PCH7
MCID: PNT039
MIFTS: 30

Pontocerebellar Hypoplasia, Type 7 (PCH7)

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

Aliases & Classifications for Pontocerebellar Hypoplasia, Type 7

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 7:

Name: Pontocerebellar Hypoplasia, Type 7 57 29 6 72
Pontocerebellar Hypoplasia Type 7 12 59 15
Pch7 57 59 74
Pontocerebellar Hypoplasia-46,xy Disorder of Sex Development Syndrome 59
Pontocerebellar Hypoplasia 7 74

Characteristics:

Orphanet epidemiological data:

59
pontocerebellar hypoplasia type 7
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death in childhood may occur


HPO:

32
pontocerebellar hypoplasia, type 7:
Inheritance autosomal recessive inheritance sporadic
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0060276
MeSH 44 D002526
ICD10 33 Q04.3
ICD10 via Orphanet 34 Q04.3
Orphanet 59 ORPHA284339
MedGen 42 C3554226
UMLS 72 C3554226

Summaries for Pontocerebellar Hypoplasia, Type 7

UniProtKB/Swiss-Prot : 74 Pontocerebellar hypoplasia 7: A form of pontocerebellar hypoplasia, a group of related disorders characterized by underdevelopment of the pons and the cerebellum. Pontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size. PCH7 patients manifest delayed psychomotor development, hypotonia, breathing abnormalities, and gonadal abnormalities.

MalaCards based summary : Pontocerebellar Hypoplasia, Type 7, is also known as pontocerebellar hypoplasia type 7, and has symptoms including myoclonus and apnea. An important gene associated with Pontocerebellar Hypoplasia, Type 7 is TOE1 (Target Of EGR1, Exonuclease). Affiliated tissues include brain, pons and cerebellum, and related phenotypes are nystagmus and seizures

Disease Ontology : 12 A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has material basis in autosomal recessive mutation in the TOE1 gene.

OMIM : 57 Pontocerebellar hypoplasia type 7 is a severe neurologic condition characterized by delayed psychomotor development, hypotonia, breathing abnormalities, and gonadal abnormalities (summary by Anderson et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596). (614969)

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 7

Human phenotypes related to Pontocerebellar Hypoplasia, Type 7:

59 32 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 Occasional (29-5%) HP:0000639
2 seizures 59 32 Occasional (29-5%) HP:0001250
3 hyperreflexia 59 32 Occasional (29-5%) HP:0001347
4 macrotia 59 32 Frequent (79-30%) HP:0000400
5 global developmental delay 59 32 Frequent (79-30%) HP:0001263
6 depressed nasal bridge 59 32 Occasional (29-5%) HP:0005280
7 wide nasal bridge 59 32 Frequent (79-30%) HP:0000431
8 optic atrophy 59 32 Occasional (29-5%) HP:0000648
9 micrognathia 59 32 Frequent (79-30%) HP:0000347
10 epicanthus 59 32 Frequent (79-30%) HP:0000286
11 myoclonus 59 32 Occasional (29-5%) HP:0001336
12 micropenis 59 32 Occasional (29-5%) HP:0000054
13 thick upper lip vermilion 59 32 Frequent (79-30%) HP:0000215
14 ambiguous genitalia 59 32 Frequent (79-30%) HP:0000062
15 hypoplasia of the corpus callosum 59 32 Frequent (79-30%) HP:0002079
16 high palate 59 Frequent (79-30%)
17 intellectual disability 59 Frequent (79-30%)
18 muscular hypotonia 59 Frequent (79-30%)
19 spasticity 59 Occasional (29-5%)
20 microcephaly 59 Frequent (79-30%)
21 hypertonia 59 Frequent (79-30%)
22 skeletal muscle atrophy 59 Frequent (79-30%)
23 generalized hypotonia 32 HP:0001290
24 fatigable weakness of skeletal muscles 59 Frequent (79-30%)
25 absent speech 32 HP:0001344
26 cryptorchidism 59 Frequent (79-30%)
27 apnea 32 HP:0002104
28 cerebellar hypoplasia 32 HP:0001321
29 upslanted palpebral fissure 59 Occasional (29-5%)
30 fasciculations 59 Frequent (79-30%)
31 involuntary movements 59 Occasional (29-5%)
32 spastic paraplegia 32 HP:0001258
33 oculomotor apraxia 32 HP:0000657
34 aplasia of the uterus 59 Occasional (29-5%)
35 gonadal dysgenesis 59 Occasional (29-5%)
36 cerebral atrophy 32 HP:0002059
37 hypoplasia of the pons 32 HP:0012110
38 abnormal scrotal rugation 59 Occasional (29-5%)
39 abnormality of the cerebral white matter 59 Frequent (79-30%)
40 clitoral hypertrophy 59 Occasional (29-5%)
41 progressive microcephaly 32 HP:0000253
42 abnormality of the cerebrum 59 Frequent (79-30%)
43 olivopontocerebellar hypoplasia 59 Frequent (79-30%)
44 hypoplasia of the brainstem 59 Frequent (79-30%)
45 microphallus 59 Occasional (29-5%)
46 absent penis 59 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
optic atrophy
oculomotor apraxia
epicanthal folds
poor fixation and following

