Cerebroretinal Microangiopathy With Calcifications And Cysts 2; Crmcc2
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
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.
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
Panel Name, Specifity and genes Tested/covered |
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STN1
Specificity
100 %
Genes
100 % |
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Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME; PVHH SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS PFEIFFER SYNDROME TYPE 1 GALACTOSE EPIMERASE DEFICIENCY HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE ALPORT SYNDROME, AUTOSOMAL DOMINANT ATAXIA-OCULOMOTOR APRAXIA 4; AOA4