MCID: CHR580
MIFTS: 16

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 58

Characteristics:

Orphanet epidemiological data:

58
infantile choroidocerebral calcification syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
choroid plexus calcification and mental retardation:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


External Ids:

OMIM® 57 215480
ICD10 via Orphanet 33 G93.8
UMLS via Orphanet 71 C1859092
Orphanet 58 ORPHA1313
MedGen 41 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 eye and brain, and related phenotypes are intellectual disability, severe and strabismus

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 11.4

Symptoms & Phenotypes for Choroid Plexus Calcification and Mental Retardation

Human phenotypes related to Choroid Plexus Calcification and Mental Retardation:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, severe 58 31 Very frequent (99-80%) HP:0010864
2 strabismus 58 31 Very frequent (99-80%) HP:0000486
3 seizures 58 Very frequent (99-80%)
4 hyperreflexia 58 Very frequent (99-80%)
5 cerebral calcification 58 Very frequent (99-80%)
6 intellectual disability, progressive 31 HP:0006887
7 abnormality of the voice 31 HP:0001608
8 abnormality of metabolism/homeostasis 31 HP:0001939
9 babinski sign 31 HP:0003487
10 hyperactive deep tendon reflexes 31 HP:0006801
11 increased csf protein 31 HP:0002922
12 choroid plexus calcification 31 HP:0006960
13 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

40
Eye, Brain

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. 57
8232964 1993
2
Familial amentia, unusual ventricular calcifications, and increased cerebrospinal fluid protein. 57
315525 1979
3
Familial choroid plexus calcification and mental retardation. 61
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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