ARCL2D
MCID: CTS043
MIFTS: 39
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Cutis Laxa, Autosomal Recessive, Type Iid (ARCL2D)
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 Iid:
Characteristics:Inheritance:
Autosomal recessive 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
based on 3 patients (last curated march 2017) variable cardiac and skeletal features may be present Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Skin diseases Neuronal diseases Cardiovascular diseases Eye diseases Bone diseases Gastrointestinal diseases Respiratory diseases Nephrological diseases Muscle diseases Blood diseases Mental diseases
ICD10:
31
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OMIM®: 57 Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). (617403) (Updated 08-Dec-2022) MalaCards based summary: Cutis Laxa, Autosomal Recessive, Type Iid, also known as arcl2d, is related to cutis laxa, autosomal recessive, type ia and cutis laxa, autosomal dominant 1. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Iid is ATP6V1A (ATPase H+ Transporting V1 Subunit A), and among its related pathways/superpathways are Signaling by Receptor Tyrosine Kinases and Insulin receptor signalling cascade. Affiliated tissues include skin, cortex and heart, and related phenotypes are seizure and failure to thrive UniProtKB/Swiss-Prot: 73 A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2D patients exhibit severe hypotonia as well as cardiovascular and neurologic involvement. Disease Ontology: 11 An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13. |
Human phenotypes related to Cutis Laxa, Autosomal Recessive, Type Iid:30 (show all 31)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:617403 (Updated 08-Dec-2022) |
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Organs/tissues related to Cutis Laxa, Autosomal Recessive, Type Iid:
MalaCards :
Skin,
Cortex,
Heart
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Articles related to Cutis Laxa, Autosomal Recessive, Type Iid:
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ClinVar genetic disease variations for Cutis Laxa, Autosomal Recessive, Type Iid:5
UniProtKB/Swiss-Prot genetic disease variations for Cutis Laxa, Autosomal Recessive, Type Iid:73
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Search
GEO
for disease gene expression data for Cutis Laxa, Autosomal Recessive, Type Iid.
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Pathways related to Cutis Laxa, Autosomal Recessive, Type Iid according to GeneCards Suite gene sharing:
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Cellular components related to Cutis Laxa, Autosomal Recessive, Type Iid according to GeneCards Suite gene sharing:
Biological processes related to Cutis Laxa, Autosomal Recessive, Type Iid according to GeneCards Suite gene sharing:
Molecular functions related to Cutis Laxa, Autosomal Recessive, Type Iid according to GeneCards Suite gene sharing:
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