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 57 13 6 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 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

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

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 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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