MCID: CRB168
MIFTS: 19

Cerebroretinal Microangiopathy with Calcifications and Cysts 2

Categories: Genetic diseases, Neuronal diseases, Eye 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 57 75 6
Crmcc2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
cerebroretinal microangiopathy with calcifications and cysts 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebroretinal Microangiopathy with Calcifications and Cysts 2

UniProtKB/Swiss-Prot : 75 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, CST Complex Subunit). Affiliated tissues include liver, brain and bone, and related phenotypes are osteopenia and ataxia

OMIM : 57 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

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteopenia

Hematology:
pancytopenia
hypocellular bone marrow

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

Abdomen Liver:
portal hypertension
liver fibrosis

Growth Other:
intrauterine growth retardation
poor growth

Abdomen Gastrointestinal:
gastrointestinal bleeding
esophageal varices

Head And Neck Face:
premature aging

Cardiovascular Vascular:
vascular ectasia


Clinical features from OMIM:

617341

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

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 osteopenia 32 HP:0000938
2 ataxia 32 HP:0001251
3 spasticity 32 HP:0001257
4 dystonia 32 HP:0001332
5 portal hypertension 32 HP:0001409
6 intrauterine growth retardation 32 HP:0001511
7 pancytopenia 32 HP:0001876
8 esophageal varix 32 HP:0002040
9 premature graying of hair 32 HP:0002216
10 gastrointestinal hemorrhage 32 HP:0002239
11 retinal telangiectasia 32 HP:0007763

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

Anatomical Context for Cerebroretinal Microangiopathy with Calcifications and Cysts 2

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

41
Liver, Brain, Bone, Bone Marrow

Publications for Cerebroretinal Microangiopathy with Calcifications and Cysts 2

Variations for Cerebroretinal Microangiopathy with Calcifications and Cysts 2

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

75
# Symbol AA change Variation ID SNP ID
1 STN1 p.Arg135Thr VAR_078499 rs1057519583Cerebroretinal
2 STN1 p.Asp157Tyr VAR_078500 rs765462548

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 STN1 NM_024928.4(STN1): c.404G> C (p.Arg135Thr) single nucleotide variant Pathogenic rs1057519583 GRCh37 Chromosome 10, 105659873: 105659873
2 STN1 NM_024928.4(STN1): c.404G> C (p.Arg135Thr) single nucleotide variant Pathogenic rs1057519583 GRCh38 Chromosome 10, 103900115: 103900115
3 STN1 NM_024928.4(STN1): c.469G> T (p.Asp157Tyr) single nucleotide variant Pathogenic rs765462548 GRCh38 Chromosome 10, 103898989: 103898989
4 STN1 NM_024928.4(STN1): c.469G> T (p.Asp157Tyr) single nucleotide variant Pathogenic rs765462548 GRCh37 Chromosome 10, 105658747: 105658747

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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