eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| megalencephaly-capillary malformation-polymicrogyria syndrome | ||||
| Disease ID | 1933 |
|---|---|
| Disease | megalencephaly-capillary malformation-polymicrogyria syndrome |
| Synonym | m-cm (macrocephaly-capillary malformation) macrocephaly cutis marmorata telangiectatica congenita macrocephaly-capillary malformation macrocephaly-capillary malformation (disorder) macrocephaly-cutis marmorata telangiectatica congenita megalencephaly cutis marmorata telangiectatica congenita megalencephaly-capillary malformation syndrome megalencephaly-capillary malformation syndrome (disorder) megalencephaly-cutis marmorata telangiectatica congenita megalocephaly cutis marmorata telangiectatica congenita |
| Orphanet | |
| OMIM | |
| UMLS | C1865285 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) PIK3CA | 3q26.32 |
| Disease ID | 1933 |
|---|---|
| Disease | megalencephaly-capillary malformation-polymicrogyria syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:35) HP:0100026 | Arteriovenous malformation HP:0001263 | Global developmental delay HP:0002119 | Ventriculomegaly HP:0100585 | Telangiectasia of the skin HP:0001770 | Toe syndactyly HP:0002637 | Cerebral ischemia HP:0100555 | Asymmetric growth HP:0005280 | Depressed nasal bridge HP:0000490 | Deeply set eye HP:0000965 | Cutis marmorata HP:0007360 | Aplasia/Hypoplasia of the cerebellum HP:0006101 | Finger syndactyly HP:0000154 | Wide mouth HP:0002007 | Frontal bossing HP:0002564 | Malformation of the heart and great vessels HP:0005692 | Joint hyperflexibility HP:0002308 | Arnold-Chiari malformation HP:0001829 | Foot polydactyly HP:0001052 | Nevus flammeus HP:0000324 | Facial asymmetry HP:0002664 | Neoplasm HP:0000256 | Macrocephaly HP:0000293 | Full cheeks HP:0011675 | Arrhythmia HP:0100761 | Visceral angiomatosis HP:0001508 | Failure to thrive HP:0000648 | Optic atrophy HP:0001249 | Intellectual disability HP:0000348 | High forehead HP:0002126 | Polymicrogyria HP:0001034 | Hypermelanotic macule HP:0001161 | Hand polydactyly HP:0012639 | Abnormality of nervous system morphology HP:0001252 | Muscular hypotonia HP:0000238 | Hydrocephalus |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1933 |
|---|---|
| Disease | megalencephaly-capillary malformation-polymicrogyria 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:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104886003 | NA | 5290 | PIK3CA | umls:C1865285 | CLINVAR | NA | 0.360271442 | NA | PIK3CA | 3 | 179218303 | G | A |
| rs121913281 | NA | 5290 | PIK3CA | umls:C1865285 | CLINVAR | NA | 0.360271442 | NA | PIK3CA | 3 | 179234296 | C | T |
| rs397514565 | NA | 5290 | PIK3CA | umls:C1865285 | CLINVAR | NA | 0.360271442 | NA | PIK3CA | 3 | 179204576 | G | A |
| rs587776932 | NA | 5290 | PIK3CA | umls:C1865285 | CLINVAR | NA | 0.360271442 | NA | PIK3CA | 3 | 179230077 | G | A |
| rs587776933 | NA | 5290 | PIK3CA | umls:C1865285 | CLINVAR | NA | 0.360271442 | NA | PIK3CA | 3 | 179210291 | GAA | - |
| rs863225460 | NA | 5290 | PIK3CA | umls:C1865285 | CLINVAR | NA | 0.360271442 | NA | PIK3CA | 3 | 179199160 | T | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:14) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0002637 | Cerebral ischemia | MP:0006190 | retinal ischemia | inadequate blood flow to the retina usually due to functional constriction or obstruction of a blood vessel |
| HP:0100555 | Asymmetric growth | MP:0010865 | prenatal growth retardation | slow or limited development during the prenatal period |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| 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:0000648 | Optic 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:0001829 | Foot polydactyly | MP:0009744 | postaxial polydactyly | duplication of all or part of any of the rays except the first ray on one or more of the autopods |
| HP:0006101 | Finger syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0001161 | Hand polydactyly | MP:0009744 | postaxial polydactyly | duplication of all or part of any of the rays except the first ray on one or more of the autopods |
| 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:0005280 | Depressed nasal bridge | MP:0013582 | abnormal lateral nasal gland morphology | any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those d |
| 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:0100585 | Telangiectasia of the skin | MP:0011022 | abnormal circadian regulation of systemic arterial blood pressure | any anomaly in the process in which an organism modulates its blood pressure at different values with a regularity of approximately 24 hours |
| 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 |
Mapped by homologous gene(Total Items:33) | ||||
|---|---|---|---|---|
| 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:0000154 | Wide 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:0002126 | Polymicrogyria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001052 | Nevus flammeus | MP:0013956 | decreased colon length | reduced length of the portion of the large intestine between the cecum and the rectum |
| HP:0002664 | Neoplasm | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001161 | Hand polydactyly | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0002119 | Ventriculomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0000324 | Facial asymmetry | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002308 | Arnold-Chiari malformation | 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:0001770 | Toe syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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: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:0005280 | Depressed nasal bridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0002637 | Cerebral ischemia | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0001829 | Foot polydactyly | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0006101 | Finger syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000348 | High forehead | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000648 | Optic atrophy | 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: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:0100761 | Visceral angiomatosis | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0100555 | Asymmetric growth | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0100026 | Arteriovenous malformation | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0100585 | Telangiectasia of the skin | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| 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:0001034 | Hypermelanotic macule | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002007 | Frontal bossing | 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:0000293 | Full cheeks | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000965 | Cutis marmorata | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| Disease ID | 1933 |
|---|---|
| Disease | megalencephaly-capillary malformation-polymicrogyria syndrome |
| Case | (Waiting for update.) |