eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| andersen syndrome | ||||
| Disease ID | 1101 |
|---|---|
| Disease | andersen syndrome |
| Definition | A form of long QT syndrome characterized by ventricular arrhythmia, muscle weakness, and developmental abnormalities which include micrognathia, low-set ears and deformities of the fingers. |
| Synonym | andersen cardiodysrhythmic periodic paralysis andersen cardiodysrythmic periodic paralysis andersen syndrome [disease/finding] andersen tawil syndrome andersen tawil syndrome (disorder) andersen-tawil syndrome long qt syndrome 7 periodic paralysis, potassium sensitive cardiodysrhythmic type periodic paralysis, potassium-sensitive cardiodysrhythmic type potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features syndrome, andersen syndrome, andersen tawil |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1563715 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:66) 9370 | ADIPOQ | 1.018 | DISEASES 186 | AGTR2 | 3.498 | DISEASES 57016 | AKR1B10 | 1.326 | DISEASES 287 | ANK2 | 1.948 | DISEASES 406 | ARNTL | 1.065 | DISEASES 728 | C5AR1 | 1.156 | DISEASES 8913 | CACNA1G | 1.574 | DISEASES 779 | CACNA1S | 2.608 | DISEASES 1081 | CGA | 1.975 | DISEASES 1120 | CHKB | 2.136 | DISEASES 1180 | CLCN1 | 1.693 | DISEASES 1269 | CNR2 | 2.552 | DISEASES 6900 | CNTN2 | 1.367 | DISEASES 8029 | CUBN | 1.438 | DISEASES 192668 | CYS1 | 1.739 | DISEASES 8694 | DGAT1 | 1.287 | DISEASES 1812 | DRD1 | 1.39 | DISEASES 1982 | EIF4G2 | 2.095 | DISEASES 2042 | EPHA3 | 1.587 | DISEASES 104355217 | ERICD | 1.151 | DISEASES 2248 | FGF3 | 1.492 | DISEASES 2550 | GABBR1 | 1.869 | DISEASES 2569 | GABRR1 | 2.543 | DISEASES 2570 | GABRR2 | 2.639 | DISEASES 200959 | GABRR3 | 2.761 | DISEASES 2959 | GTF2B | 1.933 | DISEASES 3039 | HBA1 | 1.065 | DISEASES 283902 | HCCAT5 | 2.705 | DISEASES 3055 | HCK | 1.046 | DISEASES 8518 | IKBKAP | 1.657 | DISEASES 3753 | KCNE1 | 1.934 | DISEASES 3768 | KCNJ12 | 3.362 | DISEASES 3762 | KCNJ5 | 3.2 | DISEASES 100144748 | KLLN | 2.684 | DISEASES 378805 | LINC-PINT | 1.866 | DISEASES 4158 | MC2R | 2.576 | DISEASES 23077 | MYCBP2 | 1.751 | DISEASES 4689 | NCF4 | 1.838 | DISEASES 23327 | NEDD4L | 1.491 | DISEASES 4772 | NFATC1 | 2.271 | DISEASES 4773 | NFATC2 | 2.88 | DISEASES 4776 | NFATC4 | 2.992 | DISEASES 9520 | NPEPPS | 1.584 | DISEASES 594857 | NPS | 1.4 | DISEASES 9315 | NREP | 3.03 | DISEASES 4976 | OPA1 | 1.6 | DISEASES 5132 | PDC | 1.668 | DISEASES 56342 | PPAN | 1.825 | DISEASES 5573 | PRKAR1A | 1.137 | DISEASES 5817 | PVR | 3.906 | DISEASES 253260 | RICTOR | 1.267 | DISEASES 196475 | RMST | 2.775 | DISEASES 23322 | RPGRIP1L | 1.796 | DISEASES 6262 | RYR2 | 2.474 | DISEASES 404552 | SCGB1D4 | 1.406 | DISEASES 6329 | SCN4A | 2.964 | DISEASES 6331 | SCN5A | 2.932 | DISEASES 145264 | SERPINA12 | 1.199 | DISEASES 462 | SERPINC1 | 2.141 | DISEASES 4093 | SMAD9 | 2.286 | DISEASES 342898 | SYCN | 2.542 | DISEASES 1678 | TIMM8A | 1.677 | DISEASES 7156 | TOP3A | 1.387 | DISEASES 7177 | TPSAB1 | 2.627 | DISEASES 7433 | VIPR1 | 1.52 | DISEASES 7514 | XPO1 | 1.107 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1101 |
|---|---|
| Disease | andersen syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:45) HP:0010049 | Metacarpal hypoplasia HP:0000677 | Failure of development of more than six teeth HP:0001507 | Abnormal growth HP:0004467 | Pit in front of the ear HP:0006335 | Delayed loss of primary teeth HP:0000581 | Blepharophimosis HP:0001770 | Toe syndactyly HP:0000316 | Increased distance between eye sockets HP:0000696 | Delayed eruption of secondary dentition HP:0006297 | Hypoplasia of tooth enamel HP:0005478 | Large frontal sinus HP:0004209 | Clinodactyly of fifth digit HP:0000369 | Low-set ears HP:0004279 | Hypoplastic hands HP:0003779 | Antegonial notching of mandible HP:0000175 | Palatoschisis HP:0001864 | Clinodactyly of the 5th toe HP:0003778 | Short mandibular rami HP:0000324 | Asymmetry of face HP:0000252 | Small head circumference HP:0000327 | Maxillary micrognathia HP:0000218 | Increased palatal height HP:0012745 | Decreased height of palpebral fissure HP:0001279 | Syncope HP:0002750 | Delayed bone maturation HP:0001657 | Prolonged QT interval HP:0001388 | Joint laxity HP:0002650 | Scoliosis HP:0000337 | Increased bitemporal dimension HP:0200055 | Small hand HP:0008153 | Hypokalemic periodic paresis HP:0001962 | Palpitations HP:0003100 | Slender long bone HP:0000272 | Depressed malar region HP:0009803 | Hypoplastic/small phalanges of the hand HP:0000219 | Decreased height of upper lip vermilion HP:0010743 | Shortened metatarsals HP:0001773 | Small feet HP:0000716 | Depression HP:0001328 | Specific learning disability HP:0000325 | Triangular face HP:0003691 | Scapula alata HP:0000414 | Bulbous nose HP:0001156 | Brachydactyly HP:0005147 | Bidirectional ventricular ectopy |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) |
| Disease ID | 1101 |
|---|---|
| Disease | andersen syndrome |
