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ARCL1B
MCID: CTS037
MIFTS: 42
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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, Skin diseases
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MalaCards integrated aliases for Cutis Laxa, Autosomal Recessive, Type Ib:
Characteristics:Orphanet epidemiological data:58
lethal arteriopathy syndrome due to fibulin-4 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
relatively mild cutis laxa, associated with severe vascular abnormalities massive aortic aneurysm can cause airway compression in affected infants HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases Anatomical: Cardiovascular diseases Skin diseases Blood diseases Neuronal diseases Eye diseases Bone diseases Gastrointestinal diseases Nephrological diseases Muscle diseases Mental diseases
ICD10:
32
Orphanet: 58
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis |
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UniProtKB/Swiss-Prot :
73
Cutis laxa, autosomal recessive, 1B: 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 arcl1b, 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 Degradation of the extracellular matrix and Elastic fibre formation. Affiliated tissues include skin, eye and brain, and related phenotypes are depressed nasal bridge and microcephaly Disease Ontology : 12 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. OMIM : 56 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) |
Human phenotypes related to Cutis Laxa, Autosomal Recessive, Type Ib:31 (show all 30)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:614437 |
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MalaCards organs/tissues related to Cutis Laxa, Autosomal Recessive, Type Ib:40
Skin,
Eye,
Brain
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Articles related to Cutis Laxa, Autosomal Recessive, Type Ib:(show all 12)
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Genes related to Cutis Laxa, Autosomal Recessive, Type Ib (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Cutis Laxa, Autosomal Recessive, Type Ib:6 (show top 50) (show all 83)
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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