Infantile Systemic Hyalinosis

Table of contents:

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

Description

Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Genes related to Infantile Systemic Hyalinosis

ANTXR2

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Infantile Systemic Hyalinosis

Growth delay
Failure to thrive
Muscular hypotonia
Feeding difficulties
Brachydactyly
Macrocephaly
Short neck
Immunodeficiency
Severe short stature
Osteoporosis

And another 27 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Doctors, researchs, and experts related to Infantile Systemic Hyalinosis extracted from public data.

Infantile Systemic Hyalinosis Experts map

Current Researchs and researchers

LAUSANNE — Pr Gisou VAN DER GOOT
Investigator of research project
- Institution/s:
  — Global Health Institute, EPFL - Ecole Polytechnique Fédérale de Lausanne
- Research area/topic::
  Towards preventing nodule formation in hyaline fibromatosis patients

Infantile Systemic Hyalinosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Lysosomal Storage Disease Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS , (...) View the complete list with 54 more genes Panel complete gene list SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS, CTSC, CTSD, CTSK, HGSNAT, MFSD8, DHCR7, GNPTAB, ATP13A2, AGA, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNS, GPC3, GUSB, HEXA, HEXB, HRAS, HYAL1, IDS, IDUA, LAMP2, LIPA, MAN2B1, MANBA, ARSA, KMT2D, ARSB, ASAH1, NAGA, NAGLU, NEU1, NPC1, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PHYH, CTSA, PPT1, PSAP, PEX19, PEX2, PEX5, RAI1 Specificity 2 % Genes 100 %
Congenital Contractures Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...) View the complete list with 37 more genes Panel complete gene list SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, SCARF2, SLC39A13, CNTN1, ANTXR2, COL3A1, ALG2, ADCY6, CHST14, ZC4H2, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42, ERBB3, ERCC6, FBN1, FBN2, GLE1, RIPK4, LMNA, MUSK, MYBPC1, MYH2, MYH3, MYH8, NEB, CNTNAP1, CHMP1A, PIP5K1C, PITX1, PLOD2, PLOD3, PSMB8, RAPSN Specificity 2 % Genes 100 %
CMG2 (ANTXR2) - Hyalinosis, Infantile Systemic. By Centre of Molecular Diseases (CMM) CHUV (Switzerland). ANTXR2 Specificity 100 % Genes 100 %
ANTXR2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). ANTXR2 Specificity 100 % Genes 100 %
Hyalinosis, Inherited Systemic (sequence analysis of ANTXR2 gene). By CGC Genetics (Portugal). ANTXR2 Specificity 100 % Genes 100 %
Hyaline Fibromatosis Syndrome via ANTXR2 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ANTXR2 Specificity 100 % Genes 100 %
Hyaline fibromatosis syndrome. By Centogene AG - the Rare Disease Company (Germany). ANTXR2 Specificity 100 % Genes 100 %
Lysosomal Disorders NGS Panel. By Fulgent Genetics Fulgent Genetics (United States). SGSH, SLC17A5, SLC25A15, SMPD1, BTD, SUOX, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, ACY1, SUMF1, L2HGDH, TPP1, CLN3, CLN5, CLN6, CLN8, DYM , (...) View the complete list with 85 more genes Panel complete gene list SGSH, SLC17A5, SLC25A15, SMPD1, BTD, SUOX, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, ACY1, SUMF1, L2HGDH, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNPTG, LMBRD1, GNE, CTNS, CTSC, CTSD, CTSK, HGSNAT, MFSD8, DHCR7, ADSL, GNPTAB, DPYD, ATP13A2, SLC46A1, AGA, ETFA, ETFB, ETFDH, FH, FOLR1, FUCA1, ALDH4A1, GAA, ALDH5A1, GALC, GALNS, GAMT, GBA, GCDH, GCSH, GLA, GLB1, GLDC, GM2A, GNS, GPC3, GUSB, AMT, HEXA, HEXB, HPD, HRAS, HYAL1, IDS, IDUA, ABCC8, LAMA2, LAMP2, LIPA, ARG1, MAN2B1, MANBA, ARSA, ARSB, MOCS1, MOCS2, ASAH1, ASPA, NAGA, NAGLU, NEU1, NPC1, ALDH7A1, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PGK1, PHYH, CTSA, PPT1, PRODH, PSAP, PEX19, PEX5, QDPR, RAI1 Specificity 1 % Genes 100 %