Amish, Mennonite, and Hutterite
Genetic Disorder Database

Pituitary Dwarfism III

Disorder
OMIM #: #262600  (Click to access OMIM database)
Disorder: Pituitary Dwarfism III 
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: Ateliotic dwarfism, hypothyroidism, hypogonadism, adrenal insufficiency, panhypopituitarism, hypoglycemia, growth deficiency, dwarfism, short stature 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Hutterite  
Gene: PROP1
Base Change: c.301_302delAG
Amino Acid Change: p.Leu102Cysfs*8
Last updated: 2019-01-18 

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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