Isolated Growth Hormone Deficiency, Type Ia (IGHD1A)

Isolated Growth Hormone Deficiency, Type Ia(来自ICD-11)
别称:
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
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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
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MALACARDS
AR
Newborn
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64
512
50

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