ORPHA:98523

Pontocerebellar hypoplasia

Synonyms: PCH · Pontoneocerebellar atrophy · Pontoneocerebellar hypoplasia

Type: Malformation syndrome
Group: Disorder
Inheritance: Autosomal recessive
Age of onset: Antenatal, Infancy, Neonatal
Status: active

A rare group of neurodegenerative disorders with a prenatal onset characterized by hypoplasia and/or atrophy of the cerebellum and pons. Involvement of supratentorial structures is variable. Multiple forms have been described based on severity, age of onset and clinical presentation.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Pontocerebellar hypoplasia	PCH · Pontoneocerebellar atrophy · Pontoneocerebellar hypoplasia
fr	Hypoplasie pontocérébelleuse	HPC · Hypoplasie pontonéocérébelleuse
de	Pontozerebelläre Hypoplasie	PCH · Pontozerebelläre Atrophie
es	Hipoplasia pontocerebelosa	PCH · Atrofia pontoneocerebelosa · HPC · Hipoplasia pontoneocerebelosa
it	Ipoplasia pontocerebellare	Atrofia pontoneocerebellare · Ipoplasia pontoneocerebellare · PCH
nl	Pontocerebellaire hypoplasie	Pontoneocerebellaire hypoplasie · PCH · Pontoneocerebellaire atrofie
pt	Hipoplasia pontocerebelosa não sindromática	Atrofia pontoneocerebelosa · Hipoplasia pontoneocerebelosa · PHC
pl	Niesyndromiczna hipoplazja mostowo-móżdżkowa	Atrofia mostowo-móżdżkowa · Hipoplazja mostowo-móżdżkowa · PCH
cs	Nesyndromická pontocerebelární hypoplázie	PCH · Pontoneocerebelární atrofie · Pontoneocerebelární hypoplázie
uk	Несиндромна гіпоплазія мозочка	PCH · Понтонеоцеребеллярна атрофія · Понтонеоцеребеллярна гіпоплазія
zh	非综合征型脑桥小脑发育不全	脑桥小脑发育不全
tr	Sendromik olmayan pontocerebellar hipoplazi	PCH · Pontoneoserebellar atrofi · Pontoneocerebllar hipoplazi

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-11	LD20.01	E	specific	validated
MONDO	0020135	E		validated
UMLS	C1261175	E		validated
GARD	10977	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (2):

ORPHA:166478Cerebral malformation with epilepsy
rare genetic diseases; rare neurological diseases
ORPHA:728528Pontocerebellar hypoplasia and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases

Children (15):

Genes

0 direct · 21 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
AMPD2	ORPHA:369920Pontocerebellar hypoplasia type 9	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:469	ENSG00000116337	102771	1p13.3	adenosine monophosphate deaminase 2	23911318[PMID]
CHMP1A	ORPHA:324569Pontocerebellar hypoplasia type 8	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:8740	ENSG00000131165	164010	16q24.3	charged multivesicular body protein 1A	23023333[PMID]
CLP1	ORPHA:411493Pontocerebellar hypoplasia type 10	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:16999	ENSG00000172409	608757	11q12.1	cleavage factor polyribonucleotide kinase subunit 1	24766809[PMID]_24766810[PMID]
PRDM13	ORPHA:728521Pontocerebellar hypoplasia type 17	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:13998	ENSG00000112238	616741	6q16.2	PR/SET domain 13	35390279[PMID]
SLC25A46	ORPHA:2254Pontocerebellar hypoplasia type 1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:25198	ENSG00000164209	610826	5q22.1	solute carrier family 25 member 46	28637197[PMID]
TOE1	ORPHA:284339Pontocerebellar hypoplasia type 7	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:15954	ENSG00000132773	613931	1p34.1	target of EGR1, exonuclease	28092684[PMID]
TSEN15	ORPHA:2524Pontocerebellar hypoplasia type 2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:16791	ENSG00000198860	608756	1q25.3	tRNA splicing endonuclease subunit 15	27392077[PMID]
AGTPBP1	ORPHA:2254Pontocerebellar hypoplasia type 1	Disease-causing germline mutation(s) in	Assessed	HGNC:17258	ENSG00000135049	606830	9q21.33	ATP/GTP binding carboxypeptidase 1	30976113[PMID]
COASY	ORPHA:611256Pontocerebellar hypoplasia type 12	Disease-causing germline mutation(s) in	Assessed	HGNC:29932	ENSG00000068120	609855	17q21.2	Coenzyme A synthase	30089828[PMID]_36495139[PMID]
EXOSC3	ORPHA:2254Pontocerebellar hypoplasia type 1	Disease-causing germline mutation(s) in	Assessed	HGNC:17944	ENSG00000107371	606489	9p13.2	exosome component 3	22544365[PMID]_25144110[PMID]
EXOSC8	ORPHA:2254Pontocerebellar hypoplasia type 1	Disease-causing germline mutation(s) in	Assessed	HGNC:17035	ENSG00000120699	606019	13q13.3	exosome component 8	24989451[PMID]
EXOSC9	ORPHA:2254Pontocerebellar hypoplasia type 1	Disease-causing germline mutation(s) in	Assessed	HGNC:9137	ENSG00000123737	606180	4q27	exosome component 9	29727687[PMID]
MINPP1	ORPHA:728514Pontocerebellar hypoplasia type 16	Disease-causing germline mutation(s) in	Assessed	HGNC:7102	ENSG00000107789	605391	10q23.2	multiple inositol-polyphosphate phosphatase 1	33168985[PMID]
PCLO	ORPHA:97249Pontocerebellar hypoplasia type 3	Disease-causing germline mutation(s) in	Assessed	HGNC:13406	ENSG00000186472	604918	7q21.11	piccolo presynaptic cytomatrix protein	25832664[PMID]
RARS2	ORPHA:166073Pontocerebellar hypoplasia type 6	Disease-causing germline mutation(s) in	Assessed	HGNC:21406	ENSG00000146282	611524	6q15	arginyl-tRNA synthetase 2, mitochondrial
SEPSECS	ORPHA:2524Pontocerebellar hypoplasia type 2	Disease-causing germline mutation(s) in	Assessed	HGNC:30605	ENSG00000109618	613009	4p15.2	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	20920667[PMID]
TSEN2	ORPHA:2524Pontocerebellar hypoplasia type 2	Disease-causing germline mutation(s) in	Assessed	HGNC:28422	ENSG00000154743	608753	3p25.2	tRNA splicing endonuclease subunit 2	23562994[PMID]
TSEN34	ORPHA:2524Pontocerebellar hypoplasia type 2	Disease-causing germline mutation(s) in	Assessed	HGNC:15506	ENSG00000170892	608754	19q13.42	tRNA splicing endonuclease subunit 34	18711368[PMID]
TSEN54	ORPHA:2524Pontocerebellar hypoplasia type 2	Disease-causing germline mutation(s) in	Assessed	HGNC:27561	ENSG00000182173	608755	17q25.1	tRNA splicing endonuclease subunit 54	20301773[PMID]
TSEN54	ORPHA:166063Pontocerebellar hypoplasia type 4	Disease-causing germline mutation(s) in	Assessed	HGNC:27561	ENSG00000182173	608755	17q25.1	tRNA splicing endonuclease subunit 54
VRK1	ORPHA:2254Pontocerebellar hypoplasia type 1	Disease-causing germline mutation(s) in	Assessed	HGNC:12718	ENSG00000100749	602168	14q32.2	VRK serine/threonine kinase 1	19646678[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/98523
This record as JSON: /data/d/98523.json