MCID: PNT032
MIFTS: 29

Pontocerebellar Hypoplasia, Type 9

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

Aliases & Classifications for Pontocerebellar Hypoplasia, Type 9

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 9:

Name: Pontocerebellar Hypoplasia, Type 9 57 29 6 73
Pontocerebellar Hypoplasia Type 9 12 59 15
Pch9 57 59 75
Hypoplasia, Pontocerebellar, Type 9 40
Pontocerebellar Hypoplasia 9 75

Characteristics:

Orphanet epidemiological data:

59
pontocerebellar hypoplasia type 9
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or early infancy


HPO:

32
pontocerebellar hypoplasia, type 9:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pontocerebellar Hypoplasia, Type 9

OMIM : 57 Pontocerebellar hypoplasia type 9 is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum, and delayed myelination (summary by Akizu et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (607596). (615809)

MalaCards based summary : Pontocerebellar Hypoplasia, Type 9, also known as pontocerebellar hypoplasia type 9, is related to pontocerebellar hypoplasia, type 1a and pontocerebellar hypoplasia, and has symptoms including clonus, muscle spasticity and seizures. An important gene associated with Pontocerebellar Hypoplasia, Type 9 is AMPD2 (Adenosine Monophosphate Deaminase 2). Affiliated tissues include brain, cerebellum and pons, and related phenotypes are seizures and spasticity

UniProtKB/Swiss-Prot : 75 Pontocerebellar hypoplasia 9: A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH9 features include severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy, thin corpus callosum, and delayed myelination.

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 9

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
clonus
cerebral cortical atrophy
more
Head And Neck Head:
microcephaly, progressive (up to -9 sd)

Head And Neck Ears:
abnormally shaped ears (family a)

Neurologic Peripheral Nervous System:
axonal neuropathy (family a)

Head And Neck Eyes:
optic atrophy
cortical blindness
poor fixation
downslanting palpebral fissures (family a)

Head And Neck Face:
bitemporal narrowing (family a)
midface hypoplasia (family a)
hypotonic facies (family a)

Head And Neck Mouth:
short upper lip (family a)
macroglossia (family a)


Clinical features from OMIM:

615809

Human phenotypes related to Pontocerebellar Hypoplasia, Type 9:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 spasticity 32 HP:0001257
3 clonus 32 HP:0002169
4 macroglossia 32 HP:0000158
5 global developmental delay 32 HP:0001263
6 optic atrophy 32 HP:0000648
7 abnormality of the pinna 32 HP:0000377
8 ventriculomegaly 32 HP:0002119
9 cerebral cortical atrophy 32 HP:0002120
10 downslanted palpebral fissures 32 HP:0000494
11 midface retrusion 32 HP:0011800
12 hypoplasia of the corpus callosum 32 HP:0002079
13 cortical visual impairment 32 HP:0100704
14 peripheral axonal neuropathy 32 HP:0003477
15 narrow forehead 32 HP:0000341
16 facial hypotonia 32 HP:0000297
17 muscular hypotonia of the trunk 32 HP:0008936
18 progressive microcephaly 32 HP:0000253
19 short upper lip 32 HP:0000188

UMLS symptoms related to Pontocerebellar Hypoplasia, Type 9:


clonus, muscle spasticity, seizures

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 9

Search Clinical Trials , NIH Clinical Center for Pontocerebellar Hypoplasia, Type 9

Genetic Tests for Pontocerebellar Hypoplasia, Type 9

Genetic tests related to Pontocerebellar Hypoplasia, Type 9:

# Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia, Type 9 29 AMPD2

Anatomical Context for Pontocerebellar Hypoplasia, Type 9

MalaCards organs/tissues related to Pontocerebellar Hypoplasia, Type 9:

41
Brain, Cerebellum, Pons

Publications for Pontocerebellar Hypoplasia, Type 9

Articles related to Pontocerebellar Hypoplasia, Type 9:

