Cutis Laxa, Autosomal Recessive, Type Iid; Arcl2d
Description
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 (OMIM ).
Genes related to Cutis Laxa, Autosomal Recessive, Type Iid; Arcl2d
- ATP6V1A
Clinical Features
Top most frequent phenotypes and symptoms related to Cutis Laxa, Autosomal Recessive, Type Iid; Arcl2d
- Seizures
- Generalized hypotonia
- Microcephaly
- Hypertelorism
- Failure to thrive
- Strabismus
- Cataract
- Cryptorchidism
- Low-set ears
- Flexion contracture
And another 41 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Cutis Laxa, Autosomal Recessive, Type Iid; Arcl2d Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
SPARC, TGFBR1, TGFBR2, TNFRSF1A, TNXB, C1R, C1S, LZTS1, ADAMTSL2, B3GALT6, ATP6V0A2, FKBP14, RIN2, CHST3, SLC39A13, DSE, ADAMTS2, COL12A1, COL1A2, COL3A1 , (...)
View the complete list with 24 more genes
Specificity
3 %
Genes
100 % |
Cutis laxa Deletion / Duplication panel.
By Connective Tissue Gene Tests (United States).
ATP6V0A2, EFEMP2, ELN, FBLN5, LTBP4, ATP6V1A, ATP6V1E1, PYCR1, ALDH18A1
Specificity
12 %
Genes
100 % |
Cutis laxa NGS panel.
By Connective Tissue Gene Tests (United States).
ATP6V0A2, EFEMP2, ELN, FBLN5, LTBP4, ATP6V1A, ATP6V1E1, PYCR1, ALDH18A1
Specificity
12 %
Genes
100 % |
Cutis laxa Comprehensive panel.
By Connective Tissue Gene Tests (United States).
ATP6V0A2, EFEMP2, ELN, FBLN5, LTBP4, ATP6V1A, ATP6V1E1, PYCR1, ALDH18A1
Specificity
12 %
Genes
100 % |
ATP6V1A.
By Fulgent Genetics Fulgent Genetics (United States).
ATP6V1A
Specificity
100 %
Genes
100 % |
You can get up to -3 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2 SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50 INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA; IDDCA EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7