Cutis Laxa, Autosomal Recessive, Type Ib; Arcl1b

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 ).

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
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
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
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
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 %

You can get up to 50 more panels with our dedicated tool

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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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