Pontocerebellar Hypoplasia, Type 9 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Pontocerebellar Hypoplasia, Type 9

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 9:

Name: Pontocerebellar Hypoplasia, Type 9 ⁵⁶ ²⁹ ⁶ ⁷¹

Pontocerebellar Hypoplasia Type 9 ¹² ⁵⁸ ¹⁵

Pch9 ⁵⁶ ⁵⁸ ⁷³

Hypoplasia, Pontocerebellar, Type 9 ³⁹

Pontocerebellar Hypoplasia 9 ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or early infancy

HPO:

³¹

pontocerebellar hypoplasia, type 9:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Respiratory diseases Muscle diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

Other congenital malformations of brain

Other reduction deformities of brain

Orphanet: ⁵⁸

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0060278

OMIM ⁵⁶ 615809

OMIM Phenotypic Series ⁵⁶ PS607596

MeSH ⁴³ D002526

ICD10 ³² Q04.3

ICD10 via Orphanet ³³ Q04.3

Orphanet ⁵⁸ ORPHA369920

MedGen ⁴¹ C4014354 CN188188

UMLS ⁷¹ C4014354

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Summaries for Pontocerebellar Hypoplasia, Type 9

OMIM : ⁵⁶ 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 and spastic paraplegia 63, autosomal recessive, and has symptoms including seizures, clonus and muscle spasticity. An important gene associated with Pontocerebellar Hypoplasia, Type 9 is AMPD2 (Adenosine Monophosphate Deaminase 2), and among its related pathways/superpathways is ATP/ITP metabolism. Affiliated tissues include brain, cerebellum and pons, and related phenotypes are macroglossia and global developmental delay

Disease Ontology : ¹² A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has material basis in autosomal recessive inheritance of mutation in the AMPD2 gene.

UniProtKB/Swiss-Prot : ⁷³ 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.

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Related Diseases for Pontocerebellar Hypoplasia, Type 9

Diseases in the Pontocerebellar Hypoplasia family:

Pontocerebellar Hypoplasia, Type 4	Pontocerebellar Hypoplasia, Type 2a
Pontocerebellar Hypoplasia, Type 1a	Pontocerebellar Hypoplasia, Type 3
Pontocerebellar Hypoplasia, Type 5	Pontocerebellar Hypoplasia, Type 6
Pontocerebellar Hypoplasia, Type 2b	Pontocerebellar Hypoplasia, Type 2c
Pontocerebellar Hypoplasia, Type 2d	Pontocerebellar Hypoplasia, Type 1b
Pontocerebellar Hypoplasia, Type 8	Pontocerebellar Hypoplasia, Type 7
Pontocerebellar Hypoplasia, Type 10	Pontocerebellar Hypoplasia, Type 9
Pontocerebellar Hypoplasia, Type 2e	Pontocerebellar Hypoplasia, Type 1c
Pontocerebellar Hypoplasia, Type 2f	Pontocerebellar Hypoplasia, Type 11
Pontocerebellar Hypoplasia, Type 1d	Pontocerebellar Hypoplasia, Type 12
Pontocerebellar Hypoplasia, Type 13	Exosc3-Related Pontocerebellar Hypoplasia
Pontocerebellar Hypoplasia Type 1

Diseases related to Pontocerebellar Hypoplasia, Type 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)

#	Related Disease	Score	Top Affiliating Genes
1	pontocerebellar hypoplasia	30.1	VRK1 AMPD2
2	spastic paraplegia 63, autosomal recessive	10.3
3	paraplegia	10.3
4	corpus callosum, partial agenesis of, x-linked	10.1
5	astigmatism	10.1
6	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.1
7	joint laxity, short stature, and myopia	10.1
8	stickler syndrome	10.1
9	sensorineural hearing loss	10.1
10	microcephaly	10.1
11	myopia	10.1
12	periventricular leukomalacia	10.1
13	hereditary spastic paraplegia	10.1
14	hypotonia	10.1
15	spasticity	10.1
16	anterior horn cell disease	9.5	VRK1 AMPD2
17	megalocornea	9.4	SH3PXD2B COL11A1

