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ARCL1B
MCID: CTS037
MIFTS: 47
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Cutis Laxa, Autosomal Recessive, Type Ib (ARCL1B)
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 Ib:
Name: Cutis Laxa, Autosomal Recessive, Type Ib
57
71
Characteristics:Inheritance:
Cutis Laxa, Autosomal Recessive, Type Ib:
Autosomal recessive 57
Lethal Arteriopathy Syndrome Due to Fibulin-4 Deficiency:
Autosomal recessive 58
Prevelance:
Lethal Arteriopathy Syndrome Due to Fibulin-4 Deficiency:
<1/1000000 (Worldwide) 58
Age Of Onset:
Lethal Arteriopathy Syndrome Due to Fibulin-4 Deficiency:
Infancy,Neonatal 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
relatively mild cutis laxa, associated with severe vascular abnormalities massive aortic aneurysm can cause airway compression in affected infants Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases Anatomical: Cardiovascular diseases Skin diseases Respiratory diseases Blood diseases Neuronal diseases Eye diseases Bone diseases Gastrointestinal diseases Nephrological diseases Muscle diseases Mental diseases
ICD10:
31
Orphanet: 58
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis |
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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. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. ARCL1B features include emphysema, lethal pulmonary artery occlusion, aortic aneurysm, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. MalaCards based summary: Cutis Laxa, Autosomal Recessive, Type Ib, also known as cutis laxa, autosomal recessive, type 1b, is related to cutis laxa and efemp2-related cutis laxa. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Ib is EFEMP2 (EGF Containing Fibulin Extracellular Matrix Protein 2), and among its related pathways/superpathways are Extracellular matrix organization and Elastic fibre formation. Affiliated tissues include skin, brain and lung, and related phenotypes are depressed nasal bridge and microcephaly Orphanet: 58 Lethal arteriopathy syndrome due to fibulin-4 deficiency is a rare, genetic, vascular disorder characterized by severe aneurysmal dilatation, elongation, and tortuosity of the thoracic aorta, its branches and pulmonary arteries with stenosis at various typical locations, typically resulting in infantile demise. Variable associated features may include cutis laxa, long philtrum with thin vermillion border, hypertelorism, sagging cheeks, arachnodactyly, joint laxity and pectus deformities. OMIM®: 57 Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by Hoyer et al., 2009). For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). (614437) (Updated 08-Dec-2022) Disease Ontology: 11 An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13. |
Human phenotypes related to Cutis Laxa, Autosomal Recessive, Type Ib:30 (show all 29)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:614437 (Updated 08-Dec-2022)MGI Mouse Phenotypes related to Cutis Laxa, Autosomal Recessive, Type Ib:45
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Organs/tissues related to Cutis Laxa, Autosomal Recessive, Type Ib:
MalaCards :
Skin,
Brain,
Lung
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Articles related to Cutis Laxa, Autosomal Recessive, Type Ib:(show all 19)
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Genes related to Cutis Laxa, Autosomal Recessive, Type Ib (2 elite genes):(show all 13) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Cutis Laxa, Autosomal Recessive, Type Ib:5 (show top 50) (show all 242)
UniProtKB/Swiss-Prot genetic disease variations for Cutis Laxa, Autosomal Recessive, Type Ib:73
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Search
GEO
for disease gene expression data for Cutis Laxa, Autosomal Recessive, Type Ib.
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Cellular components related to Cutis Laxa, Autosomal Recessive, Type Ib according to GeneCards Suite gene sharing:
Biological processes related to Cutis Laxa, Autosomal Recessive, Type Ib according to GeneCards Suite gene sharing:
Molecular functions related to Cutis Laxa, Autosomal Recessive, Type Ib according to GeneCards Suite gene sharing:
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