ARCL3B
MCID: CTS032
MIFTS: 39
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Cutis Laxa, Autosomal Recessive, Type Iiib (ARCL3B)
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 Recessive, Type Iiib:
Name: Cutis Laxa, Autosomal Recessive, Type Iiib
57
71
Characteristics:Inheritance:
Autosomal recessive 57
Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Skin diseases Cardiovascular diseases Bone diseases Gastrointestinal diseases Respiratory diseases Nephrological diseases Muscle diseases Blood diseases Mental diseases
ICD10:
31
32
Orphanet: 58
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OMIM®: 57 De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011). For a phenotypic description and a discussion of genetic heterogeneity of de Barsy syndrome, see 219150. For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see 219200. (614438) (Updated 08-Dec-2022) MalaCards based summary: Cutis Laxa, Autosomal Recessive, Type Iiib, also known as pycr1-related de barsy syndrome, is related to cutis laxa and cutis laxa, autosomal dominant 3. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Iiib is PYCR1 (Pyrroline-5-Carboxylate Reductase 1), and among its related pathways/superpathways are superpathway of L-citrulline metabolism and Amino acid metabolism. Affiliated tissues include skin and eye, and related phenotypes are intellectual disability and osteopenia UniProtKB/Swiss-Prot: 73 A disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation, and cutis laxa. Disease Ontology: 11 An autosomal recessive cutis laxa type III that has material basis in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. |
Human phenotypes related to Cutis Laxa, Autosomal Recessive, Type Iiib:30 (show all 33)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:614438 (Updated 08-Dec-2022) |
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Organs/tissues related to Cutis Laxa, Autosomal Recessive, Type Iiib:
MalaCards :
Skin,
Eye
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Articles related to Cutis Laxa, Autosomal Recessive, Type Iiib:
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ClinVar genetic disease variations for Cutis Laxa, Autosomal Recessive, Type Iiib:5
UniProtKB/Swiss-Prot genetic disease variations for Cutis Laxa, Autosomal Recessive, Type Iiib:73
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Search
GEO
for disease gene expression data for Cutis Laxa, Autosomal Recessive, Type Iiib.
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Pathways related to Cutis Laxa, Autosomal Recessive, Type Iiib according to GeneCards Suite gene sharing:
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Cellular components related to Cutis Laxa, Autosomal Recessive, Type Iiib according to GeneCards Suite gene sharing:
Biological processes related to Cutis Laxa, Autosomal Recessive, Type Iiib according to GeneCards Suite gene sharing:
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