Isolated Growth Hormone Deficiency, Type Ia (IGHD1A)

Alias:

Isolated Growth Hormone Deficiency Type Ia

Pituitary Dwarfism I

Growth Hormone Deficiency, Isolated, Type Ia

Illig-Type Growth Hormone Deficiency

Sexual Ateleiotic Dwarfism

Primordial Dwarfism

Ighd Ia

Congenital Isolated Growth Hormone Deficiency Type Ia

Congenital Isolated Gh Deficiency Type Ia

Congenital Ighd Type Ia

Ighd1a

Growth Hormone Deficiency, Isolated, Autosomal Recessive

Autosomal Recessive Isolated Growth Hormone Deficiency

Growth Hormone Deficiency Isolated Autosomal Recessive

Growth Hormone Deficiency, Isolated, 1a

Pituitary Dwarfism 1

Dwarfism, Primordial

Ateleiotic Dwarfism

Dwarfism

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Isolated Growth Hormone Deficiency, Type Ia, also known as isolated growth hormone deficiency type ia, is related to microcephalic osteodysplastic primordial dwarfism, type i and seckel syndrome, and has symptoms including back pain, muscle cramp and sciatica. An important gene associated with Isolated Growth Hormone Deficiency, Type Ia is GH1 (Growth Hormone 1), and among its related pathways/superpathways are Mesenchymal Stem Cells and Lineage-specific Markers and G-protein signaling_RhoA regulation pathway. The drugs Anastrozole and Letrozole have been mentioned in the context of this disorder. Affiliated tissues include pituitary and bone, and related phenotypes are hypoglycemia and growth delay

Related ID：

MALACARDS：ISL014

OMIM：262400

MESH：D004393