CRMCC2
MCID: CRB168
MIFTS: 21

Cerebroretinal Microangiopathy with Calcifications and Cysts 2 (CRMCC2)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebroretinal Microangiopathy with Calcifications and Cysts 2

MalaCards integrated aliases for Cerebroretinal Microangiopathy with Calcifications and Cysts 2:

Name: Cerebroretinal Microangiopathy with Calcifications and Cysts 2 56 73 29 6
Crmcc2 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated patients have been reported (last curated february 2017)


HPO:

31
cerebroretinal microangiopathy with calcifications and cysts 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebroretinal Microangiopathy with Calcifications and Cysts 2

UniProtKB/Swiss-Prot : 73 Cerebroretinal microangiopathy with calcifications and cysts 2: An autosomal recessive, multisystemic disorder characterized by intrauterine growth retardation and, later in life, premature aging symptoms, including poor growth, graying hair, liver fibrosis, portal hypertension, esophageal varices, osteopenia, pancytopenia, hypocellular bone marrow, and vascular telangiectasia resulting in gastrointestinal bleeding. Brain calcifications and white matter changes are responsible for signs including spasticity, ataxia, or dystonia observed in some patients.

MalaCards based summary : Cerebroretinal Microangiopathy with Calcifications and Cysts 2, is also known as crmcc2. An important gene associated with Cerebroretinal Microangiopathy with Calcifications and Cysts 2 is STN1 (STN1 Subunit Of CST Complex). Affiliated tissues include bone, bone marrow and brain, and related phenotypes are spasticity and ataxia

OMIM : 56 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). (617341)

Related Diseases for Cerebroretinal Microangiopathy with Calcifications and Cysts 2

Diseases in the Cerebroretinal Microangiopathy with Calcifications and Cysts 1 family:

Cerebroretinal Microangiopathy with Calcifications and Cysts 2

Symptoms & Phenotypes for Cerebroretinal Microangiopathy with Calcifications and Cysts 2

Human phenotypes related to Cerebroretinal Microangiopathy with Calcifications and Cysts 2:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 ataxia 31 HP:0001251
3 osteopenia 31 HP:0000938
4 intrauterine growth retardation 31 HP:0001511
5 portal hypertension 31 HP:0001409
6 pancytopenia 31 HP:0001876
7 gastrointestinal hemorrhage 31 HP:0002239
8 dystonia 31 HP:0001332
9 premature graying of hair 31 HP:0002216
10 esophageal varix 31 HP:0002040
11 retinal telangiectasia 31 HP:0007763

Symptoms via clinical synopsis from OMIM:

56
Skeletal:
osteopenia

Abdomen Liver:
portal hypertension
liver fibrosis

Head And Neck Eyes:
retinal telangiectasia

Skin Nails Hair Hair:
premature graying of the hair

Neurologic Central Nervous System:
white matter changes
spasticity (patient 1)
dystonia (patient 1)
ataxia (patient 1)
brain calcifications

Laboratory Abnormalities:
fibroblasts show premature senescence
increased apoptosis
telomere defects
defective dna damage response and repair

Growth Other:
intrauterine growth retardation
poor growth

Hematology:
pancytopenia
hypocellular bone marrow

Abdomen Gastrointestinal:
gastrointestinal bleeding
esophageal varices

Head And Neck Face:
premature aging

Cardiovascular Vascular:
vascular ectasia

Clinical features from OMIM:

617341

Drugs & Therapeutics for Cerebroretinal Microangiopathy with Calcifications and Cysts 2

Search Clinical Trials , NIH Clinical Center for Cerebroretinal Microangiopathy with Calcifications and Cysts 2

Genetic Tests for Cerebroretinal Microangiopathy with Calcifications and Cysts 2

Genetic tests related to Cerebroretinal Microangiopathy with Calcifications and Cysts 2:

# Genetic test Affiliating Genes
1 Cerebroretinal Microangiopathy with Calcifications and Cysts 2 29 STN1

Anatomical Context for Cerebroretinal Microangiopathy with Calcifications and Cysts 2

MalaCards organs/tissues related to Cerebroretinal Microangiopathy with Calcifications and Cysts 2:

40
Bone, Bone Marrow, Brain, Liver, Eye

Publications for Cerebroretinal Microangiopathy with Calcifications and Cysts 2

Articles related to Cerebroretinal Microangiopathy with Calcifications and Cysts 2:

# Title Authors PMID Year
1
Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects. 56 6
27432940 2016

Variations for Cerebroretinal Microangiopathy with Calcifications and Cysts 2

ClinVar genetic disease variations for Cerebroretinal Microangiopathy with Calcifications and Cysts 2:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STN1 NM_024928.5(STN1):c.404G>C (p.Arg135Thr)SNV Pathogenic 375591 rs1057519583 10:105659873-105659873 10:103900115-103900115
2 STN1 NM_024928.5(STN1):c.469G>T (p.Asp157Tyr)SNV Pathogenic 375592 rs765462548 10:105658747-105658747 10:103898989-103898989

UniProtKB/Swiss-Prot genetic disease variations for Cerebroretinal Microangiopathy with Calcifications and Cysts 2:

73
# Symbol AA change Variation ID SNP ID
1 STN1 p.Arg135Thr VAR_078499 rs105751958
2 STN1 p.Asp157Tyr VAR_078500 rs765462548

Expression for Cerebroretinal Microangiopathy with Calcifications and Cysts 2

Search GEO for disease gene expression data for Cerebroretinal Microangiopathy with Calcifications and Cysts 2.

Pathways for Cerebroretinal Microangiopathy with Calcifications and Cysts 2

GO Terms for Cerebroretinal Microangiopathy with Calcifications and Cysts 2

Sources for Cerebroretinal Microangiopathy with Calcifications and Cysts 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....