain |
Reports Updated as of Sep 08, 2025 |
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 | |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Autosomal recessive |
•CYP21 deficiency •21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia •Congenital adrenal hyperplasia due to 21-hydroxylase deficiency •21-OHD •Classic 21-OHD CAH •Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiencyCYP21A2 |
Adrenal gland disorders |
CYP21A2 cytochrome P450 family 21 subfamily A member 2 |
Reports Updated as of Sep 08, 2025 |
PubMed |
| Congenital adrenal hypoplasia, X-linked X-linked recessive |
•X-linked adrenal hypoplasia congenita •Adrenal hypoplasia, congenital, X-linked recessive •Congenital adrenal hypoplasia •X-linked congenital adrenal hypoplasia •Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism •Isolated X-Linked Adrenal Hypoplasia Congenita •X-Linked Adrenal Hypoplasia Congenita |
Adrenal gland disorders |
NR0B1 nuclear receptor subfamily 0 group B member 1 |
Reports Updated as of Sep 08, 2025 |
PubMed |
| Cushing syndrome |
•Cushing's syndrome |
Adrenal gland disorders |
ARMC5 armadillo repeat containing 5 |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Deficiency of steroid 11-beta-monooxygenase Autosomal recessive |
•Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency •CYP11B1 deficiency •Adrenal hyperplasia iv •adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency •CAH due to 11-beta-hydroxylase deficiency •11-beta-hydroxylase deficiency •11-beta-hydroxylase-deficient congenital adrenal hyperplasia •Adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency •P450c11b1 deficiency •Steroid 11-beta-hydroxylase deficiency |
Adrenal gland disorders |
CYP11B1 cytochrome P450 family 11 subfamily B member 1 |
Reports Updated as of Sep 08, 2025 |
PubMed |
| Deficiency of steroid 17-alpha-monooxygenase Autosomal recessive |
•Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency •Adrenal hyperplasia V •17-alpha-hydroxylase/17,20-lyase deficiency •CAH due to 17-alpha-hydroxylase deficiency •combined 17-hydroxylase/17,20-lyase deficiency •17-alpha-hydroxylase deficiency •17-alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia •Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency •Congenital adrenal hyperplasia type 5 •Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency |
Adrenal gland disorders |
CYP17A1 cytochrome P450 family 17 subfamily A member 1 |
Reports Updated as of Sep 08, 2025 |
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 |
| Insulin autoimmune syndrome |
•Hirata disease |
Autoimmune disorder of endocrine system |
AIRE autoimmune regulator |
Reports Updated as of Feb 20, 2024 |
PubMed |
| Laron-type isolated somatotropin defect Autosomal recessive |
•Laron syndrome •Laron dwarfism •GH receptor deficiency •complete growth hormone insensitivity •Growth Hormone Insensitivity •Growth hormone receptor deficiency •Laron-type dwarfism •Laron-type isolated somatotropin defect •primary GH insensitivity •primary GH resistance •primary growth hormone insensitivity •primary growth hormone resistance •short stature due to growth hormone resistance •Growth hormone binding protein deficiency or dysfunction •Growth hormone receptor deficiency or dysfunction •Laron type pituitary dwarfism I •Pituitary Dwarfism II |
GHR growth hormone receptor |
Reports Updated as of Sep 08, 2025 |
PubMed | |
| Leprechaunism syndrome Autosomal recessive |
•Donohue syndrome •Leprechaunism |
INSR insulin receptor |
Reports Updated as of Feb 01, 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 |
| Partial Androgen Insensitivity Syndrome X-linked dominant |
Gonadal disorders |
AR androgen receptor |
Reports Updated as of Sep 05, 2023 |
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 |
| 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 |
| 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 |
| 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 |
| 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 |
| SHORT syndrome Autosomal dominant |
•Lipodystrophy-Rieger anomaly-diabetes syndrome |
PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 |
Reports Updated as of Dec 29, 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 |
| 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 |
| X-linked agammaglobulinemia with growth hormone deficiency X-linked recessive |
•Isolated growth hormone deficiency type iii •Fleisher syndrome •Agammaglobulinemia and isolated growth hormone deficiency, x-linked •Growth hormone deficiency with hypogammaglobulinemia •Congenital IGHD type III •IGHD III •Congenital isolated GH deficiency type III •Congenital isolated growth hormone deficiency type III •Growth hormone deficiency with hypogammaglobulinemia •isolated growth hormone deficiency, type IIi, with agammaglobulinemia, X-linked recessive •X-linked agammaglobulinemia and isolated growth hormone deficiency •X-linked hypogammaglobulinemia and isolated growth hormone deficiency •X-linked IGHD • X-linked isolated growth hormone deficiency •Hypogammaglobulinemia and isolated growth hormone deficiency, x-linked •Isolated growth hormone deficiency, type iii •Isolated growth hormone deficiency, type iii, with agammaglobulinemia •Isolated growth hormone deficiency type 3 |
Pituitary gland disorders |
BTK Bruton tyrosine kinase |
Reports Updated as of Sep 08, 2025 |
PubMed |