Shwachman-diamond Syndrome

Table of contents:

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

Description

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

Genes related to Shwachman-diamond Syndrome

SBDS
SRP54
DNAJC21
EFL1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Shwachman-diamond Syndrome

Intellectual disability
Global developmental delay
Short stature
Generalized hypotonia
Scoliosis
Growth delay
Neoplasm
Failure to thrive
Anemia
Hepatomegaly

And another 62 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available SHWACHMAN-DIAMOND SYNDROME have a estimated prevalence of 0.28 per 100k in Europe.
— The onset for some of the known clinical features related to this disease may vary, including infantile onset, and infantile onset .

Alternative names

Shwachman-diamond Syndrome Is also known as pancreatic insufficiency and bone marrow dysfunction, shwachman syndrome, shwachman-bodian syndrome, shwachman-diamond syndrome, shwachman-bodian-diamond syndrome, sds, lipomatosis of pancreas, congenital.

Researches and researchers

Doctors, researchs, and experts related to Shwachman-diamond Syndrome extracted from public data.

Shwachman-diamond Syndrome Experts map

Current Researchs and researchers

TORONTO — Dr Johanna M ROMMENS
Investigator of research project
- Institution/s:
  — Hospital for Sick Children, Research Institute
- Research area/topic::
  Pathobiology and robosomal insufficiency in Shwachman-Diamond syndrome

PARIS — Dr Thierry LEBLANC
Coordinator of expert centre - Clinical expert - Investigator of research project - Contact person of registry
- Institution/s:
  — Pôle de pédiatrie médicale, CHU Paris - Hôpital Robert Debré
  — CHU Paris - Hôpital Robert Debré
  — CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
- Research area/topic::
  Constitutive hematologic diseases: clinical and therapeutic research, molecular biology

PARIS — Pr Nicolas LEULLIOT
Investigator of research project
- Institution/s:
  — CNRS UMR 8015, Faculté de médecine Paris-Descartes, Site Necker
- Research area/topic::
  RNPgenesis: Structure and function of ribonucleoprotein complexes assembly factors involved in human pathologies

FREIBURG — Pr Charlotte NIEMEYER
Coordinator of expert centre - Clinical expert - Responsible for diagnostic tests - Principal investigator of clinical trial - Investigator of research project - Manager of registry - Coordinator of research network - Director of laboratory
- Institution/s:
  — Universitätsklinikum Freiburg
  — Zentrum für Kinder- und Jugendmedizin Freiburg
- Research area/topic::
  EWOG-MDS-RC-06: TCR Vbeta repertoire and PNH clones in children with Refractory Cytopenia (RC). An open nonrandomised multicenter prospective study

HANNOVER — Pr Karl H. WELTE
Clinical expert - Investigator of research project - Manager of registry - Manager of biobank/collection - Coordinator of research network - Coordinator of patient registry network - Director of department
- Institution/s:
  — Zentrum für Kinderheilkunde und Jugendmedizin, Medizinische Hochschule Hannover
  — Zentrum für Kinderheilkunde und Jugendmedizin, Medizinische Hochschule Hannover
  — Behandlungs- und Forschungszentrum für Seltene Erkrankungen ZSE Tübingen
  — Universitätsklinik für Kinder- und Jugendmedizin Tübingen
  — Zentrum für Kinderheilkunde und Jugendmedizin, Medizinische Hochschule Hannover
- Research area/topic::
  BMFS: Network for Congenital Bone Marrow Failure Syndromes

TÜBINGEN — Pr Karl H. WELTE
Clinical expert - Investigator of research project - Manager of registry - Manager of biobank/collection - Coordinator of research network - Coordinator of patient registry network - Director of department
- Institution/s:
  — Zentrum für Kinderheilkunde und Jugendmedizin, Medizinische Hochschule Hannover
  — Zentrum für Kinderheilkunde und Jugendmedizin, Medizinische Hochschule Hannover
  — Behandlungs- und Forschungszentrum für Seltene Erkrankungen ZSE Tübingen
  — Universitätsklinik für Kinder- und Jugendmedizin Tübingen
  — Zentrum für Kinderheilkunde und Jugendmedizin, Medizinische Hochschule Hannover
- Research area/topic::
  BMFS: Network for Congenital Bone Marrow Failure Syndromes

