Rhizomelic chondrodysplasia punctata type 1 (Q95905): Difference between revisions
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Este é um distúrbio raro do desenvolvimento cerebral, caracterizado por encurtamento sistêmico dos ossos proximais (ou seja, rizomelia), convulsões, infecções recorrentes do trato respiratório e catarata congênita. O tipo 1 (RCDP1) está associado a mutações PEX7. Esses são distúrbios da biogênese dos peroxissomos em que a montagem adequada dos peroxissomos é prejudicada. | |||
| description / en | description / en | ||
This is a rare, developmental brain disorder characterised by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congenital cataracts. Type 1 (RCDP1) is associated with PEX7 mutations. These are peroxisome biogenesis disorders where proper assembly of peroxisomes is impaired. | |||
Revision as of 11:44, 16 August 2026
This is a rare, developmental brain disorder characterised by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congenital cataracts. Type 1 (RCDP1) is associated with PEX7 mutations. These are peroxisome biogenesis disorders where proper assembly of peroxisomes is impaired.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_44503513 |
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| English | Rhizomelic chondrodysplasia punctata type 1 |
This is a rare, developmental brain disorder characterised by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congenital cataracts. Type 1 (RCDP1) is associated with PEX7 mutations. These are peroxisome biogenesis disorders where proper assembly of peroxisomes is impaired. |
