Rare Diseases Symptoms Automatic Extraction

A new era for Waldenstrom macroglobulinemia: MYD88 L265P.

[waldenström macroglobulinemia]

In this issue of Blood, Poulain et al demonstrate the high prevalence of the MYD88 L265P somatic mutation in patients with Waldenstrom macroglobulinemia (WM) and provide insight into its biological relevance in the growth and survival of WM.

Diseases presenting "high prevalence" symptom

  • 22q11.2 deletion syndrome
  • acute rheumatic fever
  • adrenal incidentaloma
  • allergic bronchopulmonary aspergillosis
  • alpha-thalassemia
  • cholangiocarcinoma
  • classical phenylketonuria
  • congenital adrenal hyperplasia
  • congenital toxoplasmosis
  • cowden syndrome
  • cutaneous mastocytosis
  • cystinuria
  • dracunculiasis
  • dystrophic epidermolysis bullosa
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • fabry disease
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • gm1 gangliosidosis
  • heparin-induced thrombocytopenia
  • homocystinuria without methylmalonic aciduria
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • legionellosis
  • lymphangioleiomyomatosis
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • oligodontia
  • oral submucous fibrosis
  • papillon-lefèvre syndrome
  • pendred syndrome
  • phenylketonuria
  • primary hyperoxaluria type 1
  • pyomyositis
  • scrub typhus
  • sneddon syndrome
  • trochlear dysplasia
  • waldenström macroglobulinemia
  • wiskott-aldrich syndrome
  • zellweger syndrome

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