Phenotypes associated with the disease Seckel syndrome 10 (OMIM:617253):
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: PCS. Frequency: 2/2. (PMID:25105364)
- Severe short stature (HP:0003510): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: PCS. Frequency: 2/2. (PMID:25105364)
- Metaphyseal widening (HP:0003016): Abnormal widening of the metaphyseal regions of long bones. Evidence: TAS. (OMIM:617253)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: PCS. Frequency: 1/2. Onset: Congenital onset (HP:0003577). (PMID:25105364)
- Abdominal aortic aneurysm (HP:0005112): An abnormal localized widening (dilatation) of the abdominal aorta. Evidence: TAS. (OMIM:617253)
- Skin tags (HP:0010609): Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region. Evidence: TAS. (OMIM:617253)
- Glycosuria (HP:0003076): An increased concentration of glucose in the urine. Evidence: TAS. (OMIM:617253)
- Elevated circulating alanine aminotransferase concentration (HP:0031964): An abnormally high concentration in the circulation of alanine aminotransferase (ALT). Evidence: IEA. (OMIM:617253)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: IEA. (OMIM:617253)
- Hyperplasia of midface (HP:0012371): Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face. Evidence: PCS. Frequency: 2/2. (PMID:25105364)
- Elevated circulating follicle stimulating hormone level (HP:0008232): An elevated concentration of follicle-stimulating hormone in the blood. Evidence: TAS. (OMIM:617253)
- Insulin resistance (HP:0000855): Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. Evidence: PCS. Frequency: 2/2. (PMID:25105364)
- Acanthosis nigricans (HP:0000956): A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. Evidence: PCS. (PMID:25105364)
- Elevated hemoglobin A1c (HP:0040217): An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements. Evidence: IEA. (OMIM:617253)
- Elevated circulating aspartate aminotransferase concentration (HP:0031956): The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal. Evidence: IEA. (OMIM:617253)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. (OMIM:617253)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: PCS. Frequency: 2/2. Onset: Childhood onset (HP:0011463). (PMID:25105364)
- Elevated circulating luteinizing hormone level (HP:0011969): An elevated concentration of luteinizing hormone in the blood. Evidence: TAS. (OMIM:617253)
- Slender long bone (HP:0003100): Reduced diameter of a long bone. Evidence: TAS. (OMIM:617253)
- Impaired glucose tolerance (HP:0040270): An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose. Evidence: IEA. (OMIM:617253)
- Cone-shaped epiphysis (HP:0010579): Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. Evidence: TAS. (OMIM:617253)
- Microretrognathia (HP:0000308): A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly. Evidence: PCS. Frequency: 2/2. (PMID:25105364)
- Acute pancreatitis (HP:0001735): A acute form of pancreatitis. Evidence: TAS. (OMIM:617253)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: TAS. (OMIM:617253)
- 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:25105364)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: TAS. (OMIM:617253)
- Ventricular hypertrophy (HP:0001714): Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy. Evidence: TAS. (OMIM:617253)
- Glucose intolerance (HP:0001952): Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). Evidence: TAS. (OMIM:617253)