eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| transient neonatal diabetes mellitus | ||||
| Disease ID | 1508 |
|---|---|
| Disease | transient neonatal diabetes mellitus |
| Definition | Hyperglycemia in the first month of life due to a genetically determined defect in the structure, secretion and/or function of insulin that resolves spontaneously within nine months of onset.(NICHD) |
| Synonym | transitory neonatal diabetes mellitus transitory neonatal diabetes mellitus (disorder) |
| Orphanet | |
| DOID | |
| UMLS | C0342273 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:40) 6833 | ABCC8 | 4.988 | DISEASES 116 | ADCYAP1 | 1.21 | DISEASES 10189 | ALYREF | 2.202 | DISEASES 1028 | CDKN1C | 1.98 | DISEASES 9077 | DIRAS3 | 2.046 | DISEASES 50943 | FOXP3 | 1.245 | DISEASES 2641 | GCG | 1.148 | DISEASES 169792 | GLIS3 | 2.069 | DISEASES 2778 | GNAS | 2.192 | DISEASES 149775 | GNAS-AS1 | 4.158 | DISEASES 2887 | GRB10 | 2.931 | DISEASES 3033 | HADH | 1.565 | DISEASES 3118 | HLA-DQA2 | 1.502 | DISEASES 57061 | HYMAI | 6.803 | DISEASES 3481 | IGF2 | 1.785 | DISEASES 3482 | IGF2R | 2.244 | DISEASES 3767 | KCNJ11 | 5.481 | DISEASES 10984 | KCNQ1OT1 | 4.041 | DISEASES 154288 | KHDC3L | 3.165 | DISEASES 3908 | LAMA2 | 1.244 | DISEASES 79104 | MEG8 | 1.444 | DISEASES 55655 | NLRP2 | 3.495 | DISEASES 199713 | NLRP7 | 3.338 | DISEASES 5078 | PAX4 | 1.587 | DISEASES 3651 | PDX1 | 2.461 | DISEASES 5178 | PEG3 | 3.043 | DISEASES 5324 | PLAG1 | 2.775 | DISEASES 5325 | PLAGL1 | 6.551 | DISEASES 10848 | PPP1R13L | 2.119 | DISEASES 256297 | PTF1A | 2.852 | DISEASES 5923 | RASGRF1 | 3.282 | DISEASES 388015 | RTL1 | 2.654 | DISEASES 8910 | SGCE | 1.547 | DISEASES 10864 | SLC22A7 | 2.174 | DISEASES 6514 | SLC2A2 | 2.335 | DISEASES 9126 | SMC3 | 2.044 | DISEASES 8676 | STX11 | 2.195 | DISEASES 23345 | SYNE1 | 1.788 | DISEASES 162239 | ZFP1 | 2.754 | DISEASES 346171 | ZFP57 | 6.527 | DISEASES |
| Locus | Symbol | Locus(Total Locus:5) |
| Disease ID | 1508 |
|---|---|
| Disease | transient neonatal diabetes mellitus |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:31) HP:0001263 | Global developmental delay HP:0002186 | Apraxia HP:0005487 | Prominent metopic ridge HP:0000365 | Hearing impairment HP:0001824 | Weight loss HP:0010935 | Abnormality of the upper urinary tract HP:0006476 | Abnormality of the pancreatic islet cells HP:0000124 | Renal tubular dysfunction HP:0001627 | Abnormal heart morphology HP:0001270 | Motor delay HP:0003074 | Hyperglycemia HP:0002919 | Ketonuria HP:0001488 | Bilateral ptosis HP:0001944 | Dehydration HP:0001511 | Intrauterine growth retardation HP:0002804 | Arthrogryposis multiplex congenita HP:0002714 | Downturned corners of mouth HP:0001250 | Seizures HP:0005750 | Contractures of the joints of the lower limbs HP:0001259 | Coma HP:0011106 | Hypovolemia HP:0008255 | Transient neonatal diabetes mellitus HP:0003076 | Glycosuria HP:0001508 | Failure to thrive HP:0002069 | Generalized tonic-clonic seizures HP:0030057 | Autoimmune antibody positivity HP:0001249 | Intellectual disability HP:0002570 | Steatorrhea HP:0012758 | Neurodevelopmental delay HP:0001252 | Muscular hypotonia HP:0002123 | Generalized myoclonic seizures |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1508 |
|---|---|
| Disease | transient neonatal diabetes mellitus |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002714 | Downturned corners of mouth | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0001627 | Abnormal heart morphology | MP:0004251 | failure of heart looping | failure of the primitive heart tube to loop asymmetrically during early development |
| HP:0002069 | Generalized tonic-clonic seizures | MP:0003997 | tonic-clonic seizures | increased number or decreased threshold for the induction of a seizure characterized by initial rigidity followed by rhythmic jerking movements |
| HP:0001511 | Intrauterine growth retardation | MP:0011109 | lethality throughout fetal growth and development, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| HP:0002123 | Generalized myoclonic seizures | MP:0009358 | environmentally induced seizures | seizure activity response due to changes in ambient habitat including room temperature, lighting, sounds, touching, and/ or moving cage |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0005750 | Contractures of the joints of the lower limbs | MP:0010919 | increased number of pulmonary neuroendocrine bodies | greater number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the air |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0008255 | Transient neonatal diabetes mellitus | MP:0011088 | neonatal lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0) |
| HP:0010935 | Abnormality of the upper urinary tract | MP:0009886 | failure of palatal shelf elevation | the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:27) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002123 | Generalized myoclonic seizures | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0001944 | Dehydration | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001259 | Coma | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0002570 | Steatorrhea | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001627 | Abnormal heart morphology | MP:0012159 | absent anterior visceral endoderm | absence of the extraembryonic tissue that is responsible for the proper orientation of the anterior-posterior axis of the embryo and for appropriate patterning of adjacent embryonic tissue |
| HP:0005750 | Contractures of the joints of the lower limbs | MP:0013241 | embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
| HP:0002714 | Downturned corners of mouth | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0001511 | Intrauterine growth retardation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0008255 | Transient neonatal diabetes mellitus | MP:0011109 | lethality throughout fetal growth and development, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| HP:0002804 | Arthrogryposis multiplex congenita | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010935 | Abnormality of the upper urinary tract | MP:0013389 | Meibomian gland hypoplasia | underdevelopment or reduced size of the meibum-secreting modified lobulated sebaceous glands located at the rim of the eyelids inside the tarsal plate, usually due to a reduced number of cells |
| HP:0003076 | Glycosuria | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0000124 | Renal tubular dysfunction | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001263 | Global developmental delay | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002069 | Generalized tonic-clonic seizures | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0002919 | Ketonuria | MP:0013404 | decreased circulating lactate level | reduced amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001270 | Motor delay | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001488 | Bilateral ptosis | MP:0013023 | decreased Ly6C high monocyte number | decrease in the number of monocytes that express high levels of Ly6C and low MHC class II that represent a subset of circulating inflammatory monocytes that are recruited to infected or inflamed tissues |
| HP:0005487 | Prominent metopic ridge | MP:0014125 | decreased amylin secretion | reduction in the production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiety a |
| HP:0003074 | Hyperglycemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002186 | Apraxia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 1508 |
|---|---|
| Disease | transient neonatal diabetes mellitus |
| Case | (Waiting for update.) |