Cutis Laxa, Autosomal Recessive, Type Iid; Arcl2d

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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

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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

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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 Panel complete gene list SPARC, TGFBR1, TGFBR2, TNFRSF1A, TNXB, C1R, C1S, LZTS1, ADAMTSL2, B3GALT6, ATP6V0A2, FKBP14, RIN2, CHST3, SLC39A13, DSE, ADAMTS2, COL12A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14, GORAB, AEBP1, EFEMP2, ELN, FBLN5, FLNA, FLNB, GGCX, SMAD3, ATP6V1A, ATP6V1E1, ATP6AP1, ATP7A, PLOD1, PLP1, B3GAT3, B4GALT7, PRDM5, PYCR1, ALDH18A1 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 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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