{"Name":"Diabetes mellitus, transient neonatal, 1","DiseaseID__c":"GARD:0001839","id":1839,"encodedName":"diabetes-mellitus-transient-neonatal-1","IsDeleted":false,"Disease_Name_Full__c":"Diabetes mellitus, transient neonatal, 1","Xref_IDs__c":"609579009; C131846; C1832386; C563322; DOID:0061173; MEDGEN:371317; MONDO:0011073; OMIM:601410; ORPHA:99886","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"GARD:0001839","Disease_Description__c":"Transient neonatal diabetes mellitus (TNDB) is a type of diabetes that appears within the first few weeks of life but is transient; affected infants go into remission within a few months, with possible relapse to permanent diabetes in adolescence or adulthood. Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. Approximately 70% of cases are caused by the overactivity of certain genes in a region of the long (q) arm of chromosome 6 called 6q24. These cases are referred to as 6q24-related TNDB; most (but not all) of these cases are not inherited. Other genetic causes include genetic changes in the KCNJ11 and ABCC8 genes, which usually cause permanent neonatal diabetes.","GARD_Name__c":"Diabetes mellitus, transient neonatal, 1","GARD_Synonym__c":"diabetes mellitus, 6q24-related transient neonatal; diabetes mellitus, transient neonatal 1; diabetes mellitus, transient neonatal, type 1; tndm; tndm1","Curated_Disease_Description_Source__c":"GARD:0001839","Curated_Disease_Description__c":"6q24-related transient neonatal diabetes mellitus is a type of diabetes that occurs in infants. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. People with 6q24-related transient neonatal diabetes mellitus experience very slow growth before birth (severe intrauterine growth retardation). Affected infants have hyperglycemia and an excessive loss of fluids (dehydration), usually beginning in the first week of life. Signs and symptoms of this form of diabetes are transient, which means that they gradually lessen over time and generally disappear between the ages of 3 months and 18 months. Diabetes may recur, however, especially during childhood illnesses or pregnancy. Up to half of individuals with 6q24-related transient neonatal diabetes mellitus develop permanent diabetes mellitus later in life. Other features of 6q24-related transient neonatal diabetes mellitus that occur in some affected individuals include an unusually large tongue (macroglossia); a soft out-pouching around the belly-button (an umbilical hernia); malformations of the brain, heart, or kidneys; weak muscle tone (hypotonia); deafness; and developmental delay.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:99886","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011073","ORPHANET_ID__c":"ORPHA:99886","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Diabetes mellitus neonatal transitoria","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"diabetes mellitus neonatal transitoria","Spanish_GARD_Synonym__c":"tndm","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":"6q24-related transient neonatal diabetes mellitus is a type of diabetes that occurs in infants. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. People with 6q24-related transient neonatal diabetes mellitus experience very slow growth before birth (severe intrauterine growth retardation). Affected infants have hyperglycemia and an excessive loss of fluids (dehydration), usually beginning in the first week of life. Signs and symptoms of this form of diabetes are transient, which means that they gradually lessen over time and generally disappear between the ages of 3 months and 18 months. Diabetes may recur, however, especially during childhood illnesses or pregnancy. Up to half of individuals with 6q24-related transient neonatal diabetes mellitus develop permanent diabetes mellitus later in life. Other features of 6q24-related transient neonatal diabetes mellitus that occur in some affected individuals include an unusually large tongue (macroglossia); a soft out-pouching around the belly-button (an umbilical hernia); malformations of the brain, heart, or kidneys; weak muscle tone (hypotonia); deafness; and developmental delay.","Curated_Disease_Description_Source__c":"GARD:0001839","GARD_Synonym__c":"diabetes mellitus, 6q24-related transient neonatal; diabetes mellitus, transient neonatal 1; diabetes mellitus, transient neonatal, type 1; tndm; tndm1","Name":"Diabetes mellitus, transient neonatal, 1","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The National Center for Monogenic Diabetes at the University of Chicago","Website__c":"https://monogenicdiabetes.uchicago.edu/"}],"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":"Neonatal","Provided_By__c":"ORPHA:99886"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:99886"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001839","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1534","Source__c":"Gene