Graphical network of the top 20 diseases related to Pontocerebellar Hypoplasia, Type 9:

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Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 9

Human phenotypes related to Pontocerebellar Hypoplasia, Type 9:

³¹ (show all 19)

#	Description	HPO Source Accession
1	macroglossia ³¹	HP:0000158
2	global developmental delay ³¹	HP:0001263
3	optic atrophy ³¹	HP:0000648
4	spasticity ³¹	HP:0001257
5	cerebral cortical atrophy ³¹	HP:0002120
6	downslanted palpebral fissures ³¹	HP:0000494
7	ventriculomegaly ³¹	HP:0002119
8	clonus ³¹	HP:0002169
9	midface retrusion ³¹	HP:0011800
10	hypoplasia of the corpus callosum ³¹	HP:0002079
11	abnormality of the pinna ³¹	HP:0000377
12	muscular hypotonia of the trunk ³¹	HP:0008936
13	cerebral visual impairment ³¹	HP:0100704
14	narrow forehead ³¹	HP:0000341
15	facial hypotonia ³¹	HP:0000297
16	peripheral axonal neuropathy ³¹	HP:0003477
17	progressive microcephaly ³¹	HP:0000253
18	short upper lip ³¹	HP:0000188
19	seizure ³¹	HP:0001250

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
cerebral cortical atrophy
clonus
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

UMLS symptoms related to Pontocerebellar Hypoplasia, Type 9:

seizures, clonus, muscle spasticity

MGI Mouse Phenotypes related to Pontocerebellar Hypoplasia, Type 9:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	immune system	MP:0005387	9.8	AMPD2 AMPD3 CLCA1 COL11A1 NF2 SH3PXD2B
2	mortality/aging	MP:0010768	9.63	AMPD2 AMPD3 COL11A1 NF2 SH3PXD2B VRK1
3	nervous system	MP:0003631	9.43	AMPD2 AMPD3 CLCA1 COL11A1 NF2 SH3PXD2B
4	respiratory system	MP:0005388	8.92	AMPD3 CLCA1 COL11A1 NF2

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Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 9

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

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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

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Anatomical Context for Pontocerebellar Hypoplasia, Type 9

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

⁴⁰

Brain, Cerebellum, Pons

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Publications for Pontocerebellar Hypoplasia, Type 9

Articles related to Pontocerebellar Hypoplasia, Type 9:

(show all 12)

#	Title	Authors	PMID	Year
1	Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss. ⁶ ⁵⁶	Marsh AP...Lockhart PJ	27066553	2015
2	AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. ⁵⁶ ⁶	Akizu N...Gleeson JG	23911318	2013
3	Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2. ⁶¹	Abreu NJ...Waldrop MA	31833174	2020
4	Neuroradiological findings in three cases of pontocerebellar hypoplasia type 9 due to AMPD2 mutation: typical MRI appearances and pearls for differential diagnosis. ⁶¹	Scola E...D'Arco F	31929969	2019
5	CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63. ⁶¹	Marsh APL...Leventer RJ	30089829	2019
6	Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. ⁶¹	Kortum F...Kutsche K	29463858	2018
7	Teaching NeuroImages: Figure of 8: The clue to the diagnosis of AMPD2 pontocerebellar hypoplasia (PCH9). ⁶¹	Severino M...Striano P	28972112	2017
8	A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9. ⁶¹	Marsh AP...Lockhart PJ	28168832	2017
9	KNK437 Inhibits Replication and Transcription of the Hepatitis B Virus. ⁶¹	Hu K...Zhu X	30702818	2017
10	Hsa-miR-331-3p inhibits VHL expression by directly targeting its mRNA 3'-UTR in HCC cell lines. ⁶¹	Cao Y...Tang H	25750939	2015
11	[Regulation of microRNA-122 on HBV replication by targeting HBx sequence]. ⁶¹	Hao M...Huang A	21936381	2011
12	[Down-regulation of hepatitis B virus replication by heparin sulfate-D-glucosaminyl-3-O-sulfotransferase 3B1]. ⁶¹	Su HB...Huang AL	22053370	2011

