Diffuse 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

Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).

Genes related to Diffuse Cutaneous Systemic Sclerosis

CAV1
HLA-DRB1
CCR6
IRF5
CCN2

View recommended genes panels

Clinical Features

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

Muscle weakness
Pain
Flexion contracture
Hypertension
Dysphagia
Vomiting
Diarrhea
Congestive heart failure
Renal insufficiency
Constipation

And another 26 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

Diffuse Cutaneous Systemic Sclerosis Is also known as progressive cutaneous systemic scleroderma, diffuse cutaneous systemic scleroderma, progressive cutaneous systemic sclerosis.

Researches and researchers

Doctors, researchs, and experts related to Diffuse Cutaneous Systemic Sclerosis extracted from public data.

Diffuse Cutaneous Systemic Sclerosis Experts map

Current Researchs and researchers

MANCHESTER — Pr Ariane HERRICK
Investigator of research project
- Institution/s:
  — Institute of Inflammation and Repair, Faculty of Medical and Human Sciences - University of Manchester
  — Hope Hospital, University of Manchester
- Research area/topic::
  ESOS: Observational study of early diffuse cutaneous systemic sclerosis

SALFORD — Pr Ariane HERRICK
Investigator of research project
- Institution/s:
  — Institute of Inflammation and Repair, Faculty of Medical and Human Sciences - University of Manchester
  — Hope Hospital, University of Manchester
- Research area/topic::
  ESOS: Observational study of early diffuse cutaneous systemic sclerosis

Diffuse 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 20 %
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 20 %
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 20 %
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 20 %
Congenital Generalized Lipodystrophy Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). CAV1, BSCL2, AGPAT2, FBN1, KCNJ6, CAVIN1 Specificity 17 % Genes 20 %
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 20 %
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 20 %
Congenital Generalized Lipodystrophy Panel. By Genetic Services Laboratory University of Chicago (United States). CAV1, BSCL2, AGPAT2, FBN1, KCNJ6, CAVIN1 Specificity 17 % Genes 20 %

You can get up to 62 more panels with our dedicated tool

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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