Combined Immunodeficiency-enteropathy Spectrum

Clinical Features

Top most frequent phenotypes and symptoms related to Combined Immunodeficiency-enteropathy Spectrum

  • Intrauterine growth retardation
  • Ventricular septal defect
  • Immunodeficiency
  • Polyhydramnios
  • Sparse hair
  • Autoimmunity
  • Nail dystrophy
  • Abdominal distention
  • Intestinal malrotation
  • Hepatitis

And another 20 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.

Alternative names

Combined Immunodeficiency-enteropathy Spectrum Is also known as cid-mia/early-onset ibd.

Researches and researchers

Doctors, researchs, and experts related to Combined Immunodeficiency-enteropathy Spectrum extracted from public data.

Combined Immunodeficiency-enteropathy Spectrum Experts map



Current Researchs and researchers

  • FREIBURG — Pr Klaus WARNATZ

    Clinical expert - Investigator of research project

    • Institution/s:
      — Universit√§tsklinikum Freiburg
      — CCI am Universit√§tsklinikum Freiburg
    • Research area/topic::

      Discovery and Evaluation of new Combined Immunodeficiency Disease Entities (DECIDE)



Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Combined Immunodeficiency-enteropathy Spectrum Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TTC7A Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

TTC7A
Specificity
100 %
Genes
100 %
TTC7A Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

TTC7A
Specificity
100 %
Genes
100 %
Autosomal recessive early-onset inflammatory bowel disease (sequence analysis of TTC7A gene).

By CGC Genetics (Portugal).

TTC7A
Specificity
100 %
Genes
100 %
Intestinal atresia, multiple.

By Centogene AG - the Rare Disease Company (Germany).

TTC7A
Specificity
100 %
Genes
100 %
Combined immunodeficiencies Panel.

By CeGaT GmbH (Germany).

RMRP, SEMA3E, STAT5B, STIM1, STK4, TAPBP, TBX1, THBD, TNFRSF4, CD40, CD27, CD40LG, TRAC, ACP5, FOXN1, ZAP70, CARD11, CD3D, CD3E, CD3G , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Invitae Monogenic Inflammatory Bowel Disease Panel.

By Invitae (United States).

SH2D1A, BTK, STAT1, STAT3, STIM1, STXBP2, CD40LG, WAS, ZAP70, AICDA, RTEL1, NLRC4, CD3G, LRBA, DCLRE1C, ADA, DOCK8, ADAM17, TTC7A, G6PC3 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae (United States).

RMRP, RORC, SEMA3E, SH2D1A, SH3BP2, SLC7A7, SMARCAL1, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TAZ, TBK1, TCN2 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Invitae Syndromic Combined Immunodeficiency (CID) Panel.

By Invitae (United States).

RMRP, SEMA3E, SMARCAL1, STAT3, STAT5B, STIM1, TBX1, TCN2, TERC, TERT, TINF2, WAS, WIPF1, FOXN1, NHP2, NOP10, SPINK5, RTEL1, DCLRE1B, TTC7A , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %

We have 5 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VOGT-KOYANAGI-HARADA DISEASE PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15 COFFIN-SIRIS SYNDROME 4; CSS4 IMMUNODEFICIENCY 12; IMD12 FAMILIAL THROMBOCYTOSIS

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more