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GTR Home > Conditions/Phenotypes > X-linked agammaglobulinemia with growth hormone deficiency

X-linked agammaglobulinemia with growth hormone deficiency

Synonyms
Agammaglobulinemia and isolated growth hormone deficiency, X-linked; Fleisher syndrome; Growth hormone deficiency with hypogammaglobulinemia; Hypogammaglobulinemia and isolated growth hormone deficiency, X-linked; IGHD III; ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA; Isolated growth hormone deficiency type 3
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

IGHD3 is characterized by agammaglobulinemia and markedly reduced numbers of B cells, short stature, delayed bone age, and good response to treatment with growth hormone (summary by Conley et al., 1991). For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see 262400. [from OMIM]

Available tests

40 tests are in the database for this condition.

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Clinical tests (40 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AGMX1, AT, ATK, BPK, IGHD3, IMD1, PSCTK1, XLA, BTK
    Summary: Bruton tyrosine kinase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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