- Pustular rash (HP:0033605): A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils. Evidence: PCS. Frequency: 6/6. (PMID:25029335)
- Thrombocytosis (HP:0001894): Increased numbers of platelets in the peripheral blood. Evidence: PCS. Frequency: 4/5. (PMID:25029335)
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: PCS. Frequency: 6/10. (PMID:25029335;PMID:25401470)
- Pustule (HP:0200039): A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells. Evidence: PCS. (PMID:25029335)
- Malar rash (HP:0025300): An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose. Evidence: PCS. Frequency: 3/4. (PMID:25401470)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/6. (PMID:25029335)
- Erythema (HP:0010783): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: PCS. (PMID:25029335)
- Periungual erythema (HP:0033425): Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail. Evidence: PCS. Frequency: 3/3. (PMID:25029335)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 3/4. (PMID:25401470)
- Livedo reticularis (HP:0033505): Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension. Evidence: PCS. Frequency: 6/6. (PMID:25029335)
- Nailfold capillary tortuosity (HP:0033250): An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels. Evidence: PCS. Frequency: 3/3. (PMID:25029335)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 10/10. (PMID:25029335;PMID:25401470)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. Frequency: 6/6. (PMID:25029335)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 2/5. (PMID:25029335)
- Telangiectasia (HP:0001009): Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips. Evidence: PCS. Frequency: 6/6. (PMID:25029335)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: PCS. Frequency: 5/5. (PMID:25029335)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 4/6. (PMID:25029335)
- Elevated erythrocyte sedimentation rate (HP:0003565): An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. Evidence: PCS. Frequency: 9/9. (PMID:25029335;PMID:25401470)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: PCS. Frequency: 2/6. (PMID:25029335)
- Joint stiffness (HP:0001387): Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. Evidence: PCS. Frequency: 2/6. (PMID:25029335)
- Decreased total leukocyte count (HP:0001882): An abnormal decreased number of leukocytes in the blood. Evidence: PCS. Frequency: 5/6. (PMID:25029335)
- Raynaud phenomenon (HP:0030880). Evidence: PCS. Frequency: 4/4. (PMID:25029335)
- Increased circulating IgA concentration (HP:0003261): An abnormally increased level of immunoglobulin A in blood. Evidence: PCS. Frequency: 5/5. (PMID:25029335)
- Nasal septum perforation (HP:0033434): A full-thickness defect of the nasal septum. Evidence: PCS. Frequency: 4/6. (PMID:25029335)
- Elevated circulating C-reactive protein concentration (HP:0011227): The concentration of C-reactive protein in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 9/9. (PMID:25029335;PMID:25401470)
- Arthralgia (HP:0002829): Joint pain. Evidence: PCS. Frequency: 2/6. (PMID:25029335)
- Cytoplasmic antineutrophil antibody positivity (HP:0032230): The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils. Evidence: PCS. Frequency: 1/6. (PMID:25029335)
- Myositis (HP:0100614): A general term for inflammation of the muscles without respect to the underlying cause. Evidence: PCS. Frequency: 2/5. (PMID:25029335)
- Follicular hyperplasia (HP:0002729): Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers. Evidence: PCS. Frequency: 3/3. (PMID:25401470)
- Cutis marmorata (HP:0000965): A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather. Evidence: PCS. Frequency: 6/6. (PMID:25029335)
- Recurrent fever (HP:0001954): Periodic (episodic or recurrent) bouts of fever. Evidence: PCS. Frequency: 3/4. (PMID:25401470)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: PCS. (PMID:25029335)
- Rheumatoid factor positive (HP:0002923): The presence in the serum of an autoantibody directed against the Fc portion of IgG. Evidence: PCS. Frequency: 4/4. (PMID:25401470)
- Antiphospholipid antibody positivity (HP:0003613): The presence of circulating autoantibodies to phospholipids. Evidence: PCS. Frequency: 5/6. (PMID:25029335)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. Frequency: 6/6. (PMID:25029335)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. (PMID:25029335)
- Pulmonary fibrosis (HP:0002206): Replacement of normal lung tissues by fibroblasts and collagen. Evidence: PCS. Frequency: 6/10. (PMID:25029335;PMID:25401470)
- Tachypnea (HP:0002789): Very rapid breathing. Evidence: PCS. Frequency: 2/6. (PMID:25029335)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:25029335)
- Increased circulating IgG concentration (HP:0003237): An abnormally increased level of immunoglobulin G in blood. Evidence: PCS. Frequency: 5/5. (PMID:25029335)
- Paratracheal lymphadenopathy (HP:0033280): Enlargement of lymph nodes surrounding the trachea. Evidence: PCS. Frequency: 6/6. (PMID:25029335)
These phenotypes are associated with the disease STING-associated vasculopathy with onset in infancy (OMIM:615934).