{"Name":"Thyroid hormone metabolism, abnormal 1","DiseaseID__c":"GARD:0017068","id":17068,"encodedName":"thyroid-hormone-metabolism-abnormal-1","IsDeleted":false,"Disease_Name_Full__c":"Thyroid hormone metabolism, abnormal 1","Xref_IDs__c":"C566454; C5676891; MEDGEN:1801974; MONDO:0800046; OMIM:609698; ORPHA:171706","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0800046","Disease_Description__c":"Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.","GARD_Name__c":"Thyroid hormone metabolism, abnormal 1","GARD_Synonym__c":"short stature-delayed bone age due to thyroid hormone metabolism deficiency; thma1","Curated_Disease_Description_Source__c":"MONDO:0800046","Curated_Disease_Description__c":"Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:171706","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0800046","ORPHANET_ID__c":"ORPHA:171706","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Talla baja-retraso en la edad ósea por deficiencia en el metabolismo de hormonas tiroideas","Spanish_Description_Source__c":"ORPHA:171706","Spanish_Description__c":"La talla baja-retraso en la edad ósea por deficiencia del metabolismo de las hormonas tiroideas es un trastorno congénito de hipotiroidismo, genético y poco frecuente, que se caracteriza por un leve retraso generalizado del desarrollo en la infancia, baja estatura, edad ósea retrasada, anomalías tiroideas y niveles de selenio en suero anómalos (concentraciones elevadas de T4 total y libre, bajas de T3, elevados de T3 reversa, TSH normal o elevada, concentraciones bajas de selenio). También se ha descrito discapacidad intelectual, infertilidad primaria, hipotonía, debilidad muscular y problemas auditivos.","Spanish_Disease_Name__c":"talla baja-retraso en la edad ósea por deficiencia en el metabolismo de hormonas tiroideas","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97978","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.","Curated_Disease_Description_Source__c":"MONDO:0800046","GARD_Synonym__c":"short stature-delayed bone age due to thyroid hormone metabolism deficiency; thma1","Name":"Thyroid hormone metabolism, abnormal 1","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:171706"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:171706"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566454","Source__c":"MONDO:0800046","Xref__c":"C566454"},{"URL__c":"https://www.omim.org/entry/609698","Source__c":"C5676891; MONDO:0800046","Xref__c":"OMIM:609698"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1801974","Source__c":"C5676891","Xref__c":"MEDGEN:1801974"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5676891","Source__c":"C5676891","Xref__c":"C5676891"},{"URL__c":"https://www.orpha.net/en/disease/detail/171706","Source__c":"C5676891; MONDO:0800046","Xref__c":"ORPHA:171706"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0800046","Source__c":"GARD:0017068","Xref__c":"MONDO:0800046"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SECISBP2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:171706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003391","HPO_Synonym__c":"Gower sign; Positive Gower sign; Positive Gowers sign","HPO_Name__c":"Gowers sign","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171706","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002925","HPO_Synonym__c":"Elevated thyroid stimulating hormone; Elevated thyroid stimulating hormone levels; High TSH; Increased serum thyroid-stimulating hormone; Increased thyroid-stimulating hormone; Increased thyroid-stimulating hormone level; Increased thyrotropin level; Thyroid-stimulating hormone excess; TSH excess","HPO_Name__c":"Elevated circulating thyroid-stimulating hormone concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of substantial excess body fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001513","HPO_Synonym__c":"Having too much body fat; Obesity","HPO_Name__c":"Obesity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of the distal musculature of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009053","HPO_Synonym__c":"Distal muscle weakness in lower limbs; Muscle weakness, lower limb, distal","HPO_Name__c":"Distal lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced attention span characterized by distractibility and impulsivity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000736","HPO_Synonym__c":"Easily distracted; Easy distractibility; High distractibility; Poor attention span; Problem paying attention; Short attention span","HPO_Name__c":"Short attention span","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171706","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031506","HPO_Synonym__c":"Increased circulating T4 level; Increased circulating thyroxine level","HPO_Name__c":"Increased circulating T4 concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002750","HPO_Synonym__c":"Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation","HPO_Name__c":"Delayed skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal concentration of insulin in the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040214","HPO_Synonym__c":"Abnormal insulin level","HPO_Name__c":"Abnormal circulating insulin concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012548","HPO_Synonym__c":"Skeletal muscle fatty infiltration","HPO_Name__c":"Fatty replacement of skeletal muscle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008994","HPO_Synonym__c":"Muscle weakness, proximal, lower limbs; Proximal muscle weakness in lower limbs","HPO_Name__c":"Proximal lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171706","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012379","HPO_Name__c":"Abnormal circulating enzyme concentration or activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:171706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003162","HPO_Synonym__c":"Low blood sugar when fasting","HPO_Name__c":"Fasting hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:171706","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032210","HPO_Synonym__c":"Decreased circulating free triiodothyronine","HPO_Name__c":"Decreased circulating free T3","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:171706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal circulating concentration of selenium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031903","HPO_Synonym__c":"Abnormal serum selenium concentration","HPO_Name__c":"Abnormal circulating selenium concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:171706","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex 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 sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["short stature-delayed bone age due to thyroid hormone metabolism deficiency"," thma1"]}