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Genes for Pontocerebellar Hypoplasia, Type 9

Genes related to Pontocerebellar Hypoplasia, Type 9 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	AMPD2	Adenosine Monophosphate Deaminase 2	Protein Coding	1677.93	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)	27066553 23911318
2	CLCA1	Chloride Channel Accessory 1	Protein Coding	6.57	DISEASES inferred ¹⁵
3	COL11A1	Collagen Type XI Alpha 1 Chain	Protein Coding	6.13	DISEASES inferred ¹⁵
4	AMPD3	Adenosine Monophosphate Deaminase 3	Protein Coding	5.6	DISEASES inferred ¹⁵
5	SH3PXD2B	SH3 And PX Domains 2B	Protein Coding	5.42	DISEASES inferred ¹⁵
6	VRK1	VRK Serine/Threonine Kinase 1	Protein Coding	5.11	DISEASES inferred ¹⁵
7	NF2	Neurofibromin 2	Protein Coding	3.81	DISEASES inferred ¹⁵

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Variations for Pontocerebellar Hypoplasia, Type 9

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 9:

⁶ (show all 37) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	AMPD2	NM_001368809.2(AMPD2):c.2165T>G (p.Leu722Arg)	SNV	Pathogenic	488467	rs1553230375	1:110173312-110173312	1:109630690-109630690
2	AMPD2	NM_001257360.2:c.495delG	deletion	Pathogenic	810627
3	AMPD2	NM_001368809.2(AMPD2):c.1492del (p.Asp498fs)	deletion	Pathogenic	132809	rs587777391	1:110171347-110171347	1:109628725-109628725
4	AMPD2	NM_001368809.2(AMPD2):c.2172G>C (p.Glu724Asp)	SNV	Pathogenic	132810	rs587777392	1:110173319-110173319	1:109630697-109630697
5	AMPD2	NM_001368809.2(AMPD2):c.885C>A (p.Tyr295Ter)	SNV	Pathogenic	132811	rs587777393	1:110170075-110170075	1:109627453-109627453
6	AMPD2	NM_001368809.2(AMPD2):c.2215G>T (p.Asp739Tyr)	SNV	Pathogenic	132812	rs587777394	1:110173362-110173362	1:109630740-109630740
7	AMPD2	NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His)	SNV	Pathogenic	132813	rs587777395	1:110172109-110172109	1:109629487-109629487
8	AMPD2	NM_001368809.2(AMPD2):c.2094C>G (p.Tyr698Ter)	SNV	Pathogenic	225763	rs875989844	1:110172965-110172965	1:109630343-109630343
9	AMPD2	NM_001368809.2(AMPD2):c.1345C>T (p.Arg449Ter)	SNV	Likely pathogenic	813899		1:110171055-110171055	1:109628433-109628433
10	AMPD2	NM_001368809.2(AMPD2):c.1242C>T (p.Tyr414=)	SNV	Conflicting interpretations of pathogenicity	210136	rs114727970	1:110170866-110170866	1:109628244-109628244
11	AMPD2	NM_001368809.2(AMPD2):c.1407+3A>G	SNV	Conflicting interpretations of pathogenicity	434144	rs41280332	1:110171120-110171120	1:109628498-109628498
12	AMPD2	NM_001368809.2(AMPD2):c.23C>G (p.Ser8Cys)	SNV	Uncertain significance	474995	rs147463318	1:110163820-110163820	1:109621198-109621198
13	AMPD2	NM_001368809.2(AMPD2):c.106C>G (p.Leu36Val)	SNV	Uncertain significance	474997	rs749918422	1:110167939-110167939	1:109625317-109625317