| 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:20) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894575 | NA | 3759 | KCNJ2 | umls:C1563715 | CLINVAR | NA | 0.509103869 | NA | KCNJ2 | 17 | 70175251 | A | T |
| rs104894578 | NA | 3759 | KCNJ2 | umls:C1563715 | CLINVAR | NA | 0.509103869 | NA | KCNJ2 | 17 | 70175691 | C | T |
| rs104894578 | 25415519 | 3759 | KCNJ2 | umls:C1563715 | BeFree | Genetic testing revealed a de novo heterozygous mutation (R218W) in KCNJ2 associated with ATS. | 0.509103869 | 2015 | KCNJ2 | 17 | 70175691 | C | T |
| rs104894579 | NA | 3759 | KCNJ2 | umls:C1563715 | CLINVAR | NA | 0.509103869 | NA | KCNJ2 | 17 | 70175938 | G | A,C,T |
| rs104894580 | NA | 3759 | KCNJ2 | umls:C1563715 | CLINVAR | NA | 0.509103869 | NA | KCNJ2 | 17 | 70175238 | C | A,T |
| rs104894581 | NA | 3759 | KCNJ2 | umls:C1563715 | CLINVAR | NA | 0.509103869 | NA | KCNJ2 | 17 | 70175596 | C | T |
| rs104894582 | 17166852 | 3759 | KCNJ2 | umls:C1563715 | BeFree | An andersen-Tawil syndrome mutation in Kir2.1 (V302M) alters the G-loop cytoplasmic K+ conduction pathway. | 0.509103869 | 2007 | KCNJ2 | 17 | 70175943 | G | A |
| rs104894582 | NA | 3759 | KCNJ2 | umls:C1563715 | CLINVAR | NA | 0.509103869 | NA | KCNJ2 | 17 | 70175943 | G | A |
| rs104894583 | NA | 3759 | KCNJ2 | umls:C1563715 | CLINVAR | NA | 0.509103869 | NA | KCNJ2 | 17 | 70175685 | A | C |
| rs104894585 | 17582433 | 3759 | KCNJ2 | umls:C1563715 | BeFree | T75M-KCNJ2 mutation causing Andersen-Tawil syndrome enhances inward rectification by changing Mg2+ sensitivity. | 0.509103869 | 2007 | KCNJ2 | 17 | 70175263 | C | G,T |
| rs104894585 | NA | 3759 | KCNJ2 | umls:C1563715 | CLINVAR | NA | 0.509103869 | NA | KCNJ2 | 17 | 70175263 | C | G,T |
| rs199473371 | NA | 3759 | KCNJ2 | umls:C1563715 | CLINVAR | NA | 0.509103869 | NA | KCNJ2 | 17 | 70175272 | A | G |
| rs199473384 | NA | 3759 | KCNJ2 | umls:C1563715 | CLINVAR | NA | 0.509103869 | NA | KCNJ2 | 17 | 70175692 | G | A |
| rs199473387 | NA | 3759 | KCNJ2 | umls:C1563715 | CLINVAR | NA | 0.509103869 | NA | KCNJ2 | 17 | 70175952 | A | C,G |
| rs199473650 | NA | 3759 | KCNJ2 | umls:C1563715 | CLINVAR | NA | 0.509103869 | NA | KCNJ2 | 17 | 70175200 | G | T |
| rs199830292 | NA | 3762 | KCNJ5 | umls:C1563715 | CLINVAR | NA | 0.240271442 | NA | KCNJ5 | 11 | 128916630 | G | C |
| rs367560052 | NA | 3759 | KCNJ2 | umls:C1563715 | CLINVAR | NA | 0.509103869 | NA | KCNJ2 | 17 | 70175992 | A | G |
| rs387906778 | NA | 3762 | KCNJ5 | umls:C1563715 | CLINVAR | NA | 0.240271442 | NA | KCNJ5 | 11 | 128911745 | A | G |
| rs797044841 | NA | 3759 | KCNJ2 | umls:C1563715 | CLINVAR | NA | 0.509103869 | NA | KCNJ2 | 17 | 70175310 | GCTTTCGTCCTG | - |
| rs797044842 | NA | 3759 | KCNJ2 | umls:C1563715 | CLINVAR | NA | 0.509103869 | NA | KCNJ2 | 17 | 70176005 | G | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:20) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001328 | Specific learning disability | MP:0002802 | abnormal discrimination learning | anomaly in the ability to exhibit a differential response to different stimuli that is achieved by the reinforcement of the desired response for each particular stimulus |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0003779 | Antegonial notching of mandible | 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:0001773 | Short foot | MP:0008138 | absent podocyte foot process | absence of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries |
| HP:0006335 | Persistence of primary teeth | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0000218 | High palate | MP:0011615 | submucous cleft palate | a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate |
| HP:0006297 | Hypoplasia of dental enamel | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0009803 | Short phalanx of finger | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0004209 | Clinodactyly of the 5th finger | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0003100 | Slender long bone | MP:0013624 | decreased femur compact bone thickness | reduced width of the superficial layer of compact bone at the midpoint of the femur |
| HP:0000696 | Delayed eruption of permanent teeth | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0000219 | Thin upper lip vermilion | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0010743 | Short metatarsal | MP:0004635 | short metatarsal bones | reduced length of the five bones of the hindpaws that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges |
| HP:0000325 | Triangular face | MP:0012546 | triangular face | a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia |
| HP:0010049 | Short metacarpal | MP:0004634 | short metacarpal bones | reduced length of the five bones of the forepaws that articulate proximally with the carpal bones and distally with the phalanges |
| HP:0004467 | Preauricular pit | MP:0006306 | abnormal nasal pit morphology | any structural anomaly of one or both of a pair of depressions formed in the developing face that give rise to the rostral portion of the nasal meatus; the nasal pits indent the fronto-nasal process and divide it into a medial and two lateral nasal proces |
