eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| christianson syndrome | ||||
| Disease ID | 1320 |
|---|---|
| Disease | christianson syndrome |
| Synonym | angelman-like syndrome, x-linked intellectual deficit, x-linked, south african type mental retardation, microcephaly, epilepsy, and ataxia syndrome mental retardation, x-linked, syndromic, christianson type mrxsch x-linked intellectual deficit, south african type x-linked mental retardation syndrome, christianson type x-linked mental retardation syndrome, christianson type (disorder) |
| Orphanet | |
| OMIM | |
| UMLS | C2678194 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:12) 546 | ATRX | 1.993 | DISEASES 6792 | CDKL5 | 3.565 | DISEASES 79813 | EHMT1 | 3.224 | DISEASES 2290 | FOXG1 | 3.446 | DISEASES 55777 | MBD5 | 2.887 | DISEASES 4204 | MECP2 | 2.533 | DISEASES 4205 | MEF2A | 2.375 | DISEASES 4208 | MEF2C | 2.47 | DISEASES 10479 | SLC9A6 | 7.291 | DISEASES 84679 | SLC9A7 | 6.994 | DISEASES 7037 | TFRC | 1.228 | DISEASES 7337 | UBE3A | 2.139 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) SLC9A6 | Xq26.3 |
| Disease ID | 1320 |
|---|---|
| Disease | christianson syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:41) HP:0000639 | Nystagmus HP:0002015 | Dysphagia HP:0002119 | Ventriculomegaly HP:0001344 | Absent speech HP:0002376 | Developmental regression HP:0000366 | Abnormality of the nose HP:0000767 | Pectus excavatum HP:0002529 | Neuronal loss in central nervous system HP:0000602 | Ophthalmoplegia HP:0000490 | Deeply set eye HP:0007360 | Aplasia/Hypoplasia of the cerebellum HP:0007370 | Aplasia/Hypoplasia of the corpus callosum HP:0000303 | Mandibular prognathia HP:0100024 | Conspicuously happy disposition HP:0000276 | Long face HP:0000486 | Strabismus HP:0005692 | Joint hyperflexibility HP:0000733 | Stereotypy HP:0001332 | Dystonia HP:0002066 | Gait ataxia HP:0000574 | Thick eyebrow HP:0002120 | Cerebral cortical atrophy HP:0011344 | Severe global developmental delay HP:0002078 | Truncal ataxia HP:0002804 | Arthrogryposis multiplex congenita HP:0008872 | Feeding difficulties in infancy HP:0002020 | Gastroesophageal reflux HP:0003199 | Decreased muscle mass HP:0000275 | Narrow face HP:0000252 | Microcephaly HP:0001181 | Adducted thumb HP:0002300 | Mutism HP:0000717 | Autism HP:0004326 | Cachexia HP:0002187 | Intellectual disability, profound HP:0001272 | Cerebellar atrophy HP:0000400 | Macrotia HP:0000765 | Abnormality of the thorax HP:0100613 | Death in early adulthood HP:0000748 | Inappropriate laughter HP:0002197 | Generalized seizures |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1320 |
|---|---|
| Disease | christianson 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:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs122461162 | NA | 10479 | SLC9A6 | umls:C2678194 | CLINVAR | NA | 0.241628651 | NA | SLC9A6 | X | 136024365 | C | T |
| rs398122849 | NA | 10479 | SLC9A6 | umls:C2678194 | CLINVAR | NA | 0.241628651 | NA | SLC9A6 | X | 136010554 | GGTGCTGCT | - |
| rs398123003 | NA | 10479 | SLC9A6 | umls:C2678194 | CLINVAR | NA | 0.241628651 | NA | SLC9A6 | X | 136030154 | G | T |
| rs587784398 | NA | 10479 | SLC9A6 | umls:C2678194 | CLINVAR | NA | 0.241628651 | NA | SLC9A6 | X | 135985685 | G | - |
| rs587784399 | NA | 10479 | SLC9A6 | umls:C2678194 | CLINVAR | NA | 0.241628651 | NA | SLC9A6 | X | 136044696 | T | G |
| rs730882187 | NA | 10479 | SLC9A6 | umls:C2678194 | CLINVAR | NA | 0.241628651 | NA | NA | NA | NA | NA | NA |
| rs730882188 | NA | 10479 | SLC9A6 | umls:C2678194 | CLINVAR | NA | 0.241628651 | NA | SLC9A6 | X | 135998486 | AT | - |
| rs797044508 | NA | 10479 | SLC9A6 | umls:C2678194 | CLINVAR | NA | 0.241628651 | NA | SLC9A6 | X | 135998481 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:16) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001272 | Cerebellar atrophy | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0002529 | Neuronal loss in central nervous system | MP:0005499 | abnormal olfactory system morphology | any structural anomaly of the organs involved in smell |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| HP:0000733 | Stereotypic behavior | MP:0012312 | impaired avoidance learning behavior | impaired ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus |
| HP:0000276 | Long 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:0000366 | Abnormality of the nose | 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:0000490 | Deeply set eye | MP:0009829 | enlarged eye anterior chamber | increased size of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens |
| HP:0002066 | Gait ataxia | MP:0001393 | ataxia | inability to coordinate voluntary muscular movements |