Head And Neck Nose:
depressed nasal bridge
broad nasal root

Genitourinary External Genitalia Male:
micropenis
ambiguous genitalia

Head And Neck Ears:
large ears

Head And Neck Mouth:
prominent upper lip

Genitourinary Internal Genitalia Male:
lack of gonadal tissue
testicular regression

Neurologic Central Nervous System:
hyperreflexia
myoclonus
spastic paraplegia
cerebral atrophy
developmental delay
more
Head And Neck Face:
micrognathia

Muscle Soft Tissue:
hypotonia

Respiratory:
abnormal breathing pattern
apneic episodes

Head And Neck Head:
microcephaly, progressive (in some patients)

Endocrine Features:
increased baseline gonadotropins
functional anorchia

Clinical features from OMIM:

614969

UMLS symptoms related to Pontocerebellar Hypoplasia, Type 7:


myoclonus, apnea

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 7

Search Clinical Trials , NIH Clinical Center for Pontocerebellar Hypoplasia, Type 7

Genetic Tests for Pontocerebellar Hypoplasia, Type 7

Genetic tests related to Pontocerebellar Hypoplasia, Type 7:

# Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia, Type 7 29 TOE1

Anatomical Context for Pontocerebellar Hypoplasia, Type 7

MalaCards organs/tissues related to Pontocerebellar Hypoplasia, Type 7:

41
Brain, Pons, Cerebellum, Skeletal Muscle, Uterus, Testes

Publications for Pontocerebellar Hypoplasia, Type 7

Articles related to Pontocerebellar Hypoplasia, Type 7:

# Title Authors PMID Year
1
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. 38 8 71
28092684 2017
2
Early pontocerebellar hypoplasia with vanishing testes: A new syndrome? 8 71
21594990 2011
3
XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome. 8
23686794 2013
4
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 8
18711368 2008
5
XY sex reversal and a nonprogressive neurologic disorder: a new syndrome? 8
11068172 2000
6
TOE1 acts as a 3' exonuclease for telomerase RNA and regulates telomere maintenance. 38
30371886 2019
7
Effect of the growth conditions on the synthesis of a recombinant beta-1,4-endoglucanase in continuous and fed-batch culture. 38
10899550 2000
8
Yeast H3 and H4 histone messenger RNAs are transcribed from two non-allelic gene sets. 38
6313932 1983

Variations for Pontocerebellar Hypoplasia, Type 7

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 7:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TOE1 TOE1, GLU220LYS single nucleotide variant Pathogenic
2 TOE1 TOE1, PHE148TYR (rs148067486) single nucleotide variant Pathogenic
3 TOE1 NM_025077.4(TOE1): c.307G> A (p.Ala103Thr) single nucleotide variant Pathogenic rs371848318 1:45807215-45807215 1:45341543-45341543
4 TOE1 TOE1, VAL173GLY (rs777030573) undetermined variant Pathogenic
5 TOE1 TOE1, 2-BP DEL deletion Pathogenic
6 TOE1 TOE1, HIS319GLN (rs758153898) undetermined variant Pathogenic

UniProtKB/Swiss-Prot genetic disease variations for Pontocerebellar Hypoplasia, Type 7:

74
# Symbol AA change Variation ID SNP ID
1 TOE1 p.Glu220Lys VAR_078809
2 TOE1 p.Arg73Ser VAR_078850 rs774056037
3 TOE1 p.Ala103Thr VAR_078851 rs371848318
4 TOE1 p.Phe148Tyr VAR_078852 rs148067486
5 TOE1 p.Val173Gly VAR_078853 rs777030573
6 TOE1 p.Phe239Ser VAR_078855 rs778263701
7 TOE1 p.Arg253Trp VAR_078856 rs368182654
8 TOE1 p.His319Gln VAR_078857 rs758153898
9 TOE1 p.His319Tyr VAR_078858 rs750266350
10 TOE1 p.Ser496Phe VAR_078859

Expression for Pontocerebellar Hypoplasia, Type 7

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia, Type 7.

Pathways for Pontocerebellar Hypoplasia, Type 7

GO Terms for Pontocerebellar Hypoplasia, Type 7

Sources for Pontocerebellar Hypoplasia, Type 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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