# Title Authors Year
1
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. ( 29463858 )
2018
2
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9. ( 28168832 )
2017

Variations for Pontocerebellar Hypoplasia, Type 9

UniProtKB/Swiss-Prot genetic disease variations for Pontocerebellar Hypoplasia, Type 9:

75
# Symbol AA change Variation ID SNP ID
1 AMPD2 p.Arg674His VAR_071158 rs587777395
2 AMPD2 p.Asp793Tyr VAR_071159 rs587777394
3 AMPD2 p.Glu778Asp VAR_071193 rs587777392

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 9:

6
(show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 AMPD2 NM_001257360.1(AMPD2): c.1654delG (p.Asp552Thrfs) deletion Pathogenic rs587777391 GRCh37 Chromosome 1, 110171349: 110171349
2 AMPD2 NM_001257360.1(AMPD2): c.1654delG (p.Asp552Thrfs) deletion Pathogenic rs587777391 GRCh38 Chromosome 1, 109628727: 109628727
3 AMPD2 NM_001257360.1(AMPD2): c.2334G> C (p.Glu778Asp) single nucleotide variant Pathogenic rs587777392 GRCh37 Chromosome 1, 110173319: 110173319
4 AMPD2 NM_001257360.1(AMPD2): c.2334G> C (p.Glu778Asp) single nucleotide variant Pathogenic rs587777392 GRCh38 Chromosome 1, 109630697: 109630697
5 AMPD2 NM_001257360.1(AMPD2): c.1047C> A (p.Tyr349Ter) single nucleotide variant Pathogenic rs587777393 GRCh37 Chromosome 1, 110170075: 110170075
6 AMPD2 NM_001257360.1(AMPD2): c.1047C> A (p.Tyr349Ter) single nucleotide variant Pathogenic rs587777393 GRCh38 Chromosome 1, 109627453: 109627453
7 AMPD2 NM_001257360.1(AMPD2): c.2377G> T (p.Asp793Tyr) single nucleotide variant Pathogenic rs587777394 GRCh37 Chromosome 1, 110173362: 110173362
8 AMPD2 NM_001257360.1(AMPD2): c.2377G> T (p.Asp793Tyr) single nucleotide variant Pathogenic rs587777394 GRCh38 Chromosome 1, 109630740: 109630740
9 AMPD2 NM_001257360.1(AMPD2): c.2021G> A (p.Arg674His) single nucleotide variant Pathogenic rs587777395 GRCh37 Chromosome 1, 110172109: 110172109
10 AMPD2 NM_001257360.1(AMPD2): c.2021G> A (p.Arg674His) single nucleotide variant Pathogenic rs587777395 GRCh38 Chromosome 1, 109629487: 109629487
11 AMPD2 NM_004037.7(AMPD2): c.385-4C> T single nucleotide variant Benign/Likely benign rs116223306 GRCh37 Chromosome 1, 110168280: 110168280
12 AMPD2 NM_004037.7(AMPD2): c.385-4C> T single nucleotide variant Benign/Likely benign rs116223306 GRCh38 Chromosome 1, 109625658: 109625658
13 AMPD2 NM_004037.7(AMPD2): c.1404C> T (p.Tyr468=) single nucleotide variant Conflicting interpretations of pathogenicity rs114727970 GRCh37 Chromosome 1, 110170866: 110170866
14 AMPD2 NM_004037.7(AMPD2): c.1404C> T (p.Tyr468=) single nucleotide variant Conflicting interpretations of pathogenicity rs114727970 GRCh38 Chromosome 1, 109628244: 109628244
15 AMPD2 NM_001257360.1(AMPD2): c.2256C> G (p.Tyr752Ter) single nucleotide variant Pathogenic rs875989844 GRCh38 Chromosome 1, 109630343: 109630343
16 AMPD2 NM_001257360.1(AMPD2): c.2256C> G (p.Tyr752Ter) single nucleotide variant Pathogenic rs875989844 GRCh37 Chromosome 1, 110172965: 110172965
17 AMPD2 NM_004037.7(AMPD2): c.1569+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs41280332 GRCh37 Chromosome 1, 110171120: 110171120
