MCID: CRB144
MIFTS: 15

Cerebral-Cerebellar-Coloboma Syndrome, X-Linked

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Cerebral-Cerebellar-Coloboma Syndrome, X-Linked

MalaCards integrated aliases for Cerebral-Cerebellar-Coloboma Syndrome, X-Linked:

Name: Cerebral-Cerebellar-Coloboma Syndrome, X-Linked 57 13 73
X-Linked Cerebral-Cerebellar-Coloboma Syndrome 59
X-Linked Intellectual Disability, Kroes Type 59

Characteristics:

Orphanet epidemiological data:

59
x-linked cerebral-cerebellar-coloboma syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
one family reported (as of november 2011)


HPO:

32
cerebral-cerebellar-coloboma syndrome, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Cerebral-Cerebellar-Coloboma Syndrome, X-Linked

MalaCards based summary : Cerebral-Cerebellar-Coloboma Syndrome, X-Linked, is also known as x-linked cerebral-cerebellar-coloboma syndrome, and has symptoms including seizures An important gene associated with Cerebral-Cerebellar-Coloboma Syndrome, X-Linked is CCCSX (Cerebral-Cerebellar-Coloboma Syndrome, X-Linked). Related phenotypes are hydrocephalus and macrocephaly

Description from OMIM: 300864

Related Diseases for Cerebral-Cerebellar-Coloboma Syndrome, X-Linked

Symptoms & Phenotypes for Cerebral-Cerebellar-Coloboma Syndrome, X-Linked

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
hydrocephalus

Neurologic Central Nervous System:
agenesis of corpus callosum
hydrocephalus
seizures
hypotonia
agenesis or severe hypoplasia of cerebellar vermis
more
Abdomen Gastrointestinal:
meckel diverticulum

Respiratory:
hyperpnea, periodic apnea, periodic

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Eyes:
chorioretinal coloboma

Cardiovascular Vascular:
aberrant origin of right subclavian artery

Chest Ribs Sternum Clavicles And Scapulae:
thirteen ribs


Clinical features from OMIM:

300864

Human phenotypes related to Cerebral-Cerebellar-Coloboma Syndrome, X-Linked:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 HP:0000238
2 macrocephaly 32 HP:0000256
3 posteriorly rotated ears 32 HP:0000358
4 low-set ears 32 HP:0000369
5 chorioretinal coloboma 32 HP:0000567
6 abnormality of the ribs 32 HP:0000772
7 abnormality of the posterior cranial fossa 32 HP:0000932
8 seizures 32 HP:0001250
9 global developmental delay 32 HP:0001263
10 agenesis of corpus callosum 32 HP:0001274
11 generalized hypotonia 32 HP:0001290
12 apnea 32 HP:0002104
13 meckel diverticulum 32 HP:0002245
14 aplasia/hypoplasia of the cerebellar vermis 32 HP:0006817
15 dilation of lateral ventricles 32 HP:0006956
16 central hypotonia 32 HP:0011398

UMLS symptoms related to Cerebral-Cerebellar-Coloboma Syndrome, X-Linked:


seizures

Drugs & Therapeutics for Cerebral-Cerebellar-Coloboma Syndrome, X-Linked

Search Clinical Trials , NIH Clinical Center for Cerebral-Cerebellar-Coloboma Syndrome, X-Linked

Genetic Tests for Cerebral-Cerebellar-Coloboma Syndrome, X-Linked

Anatomical Context for Cerebral-Cerebellar-Coloboma Syndrome, X-Linked

Publications for Cerebral-Cerebellar-Coloboma Syndrome, X-Linked

Variations for Cerebral-Cerebellar-Coloboma Syndrome, X-Linked

Expression for Cerebral-Cerebellar-Coloboma Syndrome, X-Linked

Search GEO for disease gene expression data for Cerebral-Cerebellar-Coloboma Syndrome, X-Linked.

Pathways for Cerebral-Cerebellar-Coloboma Syndrome, X-Linked

GO Terms for Cerebral-Cerebellar-Coloboma Syndrome, X-Linked

Sources for Cerebral-Cerebellar-Coloboma Syndrome, X-Linked

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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