ADCL2
MCID: CTS031
MIFTS: 35
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Cutis Laxa, Autosomal Dominant 2 (ADCL2)
Categories:
Blood diseases, Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases
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MalaCards integrated aliases for Cutis Laxa, Autosomal Dominant 2:
Characteristics:Inheritance:
Autosomal dominant 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
one african american female has been described cutaneous manifestations significantly improved over the first decade of life Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Skin diseases Neuronal diseases Eye diseases Cardiovascular diseases Bone diseases Gastrointestinal diseases Respiratory diseases Nephrological diseases Muscle diseases Blood diseases Mental diseases
ICD10:
31
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UniProtKB/Swiss-Prot: 73 A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. MalaCards based summary: Cutis Laxa, Autosomal Dominant 2, also known as adcl2, is related to cutis laxa and autosomal recessive cutis laxa type iii. An important gene associated with Cutis Laxa, Autosomal Dominant 2 is FBLN5 (Fibulin 5), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and One-carbon metabolism and related pathways. Affiliated tissues include skin, and related phenotypes are scoliosis and mitral regurgitation OMIM®: 57 Cutis laxa is a connective tissue disorder characterized by loose skin and variable internal organ involvement resulting from a paucity of elastic fibers (summary by Markova et al., 2003). For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ADCL1 (123700). (614434) (Updated 08-Dec-2022) Disease Ontology: 11 An autosomal dominant cutis laxa that has material basis in heterozygous mutation in the FBLN5 gene on chromosome 14q32. |
Human phenotypes related to Cutis Laxa, Autosomal Dominant 2:30
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:614434 (Updated 08-Dec-2022) |
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Organs/tissues related to Cutis Laxa, Autosomal Dominant 2:
MalaCards :
Skin
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Articles related to Cutis Laxa, Autosomal Dominant 2:
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ClinVar genetic disease variations for Cutis Laxa, Autosomal Dominant 2:5
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Search
GEO
for disease gene expression data for Cutis Laxa, Autosomal Dominant 2.
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Pathways related to Cutis Laxa, Autosomal Dominant 2 according to GeneCards Suite gene sharing:
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Cellular components related to Cutis Laxa, Autosomal Dominant 2 according to GeneCards Suite gene sharing:
Biological processes related to Cutis Laxa, Autosomal Dominant 2 according to GeneCards Suite gene sharing:
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