Infantile Systemic Hyalinosis

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.

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.

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Incidence and onset information

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



Mendelian

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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
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
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
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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