18 AMPD2 NM_004037.7(AMPD2): c.1569+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs41280332 GRCh38 Chromosome 1, 109628498: 109628498
19 AMPD2 NM_001257360.1(AMPD2): c.185C> G (p.Ser62Cys) single nucleotide variant Uncertain significance rs147463318 GRCh38 Chromosome 1, 109621198: 109621198
20 AMPD2 NM_001257360.1(AMPD2): c.185C> G (p.Ser62Cys) single nucleotide variant Uncertain significance rs147463318 GRCh37 Chromosome 1, 110163820: 110163820
21 AMPD2 NM_001257360.1(AMPD2): c.795C> G (p.Thr265=) single nucleotide variant Likely benign rs141818976 GRCh37 Chromosome 1, 110169449: 110169449
22 AMPD2 NM_001257360.1(AMPD2): c.795C> G (p.Thr265=) single nucleotide variant Likely benign rs141818976 GRCh38 Chromosome 1, 109626827: 109626827
23 AMPD2 NM_001257360.1(AMPD2): c.234G> A (p.Gln78=) single nucleotide variant Likely benign rs143354905 GRCh38 Chromosome 1, 109621247: 109621247
24 AMPD2 NM_001257360.1(AMPD2): c.234G> A (p.Gln78=) single nucleotide variant Likely benign rs143354905 GRCh37 Chromosome 1, 110163869: 110163869
25 AMPD2 NM_001257360.1(AMPD2): c.268C> G (p.Leu90Val) single nucleotide variant Uncertain significance rs749918422 GRCh38 Chromosome 1, 109625317: 109625317
26 AMPD2 NM_001257360.1(AMPD2): c.268C> G (p.Leu90Val) single nucleotide variant Uncertain significance rs749918422 GRCh37 Chromosome 1, 110167939: 110167939
27 AMPD2 NM_001257360.1(AMPD2): c.1266G> A (p.Ser422=) single nucleotide variant Benign rs34030799 GRCh38 Chromosome 1, 109628106: 109628106
28 AMPD2 NM_001257360.1(AMPD2): c.1266G> A (p.Ser422=) single nucleotide variant Benign rs34030799 GRCh37 Chromosome 1, 110170728: 110170728
29 AMPD2 NM_001257360.1(AMPD2): c.2327T> G (p.Leu776Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 110173312: 110173312
30 AMPD2 NM_001257360.1(AMPD2): c.2327T> G (p.Leu776Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 109630690: 109630690
31 AMPD2 NM_001257360.1(AMPD2): c.515+10G> A single nucleotide variant Likely benign GRCh38 Chromosome 1, 109625802: 109625802
32 AMPD2 NM_001257360.1(AMPD2): c.515+10G> A single nucleotide variant Likely benign GRCh37 Chromosome 1, 110168424: 110168424
33 AMPD2 NM_001257360.1(AMPD2): c.699G> A (p.Pro233=) single nucleotide variant Likely benign rs776483432 GRCh37 Chromosome 1, 110169353: 110169353
34 AMPD2 NM_001257360.1(AMPD2): c.699G> A (p.Pro233=) single nucleotide variant Likely benign rs776483432 GRCh38 Chromosome 1, 109626731: 109626731

Expression for Pontocerebellar Hypoplasia, Type 9

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia, Type 9.

Pathways for Pontocerebellar Hypoplasia, Type 9

GO Terms for Pontocerebellar Hypoplasia, Type 9

Sources for Pontocerebellar Hypoplasia, Type 9

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10 dbSNP
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17 ExPASy
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69 SNOMED-CT via HPO
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71 TGDB
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73 UMLS
74 UMLS via Orphanet
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