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12 Possible Causes for Caused by Mutation in the WAS Gene, Gram-Negative Bacteria, Mousy Odor

  • Phenylketonuria

    Longevity without meds: May die at 1-2 weeks from severe gram negative or liver failure bacteria infections.[web.archive.org] Most forms of PKU and hyperphenylalaninaemia (HPA) are caused by mutations in the PAH gene on chromosome 12q23.2.[ncbi.nlm.nih.gov] Characteristic physical findings include: light hair, eye, and skin pigmentation an eczematous rash hyperactive behavior a musty or mousy odor (due to phenylacetic acid in[epilepsy.com]

  • Halitosis

    Anaerobic gram-negative bacteria, the same species that have been linked to periodontal diseases, are especially involved in this process, explaining why clinicians often[ncbi.nlm.nih.gov] MAT I/III deficiency, secondary to mutations in the coding gene, MAT A1, have been described. 130, 131, 132, 133 MAT I/III deficiency may be implicated in isolated persistent[doi.org] Diabetic ketoacidosis (DKA) produces a sweet or fruity odor of acetone, liver failure produces a mousy or sometimes faintly sulfurous odor, and renal failure produces an odor[merckmanuals.com]

  • Autosomal Agammaglobulinemia

    Mental deterioration, hypopigmentation (blond hair and blue eyes), mousy body odor (from phenylacetic acid in urine and sweat).[kumc.edu] Haemophilus influenzae Streptococcus pneumoniae Staphylococcus aureus Gram-negative bacteria Enteroviruses Giardia duodenalis Unusual pathogens – Helicobacter cinaedi Clinical[arupconsult.com] }), caused by disruption of the LRRC8 gene ({608360}); AGM6 ({612692}), caused by mutation in the CD79B gene ({147245}); AGM7 ({615214}), caused by mutation in the PIK3R1[diseaseinfosearch.org]

  • X-linked Severe Congenital Neutropenia

    Coverage for meticillin-resistant Staphylococcus aureus (MRSA) or resistant Gram-negative bacteria may be required.[patient.info] Wiskott-Aldrich syndrome is caused by mutations in the WAS gene, which encodes Wiskott-Aldrich syndrome protein. read more NGS/Del Dup Comprehensive Turnaround Time: Typically[ctgt.net] Mental deterioration, hypopigmentation (blond hair and blue eyes), mousy body odor (from phenylacetic acid in urine and sweat).[kumc.edu]

  • Blue Diaper Syndrome

    However, microscopial examination failed to reveal red blood cells but did show a large number of gram-negative bacteria, which proved to be S. marcescens.[antimicrobe.org] Mutations in the LAT2 and TAT1 genes might be involved in causing this syndrome.[streetdirectory.com] Mental deterioration, hypopigmentation (blond hair and blue eyes), mousy body odor (from phenylacetic acid in urine and sweat).[kumc.edu]

  • Autosomal Recessive Agammaglobulinemia

    Haemophilus influenzae Streptococcus pneumoniae Staphylococcus aureus Gram-negative bacteria Enteroviruses Giardia duodenalis Unusual pathogens – Helicobacter cinaedi Clinical[arupconsult.com] }), caused by disruption of the LRRC8 gene ({608360}); AGM6 ({612692}), caused by mutation in the CD79B gene ({147245}); AGM7 ({615214}), caused by mutation in the PIK3R1[diseaseinfosearch.org] Mental deterioration, hypopigmentation (blond hair and blue eyes), mousy body odor (from phenylacetic acid in urine and sweat).[kumc.edu]

  • Pasteurella Multocida

    Pasteurella multocida is a Gram-negative bacteria found in the oropharynx of many domestic animals.[ncbi.nlm.nih.gov] RESULTS: Macrolide resistance in one M. haemolytica isolate was conferred by the 23S rRNA mutation A2058G; resistance in three P. multocida isolates were caused by mutations[ncbi.nlm.nih.gov] Colony growth is accompanied by a characteristic "mousy" odor due to metabolic products.[en.wikipedia.org]

  • Autosomal Dominant Severe Congenital Neutropenia

    Mental deterioration, hypopigmentation (blond hair and blue eyes), mousy body odor (from phenylacetic acid in urine and sweat).[kumc.edu] Among them, NE attacks gram negative bacteria like Klebsiella pneumoniae or Escherichia coli ( 11 ).[jkms.org] About half of all cases of severe congenital neutropenia are caused by mutations in the ELANE gene. Another 10 percent are caused by mutations in the HAX1 gene.[ghr.nlm.nih.gov]

  • Familial Progressive Hyper- and Hypopigmentation

    The clinical history (no sign or symptoms of atopy, scrapings for potassium hydroxide -KOH- examination and gram stain negative for fungi and bacteria, normal sensibility[lucianoschiazza.it] It is caused by a pathogenic mutation of the KITLG gene. OBJECTIVES: To investigate the clinical features and mutation of the KITLG gene in a Chinese family with FPHH.[ncbi.nlm.nih.gov] Mental deterioration, hypopigmentation (blond hair and blue eyes), mousy body odor (from phenylacetic acid in urine and sweat).[kumc.edu]

  • Familial Candidiasis 2

    It is noteworthy that 2hC12:0 and 3hC12:0 are the signature compounds of non-fermentative Gram-negative bacteria (NFB), while 3hC18:0 and 10hC18:0 are the reference markers[frontiersin.org] An autoimmune disease, APECED, caused by mutation in a novel gene featuring two PHD-type zinc-finger mutation. Nat Genet 1997 ; 17 : 399 –403.[jmg.bmj.com] Mental deterioration, hypopigmentation (blond hair and blue eyes), mousy body odor (from phenylacetic acid in urine and sweat).[kumc.edu]

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