eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| ivemark syndrome | ||||
| Disease ID | 1909 |
|---|---|
| Disease | ivemark syndrome |
| Definition | Ivemark syndrome is a rare disorder that affects multiple organ systems of the body. It is characterized by the absence (asplenia) or underdevelopment (hypoplasia) of the spleen, malformations of the heart and the abnormal arrangement of the internal organs of the chest and abdomen. The symptoms of Ivemark syndrome can vary greatly depending upon the specific abnormalities present. Many infants have symptoms associated with abnormalities affecting the heart including bluish discoloration to the skin due to a lack of oxygen in the blood (cyanosis), heart murmurs, and signs of congestive heart failure. Ivemark syndrome often causes life-threatening complications during infancy. The exact cause of Ivemark syndrome is not known.The medical terminology used to describe Ivemark syndrome and related disorders is extremely complicated and confusing. Ivemark syndrome is classified as a heterotaxy disorder or a laterality disorder. These terms refer to the failure of the internal organs of the chest and abdomen to be arranged in the proper location within the body. Additional terms used when discussing Ivemark syndrome may include situs solitus (which refers to the normal positioning of these organs), situs inversus (which refers to the complete reversal of the organs so that those normally on the left side are on the right and vice versa), and situs ambiguous (which refers to the random positioning of the organs, with some in the correct place and others in the wrong location). Ivemark syndrome is usually referred to as a specific form of situs ambiguous. - NORD Reference: NORD |
| Synonym | asplenia syndrome asplenia syndromes asplenia with cardiovascular anomalies bilateral right-sidedness sequence bilateral right-sidedness sequence (disorder) congenital absence of spleen syndrome ivemark's syndrome right atrial isomerism with asplenia situs ambiguus with asplenia splenic agenesis syndrome syndrome, asplenia syndrome, ivemark syndromes, asplenia |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0175707 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:5) C0042900 | vitiligo | 1 C0152021 | congenital heart disease | 1 C0018799 | heart disease | 1 C0836924 | thrombocytosis | 1 C0034065 | pulmonary embolism | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) GDF1 | 19p13.11 |
| Disease ID | 1909 |
|---|---|
| Disease | ivemark syndrome |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0000078 | Genital abnormalities | 1 HP:0001045 | Blotchy loss of skin color | 1 HP:0001894 | Thrombocytosis | 1 HP:0002204 | Pulmonary embolism | 1 HP:0001649 | Tachycardia | 1 |
| Disease ID | 1909 |
|---|---|
| Disease | ivemark syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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Text Mining Genotype(Total Genotypes:0) | |
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All Snps(Total Genotypes:0) | |
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GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1909 |
|---|---|
| Disease | ivemark syndrome |
| Case | (Waiting for update.) |