| HP:0002120 | Cerebral cortical atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0000765 | Abnormality of the thorax | MP:0013620 | increased internal diameter of femur | increased 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:0007370 | Aplasia/Hypoplasia of the corpus callosum | 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:0002078 | Truncal ataxia | MP:0001393 | ataxia | inability to coordinate voluntary muscular movements |
| HP:0002197 | Generalized 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:0007360 | Aplasia/Hypoplasia of the cerebellum | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0011344 | Severe global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0003199 | Decreased muscle mass | MP:0009404 | centrally nucleated skeletal muscle fibers | cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy |
Mapped by homologous gene(Total Items:41) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002300 | Mutism | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0011344 | Severe global developmental delay | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001344 | Absent speech | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000602 | Ophthalmoplegia | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0002120 | Cerebral cortical atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000275 | Narrow face | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002187 | Intellectual disability, profound | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000303 | Mandibular prognathia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000486 | Strabismus | 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:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003199 | Decreased muscle mass | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002119 | Ventriculomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000717 | Autism | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001272 | Cerebellar atrophy | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0000276 | Long face | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0004326 | Cachexia | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0100024 | Conspicuously happy disposition | MP:0011098 | embryonic lethality during organogenesis, complete penetrance | death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0002078 | Truncal ataxia | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0000490 | Deeply set eye | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | 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:0002804 | Arthrogryposis multiplex congenita | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000765 | Abnormality of the thorax | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000574 | Thick eyebrow | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000767 | Pectus excavatum | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0100613 | Death in early adulthood | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0002376 | Developmental regression | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0002197 | Generalized seizures | MP:0013603 | abnormal fetal Leydig cell differentiation | atypical formation of or inability to produce the first or fetal population of Leydig cells (FLCs); in mice, FLCs arise in the testicular interstitium between E12.5 and E13.0, approximately 1 day after the appearance of Sertoli cells; Sertoli cells trigge |
| HP:0000748 | Inappropriate laughter | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0008872 | Feeding difficulties in infancy | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001332 | Dystonia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002020 | Gastroesophageal reflux | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0000639 | Nystagmus | 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:0000733 | Stereotypic behavior | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000366 | Abnormality of the nose | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002066 | Gait ataxia | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0001181 | Adducted thumb | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0000400 | Macrotia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0005692 | Joint hyperflexibility | MP:0012125 | decreased bronchoconstrictive response | reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography |
| 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:0002529 | Neuronal loss in central nervous system | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| Disease ID | 1320 |
|---|---|
| Disease | christianson syndrome |
| Case | (Waiting for update.) |