eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| amish lethal microcephaly | ||||
| Disease ID | 1925 |
|---|---|
| Disease | amish lethal microcephaly |
| Synonym | amish lethal microcephaly (disorder) amish microcephaly mcpha microcephaly, amish type microcephaly, amish type (disorder) thiamine metabolism dysfunction syndrome 3 (microcephaly type) thmd3 |
| Orphanet | |
| OMIM | |
| UMLS | C1846648 |
| 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) SLC25A19 | 17q25.1 |
| Disease ID | 1925 |
|---|---|
| Disease | amish lethal microcephaly |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:25) HP:0001274 | Agenesis of corpus callosum HP:0001320 | Cerebellar vermis hypoplasia HP:0002119 | Ventriculomegaly HP:0001992 | Organic aciduria HP:0001376 | Limitation of joint mobility HP:0001339 | Lissencephaly HP:0000347 | Micrognathia HP:0001522 | Death in infancy HP:0011344 | Severe global developmental delay HP:0004331 | Decreased skull ossification HP:0002414 | Spina bifida HP:0011968 | Feeding difficulties HP:0001942 | Metabolic acidosis HP:0000252 | Microcephaly HP:0000939 | Osteoporosis HP:0000648 | Optic atrophy HP:0002240 | Hepatomegaly HP:0002069 | Generalized tonic-clonic seizures HP:0001558 | Decreased fetal movement HP:0002509 | Limb hypertonia HP:0005968 | Temperature instability HP:0000737 | Irritability HP:0001252 | Muscular hypotonia HP:0000185 | Cleft soft palate HP:0000340 | Sloping forehead |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1925 |
|---|---|
| Disease | amish lethal microcephaly |
| 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:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs119473030 | NA | 60386 | SLC25A19 | umls:C1846648 | CLINVAR | NA | 0.560271442 | NA | SLC25A19 | 17 | 75278265 | C | G |
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: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:0001376 | Limitation of joint mobility | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| HP:0001274 | Agenesis of corpus callosum | MP:0013808 | abnormal tunnel of Corti morphology | any structrual anomaly of the triangular, fluid-filled space normally found between the inner and outer rows of supporting pillar cells in the organ of Corti |
| HP:0001320 | Cerebellar vermis hypoplasia | MP:0000866 | cerebellum vermis hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, in the vermis |
| 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:0001942 | Metabolic acidosis | 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: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:0002414 | Spina bifida | MP:0003054 | spina bifida | common congenital midline defect of fusion of the vertebral arch |
| HP:0001522 | Death in infancy | MP:0000790 | abnormal stratification in cerebral cortex | abnormal formation or pattern of the layers of the cerebral cortex |
| HP:0001558 | Decreased fetal movement | 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:0011344 | Severe global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0004331 | Decreased skull ossification | MP:0020040 | decreased bone ossification | decrease 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 |
Mapped by homologous gene(Total Items:24) | ||||
|---|---|---|---|---|
| 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: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:0002509 | Limb hypertonia | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0001320 | Cerebellar vermis hypoplasia | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0001522 | Death in infancy | 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:0001376 | Limitation of joint mobility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000347 | Micrognathia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000340 | Sloping forehead | MP:0020040 | decreased bone ossification | decrease 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:0011968 | Feeding difficulties | 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:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002414 | Spina bifida | MP:0013901 | absent female preputial gland | absence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attracti |
| HP:0001992 | Organic aciduria | MP:0011471 | decreased urine creatinine level | a reduced amount of creatinine in the urine compared to the normal state |
| HP:0000737 | Irritability | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0001558 | Decreased fetal movement | 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:0001339 | Lissencephaly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005968 | Temperature instability | MP:0011101 | prenatal 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 between fertilization and birth (Mus: approximately E18.5) |
| HP:0001274 | Agenesis of 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:0004331 | Decreased skull ossification | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001942 | Metabolic acidosis | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| 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: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 |
| Disease ID | 1925 |
|---|---|
| Disease | amish lethal microcephaly |
| Case | (Waiting for update.) |