| HP:0000327 | Hypoplasia of the maxilla | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0001657 | Prolonged QT interval | MP:0003900 | shortened QT interval | decrease in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time, and is measured from the beginning of the QRS complex to the end of the T wave |
| HP:0001770 | Toe syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0002750 | Delayed skeletal maturation | MP:0003379 | absent sexual maturation | failure to initiate pubertal changes that result in achievement of full sexual capacity |
Mapped by homologous gene(Total Items:45) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000327 | Hypoplasia of the maxilla | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0005147 | Bidirectional ventricular ectopy | MP:0011087 | neonatal lethality, complete penetrance | death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0) |
| HP:0010743 | Short metatarsal | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000325 | Triangular face | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000219 | Thin upper lip vermilion | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0200055 | Small hand | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001773 | Short foot | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0003691 | Scapular winging | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000677 | Oligodontia | MP:0014166 | ectopic cranial bone | the appearance of an extra bone structure at an atypical location in or near the cranium |
| HP:0006297 | Hypoplasia of dental enamel | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001657 | Prolonged QT interval | 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:0006335 | Persistence of primary teeth | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0010049 | Short metacarpal | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001962 | Palpitations | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003100 | Slender long bone | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000324 | Facial asymmetry | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000316 | Hypertelorism | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0005478 | Prominent frontal sinuses | MP:0011087 | neonatal lethality, complete penetrance | death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0) |
| HP:0001770 | Toe syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000581 | Blepharophimosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000696 | Delayed eruption of permanent teeth | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0000337 | Broad forehead | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001156 | Brachydactyly syndrome | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001328 | Specific learning disability | 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:0001279 | Syncope | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001388 | Joint laxity | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000175 | Cleft palate | 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:0003778 | Short mandibular rami | MP:0011087 | neonatal lethality, complete penetrance | death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0) |
| HP:0003779 | Antegonial notching of mandible | MP:0012253 | abnormal intersomitic vessel morphology | any structural anomaly of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites |
| HP:0004279 | Short palm | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001507 | Growth abnormality | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000218 | High palate | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000272 | Malar flattening | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001864 | Clinodactyly of the 5th toe | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0004209 | Clinodactyly of the 5th finger | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000414 | Bulbous nose | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0012745 | Short palpebral fissure | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002750 | Delayed skeletal maturation | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000369 | Low-set ears | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0008153 | Periodic hypokalemic paresis | MP:0012551 | metabolic acidosis | decreased pH and bicarbonate concentration in tissues and/or body fluids caused when the body produces too much acid or when the kidneys are not removing enough acid from the body, as in diarrhea or in kidney disease |
| HP:0000252 | Microcephaly | 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:0004467 | Preauricular pit | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009803 | Short phalanx of finger | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 1101 |
|---|---|
| Disease | andersen syndrome |
| Case | (Waiting for update.) |