GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Select a RGD Category for details 

RGDs registry under the 'Endocrine disorders'
S.No.  Genetic Disorders Aliases Sub-Category Gene symbol  Links Indian
context
1 Adisons disease 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
 PubMed Reports
2 Cushing syndrome •Cushing's syndrome
 Adrenal gland disorders ARMC5 armadillo repeat containing 5
 PubMed Reports
3 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
 PubMed Reports
4 Partial Androgen Insensitivity Syndrome Gonadal disorders AR androgen receptor
 PubMed Reports
5 Persistent mullerian duct syndrome •Persistent Müllerian duct syndrome
•PMDS
• Persistent Müllerian derivatives
 Gonadal disorders AMH anti-Mullerian hormone
AMHR2 anti-Mullerian hormone receptor type 2
 PubMed Reports
6 Somatotroph adenoma •Pituitary gigantism, Acromegaly
•Acromegaly
•Pituitary gigantism
 Pituitary tumor AIP aryl hydrocarbon receptor interacting protein
MEN1 menin 1
 PubMed Reports
7 Glucocorticoid deficiency with achalasia •Triple A syndrome (Allgrove syndrome)
•Achalasia-Addisonianism-Alacrima Syndrome
•AAA syndrome
 Adrenal gland disorders AAAS aladin WD repeat nucleoporin
 PubMed Reports
8 SHORT syndrome •Lipodystrophy-Rieger anomaly-diabetes syndrome
 PIK3R1 phosphoinositide-3-kinase regulatory subunit 1
 PubMed Reports
9 Pseudopseudohypoparathyroidism •AHO-PPHP syndrome
•Albright hereditary osteodystrophy-PPHP syndrome
•Albright hereditary osteodystrophy without multiple hormone resistance
 Parathyroid gland disorders GNAS GNAS complex locus
 PubMed Reports
10 Prolactin-producing pituitary gland adenoma •Prolactinoma
•Prolactinoma, familial
•Pituitary prolactin cell adenoma
 Pituitary deficiency LRP2 LDL receptor related protein 2
 PubMed Reports
11 Pituitary stalk interruption syndrome •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
 PubMed Reports
12 Perrault syndrome 1 •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
 PubMed Reports
13 Obesity due to congenital leptin deficiency •Leptin deficiency or dysfunction
•Leptin deficiency
 Gonadal disorders LEP leptin
 PubMed Reports
14 Bamforth-Lazarus syndrome •Athyroidal Hypothyroidism with Spiky Hair and Cleft Palate
 FOXE1 forkhead box E1
 PubMed Reports
15 Apparent mineralocorticoid excess •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
 PubMed Reports
16 Aromatase deficiency •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
 PubMed Reports
17 Leprechaunism syndrome •Donohue syndrome
•Leprechaunism
 INSR insulin receptor
 PubMed Reports
18 Insulin autoimmune syndrome •Hirata disease
 Autoimmune disorder of endocrine system AIRE autoimmune regulator
 PubMed Reports

 
Conceptualized, designed and developed by Dr. Iliyas Rashid
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