Cutis Laxa, Autosomal Recessive, Type Ib; Arcl1b

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 IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by Hoyer et al., 2009).For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Genes related to Cutis Laxa, Autosomal Recessive, Type Ib; Arcl1b

EFEMP2

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Clinical Features

Top most frequent phenotypes and symptoms related to Cutis Laxa, Autosomal Recessive, Type Ib; Arcl1b

Generalized hypotonia
Microcephaly
Hypertelorism
Micrognathia
Abnormal facial shape
Low-set ears
Flexion contracture
High palate
Depressed nasal bridge
Downslanted palpebral fissures

And another 39 symptoms. If you need more information about this disease we can help you.

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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 Ib; Arcl1b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Pulmonary Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...) View the complete list with 73 more genes Panel complete gene list RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2, RSPH1, CFAP298, CAV1, HPS3, HPS4, RTEL1, NME8, LRRC6, HPS5, DTNBP1, ACVRL1, INVS, CENPF, CCNO, DNAI2, HPS6, CFTR, DOCK8, ZMYND10, DNAAF2, BLOC1S3, RSPH3, RSPH9, DNAAF4, RSPH4A, DNAL1, DRC1, CSF2RA, CSF2RB, CCDC39, TTC25, ARMC4, OFD1, DNAAF5, CCDC40, CCDC114, FLCN, ELMOD2, CCDC151, DKC1, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, CCDC65, DNAAF3, DNAAF1, DNAJB13, EDN3, EFEMP2, CCDC103, ABCA3, ELN, ENG, FBLN5, FOXF1, MCIDAS, GAS8, GDF2, ALMS1, HPS1, AP3B1, KCNA5, KCNK3, LTBP4, SMAD4, SMAD9, MUC5B, BLOC1S6, PARN, SERPINA1, PHOX2B Specificity 2 % Genes 100 %
EFEMP5. By Institute for Human Genetics University Clinic Freiburg (Germany). EFEMP2 Specificity 100 % Genes 100 %
Cystic Lung Disease Panel (8 Genes). By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States). TSC1, TSC2, FLCN, EFEMP2, ELN, FBLN5, LTBP4, SERPINA1 Specificity 13 % Genes 100 %
PulmoGene Panel (64 Genes). By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States). RPGR, BDNF, SCNN1A, SCNN1B, SCNN1G, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, STAT3, TERC, TERT, NKX2-1, TSC1, TSC2, RSPH1, HPS3, HPS4 , (...) View the complete list with 44 more genes Panel complete gene list RPGR, BDNF, SCNN1A, SCNN1B, SCNN1G, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, STAT3, TERC, TERT, NKX2-1, TSC1, TSC2, RSPH1, HPS3, HPS4, NME8, HPS5, DTNBP1, ACVRL1, DNAI2, HPS6, CFTR, DOCK8, DNAAF2, BLOC1S3, RSPH9, RSPH4A, DNAL1, CSF2RA, CSF2RB, CCDC39, CCDC40, FLCN, ELMOD2, DNAH11, DNAH5, DNAI1, DNAAF1, EDN3, EFEMP2, ABCA3, ELN, ENG, FBLN5, FBN1, FOXF1, GDNF, HPS1, HRAS, AP3B1, LTBP4, SMAD9, ASCL1, MUC5B, NF1, BLOC1S6, SERPINA1, PHOX2B, RET Specificity 2 % Genes 100 %
Aortopathy Panel, Sequencing and Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics (United States). SKI, TGFB2, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, FLNA, SMAD3, SMAD4, MYH11, MYLK, PLOD1, PLOD3 , (...) View the complete list with 1 more genes Panel complete gene list SKI, TGFB2, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, FBN1, FBN2, FLNA, SMAD3, SMAD4, MYH11, MYLK, PLOD1, PLOD3, PRKG1 Specificity 5 % Genes 100 %
Connective Tissue Disorders Panel. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States). BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2 , (...) View the complete list with 45 more genes Panel complete gene list BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2, SLC39A13, DSE, ADAMTS2, COL11A1, COL11A2, COL1A2, COL3A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, ZNF469, CHST14, GORAB, FLCN, MFAP5, EFEMP2, ELN, FBLN5, FBN1, FBN2, FLNA, FOXE3, ABCC6, LOX, LTBP4, SMAD2, SMAD3, SMAD4, SMAD6, MYH11, MYLK, NOTCH1, NOTCH2, ATP7A, PKD1, PKD2, PLOD1, B4GALT7, PRDM5, PRKG1, PTDSS1, PYCR1, ALDH18A1 Specificity 2 % Genes 100 %
Cutis Laxa Panel. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States). ATP6V0A2, RIN2, GORAB, EFEMP2, ELN, FBLN5, LTBP4, PTDSS1, PYCR1, ALDH18A1 Specificity 10 % Genes 100 %
EFEMP2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). EFEMP2 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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