Cutis Laxa, Autosomal Recessive, Type Iiib; Arcl3b

Description

De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of de Barsy syndrome, see {219150}.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219200}.

Clinical Features

Top most frequent phenotypes and symptoms related to Cutis Laxa, Autosomal Recessive, Type Iiib; Arcl3b

  • Intellectual disability
  • Hypertelorism
  • Cryptorchidism
  • Flexion contracture
  • Delayed speech and language development
  • Coma
  • Inguinal hernia
  • Hernia
  • Posteriorly rotated ears
  • Osteoporosis
And another 22 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Cutis Laxa, Autosomal Recessive, Type Iiib; Arcl3b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
Connective Tissue Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States.

ATP7A, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, PKD2, FLNA , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Cutis laxa type IIIB, AR (sequence analysis of PYCR1 gene).

By CGC Genetics in Portugal.

PYCR1
Specificity
100 %
Genes
100 %
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, ALDH18A1, SLC39A13, COL5A1, COL5A2, PLOD1, PLP1, ADAMTS2, FLNA, ADAMTSL2, SMAD3, TGFBR1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Cutis Laxa via PYCR1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PYCR1
Specificity
100 %
Genes
100 %
Cutis laxa Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

FBLN5, ELN, PYCR1, ATP6V0A2, ALDH18A1, EFEMP2, LTBP4, ATP6V1A, ATP6V1E1
Specificity
12 %
Genes
100 %
Cutis laxa NGS panel.

By Connective Tissue Gene Tests in United States.

FBLN5, ELN, PYCR1, ATP6V0A2, ALDH18A1, EFEMP2, LTBP4, ATP6V1A, ATP6V1E1
Specificity
12 %
Genes
100 %
Cutis laxa Comprehensive panel.

By Connective Tissue Gene Tests in United States.

FBLN5, ELN, PYCR1, ATP6V0A2, ALDH18A1, EFEMP2, LTBP4, ATP6V1A, ATP6V1E1
Specificity
12 %
Genes
100 %
Progeroid syndromes and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Progeroid syndromes and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Progeroid syndromes and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

RECQL4, B4GALT7, PYCR1, FBN1, ALDH18A1, LMNA, BSCL2, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, B3GALT6, POLD1, ERCC8, AGPAT2, WRN, PDGFRB, ERCC5, BANF1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Cutis laxa panel.

By Centogene AG - the Rare Disease Company in Germany.

ATP7A, FBLN5, ELN, PYCR1, ATP6V0A2, ALDH18A1, EFEMP2, LTBP4
Specificity
13 %
Genes
100 %
Cutis laxa type IIB.

By Centogene AG - the Rare Disease Company in Germany.

PYCR1
Specificity
100 %
Genes
100 %
Cutis laxa type IIIB.

By Centogene AG - the Rare Disease Company in Germany.

PYCR1
Specificity
100 %
Genes
100 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.

By CeGaT GmbH in Germany.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, COL4A1, TGFB2, SMAD3 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm.

By CeGaT GmbH in Germany.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, PLOD3, SLC39A13, COL5A1, COL5A2, PLOD1, ADAMTS2, COL4A1, TGFB2, SMAD3 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Progeria syndromes Panel.

By CeGaT GmbH in Germany.

RECQL4, B4GALT7, PYCR1, ALDH18A1, BLM, LMNA, ERCC2, ERCC3, ZMPSTE24, ERCC6, ERCC4, POLD1, ERCC8, PTDSS1, WRN, ERCC5, GTF2H5, BANF1
Specificity
6 %
Genes
100 %
Chondrodysplasia punctata Panel.

By CeGaT GmbH in Germany.

FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, PYCR1, ATP6V0A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, PPIB, TNFRSF11B, ANO5, PLS3, TMEM38B, BMP1, WNT1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
PYCR1 mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

PYCR1
Specificity
100 %
Genes
100 %
Cutis laxa gene panel.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

ATP7A, FBLN5, ELN, PYCR1, ATP6V0A2, ALDH18A1, COG7, EFEMP2, LTBP4, GORAB, TALDO1
Specificity
10 %
Genes
100 %
NGS panel - Cutis laxa.

By Genome Diagnostics VU University Medical Center in Netherlands.

ATP7A, FBLN5, ELN, PYCR1, ALDH18A1, EFEMP2, LTBP4, RIN2
Specificity
13 %
Genes
100 %
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL1A1, COL1A2, TNFRSF11A, PYCR1, ATP6V0A2, SP7, P3H1, CRTAP, PLOD2, PPIB, LMNA, CASR, PHEX , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Skeletal Dysplasia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
Skeletal Dysplasias NGS panel.

By Fulgent Genetics Fulgent Genetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...)

View the complete list with 141 more genes
Specificity
1 %
Genes
100 %
PYCR1.

By Fulgent Genetics Fulgent Genetics in United States.

PYCR1
Specificity
100 %
Genes
100 %
Cutis Laxa Panel.

By Blueprint Genetics in Finland.

ATP7A, FBLN5, ELN, PYCR1, ATP6V0A2, ALDH18A1, SLC2A10, EFEMP2, LTBP4, GORAB
Specificity
10 %
Genes
100 %
Progeria and Progeroid Syndromes Panel.

By Blueprint Genetics in Finland.

RECQL4, B4GALT7, COL3A1, PYCR1, ALDH18A1, BLM, LMNA, BSCL2, ERCC2, ZMPSTE24, ERCC6, GORAB, ERCC4, ERCC8, AGPAT2, WRN, ERCC5
Specificity
6 %
Genes
100 %
Ehlers-Danlos Syndrome Panel.

By Blueprint Genetics in Finland.

ATP7A, B4GALT7, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, COL11A1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
CUTIS LAXA TYPE 1 (AUTOSOMAL RECESSIVE).

By Laboratorio de Genetica Clinica SL in Spain.

FBLN5, PYCR1, ATP6V0A2, ALDH18A1, EFEMP2, LTBP4
Specificity
17 %
Genes
100 %
CUTIS LAXA: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

ATP7A, FBLN5, ELN, PYCR1, ATP6V0A2, ALDH18A1, EFEMP2, LTBP4, RIN2
Specificity
12 %
Genes
100 %
Autosomal Recessive Cutis Laxa Type IIB, Sequencing PYCR1 Gene.

By Reference Laboratory Genetics in Spain.

PYCR1
Specificity
100 %
Genes
100 %
Autosomal Dominant and Recessive Cutis Laxa , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

ATP7A, FBLN5, ELN, PYCR1, ATP6V0A2, ALDH18A1, COG7, EFEMP2, LTBP4, GORAB, RIN2, TALDO1
Specificity
9 %
Genes
100 %

Alternate names

Cutis Laxa, Autosomal Recessive, Type Iiib; Arcl3b Is also known as de barsy syndrome b;pycr1 deficiency; pyrroline-5-carboxylate reductase 1 deficiency.


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