| Syndrome |
Further Information |
Gene (alias) |
| Autoimmune Polyglandular Syndrome (APS1/APECED) |
|
AIRE (APS1)
|
| Bardet-Biedl Syndrome |
|
BBS1 (BBS)
BBS2 (BBS)
BBS10 (BBS)
|
| Combined Pituitary Hormone Deficiency (CPHD) |
|
POU1F1 (PIT1) (CPHD)
PROP1 (CPHD)
|
| Congenital Adrenal Hyperplasia (CAH) |
Indications for Testing 
Benefits of Genetic Testing
Disease Review
GeneReviews (CYP21A2)*
Ordering (CYP21A2, CYP11B1) (US, Japan, Canada)
Ordering (CYP21A2) (US, Japan, Canada)
Ordering (CYP11B1) (US, Japan, Canada)
Ordering (HSD3B2) (US, Japan, Canada)
Ordering (STAR - Lipoid CAH) (US, Japan, Canada)
Ordering (other countries)
|
CYP21A2 (CAH)
CYP11B1 (CAH)
CYP17A1 (CAH)
HSD3B2 (CAH)
STAR (CAH)
|
| Congenital Hyperinsulinism |
|
ABCC8 (CH)
KCNJ11 (CH)
GLUD1 (CH)
GCK (CH)
|
| Early-Onset Obesity |
|
MC4R
|
| Endocrine Hypertension |
|
HSD11B2 (AME)
|
| Familial Hypocalciuric Hypercalcemia |
|
CASR (FHH)
|
| Familial Male-Limited Precocious Puberty |
|
LHCGR (FMPP)
|
| Hypercholesterolemia |
|
LDLR (FH)
APOB (FDB)
|
| Hypophosphatemic Rickets |
|
PHEX (XLH)
FGF23 (ADHR)
|
| Idiopathic Osteoporosis |
|
LRP5 (IOP)
|
| Maturity-Onset Diabetes of the Young (MODY) |
|
HNF4A (MODY1)
GCK (MODY2)
TCF1 (HNF1A) (MODY3)
IPF1 (PDX1) (MODY4)
TCF2 (HNF1B) (MODY5)
CEL (MODY8)
|
| Multiple Endocrine Neoplasia Type 1 (MEN1) |
|
MEN1 (MEN1)
|
| Multiple Endocrine Neoplasia Type 2 (MEN2) |
|
RET (MEN2)
|
| Neonatal Diabetes Mellitus |
|
IPF1 (NDM)
GCK (NDM)
KCNJ11 (NDM)
|
| Nephrogenic Diabetes Insipidus |
|
AVPR2 (NDI)
AQP2 (NDI)
|
| Noonan Syndrome |
|
PTPN11 (NS)
|
| Osteogenesis Imperfecta (OI) |
|
COL1A1 (OI)
COL1A2 (OI)
|
| Osteoporosis-Pseudoglioma Syndrome |
|
LRP5 (OPPG)
|
| Pheochromocytoma Evaluation |
|
VHL (PHEO)
RET (PHEO)
SDHB (PHEO)
|
| Primary Adrenal Insufficiency |
|
ABCD1 (X-ALD)
NR0B1 (DAX1) (X-AHC)
AIRE (APS1, APECED)
CYP21A2 (CAH)
HSD3B2 (CAH)
|
| von Hippel Lindau Syndrome |
|
VHL (VHL)
|
*GeneReviews are syndrome descriptions published online by GeneTests.org.
** For the purpose of this table, "pathogenic" includes: known to be pathogenic, probably pathogenic, and possibly pathogenic variants. |
