MCID: PNT037
MIFTS: 32

Pontocerebellar Hypoplasia, Type 3

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Eye diseases, Muscle diseases, Metabolic diseases

Aliases & Classifications for Pontocerebellar Hypoplasia, Type 3

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 3:

Name: Pontocerebellar Hypoplasia, Type 3 57 13
Pontocerebellar Hypoplasia Type 3 12 53 59 29 6 44 73
Cerebellar Atrophy with Progressive Microcephaly 57 53 59 75
Pch with Optic Atrophy 57 53 59 75
Clam 57 53 59 75
Pch3 57 59 75
Cerebellar Atrophy with Progressive Microcephaly; Clam 57
Hypoplasia, Pontocerebellar, Type 3 40
Pontocerebellar Hypoplasia 3 75
Pch Without Dyskinesia 59

Characteristics:

Orphanet epidemiological data:

59
pontocerebellar hypoplasia type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset at birth
one consanguineous family has been found to carry a homozygous mutation in the pclo gene (last curated june 2015)


HPO:

32
pontocerebellar hypoplasia, type 3:
Onset and clinical course congenital onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pontocerebellar Hypoplasia, Type 3

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 97249Disease definitionPontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.EpidemiologyTo date, PCH3 is reported in only 3 families.Clinical descriptionNeonatally, PCH3 is characterized by hypotonia and impaired swallowing. From infancy onwards, the main features of PCH3 include progressive microcephaly with brachycephaly, optic atrophy, seizures during the first year of life, severe developmental delay, truncal hypotonia, with increased limb deep tendon reflexes and signs of spasticity of the limbs. Other characteristics such as facial dysmorphism (low set ears and prominent eyes), short stature and low weight are also reported. None of the clinical findings are specific.EtiologyThe etiology of PCH3 remains largely elusive. In 2 families, an implication of locus 7q11-21 has been demonstrated. PCH3 is inherited in an autosomal recessive manner.Diagnostic methodsMRI demonstrates neocortical and pontocerebellar hypoplasia with pons and cerebellum equally affected a small brainstem, prominent sulci and lateral ventricles and decreased cerebral white matter volume. It is recommended to limit the diagnosis of PCH3 to families with PCH and linkage to 7q11-21, until more precise identification of the associated gene becomes possible.PrognosisThere is no information on life expectancy, but reported PCH3 patients do not appear to regress.Visit the Orphanet disease page for more resources.

MalaCards based summary : Pontocerebellar Hypoplasia, Type 3, also known as pontocerebellar hypoplasia type 3, is related to pontocerebellar hypoplasia, type 1a and pontocerebellar hypoplasia, and has symptoms including muscle spasticity and seizures. An important gene associated with Pontocerebellar Hypoplasia, Type 3 is PCLO (Piccolo Presynaptic Cytomatrix Protein). Affiliated tissues include cerebellum, pons and brain, and related phenotypes are brachycephaly and progressive microcephaly

OMIM : 57 Pontocerebellar hypoplasia (PCH) refers to a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. Clinical features vary, but usually include severe developmental delay, dysmorphic features, seizures, and early death (summary by Durmaz et al., 2009). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596). (608027)

UniProtKB/Swiss-Prot : 75 Pontocerebellar hypoplasia 3: A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum. Brain MRI shows an abnormally small cerebellum and brainstem, decreased cerebral white matter, and a thin corpus callosum. PCH3 features include seizures, short stature, optic atrophy, progressive microcephaly, severe developmental delay.

Related Diseases for Pontocerebellar Hypoplasia, Type 3

Graphical network of the top 20 diseases related to Pontocerebellar Hypoplasia, Type 3:



Diseases related to Pontocerebellar Hypoplasia, Type 3

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
hearing impairment
large ears

Head And Neck Nose:
depressed nasal bridge

Head And Neck Eyes:
optic atrophy
prominent eyes
wide palpebral fissures

Head And Neck Face:
full cheeks
long philtrum

Head And Neck Mouth:
high arched palate
downturned corners of the mouth

Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
neonatal hypotonia
hypoplasia of the corpus callosum
more
Head And Neck Head:
microcephaly
brachycephaly

Growth Height:
short stature

Growth Weight:
low weight


Clinical features from OMIM:

608027

Human phenotypes related to Pontocerebellar Hypoplasia, Type 3:

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 brachycephaly 32 HP:0000248
2 progressive microcephaly 32 HP:0000253
3 full cheeks 32 HP:0000293
4 long philtrum 32 HP:0000343
5 hearing impairment 32 HP:0000365
6 low-set ears 32 HP:0000369
7 macrotia 32 HP:0000400
8 proptosis 32 HP:0000520
9 long palpebral fissure 32 HP:0000637
10 optic atrophy 32 HP:0000648
11 seizures 32 HP:0001250
12 spasticity 32 HP:0001257
13 global developmental delay 32 HP:0001263
14 cerebellar atrophy 32 HP:0001272
15 neonatal hypotonia 32 HP:0001319
16 cerebellar hypoplasia 32 HP:0001321
17 hyperreflexia 32 HP:0001347
18 cerebral atrophy 32 HP:0002059
19 hypoplasia of the corpus callosum 32 HP:0002079
20 hypoplasia of the brainstem 32 HP:0002365
21 poor head control 32 HP:0002421
22 high, narrow palate 32 HP:0002705
23 downturned corners of mouth 32 HP:0002714
24 short stature 32 HP:0004322
25 decreased body weight 32 HP:0004325
26 depressed nasal bridge 32 HP:0005280
27 muscular hypotonia of the trunk 32 HP:0008936
28 hypoplasia of the pons 32 HP:0012110

UMLS symptoms related to Pontocerebellar Hypoplasia, Type 3:


muscle spasticity, seizures

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 3

Search Clinical Trials , NIH Clinical Center for Pontocerebellar Hypoplasia, Type 3

Cochrane evidence based reviews: pontocerebellar hypoplasia type 3

Genetic Tests for Pontocerebellar Hypoplasia, Type 3

Genetic tests related to Pontocerebellar Hypoplasia, Type 3:

# Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia Type 3 29 PCLO

Anatomical Context for Pontocerebellar Hypoplasia, Type 3

MalaCards organs/tissues related to Pontocerebellar Hypoplasia, Type 3:

41
Cerebellum, Pons, Brain, Eye

Publications for Pontocerebellar Hypoplasia, Type 3

Articles related to Pontocerebellar Hypoplasia, Type 3:

# Title Authors Year
1
A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot. ( 23623288 )
2013
2
Pontocerebellar hypoplasia type 3 with tetralogy of Fallot. ( 21880448 )
2012
3
Pontocerebellar hypoplasia type 3 with severe vitamin A deficiency. ( 21215917 )
2011

Variations for Pontocerebellar Hypoplasia, Type 3

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PCLO NM_033026.5(PCLO): c.10624C> T (p.Arg3542Ter) single nucleotide variant Pathogenic rs746260871 GRCh37 Chromosome 7, 82579280: 82579280
2 PCLO NM_033026.5(PCLO): c.10624C> T (p.Arg3542Ter) single nucleotide variant Pathogenic rs746260871 GRCh38 Chromosome 7, 82949964: 82949964

Expression for Pontocerebellar Hypoplasia, Type 3

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia, Type 3.

Pathways for Pontocerebellar Hypoplasia, Type 3

GO Terms for Pontocerebellar Hypoplasia, Type 3

Sources for Pontocerebellar Hypoplasia, Type 3

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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