Phenotypes associated with the disease Spondyloenchondrodysplasia with immune dysregulation (OMIM:607944):
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: PCS. Frequency: 2/4. (PMID:2918547)
- Tubulointerstitial fibrosis (HP:0005576): A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy. Evidence: IEA. (OMIM:607944)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 4/4. (PMID:2918547)
- Rheumatoid arthritis (HP:0001370): Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures. Evidence: IEA. (OMIM:607944)
- Cellular immunodeficiency (HP:0005374): An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity. Evidence: IEA. (OMIM:607944)
- Metaphyseal dysplasia (HP:0100255): The presence of dysplastic regions in metaphyseal regions. Evidence: PCS. Frequency: 24/25. (PMID:26951490)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/4. (PMID:2918547)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: PCS. Frequency: 3/4. (PMID:2918547)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: PCS. Frequency: 6/13. (PMID:26951490)
- Spondylometaphyseal dysplasia (HP:0002657). Evidence: IEA. (OMIM:607944)
- Hypopigmented skin patches on arms (HP:0007526). Evidence: IEA. (OMIM:607944)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: TAS. (OMIM:607944)
- Joint swelling (HP:0001386). Evidence: PCS. Frequency: 3/4. (PMID:2918547)
- Spastic diplegia (HP:0001264): Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis. Evidence: TAS. (OMIM:607944)
- Combined immunodeficiency (HP:0005387): A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications. Evidence: TAS. (OMIM:607944)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 7/25. (PMID:26951490)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: PCS. Frequency: 2/4. (PMID:2918547)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 28/29. (PMID:2918547;PMID:26951490)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: IEA. (OMIM:607944)
- 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:2918547)
- Autoimmune thrombocytopenia (HP:0001973): The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. Evidence: PCS. Frequency: 12/26. (PMID:26951490)
- Spasticity (HP:0001257): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: PCS. Frequency: 11/25. (PMID:26951490)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: IEA. (OMIM:607944)
- Hypermelanotic macule (HP:0001034): A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. Evidence: IEA. (OMIM:607944)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: PCS. (PMID:26951490)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/4. (PMID:2918547)
- Metaphyseal widening (HP:0003016): Abnormal widening of the metaphyseal regions of long bones. Evidence: PCS. Frequency: 4/4. (PMID:2918547)
- Barrel-shaped chest (HP:0001552): A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis. Evidence: PCS. Frequency: 2/4. (PMID:2918547)
- Narrow nose (HP:0000460): Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae. Evidence: TAS. (OMIM:607944)
- Turricephaly (HP:0000262): Tall head relative to width and length. Evidence: PCS. Frequency: 1/4. (PMID:2918547)
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: PCS. Frequency: 21/22. (PMID:26951490)
- Purpura (HP:0000979): Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. Evidence: IEA. (OMIM:607944)
- Short iliac bones (HP:0100866): Underdevelopment of the iliac bones. Evidence: PCS. Frequency: 3/4. (PMID:2918547)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: IEA. (OMIM:607944)
- Immune dysregulation (HP:0002958): Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications. Evidence: PCS. (PMID:26951490)
- Metaphyseal sclerosis (HP:0004979): Abnormally increased density of metaphyseal bone. Evidence: TAS. (OMIM:607944)
- Cerebral calcification (HP:0002514): The presence of calcium deposition within the cerebrum. Evidence: PCS. Frequency: 9/14. (PMID:26951490)
- Progressive spastic quadriplegia (HP:0002478). Evidence: TAS. (OMIM:607944)
- Vitiligo (HP:0001045). Evidence: IEA. (OMIM:607944)
- Decreased total T cell count (HP:0005403): Abnormal decrease in the absolute number of T cells, commonly characterized as CD3+ lymphocytes, per microliter of blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells. Evidence: IEA. (OMIM:607944)
- Irregular vertebral endplates (HP:0003301): An irregular surface of the vertebral end plates, which are normally relatively smooth. Evidence: IEA. (OMIM:607944)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: IEA. (OMIM:607944)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/4. (PMID:2918547)
- Sclerosis of skull base (HP:0002694): Increased bone density of the skull base without significant changes in bony contour. Evidence: PCS. Frequency: 1/4. (PMID:2918547)
- Metaphyseal irregularity (HP:0003025): Irregularity of the normally smooth surface of the metaphyses. Evidence: TAS. (OMIM:607944)
- Increased intervertebral space (HP:0030320): An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space. Evidence: PCS. Frequency: 2/4. (PMID:2918547)
- Raynaud phenomenon (HP:0030880). Evidence: PCS. Frequency: 6/51. (PMID:26951490)
- Juvenile rheumatoid arthritis (HP:0005681). Evidence: IEA. (OMIM:607944)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: IEA. (OMIM:607944)
- Restrictive ventilatory defect (HP:0002091): A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. Evidence: IEA. (OMIM:607944)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: TAS. (OMIM:607944)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: IEA. (OMIM:607944)
- Systemic lupus erythematosus (HP:0002725): A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. Evidence: PCS. Frequency: 7/26. (PMID:26951490)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 3/25. (PMID:26951490)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Frequency: 1/4. (PMID:2918547)
- Decreased total neutrophil count (HP:0001875): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 3/8. (PMID:26951490)