MCID: CRB062
MIFTS: 21

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 56 52 6
Endosteal Sclerosis-Cerebellar Hypoplasia Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
endosteal sclerosis-cerebellar hypoplasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
cerebellar hypoplasia with endosteal sclerosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 213002
MESH via Orphanet 44 C535353
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1859301
Orphanet 58 ORPHA85186
MedGen 41 C1859301

Summaries for Cerebellar Hypoplasia with Endosteal Sclerosis

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85186 Definition Endosteal 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 recessive trait . 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 alacrima, achalasia, and mental retardation syndrome and 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

More information 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 alacrima, achalasia, and mental retardation syndrome 10.2
2 leukodystrophy 10.2
3 hypogonadism 10.2
4 hypogonadotropism 10.2
5 cerebellar hypoplasia 10.2

Graphical network of the top 20 diseases related to Cerebellar Hypoplasia with Endosteal Sclerosis:



Diseases related to Cerebellar Hypoplasia with Endosteal Sclerosis

Symptoms & Phenotypes for Cerebellar Hypoplasia with Endosteal Sclerosis

Human phenotypes related to Cerebellar Hypoplasia with Endosteal Sclerosis:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 ataxia 31 HP:0001251
3 global developmental delay 31 HP:0001263
4 short stature 31 HP:0004322
5 microcephaly 31 HP:0000252
6 strabismus 31 HP:0000486
7 congenital hip dislocation 31 HP:0001374
8 cerebellar hypoplasia 31 HP:0001321
9 oligodontia 31 HP:0000677

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
strabismus

Growth Height:
short stature

Skeletal Pelvis:
congenital hip dislocation

Skeletal:
endosteal sclerosis

Neurologic Central Nervous System:
ataxia
developmental delay
congenital cerebellar hypoplasia

Head And Neck Head:
microcephaly

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:

40
Bone

Publications for Cerebellar Hypoplasia with Endosteal Sclerosis

Articles related to Cerebellar Hypoplasia with Endosteal Sclerosis:

# Title Authors PMID Year
1
Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up. 61 56
15672385 2005
2
Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: a newly recognized syndrome. 56
1776639 1991
3
[Congenital cerebellar hypoplasia with bone lesions]. 56
3729252 1986
4
Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder. 61
28589944 2017

Variations for Cerebellar Hypoplasia with Endosteal Sclerosis

ClinVar genetic disease variations for Cerebellar Hypoplasia with Endosteal Sclerosis:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POLR3B NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)SNV Pathogenic 31166 rs138249161 12:106826199-106826199 12:106432421-106432421
2 POLR3B NM_018082.6(POLR3B):c.2774C>T (p.Pro925Leu)SNV Pathogenic 375248 rs775141057 12:106889893-106889893 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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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