THIRTY endocrine disorders/syndromes with gene causal relationships (Genetic Endocrine Disorders)

Tuan Tran, M.D., Ph.D.

It’s important to note that not all endocrine disorders have well-defined genetic causes. Additionally, the information available may be subject to updates and revisions.

1. Cushing’s Syndrome
   • Gene: MEN1, CDKN1B
   • Chromosomal Location: MEN1 – 11q13, CDKN1B – 12p13
   • Inheritance: MEN1 – Autosomal Dominant, CDKN1B – Autosomal Dominant
2. Multiple Endocrine Neoplasia Type 1 (MEN1)
   • Gene: MEN1
   • Chromosomal Location: 11q13
   • Inheritance: Autosomal Dominant
3. Multiple Endocrine Neoplasia Type 2A (MEN2A)
   • Gene: RET
   • Chromosomal Location: 10q11.2
   • Inheritance: Autosomal Dominant
4. Multiple Endocrine Neoplasia Type 2B (MEN2B)
   • Gene: RET
   • Chromosomal Location: 10q11.2
   • Inheritance: Autosomal Dominant
5. Hereditary Pheochromocytoma and Paraganglioma
   • Gene: SDHD, SDHB, SDHC, SDHA
   • Chromosomal Location: SDHD – 11q23, SDHB – 1p36, SDHC – 1q21, SDHA – 5p15.33
   • Inheritance: Autosomal Dominant
6. Polycystic Ovary Syndrome (PCOS)
   • Gene: Various genetic factors, including but not limited to INSR, DENND1A, LHCGR
   • Chromosomal Location: Varies
   • Inheritance: Complex, likely polygenic
7. Turner Syndrome
   • Gene: Monosomy X (45,X)
   • Chromosomal Location: X chromosome
   • Inheritance: Not inherited, occurs sporadically
8. Klinefelter Syndrome
   • Gene: Extra X chromosome (47,XXY)
   • Chromosomal Location: X chromosome
   • Inheritance: Not inherited, occurs sporadically
9. Congenital Adrenal Hyperplasia (CAH)
   • Gene: CYP21A2
   • Chromosomal Location: 6p21.3
   • Inheritance: Autosomal Recessive
10. Hypoparathyroidism
    • Gene: AIRE, CASR
    • Chromosomal Location: AIRE – 21q22.3, CASR – 3q13.3-q21
    • Inheritance: AIRE – Autosomal Recessive, CASR – Autosomal Dominant
11. Thyroid Dyshormonogenesis
    • Gene: TPO, TG, DUOX2, DUOXA2, SLC5A5
    • Chromosomal Location: TPO – 2p25.3, TG – 8q24.22, DUOX2 – 15q21.1, DUOXA2 – 15q21.1, SLC5A5 – 19p13.11
    • Inheritance: Varies (autosomal recessive, autosomal dominant)
12. McCune-Albright Syndrome
    • Gene: GNAS
    • Chromosomal Location: 20q13.32
    • Inheritance: Mosaicism
13. Achondroplasia
    • Gene: FGFR3
    • Chromosomal Location: 4p16.3
    • Inheritance: Autosomal Dominant
14. Graves’ Disease
    • Gene: HLA, TSHR
    • Chromosomal Location: HLA – 6p21.3, TSHR – 14q31.1
    • Inheritance: Complex, likely polygenic
15. Diabetes Mellitus Type 1
    • Gene: HLA
    • Chromosomal Location: 6p21.3
    • Inheritance: Complex, likely polygenic
16. Diabetes Mellitus Type 2
    • Gene: TCF7L2, PPARG
    • Chromosomal Location: TCF7L2 – 10q25.3, PPARG – 3p25.2
    • Inheritance: Complex, likely polygenic
17. Prader-Willi Syndrome
    • Gene: Deletion on chromosome 15 (15q11-q13)
    • Chromosomal Location: 15q11-q13
    • Inheritance: De novo deletion or paternal disomy
18. Adrenoleukodystrophy
    • Gene: ABCD1
    • Chromosomal Location: Xq28
    • Inheritance: X-linked
19. McCune-Albright Syndrome
    • Gene: GNAS
    • Chromosomal Location: 20q13.32
    • Inheritance: Mosaicism
20. Familial Isolated Pituitary Adenomas (FIPA)
    • Gene: AIP (Aryl Hydrocarbon Receptor Interacting Protein)
    • Chromosomal Location: 11q13.2
    • Inheritance: Autosomal Dominant
21. Hyperparathyroidism-Jaw Tumor Syndrome
    • Gene: CDC73 (also known as HRPT2)
    • Chromosomal Location: 1q31.2
    • Inheritance: Autosomal Dominant
22. Congenital Hypothyroidism
    • Gene: TSHR, TPO, TG
    • Chromosomal Location: TSHR – 14q31.1, TPO – 2p25.3, TG – 8q24.22
    • Inheritance: Varies (autosomal recessive, autosomal dominant)
23. Neurofibromatosis Type 1 (NF1)
    • Gene: NF1
    • Chromosomal Location: 17q11.2
    • Inheritance: Autosomal Dominant
24. Neurofibromatosis Type 2 (NF2)
    • Gene: NF2
    • Chromosomal Location: 22q12.2
    • Inheritance: Autosomal Dominant
25. Pseudohypoparathyroidism
    • Gene: GNAS
    • Chromosomal Location: 20q13.32
    • Inheritance: Usually Autosomal Dominant (imprinting defect)
26. Smith-Magenis Syndrome
    • Gene: RAI1
    • Chromosomal Location: 17p11.2
    • Inheritance: Usually De Novo Mutation
27. Carney Complex
    • Gene: PRKAR1A
    • Chromosomal Location: 17q24.2
    • Inheritance: Autosomal Dominant
28. Familial Medullary Thyroid Carcinoma
    • Gene: RET
    • Chromosomal Location: 10q11.2
    • Inheritance: Autosomal Dominant
29. Familial Hyperaldosteronism Type I (FH-I)
    • Gene: CYP11B2
    • Chromosomal Location: 8q24.3
    • Inheritance: Autosomal Dominant
30. Familial Hyperaldosteronism Type II (FH-II)
    • Gene: KCNJ5
    • Chromosomal Location: 11q24.3
    • Inheritance: Autosomal Dominant

SOURCES:

1. Children’s Hospital of Philadelphia (chop.edu)
   2. https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
2. https://www.massgeneral.org/children/endocrine/genetic-disorders
3. https://www.northwell.edu/endocrinology-diabetes-metabolism/conditions/genetic-endocrine-disorders