MCID: CRB062
MIFTS: 18

Cerebellar Hypoplasia with Endosteal Sclerosis

Categories: Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebellar Hypoplasia with Endosteal Sclerosis

MalaCards integrated aliases for Cerebellar Hypoplasia with Endosteal Sclerosis:

Name: Cerebellar Hypoplasia with Endosteal Sclerosis 58 54 6
Endosteal Sclerosis-Cerebellar Hypoplasia Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
endosteal sclerosis-cerebellar hypoplasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cerebellar hypoplasia with endosteal sclerosis:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 213002
MESH via Orphanet 46 C535353
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C1859301
Orphanet 60 ORPHA85186
MedGen 43 C1859301

Summaries for Cerebellar Hypoplasia with Endosteal Sclerosis

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85186Disease definitionEndosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessivetrait.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cerebellar Hypoplasia with Endosteal Sclerosis, also known as endosteal sclerosis-cerebellar hypoplasia syndrome, is related to cerebellar hypoplasia and hypomyelinating leukodystrophy. An important gene associated with Cerebellar Hypoplasia with Endosteal Sclerosis is POLR3B (RNA Polymerase III Subunit B). Affiliated tissues include bone, and related phenotypes are nystagmus and ataxia

Description from OMIM: 213002

Related Diseases for Cerebellar Hypoplasia with Endosteal Sclerosis

Diseases related to Cerebellar Hypoplasia with Endosteal Sclerosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cerebellar hypoplasia 10.2
2 hypomyelinating leukodystrophy 9.5 LOC100287944 POLR3B

Symptoms & Phenotypes for Cerebellar Hypoplasia with Endosteal Sclerosis

Human phenotypes related to Cerebellar Hypoplasia with Endosteal Sclerosis:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 ataxia 33 HP:0001251
3 global developmental delay 33 HP:0001263
4 microcephaly 33 HP:0000252
5 short stature 33 HP:0004322
6 strabismus 33 HP:0000486
7 congenital hip dislocation 33 HP:0001374
8 cerebellar hypoplasia 33 HP:0001321
9 oligodontia 33 HP:0000677

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
strabismus

Head And Neck Head:
microcephaly

Skeletal Pelvis:
congenital hip dislocation

Skeletal:
endosteal sclerosis

Neurologic Central Nervous System:
ataxia
developmental delay
congenital cerebellar hypoplasia

Growth Height:
short stature

Head And Neck Teeth:
oligodontia

Clinical features from OMIM:

213002

Drugs & Therapeutics for Cerebellar Hypoplasia with Endosteal Sclerosis

Search Clinical Trials , NIH Clinical Center for Cerebellar Hypoplasia with Endosteal Sclerosis

Genetic Tests for Cerebellar Hypoplasia with Endosteal Sclerosis

Anatomical Context for Cerebellar Hypoplasia with Endosteal Sclerosis

MalaCards organs/tissues related to Cerebellar Hypoplasia with Endosteal Sclerosis:

42
Bone

Publications for Cerebellar Hypoplasia with Endosteal Sclerosis

Articles related to Cerebellar Hypoplasia with Endosteal Sclerosis:

# Title Authors Year
1
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder. ( 28589944 )
2017

Variations for Cerebellar Hypoplasia with Endosteal Sclerosis

ClinVar genetic disease variations for Cerebellar Hypoplasia with Endosteal Sclerosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POLR3B NM_018082.5(POLR3B): c.1568T> A (p.Val523Glu) single nucleotide variant Pathogenic rs138249161 GRCh38 Chromosome 12, 106432421: 106432421
2 POLR3B NM_018082.5(POLR3B): c.1568T> A (p.Val523Glu) single nucleotide variant Pathogenic rs138249161 GRCh37 Chromosome 12, 106826199: 106826199
3 POLR3B NM_018082.5(POLR3B): c.2774C> T (p.Pro925Leu) single nucleotide variant Pathogenic rs775141057 GRCh37 Chromosome 12, 106889893: 106889893
4 POLR3B NM_018082.5(POLR3B): c.2774C> T (p.Pro925Leu) single nucleotide variant Pathogenic rs775141057 GRCh38 Chromosome 12, 106496115: 106496115

Expression for Cerebellar Hypoplasia with Endosteal Sclerosis

Search GEO for disease gene expression data for Cerebellar Hypoplasia with Endosteal Sclerosis.

Pathways for Cerebellar Hypoplasia with Endosteal Sclerosis

GO Terms for Cerebellar Hypoplasia with Endosteal Sclerosis

Sources for Cerebellar Hypoplasia with Endosteal Sclerosis

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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