Review","Xref__c":"NBK1534"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=371317","Source__c":"C1832386","Xref__c":"MEDGEN:371317"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832386","Source__c":"C1832386","Xref__c":"C1832386"},{"URL__c":"https://www.omim.org/entry/601410","Source__c":"C1832386; MONDO:0011073; ORPHA:99886","Xref__c":"OMIM:601410"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563322","Source__c":"MONDO:0011073","Xref__c":"C563322"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=609579009","Source__c":"C1832386; MONDO:0011073","Xref__c":"609579009"},{"URL__c":"https://www.orpha.net/en/disease/detail/99886","Source__c":"C1832386; MONDO:0011073","Xref__c":"ORPHA:99886"},{"URL__c":"https://medlineplus.gov/genetics/condition/6q24-related-transient-neonatal-diabetes-mellitus","Source__c":"GARD:0001839","Xref__c":"https://medlineplus.gov/genetics/condition/6q24-related-transient-neonatal-diabetes-mellitus"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011073","Source__c":"GARD:0001839","Xref__c":"MONDO:0011073"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131846","Source__c":"C1832386","Xref__c":"C131846"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0061173","Source__c":"MONDO:0011073","Xref__c":"DOID:0061173"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HYMAI","Gene_Type__c":"non-coding RNA","Causal_Gene__c":true},{"GeneSymbol__c":"ZFP57","GHR_URL__c":"https://medlineplus.gov/genetics/gene/zfp57","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PLAGL1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/plagl1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:99886","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001627","HPO_Synonym__c":"Abnormality of cardiac morphology; Abnormality of the heart; Abnormally shaped heart; Cardiac abnormality; Cardiac anomalies; Cardiac anomaly; Congenital heart defect; Congenital heart defects; Heart defect","HPO_Name__c":"Abnormal heart morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99886","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000707","HPO_Synonym__c":"Abnormality of the nervous system; Neurologic abnormalities; Neurological abnormality","HPO_Name__c":"Abnormality of the nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99886","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030057","HPO_Name__c":"Autoimmune antibody positivity","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:99886","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the urinary system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000079","HPO_Synonym__c":"Urinary tract abnormalities; Urinary tract abnormality; Urinary tract anomalies","HPO_Name__c":"Abnormality of the urinary system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99886","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008255","HPO_Name__c":"Transient neonatal diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99886","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000077","HPO_Synonym__c":"Abnormal kidney; Abnormality of the kidney; Renal anomalies; Renal anomaly","HPO_Name__c":"Abnormality of the kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99886","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001518","HPO_Synonym__c":"Birth weight less than 10th percentile; Low birth weight; Small for gestational age","HPO_Name__c":"Small for gestational age","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99886","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001944","HPO_Synonym__c":"Dehydration; Exsiccosis","HPO_Name__c":"Dehydration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99886","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99886","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of diabetic metabolic abnormality with an accumulation of ketone bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001953","HPO_Synonym__c":"Diabetic ketosis","HPO_Name__c":"Diabetic ketoacidosis","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:99886","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistance, and lack of evidence of autoimmune destruction of the beta cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004904","HPO_Synonym__c":"Maturity onset diabetes of the young","HPO_Name__c":"Maturity-onset diabetes of the young","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99886","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99886","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040064","HPO_Synonym__c":"Abnormal limbs; Abnormality of limbs; Limb anomaly","HPO_Name__c":"Abnormality of limbs","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99886","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99886","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001537","HPO_Synonym__c":"Umbilical hernias","HPO_Name__c":"Umbilical hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99886","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99886","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012758","HPO_Synonym__c":"NDD","HPO_Name__c":"Neurodevelopmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99886","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99886","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99886","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003074","HPO_Synonym__c":"High blood glucose; High blood sugar","HPO_Name__c":"Hyperglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:99886","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased concentration of insulin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040216","HPO_Name__c":"Hypoinsulinemia","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99886","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased length and width of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000158","HPO_Synonym__c":"Abnormally large tongue; Hyperplasia of the tongue; Hypertrophy of the tongue; Increased size of tongue; Large tongue; Tongue hypertrophy","HPO_Name__c":"Macroglossia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["diabetes mellitus, 6q24-related transient neonatal"," diabetes mellitus, transient neonatal 1"," diabetes mellitus, transient neonatal, type 1"," tndm"," tndm1"]}