Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia (IGHD3)

Alias:
Fleisher Syndrome
Ighd3
Short Stature Due to Isolated Growth Hormone Deficiency with X-Linked Hypogammaglobulinemia
Hypogammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked
X-Linked Hypogammaglobulinemia and Isolated Growth Hormone Deficiency
Agammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked
Growth Hormone Deficiency, Isolated, 3, with Agammaglobulinemia
Growth Hormone Deficiency with Hypogammaglobulinemia, X-Linked
X-Linked Agammaglobulinemia with Growth Hormone Deficiency
Agammaglobulinemia and Isolated Growth Hormone Deficiency
Growth Hormone Deficiency, Isolated, Type Iii )
Isolated Growth Hormone Deficiency Type 3
Ighd Iii
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia, also known as fleisher syndrome, is related to panhypopituitarism, x-linked and isolated growth hormone deficiency type iii. An important gene associated with Isolated Growth Hormone Deficiency, Type Iii, with Agammaglobulinemia is BTK (Bruton Tyrosine Kinase). Affiliated tissues include b cells and bone, and related phenotypes are delayed skeletal maturation and short stature
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Newborn
--
2
19
109

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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