MCID: PNT039
MIFTS: 25

Pontocerebellar Hypoplasia, Type 7

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

Aliases & Classifications for Pontocerebellar Hypoplasia, Type 7

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 7:

Name: Pontocerebellar Hypoplasia, Type 7 57 6 73
Pontocerebellar Hypoplasia Type 7 12 59 15
Pch7 57 59 75
Pontocerebellar Hypoplasia-46,xy Disorder of Sex Development Syndrome 59
Pontocerebellar Hypoplasia 7 75

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:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance sporadic


Classifications:



Summaries for Pontocerebellar Hypoplasia, Type 7

UniProtKB/Swiss-Prot : 75 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, also known as pontocerebellar hypoplasia type 7, is related to pontocerebellar hypoplasia, type 1a, and has symptoms including apnea and myoclonus. 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

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)

Related Diseases for Pontocerebellar Hypoplasia, Type 7

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 7

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:
ambiguous genitalia
micropenis

Head And Neck Ears:
large ears

Head And Neck Mouth:
prominent upper lip

GenitourinaryInternal GenitaliaMale:
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

Human phenotypes related to Pontocerebellar Hypoplasia, Type 7:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 seizures 32 HP:0001250
3 hyperreflexia 32 HP:0001347
4 macrotia 32 HP:0000400
5 global developmental delay 32 HP:0001263
6 depressed nasal bridge 32 HP:0005280
7 wide nasal bridge 32 HP:0000431
8 optic atrophy 32 HP:0000648
9 micrognathia 32 HP:0000347
10 epicanthus 32 HP:0000286
11 myoclonus 32 HP:0001336
12 apnea 32 HP:0002104
13 cerebellar hypoplasia 32 HP:0001321
14 thick upper lip vermilion 32 HP:0000215
15 ambiguous genitalia 32 HP:0000062
16 spastic paraplegia 32 HP:0001258
17 oculomotor apraxia 32 HP:0000657
18 hypoplasia of the corpus callosum 32 HP:0002079
19 micropenis 32 HP:0000054
20 cerebral atrophy 32 HP:0002059
21 generalized hypotonia 32 HP:0001290
22 hypoplasia of the pons 32 HP:0012110
23 progressive microcephaly 32 HP:0000253

UMLS symptoms related to Pontocerebellar Hypoplasia, Type 7:


apnea, myoclonus

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

Anatomical Context for Pontocerebellar Hypoplasia, Type 7

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

41
Brain, Pons, Cerebellum

Publications for Pontocerebellar Hypoplasia, Type 7

Variations for Pontocerebellar Hypoplasia, Type 7

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

75
# 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

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 7:

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

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 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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