Pituitary hormone deficiency 2, combined
| Disorder | |
|---|---|
| OMIM #: | #262600 (Click to access OMIM database) |
| Disorder: | Pituitary hormone deficiency 2, combined |
| Also known as: | PANHYPOPITUITARISM, ATELIOTIC DWARFISM WITH HYPOGONADISM, HANHART DWARFISM, PITUITARY HORMONE DEFICIENCY, COMBINED CPHD, PITUITARY HORMONE DEFICIENCY, COMBINED, WITH RIGID CERVICAL SPINE, INCLUDED |
| Clinical | |
| Phenotype: | hypothyroidism, hypogonadism, adrenal insufficiency, panhypopituitarism, hypoglycemia, various hormone deficiencies, growth deficiency, short stature |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Hutterite | |
| Gene: | PROP1 |
| Base Change: | c.301_302delAG |
| Amino Acid Change: | p.Leu102Cysfs*8 |
| Last updated: | 2022-11-14 |
| References |
|---|
| McKusick VA and Rimoin DL. (1967) General Tom Thumb and other midgets. Sci Am 217(1): 102-106. PubMed ID: 6046325 |
| Mosely CT, Phillips JA III, and Rimoin DL. (2002) Genetic disorders of the pituitary gland.In: Emery,; Rimoin, D. L. (eds.): Emery's and Rimoin's Principles and Practices of Medical Genetics. London: Churchill Livingston (4th ed.) Fig. 80.3, Pp. 2153. |
| Wu W, Cogan JD, Pfäffle RW, Dasen JS, Frisch H, O'Connell SM, Flynn SE, Brown MR, Mullis PE, Parks JS, Phillips JA 3rd, and Rosenfeld MG. (1998) Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nat Genet 18(2):147-149. PubMed ID: 9462743 |
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