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Cerebroretinal microangiopathy with calcifications and cysts 3(CRMCC3)

MedGen UID:: 1841133
•Concept ID:: C5830497
•: Disease or Syndrome

Synonym:	CRMCC3

Gene (location): Gene(s) directly associated with this condition or phenotype.	POT1 (7q31.33)

Monarch Initiative:	MONDO:0957264
OMIM®:	620368

Definition

Cerebroretinal microangiopathy with calcifications and cysts-3 (CRMCC3) is an autosomal recessive disorder characterized by intrauterine growth retardation, retinal exudates, intracranial calcifications, and leukoencephalopathy. Additional features may include global developmental delay and gastrointestinal ectasias. Telomeres may be elongated, but truncated shortened telomeres are present in some tissues (Takai et al., 2016). For a discussion of genetic heterogeneity of CRMCC, see CRMCC1 (612199). [from OMIM]

Clinical features

From HPO

Urinary incontinence

MedGen UID:: 22579
•Concept ID:: C0042024
•: Finding

Loss of the ability to control the urinary bladder leading to involuntary urination.

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Fetal growth restriction

MedGen UID:: 4693
•Concept ID:: C0015934
•: Pathologic Function

An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.

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Gastrointestinal hemorrhage

MedGen UID:: 8971
•Concept ID:: C0017181
•: Pathologic Function

Hemorrhage affecting the gastrointestinal tract.

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Feeding difficulties

MedGen UID:: 65429
•Concept ID:: C0232466
•: Finding

Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.

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Leukoencephalopathy

MedGen UID:: 78722
•Concept ID:: C0270612
•: Disease or Syndrome

This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.

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Inability to walk

MedGen UID:: 107860
•Concept ID:: C0560046
•: Finding

Incapability to ambulate.

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Absent speech

MedGen UID:: 340737
•Concept ID:: C1854882
•: Finding

Complete lack of development of speech and language abilities.

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Recurrent fractures

MedGen UID:: 42094
•Concept ID:: C0016655
•: Injury or Poisoning

The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).

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Cerebral calcification

MedGen UID:: 124360
•Concept ID:: C0270685
•: Finding

The presence of calcium deposition within the cerebrum.

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Retinal exudate

MedGen UID:: 116111
•Concept ID:: C0240897
•: Finding

Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina.

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Abnormality of the digestive system
- Feeding difficulties
- Gastrointestinal hemorrhage
Abnormality of the eye
- Retinal exudate
Abnormality of the musculoskeletal system
- Cerebral calcification
- Recurrent fractures
Abnormality of the nervous system
Constitutional symptom
- Urinary incontinence
Growth abnormality
- Fetal growth restriction

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCoats plus syndrome
- CROGVCerebroretinal microangiopathy with calcifications and cysts 1
- CROGVCerebroretinal microangiopathy with calcifications and cysts 2
- CROGVCerebroretinal microangiopathy with calcifications and cysts 3

Genetic cerebral small vessel disease
- Coats plus syndrome
  - Cerebroretinal microangiopathy with calcifications and cysts 3

Recent clinical studies

Diagnosis

Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.

Netravathi M, Kumari R, Kapoor S, Dakle P, Dwivedi MK, Roy SD, Pandey P, Saini J, Ramakrishna A, Navalli D, Satishchandra P, Pal PK, Kumar A, Faruq M
BMC Med Genet 2015 Feb 10;16:5. doi: 10.1186/s12881-015-0151-8. PMID: 25928698 Free PMC Article

Cerebroretinal microangiopathy with calcifications and cysts: characterization of the skeletal phenotype.

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

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Clinical prediction guides

A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus.

Takai H, Jenkinson E, Kabir S, Babul-Hirji R, Najm-Tehrani N, Chitayat DA, Crow YJ, de Lange T
Genes Dev 2016 Apr 1;30(7):812-26. Epub 2016 Mar 24 doi: 10.1101/gad.276873.115. PMID: 27013236 Free PMC Article

Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.

Polvi A, Linnankivi T, Kivelä T, Herva R, Keating JP, Mäkitie O, Pareyson D, Vainionpää L, Lahtinen J, Hovatta I, Pihko H, Lehesjoki AE
Am J Hum Genet 2012 Mar 9;90(3):540-9. Epub 2012 Mar 1 doi: 10.1016/j.ajhg.2012.02.002. PMID: 22387016 Free PMC Article

See all (3)

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Cerebroretinal microangiopathy with calcifications and cysts 3(CRMCC3)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Diagnosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

Recent activity