loading...| Preferred Name | Alport syndrome | |
| Synonyms |
Alport syndrome (disorder) |
|
| Definitions |
An inherited disease characterised by glomerular nephropathy with haematuria, progressing to end-stage renal disease, associated with sensorineural deafness. It involves a structural defect of type IV collagen, which is a normal component of the glomerular basal membrane. Ocular abnormalities are present a third of cases. Sensorineural deafness is linked to cochlear involvement. Mutations in the COL4A5 gene localised on chromosome Xq22 and coding for the alpha 5 chain of type IV collagen are responsible for the most frequent form of the disease. Mutations in COL4A3 and COL4A4 genes, which map to chromosome 2, are responsible for the less frequent autosomal recessive form. A few rare cases of autosomal dominant forms have been reported. An inherited disease characterized by glomerular nephropathy with hematuria, progressing to end-stage renal disease, associated with sensorineural deafness. It involves a structural defect of type IV collagen, which is a normal component of the glomerular basal membrane. Ocular abnormalities are present a third of cases. Sensorineural deafness is linked to cochlear involvement. Mutations in the COL4A5 gene localized on chromosome Xq22 and coding for the alpha 5 chain of type IV collagen are responsible for the most frequent form of the disease. Mutations in COL4A3 and COL4A4 genes, which map to chromosome 2, are responsible for the less frequent autosomal recessive form. A few rare cases of autosomal dominant forms have been reported. |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/770414008 |
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| Active |
1 |
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| altLabel |
Alport syndrome (disorder) |
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| CASE SIGNIFICANCE ID |
900000000000017005 |
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| Cause of | ||
| CTV3ID |
XV6mO |
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| cui |
C1567741 |
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| definition |
An inherited disease characterised by glomerular nephropathy with haematuria, progressing to end-stage renal disease, associated with sensorineural deafness. It involves a structural defect of type IV collagen, which is a normal component of the glomerular basal membrane. Ocular abnormalities are present a third of cases. Sensorineural deafness is linked to cochlear involvement. Mutations in the COL4A5 gene localised on chromosome Xq22 and coding for the alpha 5 chain of type IV collagen are responsible for the most frequent form of the disease. Mutations in COL4A3 and COL4A4 genes, which map to chromosome 2, are responsible for the less frequent autosomal recessive form. A few rare cases of autosomal dominant forms have been reported. An inherited disease characterized by glomerular nephropathy with hematuria, progressing to end-stage renal disease, associated with sensorineural deafness. It involves a structural defect of type IV collagen, which is a normal component of the glomerular basal membrane. Ocular abnormalities are present a third of cases. Sensorineural deafness is linked to cochlear involvement. Mutations in the COL4A5 gene localized on chromosome Xq22 and coding for the alpha 5 chain of type IV collagen are responsible for the most frequent form of the disease. Mutations in COL4A3 and COL4A4 genes, which map to chromosome 2, are responsible for the less frequent autosomal recessive form. A few rare cases of autosomal dominant forms have been reported. |
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| DEFINITION STATUS ID |
900000000000074008 |
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| Effective time |
20190131 |
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| Has associated morphology | ||
| Has finding site | ||
| interprets | ||
| notation |
770414008 |
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| prefLabel |
Alport syndrome |
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| Subset member |
6011000124106~MAPTARGET~D58.1 447562003~MAPRULE~TRUE 6011000124106~MAPADVICE~IF X-LINKED DIFFUSE LEIOMYOMATOSIS WITH ALPORT SYNDROME CHOOSE D48.19 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPRULE~IFA 726106004 | X-linked diffuse leiomyomatosis with Alport syndrome | 447562003~MAPTARGET~Q87.8 447562003~MAPGROUP~1 6011000124106~MAPTARGET~F79 6011000124106~MAPADVICE~IF X-LINKED DIFFUSE LEIOMYOMATOSIS WITH ALPORT SYNDROME CHOOSE Q87.81 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~CORRELATIONID~447561005 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~Q87.81 6011000124106~MAPTARGET~D48.19 6011000124106~MAPADVICE~ALWAYS Q87.81 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPADVICE~IF X-LINKED DIFFUSE LEIOMYOMATOSIS WITH ALPORT SYNDROME CHOOSE D48.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPGROUP~4 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPADVICE~IF ALPORT SYNDROME, INTELLECTUAL DISABILITY, MIDFACE HYPOPLASIA, ELLIPTOCYTOSIS SYNDROME CHOOSE D58.1 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPADVICE~ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION 900000000000497000~MAPTARGET~XV6mO 6011000124106~MAPADVICE~IF ALPORT SYNDROME, INTELLECTUAL DISABILITY, MIDFACE HYPOPLASIA, ELLIPTOCYTOSIS SYNDROME CHOOSE F79 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 6011000124106~MAPADVICE~IF ALPORT SYNDROME, INTELLECTUAL DISABILITY, MIDFACE HYPOPLASIA, ELLIPTOCYTOSIS SYNDROME CHOOSE Q18.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPGROUP~3 6011000124106~MAPPRIORITY~2 6011000124106~MAPTARGET~Q18.8 6011000124106~MAPRULE~IFA 720982007 | Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome | 6011000124106~MAPTARGET~D48.1 |
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| tui |
T047 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/399340005 |