MCID: CRB062
MIFTS: 19

Cerebellar Hypoplasia with Endosteal Sclerosis

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

Aliases & Classifications for Cerebellar Hypoplasia with Endosteal Sclerosis

MalaCards integrated aliases for Cerebellar Hypoplasia with Endosteal Sclerosis:

Name: Cerebellar Hypoplasia with Endosteal Sclerosis 57 53 6
Endosteal Sclerosis-Cerebellar Hypoplasia Syndrome 59 6

Characteristics:

Orphanet epidemiological data:

59
endosteal sclerosis-cerebellar hypoplasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cerebellar hypoplasia with endosteal sclerosis:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 213002
Orphanet 59 ORPHA85186
MESH via Orphanet 45 C535353
UMLS via Orphanet 74 C1859301
ICD10 via Orphanet 34 Q87.8
MedGen 42 C1859301

Summaries for Cerebellar Hypoplasia with Endosteal Sclerosis

NIH Rare Diseases : 53 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 10.1
2 hypomyelinating leukodystrophy 9.0 LOC100287944 POLR3B

Symptoms & Phenotypes for Cerebellar Hypoplasia with Endosteal Sclerosis

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Head And Neck Eyes:
strabismus
nystagmus

Skeletal:
endosteal sclerosis

Neurologic Central Nervous System:
congenital cerebellar hypoplasia
ataxia
developmental delay

Head And Neck Head:
microcephaly

Head And Neck Teeth:
oligodontia

Skeletal Pelvis:
congenital hip dislocation


Clinical features from OMIM:

213002

Human phenotypes related to Cerebellar Hypoplasia with Endosteal Sclerosis:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 ataxia 32 HP:0001251
3 global developmental delay 32 HP:0001263
4 microcephaly 32 HP:0000252
5 short stature 32 HP:0004322
6 strabismus 32 HP:0000486
7 cerebellar hypoplasia 32 HP:0001321
8 congenital hip dislocation 32 HP:0001374
9 oligodontia 32 HP:0000677

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:

41
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 GRCh37 Chromosome 12, 106826199: 106826199
2 POLR3B NM_018082.5(POLR3B): c.1568T> A (p.Val523Glu) single nucleotide variant Pathogenic rs138249161 GRCh38 Chromosome 12, 106432421: 106432421
3 POLR3B NM_018082.5(POLR3B): c.2774C> T (p.Pro925Leu) single nucleotide variant Pathogenic rs775141057 GRCh38 Chromosome 12, 106496115: 106496115
4 POLR3B NM_018082.5(POLR3B): c.2774C> T (p.Pro925Leu) single nucleotide variant Pathogenic rs775141057 GRCh37 Chromosome 12, 106889893: 106889893

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 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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