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ARCL2E
MCID: CTS048
MIFTS: 31
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Cutis Laxa, Autosomal Recessive, Type Iie (ARCL2E)
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 Iie:
Characteristics:Inheritance:
Cutis Laxa, Autosomal Recessive, Type Iie:
Autosomal recessive 57
Autosomal Recessive Cutis Laxa Type 2:
Autosomal recessive 58
Prevelance:
Autosomal Recessive Cutis Laxa Type 2:
<1/1000000 (Worldwide) 58
Age Of Onset:
Autosomal Recessive Cutis Laxa Type 2:
Infancy,Neonatal 58
Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases Anatomical: Bone diseases Skin diseases Mental diseases Neuronal diseases Eye diseases Cardiovascular diseases Gastrointestinal diseases Respiratory diseases Nephrological diseases Muscle diseases Blood diseases
ICD10:
32
Orphanet: 58
Rare bone diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis |
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OMIM®: 57 Autosomal recessive cutis laxa type IIE (ARCL2E) is characterized by connective tissue features, including generalized cutis laxa and inguinal hernia, craniofacial dysmorphology, variable mild heart defects, and prominent skeletal features, including craniosynostosis, short stature, brachydactyly, clinodactyly, and syndactyly (Pottie et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100). (619451) (Updated 08-Dec-2022) MalaCards based summary: Cutis Laxa, Autosomal Recessive, Type Iie, also known as arcl2e, is related to cutis laxa, autosomal recessive, type iia and cutis laxa, autosomal recessive, type iib. An important gene associated with Cutis Laxa, Autosomal Recessive, Type Iie is LTBP1 (Latent Transforming Growth Factor Beta Binding Protein 1). Affiliated tissues include skin, bone and heart, and related phenotypes are scoliosis 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. ARCL2E patients present with cutis laxa, inguinal hernia, craniofacial dysmorphology, variable heart defects, and prominent skeletal features including craniosynostosis, short stature, brachydactyly, and syndactyly. Orphanet: 58 A spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic autosomal recessive cutis laxa type 2 (ARCL2, Debré type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS). |
Human phenotypes related to Cutis Laxa, Autosomal Recessive, Type Iie:30 (show all 33)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:619451 (Updated 08-Dec-2022) |
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Organs/tissues related to Cutis Laxa, Autosomal Recessive, Type Iie:
MalaCards :
Skin,
Bone,
Heart
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Articles related to Cutis Laxa, Autosomal Recessive, Type Iie:(show all 12)
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Genes related to Cutis Laxa, Autosomal Recessive, Type Iie (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Cutis Laxa, Autosomal Recessive, Type Iie:5
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Search
GEO
for disease gene expression data for Cutis Laxa, Autosomal Recessive, Type Iie.
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