MCID: CRB144
MIFTS: 22

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 70
X-Linked Cerebral-Cerebellar-Coloboma Syndrome 58
X-Linked Intellectual Disability, Kroes Type 58

Characteristics:

Orphanet epidemiological data:

58
x-linked cerebral-cerebellar-coloboma syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked recessive

Miscellaneous:
one family reported (as of november 2011)


HPO:

31
cerebral-cerebellar-coloboma syndrome, x-linked:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


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). Affiliated tissues include eye and cortex, and related phenotypes are intellectual disability and hydrocephalus

More information 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:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
3 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
4 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
5 chorioretinal coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000567
6 episodic tachypnea 58 31 frequent (33%) Frequent (79-30%) HP:0002876
7 abnormality of brainstem morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002363
8 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
9 abnormality of the cerebral cortex 58 31 frequent (33%) Frequent (79-30%) HP:0002538
10 apneic episodes in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0005949
11 nasogastric tube feeding 58 31 frequent (33%) Frequent (79-30%) HP:0040288
12 seizure 31 frequent (33%) HP:0001250
13 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
14 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
15 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
16 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
17 thick nasal alae 58 31 occasional (7.5%) Occasional (29-5%) HP:0009928
18 retrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000278
19 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
20 dandy-walker malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001305
21 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
22 supernumerary ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0005815
23 posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000358
24 poor suck 58 31 occasional (7.5%) Occasional (29-5%) HP:0002033
25 meckel diverticulum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002245
26 agenesis of cerebellar vermis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002335
27 undetectable visual evoked potentials 58 31 occasional (7.5%) Occasional (29-5%) HP:0007965
28 uncontrolled eye movements 58 31 occasional (7.5%) Occasional (29-5%) HP:0007738
29 macrocephaly 31 HP:0000256
30 seizures 58 Frequent (79-30%)
31 agenesis of corpus callosum 31 HP:0001274
32 abnormality of the ribs 31 HP:0000772
33 ventriculomegaly 58 Frequent (79-30%)
34 apnea 31 HP:0002104
35 feeding difficulties 58 Frequent (79-30%)
36 cerebellar vermis hypoplasia 58 Frequent (79-30%)
37 generalized hypotonia 31 HP:0001290
38 aplasia/hypoplasia of the cerebellar vermis 31 HP:0006817
39 dilation of lateral ventricles 31 HP:0006956
40 abnormal posterior cranial fossa morphology 31 HP:0000932

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
macrocephaly
hydrocephalus

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

Abdomen Gastrointestinal:
meckel diverticulum

Respiratory:
hyperpnea, periodic apnea, periodic

Neurologic Central Nervous System:
seizures
agenesis of corpus callosum
hydrocephalus
hypotonia
agenesis or severe hypoplasia of cerebellar vermis
more
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 (Updated 20-May-2021)

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

MalaCards organs/tissues related to Cerebral-Cerebellar-Coloboma Syndrome, X-Linked:

40
Eye, Cortex

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

Articles related to Cerebral-Cerebellar-Coloboma Syndrome, X-Linked:

# Title Authors PMID Year
1
Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome. 57 61
15887274 2005
2
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. 6
23176820 2012
3
Coexistence of Gaucher disease type 1 and Joubert syndrome. 57
9832051 1998

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDR45 NM_001029896.2(WDR45):c.131-11_145del Deletion Pathogenic 560932 rs1569523544 GRCh37: X:48935392-48935417
GRCh38: X:49077733-49077758
2 WDR45 NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) SNV Pathogenic 212592 rs797046101 GRCh37: X:48934128-48934128
GRCh38: X:49076469-49076469
3 WDR45 NM_001029896.2(WDR45):c.158_160TGG[1] (p.Val54del) Microsatellite Uncertain significance 218903 rs864309661 GRCh37: X:48935374-48935376
GRCh38: X:49077715-49077717

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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