Phenotypes associated with the disease Bloom syndrome (ORPHA:125):
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:125)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:125)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:125)
- Abnormality of the immune system (HP:0002715): An abnormality of the immune system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:125)
- Decreased circulating immunoglobulin concentration (HP:0004313): An abnormally decreased level of immunoglobulin in blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:125)
- Severe postnatal growth retardation (HP:0008850): Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:125)
- Adipose tissue loss (HP:0008887): A reduction in the amount of adipose tissue (fat) compared with the amount previously present in an individual. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:125)
- Malar flattening (HP:0000272): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:125)
- Narrow face (HP:0000275): Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:125)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:125)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:125)
- Otitis media (HP:0000388): Inflammation or infection of the middle ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:125)
- Insulin resistance (HP:0000855): Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:125)
- Cafe-au-lait spot (HP:0000957): Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:125)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:125)
- Cutaneous photosensitivity (HP:0000992): An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:125)
- Hypopigmentation of the skin (HP:0001010): A reduction of skin color related to a decrease in melanin production and deposition. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:125)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:125)
- Neoplasm (HP:0002664): An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:125)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:125)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:125)
- Decreased circulating IgM concentration (HP:0002850): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:125)
- Male infertility (HP:0003251). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:125)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:125)
- Poor appetite (HP:0004396): A reduced desire to eat. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:125)
- Premature ovarian insufficiency (HP:0008209): Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:125)
- Abnormal total CD8+ T cell number (HP:0031393): Abnormal increase or decrease of the absolute number of cytotoxic CD3+CD8+ T cells (measured the absolute count per volume or as percentage of total CD3+ T cells in the blood), compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:125)
- Decreased total CD4+ T cell proportion (HP:0032218): Abnormal decrease of helper CD3+CD4+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:125)
- Decreased head circumference (HP:0040195): An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:125)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Azoospermia (HP:0000027): Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Uveitis (HP:0000554): Inflammation of one or all portions of the uveal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Sparse eyelashes (HP:0000653): Decreased density/number of eyelashes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Oligozoospermia (HP:0000798): Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Poikiloderma (HP:0001029): Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Paronychia (HP:0001818): The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Patchy alopecia (HP:0002232): Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Lymphoma (HP:0002665): A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Myelodysplasia (HP:0002863): Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Acute myeloid leukemia (HP:0004808): A form of leukemia characterized by overproduction of an early myeloid cell. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Recurrent herpes (HP:0005353): Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Chronic pulmonary obstruction (HP:0006510): An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Acute lymphoblastic leukemia (HP:0006721): A form of acute leukemia characterized by excess lympoblasts. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Malignant genitourinary tract tumor (HP:0006758): The presence of a malignant neoplasm of the genital system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Abnormal blistering of the skin (HP:0008066): The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Neoplasm of the skin (HP:0008069): A tumor (abnormal growth of tissue) of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Recurrent tonsillitis (HP:0011110): Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Gastrostomy tube feeding in infancy (HP:0011471): Feeding problem necessitating gastrostomy tube feeding. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Respiratory tract infection (HP:0011947): An infection of the upper or lower respiratory tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Rhinitis (HP:0012384): Inflammation of the nasal mucosa with nasal congestion. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Bronchitis (HP:0012387): Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Abdominal obesity (HP:0012743): Excessive fat around the stomach and abdomen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Severe Toxoplasma infection (HP:0020105): Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Abscess (HP:0025615): An abscess is a localized collection of purulent material surrounded by inflammation and granulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Recurrent gastroenteritis (HP:0031123): Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Severe varicella zoster infection (HP:0032170): An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestations including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Neoplasm of the breast (HP:0100013): A tumor (abnormal growth of tissue) of the breast. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Neoplasm of the colon (HP:0100273). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Cheilitis (HP:0100825): Inflammation of the lip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:125)
- Retinopathy (HP:0000488): Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:125)
- Nephroblastoma (HP:0002667): The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:125)
- Respiratory failure (HP:0002878): A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:125)
- Stomach cancer (HP:0012126): A cancer arising in any part of the stomach. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:125)
- Esophageal neoplasm (HP:0100751): A tumor (abnormal growth of tissue) of the esophagus. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:125)