Autosomal recessive cutis laxa, type 2A (Q99455): Difference between revisions
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Cútis laxa autossômica recessiva tipo 2A (ARCL-2A) é uma doença genética rara resultante de mutações em um gene que codifica uma bomba de prótons (ATP6V0A2) necessária para o processamento normal por Golgi da tropoelastina . As manifestações externas incluem pele redundante e enrugada, nariz curto com ponte nasal larga, fissuras palpebrais inclinadas para baixo, estreitamento bitemporal, fronte larga e retrognatia. Pode estar associada a graves defeitos do sistema nervoso central, incluindo microcefalia, hipotonia, convulsões, miopia e neurodegeneração. | |||
| description / en | description / en | ||
Autosomal recessive cutis laxa type 2A (ARCL-2A) is a rare genetic disease resulting from mutations in a gene encoding a proton pump (ATP6V0A2) required for normal Golgi processing of tropoelastin. External manifestations include redundant and wrinkled skin, short nose with broad nasal bridge, down-slanting palpebral fissures, bitemporal narrowing, broad forehead, and retrognathia. It may be associated with severe central nervous system defects including microcephaly, hypotonia, seizures, myopia and neurodegeneration. | |||
Revision as of 16:07, 16 August 2026
Autosomal recessive cutis laxa type 2A (ARCL-2A) is a rare genetic disease resulting from mutations in a gene encoding a proton pump (ATP6V0A2) required for normal Golgi processing of tropoelastin. External manifestations include redundant and wrinkled skin, short nose with broad nasal bridge, down-slanting palpebral fissures, bitemporal narrowing, broad forehead, and retrognathia. It may be associated with severe central nervous system defects including microcephaly, hypotonia, seizures, myopia and neurodegeneration.
| Language | Label | Description | Also known as |
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| default for all languages | ID_956396927 |
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| English | Autosomal recessive cutis laxa, type 2A |
Autosomal recessive cutis laxa type 2A (ARCL-2A) is a rare genetic disease resulting from mutations in a gene encoding a proton pump (ATP6V0A2) required for normal Golgi processing of tropoelastin. External manifestations include redundant and wrinkled skin, short nose with broad nasal bridge, down-slanting palpebral fissures, bitemporal narrowing, broad forehead, and retrognathia. It may be associated with severe central nervous system defects including microcephaly, hypotonia, seizures, myopia and neurodegeneration. |
