Pseudohypoparathyroidism, Type Ia (PHP1A)

Alias:

Albright's Hereditary Osteodystrophy

Albright Hereditary Osteodystrophy

Pseudohypoparathyroidism Type 1a

Albright Hereditary Osteodystrophy with Multiple Hormone Resistance

Albright Hereditary Osteodystrophy-Php Syndrome Ia

Pseudohypoparathyroidism Type I a

Pseudohypoparathyroidism Ia

Aho-Php Syndrome Ia

Php1a

Pseudohypoparathyroidism 1a

Pseudohypoparathyroidism

Php Ia

Aho

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Pseudohypoparathyroidism, Type Ia, also known as albright's hereditary osteodystrophy, is related to chromosome 2q37 deletion syndrome and hyperphosphatemia, and has symptoms including seizures An important gene associated with Pseudohypoparathyroidism, Type Ia is GNAS (GNAS Complex Locus), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Benzocaine and Tannic acid have been mentioned in the context of this disorder. Affiliated tissues include thyroid and bone, and related phenotypes are pseudohypoparathyroidism and short stature

Related ID：

MALACARDS：PSD108

OMIM：103580

MESH：C537045