Limited Cutaneous Systemic Sclerosis

Table of contents:

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

Description

Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.

Genes related to Limited Cutaneous Systemic Sclerosis

CAV1
HLA-DRB1
CCR6
IRF5
CCN2
KIAA0319L

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Clinical Features

Top most frequent phenotypes and symptoms related to Limited Cutaneous Systemic Sclerosis

Dysphagia
Gastroesophageal reflux
Autoimmunity
Nausea and vomiting
Abnormality of skin pigmentation
Abnormality of the skin
Pulmonary arterial hypertension
Skin ulcer
Joint contracture of the hand
Hypopigmented skin patches

And another 6 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.

Alternative names

Limited Cutaneous Systemic Sclerosis Is also known as limited cutaneous systemic scleroderma.

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.

Limited Cutaneous Systemic Sclerosis 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 17 %
Arterial Hypertension Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). BMPR1B, BMPR2, CAV1, ACVRL1, ABCA3, ENG, GDF2, KCNA5, KCNK3, SMAD4, SMAD9 Specificity 10 % Genes 17 %
Pulmonary Arterial Hypertension Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). BMPR2, CAV1, ACVRL1, ABCA3, ENG, GDF2, KCNA5, KCNK3, SMAD4, SMAD9 Specificity 10 % Genes 17 %
Partial Lipodystrophy Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). ZMPSTE24, CAV1, TBC1D4, CIDEC, ADRA2A, AKT2, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8 Specificity 8 % Genes 17 %
Congenital Generalized Lipodystrophy Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). CAV1, BSCL2, AGPAT2, FBN1, KCNJ6, CAVIN1 Specificity 17 % Genes 17 %
Comprehensive Lipodystrophy Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). ZMPSTE24, CAV1, BSCL2, TBC1D4, CIDEC, ADRA2A, AGPAT2, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, CAVIN1 Specificity 6 % Genes 17 %
Comprehensive Lipodystrophy Panel. By Genetic Services Laboratory University of Chicago (United States). ZMPSTE24, CAV1, BSCL2, TBC1D4, CIDEC, ADRA2A, AGPAT2, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, CAVIN1 Specificity 6 % Genes 17 %
Congenital Generalized Lipodystrophy Panel. By Genetic Services Laboratory University of Chicago (United States). CAV1, BSCL2, AGPAT2, FBN1, KCNJ6, CAVIN1 Specificity 17 % Genes 17 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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