eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| ivic syndrome | ||||
| Disease ID | 1664 |
|---|---|
| Disease | ivic syndrome |
| Definition | A very rare genetic malformation syndrome with characteristics of upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances and congenital bilateral non-progressive mixed hearing loss. Prevalence is not known. To date, four affected families from Venezuela, Italy, Hungary, and Turkey (discordant monozygotic twins) have been described. The syndrome has been linked to mutations in the SALL4 gene (20q13.2) encoding a transcription factor. Inherited in an autosomal dominant manner. |
| Synonym | instituto venezolano de investigaciones cientificas syndrome ivic (instituto venezolano de investigaciones cientificas) syndrome oculo-oto-radial syndrome oculootoradial syndrome oculootoradial syndrome (disorder) oors radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia |
| Orphanet | |
| OMIM | |
| UMLS | C1327918 |
| 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) SALL4 | 20q13.2 |
| Disease ID | 1664 |
|---|---|
| Disease | ivic syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:22) HP:0000544 | CPEO HP:0000486 | Squint eyes HP:0002023 | Anal atresia HP:0000365 | Hearing impairment HP:0000143 | Rectovaginal fistula HP:0030241 | Deltoid muscle hypoplasia HP:0006064 | Limited interphalangeal movement HP:0006248 | Limited wrist movement HP:0002996 | Decreased elbow mobility HP:0009702 | Fused carpal bones HP:0002650 | Scoliosis HP:0001245 | Hypoplastic thenar eminences HP:0002974 | Fused forearm bones HP:0001873 | Low platelet count HP:0001498 | Hypoplastic carpal bones HP:0001974 | Leukocytosis HP:0010034 | Short 1st metacarpal HP:0009777 | Absent thumbs HP:0001199 | Triphalangeal thumb HP:0008953 | Pectoralis major hypoplasia HP:0002566 | Intestinal malrotation HP:0002984 | Hypoplastic radius |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1664 |
|---|---|
| Disease | ivic syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0010034 | Short 1st 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:0002984 | Hypoplasia of the radius | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0001498 | Carpal bone hypoplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008953 | Pectoralis major hypoplasia | MP:0003446 | renal hypoplasia | underdevelopment or reduced size of the kidney, usually due to a reduced number of cells |
| HP:0002023 | Anal atresia | MP:0006130 | pulmonary valve atresia | congenital closure of the pulmonary valve |
| HP:0009702 | Carpal synostosis | MP:0000566 | synostosis | osseous union of two bones that are not normally connected |
| HP:0002974 | Radioulnar synostosis | MP:0000566 | synostosis | osseous union of two bones that are not normally connected |
| HP:0000143 | Rectovaginal fistula | MP:0009098 | anovaginal fistula | an abnormal anatomical passage that connects the anal canal and the vagina |
Mapped by homologous gene(Total Items:22) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002974 | Radioulnar synostosis | 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:0001498 | Carpal bone hypoplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000143 | Rectovaginal fistula | 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: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:0002566 | Intestinal malrotation | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0009777 | Absent thumb | 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:0002023 | Anal atresia | 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:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0006064 | Limited interphalangeal movement | MP:0013167 | abnormal hindlimb bud morphology | any structural anomaly of the limb bud that develops into a hindlimb (usually the leg or back limb in mammalian species) |
| HP:0001199 | Triphalangeal thumb | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008953 | Pectoralis major hypoplasia | MP:0013167 | abnormal hindlimb bud morphology | any structural anomaly of the limb bud that develops into a hindlimb (usually the leg or back limb in mammalian species) |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0030241 | Hypoplasia of deltoid muscle | MP:0013167 | abnormal hindlimb bud morphology | any structural anomaly of the limb bud that develops into a hindlimb (usually the leg or back limb in mammalian species) |
| HP:0009702 | Carpal synostosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006248 | Limited wrist movement | MP:0013167 | abnormal hindlimb bud morphology | any structural anomaly of the limb bud that develops into a hindlimb (usually the leg or back limb in mammalian species) |
| HP:0010034 | Short 1st metacarpal | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0000544 | External ophthalmoplegia | 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:0002996 | Limited elbow movement | 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:0002984 | Hypoplasia of the radius | 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:0001974 | Leukocytosis | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001245 | Small thenar eminence | 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 |
| Disease ID | 1664 |
|---|---|
| Disease | ivic syndrome |
| Case | (Waiting for update.) |