1. Mendelian
  2. Rare Diseases
  3. HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS

Hypocomplementemic Urticarial Vasculitis

Table of contents:

Description

Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.

Genes related to Hypocomplementemic Urticarial Vasculitis

  • DNASE1L3

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Clinical Features

Top most frequent phenotypes and symptoms related to Hypocomplementemic Urticarial Vasculitis

  • Seizures
  • Ataxia
  • Sensorineural hearing impairment
  • Pain
  • Peripheral neuropathy
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Renal insufficiency
  • Abdominal pain

And another 42 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

Hypocomplementemic Urticarial Vasculitis Is also known as mac duffie syndrome, mac duffie hypocomplementemic urticarial vasculitis, anti-c1q vasculitis, mcduffie hypocomplementemic urticarial vasculitis, mcduffie syndrome.

Researches and researchers

Doctors, researchs, and experts related to Hypocomplementemic Urticarial Vasculitis extracted from public data.

Hypocomplementemic Urticarial Vasculitis Experts map



Current Researchs and researchers

  • PARIS — Pr Loïc GUILLEVIN

    Coordinator of expert centre - Clinical expert - Principal investigator of clinical trial - Manager of registry - Contact person of registry - Coordinator of research network

    • Institution/s:
      — CHU Paris Centre - Hôpital Cochin, Site Cochin
    • Research area/topic::

      GFEV: French study group on vasculitis - research organization on necrotising angeitis, systemic diseases and vaccinale research


  • CAMBRIDGE — Dr David JAYNE

    Coordinator of expert centre - Principal investigator of clinical trial - Investigator of clinical trial - Coordinator of research network

    • Institution/s:
      — Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital
    • Research area/topic::

      EUVAS: European vasculitis study group


Hypocomplementemic Urticarial Vasculitis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Systemic lupus erythematosus type 16.

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DNASE1L3
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Genes
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Systemic lupus erythematosus 16: DNASE1L3 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

DNASE1L3
Specificity
100 %
Genes
100 %
DNASE1L3.

By Fulgent Genetics Fulgent Genetics (United States).

DNASE1L3
Specificity
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Genes
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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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