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  3. CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2; CRMCC2

Cerebroretinal Microangiopathy With Calcifications And Cysts 2; Crmcc2

Table of contents:

Description

CRMCC2 is an autosomal recessive multisystem disorder characterized by premature aging, pancytopenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding. Brain imaging shows intracranial calcifications and leukodystrophy, which may result in neurologic signs including spasticity, ataxia, or dystonia. Patients may also have retinal telangiectasia (summary by Simon et al., 2016).For a discussion of genetic heterogeneity of CRMCC, see CRMCC1 (OMIM ).

Genes related to Cerebroretinal Microangiopathy With Calcifications And Cysts 2; Crmcc2

  • STN1

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Clinical Features

Top most frequent phenotypes and symptoms related to Cerebroretinal Microangiopathy With Calcifications And Cysts 2; Crmcc2

  • Ataxia
  • Growth delay
  • Spasticity
  • Hypertension
  • Intrauterine growth retardation
  • Dystonia
  • Osteopenia
  • Gastrointestinal hemorrhage
  • Cerebral calcification
  • Pancytopenia

And another 7 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.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Cerebroretinal Microangiopathy With Calcifications And Cysts 2; Crmcc2 Recommended genes panels

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Specificity
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Genes
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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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