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Cerebroretinal microangiopathy with calcifications and cysts 2(CRMCC2)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: CRMCC2
Gene (location): STN1 (10q24.33)
Monarch Initiative: MONDO:0015026
OMIM®: 617341

Disease characteristics

Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF. [from GeneReviews]
Sharon A Savage  |  Marena R Niewisch   view full author information

Additional 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 (612199).  http://www.omim.org/entry/617341

Clinical features

From HPO
Portal hypertension
MedGen UID:
Concept ID:
Disease or Syndrome
Increased pressure in the portal vein.
Fetal growth restriction
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Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Growth delay
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Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Esophageal varix
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Disease or Syndrome
Extreme dilation of the submucusoal veins in the lower portion of the esophagus.
Gastrointestinal hemorrhage
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Pathologic Function
Hemorrhage affecting the gastrointestinal tract.
Cerebellar ataxia
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Concept ID:
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Dystonic disorder
MedGen UID:
Concept ID:
Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
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Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
MedGen UID:
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Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
MedGen UID:
Concept ID:
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Premature graying of hair
MedGen UID:
Concept ID:
Development of gray hair at a younger than normal age.
Retinal telangiectasia
MedGen UID:
Concept ID:
Disease or Syndrome
Dilatation of small blood vessels of the retina.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies


López-Cañizares A, Fernandez MP, Al-Khersan H, Carletti P, Arroyo MS, Fernandez-Ruiz MC, Berrocal AM
Ophthalmic Genet 2022 Aug;43(4):543-549. Epub 2022 Apr 13 doi: 10.1080/13816810.2022.2051193. PMID: 35416114
Bisserbe A, Tertian G, Buffet C, Turhan A, Lambotte O, Nasser G, Alvin P, Tardieu M, Riant F, Bergametti F, Tournier-Lasserve E, Denier C
Rev Neurol (Paris) 2015 May;171(5):445-9. Epub 2015 Apr 2 doi: 10.1016/j.neurol.2015.01.566. PMID: 25843205
Toiviainen-Salo S, Linnankivi T, Saarinen A, Mäyränpää MK, Karikoski R, Mäkitie O
Am J Med Genet A 2011 Jun;155A(6):1322-8. Epub 2011 Apr 26 doi: 10.1002/ajmg.a.33994. PMID: 21523908
Armstrong MJ, Hacein-Bey L, Brown H
J Comput Assist Tomogr 2009 Jul-Aug;33(4):571-2. doi: 10.1097/RCT.0b013e31818c0957. PMID: 19638852
Briggs TA, Abdel-Salam GM, Balicki M, Baxter P, Bertini E, Bishop N, Browne BH, Chitayat D, Chong WK, Eid MM, Halliday W, Hughes I, Klusmann-Koy A, Kurian M, Nischal KK, Rice GI, Stephenson JB, Surtees R, Talbot JF, Tehrani NN, Tolmie JL, Toomes C, van der Knaap MS, Crow YJ
Am J Med Genet A 2008 Jan 15;146A(2):182-90. doi: 10.1002/ajmg.a.32080. PMID: 18076099

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