MCID: INF139
MIFTS: 9

Infantile Choroidocerebral Calcification Syndrome

Categories: Rare diseases

Aliases & Classifications for Infantile Choroidocerebral Calcification Syndrome

MalaCards integrated aliases for Infantile Choroidocerebral Calcification Syndrome:

Name: Infantile Choroidocerebral Calcification Syndrome 52
Choroido-Cerebral Calcification Syndrome with Retardation 52

Classifications:



Summaries for Infantile Choroidocerebral Calcification Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1313 Definition This syndrome is characterized by intellectual deficit, calcification of the choroid plexus, and elevated levels of cerebrospinal fluid (CSF) protein . It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus , hyperactive deep tendon reflexes and foot deformities. Visit the Orphanet disease page for more resources.

MalaCards based summary : Infantile Choroidocerebral Calcification Syndrome, also known as choroido-cerebral calcification syndrome with retardation, is related to choroid plexus calcification and mental retardation. Related phenotypes are seizures and hyperreflexia

Related Diseases for Infantile Choroidocerebral Calcification Syndrome

Diseases related to Infantile Choroidocerebral Calcification Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 choroid plexus calcification and mental retardation 11.6

Symptoms & Phenotypes for Infantile Choroidocerebral Calcification Syndrome

Human phenotypes related to Infantile Choroidocerebral Calcification Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 seizures 31 hallmark (90%) HP:0001250
2 hyperreflexia 31 hallmark (90%) HP:0001347
3 cerebral calcification 31 hallmark (90%) HP:0002514
4 intellectual disability, severe 31 hallmark (90%) HP:0010864
5 strabismus 31 hallmark (90%) HP:0000486

Drugs & Therapeutics for Infantile Choroidocerebral Calcification Syndrome

Search Clinical Trials , NIH Clinical Center for Infantile Choroidocerebral Calcification Syndrome

Genetic Tests for Infantile Choroidocerebral Calcification Syndrome

Anatomical Context for Infantile Choroidocerebral Calcification Syndrome

Publications for Infantile Choroidocerebral Calcification Syndrome

Articles related to Infantile Choroidocerebral Calcification Syndrome:

# Title Authors PMID Year
1
Choroido-cerebral calcification syndrome with retardation. 61
8232964 1993

Variations for Infantile Choroidocerebral Calcification Syndrome

Expression for Infantile Choroidocerebral Calcification Syndrome

Search GEO for disease gene expression data for Infantile Choroidocerebral Calcification Syndrome.

Pathways for Infantile Choroidocerebral Calcification Syndrome

GO Terms for Infantile Choroidocerebral Calcification Syndrome

Sources for Infantile Choroidocerebral Calcification Syndrome

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
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