Phenotypes associated with the disease specific granule deficiency 1 (OMIM:245480):
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/1. (PMID:11313242)
- Absent neutrophil lactoferrin (HP:0041042): The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production. Evidence: TAS. (OMIM:245480)
- Neutrophil nuclear clefts (HP:0041043): An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation. Evidence: TAS. (OMIM:245480)
- Impaired neutrophil bactericidal activity (HP:0011993): A reduction in the ability of neutrophils to kill bacteria. Evidence: PCS. Frequency: 11/11. (PMID:10359588;PMID:11313242)
- Hyposegmentation of neutrophil nuclei (HP:0011447): Hyposegmented (hypolobulated) or bilobed neutrophil nuclei. Evidence: PCS. Frequency: 1/1. (PMID:11313242)
- Absent neutrophil specific granules (HP:0012551): Lack of specific granules in neutrophils. Evidence: PCS. Frequency: 2/2. (PMID:10359588;PMID:11313242)
- Abnormal total neutrophil count (HP:0011991): A deviation from the normal range of neutrophil cell counts in the circulation. Evidence: PCS. Frequency: 0/1. (PMID:11313242)
- Increased neutrophil ribosomes (HP:0041046): An increased number of ribosomes detected in neutrophils. Evidence: TAS. (OMIM:245480)
- Low neutrophil alkaline phosphatase (HP:0041044): An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme. Evidence: PCS. Frequency: 1/1. (PMID:11313242)
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: PCS. Frequency: 11/11. (PMID:11313242)
- Increased neutrophil mitochondria (HP:0041045): An increased number of mitochondria detected in neutrophils. Evidence: TAS. (OMIM:245480)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 1/1. (PMID:11313242)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:11313242)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: PCS. Frequency: 1/1. (PMID:11313242)
- Impaired neutrophil chemotaxis (HP:0040238): An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response. Evidence: PCS. Frequency: 1/1. (PMID:11313242)