MCID: CHR580
MIFTS: 15

Choroid Plexus Calcification and Mental Retardation

Categories: Eye diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Choroid Plexus Calcification and Mental Retardation

MalaCards integrated aliases for Choroid Plexus Calcification and Mental Retardation:

Name: Choroid Plexus Calcification and Mental Retardation 57
Infantile Choroidocerebral Calcification Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
infantile choroidocerebral calcification syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
choroid plexus calcification and mental retardation:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 215480
ICD10 via Orphanet 34 G93.8
UMLS via Orphanet 73 C1859092
Orphanet 59 ORPHA1313
MedGen 42 C1859092

Summaries for Choroid Plexus Calcification and Mental Retardation

MalaCards based summary : Choroid Plexus Calcification and Mental Retardation, also known as infantile choroidocerebral calcification syndrome, is related to infantile choroidocerebral calcification syndrome. Affiliated tissues include brain and eye, and related phenotypes are seizures and intellectual disability, severe

More information from OMIM: 215480

Related Diseases for Choroid Plexus Calcification and Mental Retardation

Diseases related to Choroid Plexus Calcification and Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 infantile choroidocerebral calcification syndrome 12.5

Symptoms & Phenotypes for Choroid Plexus Calcification and Mental Retardation

Human phenotypes related to Choroid Plexus Calcification and Mental Retardation:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 Very frequent (99-80%) HP:0001250
2 intellectual disability, severe 59 32 Very frequent (99-80%) HP:0010864
3 strabismus 59 32 Very frequent (99-80%) HP:0000486
4 hyperreflexia 59 Very frequent (99-80%)
5 cerebral calcification 59 Very frequent (99-80%)
6 abnormality of metabolism/homeostasis 32 HP:0001939
7 babinski sign 32 HP:0003487
8 intellectual disability, progressive 32 HP:0006887
9 abnormality of the voice 32 HP:0001608
10 increased csf protein 32 HP:0002922
11 hyperactive deep tendon reflexes 32 HP:0006801
12 choroid plexus calcification 32 HP:0006960

Symptoms via clinical synopsis from OMIM:

57
Neuro:
seizures
babinski sign
hyperactive deep tendon reflexes
severe mental retardation

Radiology:
choroid plexus calcification

Lab:
csf protein increased
failure of choroid plexus to take up radiolabeled (99m) tc-pertechnetate

H E E N T:
strabismus

Voice:
'lalling' speech

Clinical features from OMIM:

215480

Drugs & Therapeutics for Choroid Plexus Calcification and Mental Retardation

Search Clinical Trials , NIH Clinical Center for Choroid Plexus Calcification and Mental Retardation

Genetic Tests for Choroid Plexus Calcification and Mental Retardation

Anatomical Context for Choroid Plexus Calcification and Mental Retardation

MalaCards organs/tissues related to Choroid Plexus Calcification and Mental Retardation:

41
Brain, Eye

Publications for Choroid Plexus Calcification and Mental Retardation

Articles related to Choroid Plexus Calcification and Mental Retardation:

# Title Authors PMID Year
1
Choroido-cerebral calcification syndrome with retardation. 8
8232964 1993
2
Familial amentia, unusual ventricular calcifications, and increased cerebrospinal fluid protein. 8
315525 1979
3
Familial choroid plexus calcification and mental retardation. 38
8555726 1995

Variations for Choroid Plexus Calcification and Mental Retardation

Expression for Choroid Plexus Calcification and Mental Retardation

Search GEO for disease gene expression data for Choroid Plexus Calcification and Mental Retardation.

Pathways for Choroid Plexus Calcification and Mental Retardation

GO Terms for Choroid Plexus Calcification and Mental Retardation

Sources for Choroid Plexus Calcification and Mental Retardation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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