MONZA — Dr Giovanni CAZZANIGA
Investigator of research project
- Institution/s:
  — Clinica Pediatrica - Università di Milano Bicocca, Azienda Ospedaliera San Gerardo
- Research area/topic::
  Characterization of molecular and genetic events leading the malignant transformation in Shwachman-Diamond Syndrome patients

VARESE — Pr Francesco PASQUALI
Investigator of research project
- Institution/s:
  — Dipartimento di Medicina Clinica e Sperimentale, Università dell'Insubria
- Research area/topic::
  Karyotype instability and risk of myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML) in Shwachman-Diamond Syndrome (SDS) investigated by Comparative Genomic Hybridization on microarray (a-CGH)

VERONA — Dr Simone CESARO
Coordinator of expert centre - Investigator of research project
- Institution/s:
  — Azienda Ospedaliera Universitaria Integrata di Verona - Ospedale Borgo Trento
- Research area/topic::
  Evaluation of immunophenotipic features in Shwachman- Diamond patients

Shwachman-diamond Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Leukemia/Lymphoma Panel. By Baylor Miraca Genetics Laboratories (United States). RUNX1, BRCA2, TP53, CBL, CEBPA, SBDS, BRIP1, PALB2, GATA2, ATM, PAX5, PRF1, PTPN11 Specificity 8 % Genes 25 %
Comprehensive Hereditary Cancer Panel. By Baylor Miraca Genetics Laboratories (United States). RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...) View the complete list with 39 more genes Panel complete gene list RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A, CEBPA, SBDS, BRIP1, SDHAF2, TMEM127, PALB2, FLCN, ENG, FH, GATA2, ALK, GPC3, APC, SMAD4, MAX, MEN1, MET, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF2, ATM, PAX5, PMS1, PMS2, PHOX2B, PRF1, PRKAR1A, BARD1, PTCH1, PTEN, PTPN11, RAD50, RAD51C, RAD51D, RET Specificity 2 % Genes 25 %
Test for Shwachman-Diamond Syndrome. By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands). SBDS Specificity 100 % Genes 25 %
Bone Marrow Failure. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). RPL11, RPL35A, RPL5, RPS10, RPS15, RPS19, RPS24, RPS26, RPS27A, RPS7, BRCA2, SRP72, TERT, THPO, TINF2, XRCC2, RPL36, NHP2, NOP10, SBDS , (...) View the complete list with 23 more genes Panel complete gene list RPL11, RPL35A, RPL5, RPS10, RPS15, RPS19, RPS24, RPS26, RPS27A, RPS7, BRCA2, SRP72, TERT, THPO, TINF2, XRCC2, RPL36, NHP2, NOP10, SBDS, BRIP1, FANCL, FANCM, SLX4, WRAP53, FANCI, USB1, PALB2, CTC1, DKC1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, GATA1, MPL, NBN, PRF1, RAD51C Specificity 3 % Genes 25 %
SBDS Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SBDS Specificity 100 % Genes 25 %
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). RMRP, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1 , (...) View the complete list with 40 more genes Panel complete gene list RMRP, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1, NHP2, NOP10, VPS45, RTEL1, HAX1, SBDS, LYST, BRIP1, FANCL, VPS13B, FANCM, SLX4, CSF3R, G6PC3, WRAP53, FANCI, CXCR4, USB1, PALB2, DKC1, LAMTOR2, ELANE, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, SLC37A4, GATA1, GATA2, GFI1, AP3B1, MPL, RAB27A, RAC2, RAD51C, RBM8A Specificity 2 % Genes 25 %
Inherited Neutropenia panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). TAZ, WAS, WIPF1, VPS45, HAX1, SBDS, LYST, VPS13B, CSF3R, G6PC3, CXCR4, USB1, LAMTOR2, ELANE, SLC37A4, GATA1, GATA2, GFI1, AP3B1, RAB27A , (...) View the complete list with 1 more genes Panel complete gene list TAZ, WAS, WIPF1, VPS45, HAX1, SBDS, LYST, VPS13B, CSF3R, G6PC3, CXCR4, USB1, LAMTOR2, ELANE, SLC37A4, GATA1, GATA2, GFI1, AP3B1, RAB27A, RAC2 Specificity 5 % Genes 25 %
Pancreas Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SPINK1, CASR, UBR1, CEL, CFTR, SBDS, CLDN2, CPA1, CTRC, PRSS1 Specificity 10 % Genes 25 %

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Sources and references

You can check the following sources for additional information.

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