ARCL2C
MCID: CTS044
MIFTS: 25
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Cutis Laxa, Autosomal Recessive, Type Iic (ARCL2C)
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 Iic:
Characteristics:Inheritance:
Autosomal recessive 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
one kuwaiti and one iranian family with 2 sibs each have been reported (last curated march 2017) variable congenital heart defects Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Skin diseases Cardiovascular diseases Neuronal 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 IIC (ARCL2C) 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 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). (617402) (Updated 08-Dec-2022) MalaCards based summary: Cutis Laxa, Autosomal Recessive, Type Iic, is also known as autosomal recessive cutis laxa type 2c. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Iic is ATP6V1E1 (ATPase H+ Transporting V1 Subunit E1). Affiliated tissues include skin, heart and lung, and related phenotypes are nystagmus and high palate 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 ARCL2C patients exhibit severe hypotonia as well as cardiovascular involvement. Disease Ontology: 11 An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11. |
Human phenotypes related to Cutis Laxa, Autosomal Recessive, Type Iic:30 (show all 33)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:617402 (Updated 08-Dec-2022) |
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Organs/tissues related to Cutis Laxa, Autosomal Recessive, Type Iic:
MalaCards :
Skin,
Heart,
Lung
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Articles related to Cutis Laxa, Autosomal Recessive, Type Iic:
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ClinVar genetic disease variations for Cutis Laxa, Autosomal Recessive, Type Iic:5
UniProtKB/Swiss-Prot genetic disease variations for Cutis Laxa, Autosomal Recessive, Type Iic:73
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Search
GEO
for disease gene expression data for Cutis Laxa, Autosomal Recessive, Type Iic.
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