MCID: CRB144
MIFTS: 16

Cerebral-Cerebellar-Coloboma Syndrome, X-Linked

Categories: Fetal diseases, Neuronal 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 58 13 6 74
X-Linked Cerebral-Cerebellar-Coloboma Syndrome 60
X-Linked Intellectual Disability, Kroes Type 60

Characteristics:

Orphanet epidemiological data:

60
x-linked cerebral-cerebellar-coloboma syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
x-linked recessive

Miscellaneous:
one family reported (as of november 2011)


HPO:

33
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 WDR45 (WD Repeat Domain 45). Related phenotypes are macrocephaly and low-set ears

Description from OMIM: 300864

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

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

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

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 HP:0000256
2 low-set ears 33 HP:0000369
3 agenesis of corpus callosum 33 HP:0001274
4 hydrocephalus 33 HP:0000238
5 seizures 33 HP:0001250
6 global developmental delay 33 HP:0001263
7 apnea 33 HP:0002104
8 chorioretinal coloboma 33 HP:0000567
9 abnormality of the ribs 33 HP:0000772
10 generalized hypotonia 33 HP:0001290
11 meckel diverticulum 33 HP:0002245
12 posteriorly rotated ears 33 HP:0000358
13 aplasia/hypoplasia of the cerebellar vermis 33 HP:0006817
14 abnormality of the posterior cranial fossa 33 HP:0000932
15 central hypotonia 33 HP:0011398
16 dilation of lateral ventricles 33 HP:0006956

Symptoms via clinical synopsis from OMIM:

58
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

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

ClinVar genetic disease variations for Cerebral-Cerebellar-Coloboma Syndrome, X-Linked:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR45 NM_007075.3(WDR45): c.400C> T (p.Arg134Ter) single nucleotide variant Pathogenic/Likely pathogenic rs797046101 GRCh37 Chromosome X, 48934128: 48934128
2 WDR45 NM_007075.3(WDR45): c.400C> T (p.Arg134Ter) single nucleotide variant Pathogenic/Likely pathogenic rs797046101 GRCh38 Chromosome X, 49076469: 49076469
3 WDR45 NM_007075.3(WDR45): c.161_163delTGG (p.Val54del) deletion Conflicting interpretations of pathogenicity rs864309661 GRCh38 Chromosome X, 49077715: 49077717
4 WDR45 NM_007075.3(WDR45): c.161_163delTGG (p.Val54del) deletion Conflicting interpretations of pathogenicity rs864309661 GRCh37 Chromosome X, 48935374: 48935376
5 WDR45 NM_007075.3(WDR45): c.131-11_145del deletion Pathogenic GRCh37 Chromosome X, 48935391: 48935417
6 WDR45 NM_007075.3(WDR45): c.131-11_145del deletion Pathogenic GRCh38 Chromosome X, 49077733: 49077758

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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