14	AMPD2	NM_001368809.2(AMPD2):c.971G>T (p.Arg324Leu)	SNV	Uncertain significance	571097	rs746332433	1:110170416-110170416	1:109627794-109627794
15	AMPD2	NM_001368809.2(AMPD2):c.1207C>T (p.Arg403Trp)	SNV	Uncertain significance	574248	rs373128067	1:110170831-110170831	1:109628209-109628209
16	AMPD2	NM_001368809.2(AMPD2):c.1192C>T (p.Arg398Cys)	SNV	Uncertain significance	578069	rs570605098	1:110170816-110170816	1:109628194-109628194
17	AMPD2	NM_001368809.2(AMPD2):c.806T>C (p.Leu269Pro)	SNV	Uncertain significance	638368		1:110169884-110169884	1:109627262-109627262
18	AMPD2	NM_001368809.2(AMPD2):c.-75G>T	SNV	Uncertain significance	649488		1:110163723-110163723	1:109621101-109621101
19	AMPD2	NM_001368809.2(AMPD2):c.178G>A (p.Asp60Asn)	SNV	Uncertain significance	655115		1:110168011-110168011	1:109625389-109625389
20	AMPD2	NM_001368809.2(AMPD2):c.1328T>C (p.Ile443Thr)	SNV	Uncertain significance	665782		1:110171038-110171038	1:109628416-109628416
21	AMPD2	NM_001368809.2(AMPD2):c.428A>G (p.Tyr143Cys)	SNV	Uncertain significance	863422		1:110168946-110168946	1:109626324-109626324
22	AMPD2	NM_001368809.2(AMPD2):c.1072A>G (p.Ile358Val)	SNV	Uncertain significance	864592		1:110170517-110170517	1:109627895-109627895
23	AMPD2	NM_001368809.2(AMPD2):c.582C>T (p.Leu194=)	SNV	Likely benign	706575		1:110169398-110169398	1:109626776-109626776
24	AMPD2	NM_001368809.2(AMPD2):c.27C>A (p.Gly9=)	SNV	Likely benign	731965		1:110163824-110163824	1:109621202-109621202
25	AMPD2	NM_001368809.2(AMPD2):c.1992C>T (p.Val664=)	SNV	Likely benign	704805		1:110172863-110172863	1:109630241-109630241
26	AMPD2	NM_001368809.2(AMPD2):c.-112G>A	SNV	Likely benign	706538		1:110163686-110163686	1:109621064-109621064
27	AMPD2	NM_001368809.2(AMPD2):c.353+10G>A	SNV	Likely benign	541841	rs1269768577	1:110168424-110168424	1:109625802-109625802
28	AMPD2	NM_001368809.2(AMPD2):c.537G>A (p.Pro179=)	SNV	Likely benign	541842	rs776483432	1:110169353-110169353	1:109626731-109626731
29	AMPD2	NM_001368809.2(AMPD2):c.633C>G (p.Thr211=)	SNV	Likely benign	474998	rs141818976	1:110169449-110169449	1:109626827-109626827
30	AMPD2	NM_001368809.2(AMPD2):c.72G>A (p.Gln24=)	SNV	Likely benign	474996	rs143354905	1:110163869-110163869	1:109621247-109621247
31	AMPD2	NM_001368809.2(AMPD2):c.223-4C>T	SNV	Benign/Likely benign	210137	rs116223306	1:110168280-110168280	1:109625658-109625658
32	AMPD2	NM_001368809.2(AMPD2):c.1080+9T>C	SNV	Benign	703857		1:110170534-110170534	1:109627912-109627912
33	AMPD2	NM_001368809.2(AMPD2):c.708T>G (p.Pro236=)	SNV	Benign	703840		1:110169524-110169524	1:109626902-109626902
34	AMPD2	NM_001368809.2(AMPD2):c.1587C>A (p.Thr529=)	SNV	Benign	703122		1:110171746-110171746	1:109629124-109629124
35	AMPD2	NM_001368809.2(AMPD2):c.1716C>T (p.Ser572=)	SNV	Benign	704004		1:110171966-110171966	1:109629344-109629344
36	AMPD2	NM_001368809.2(AMPD2):c.1104G>A (p.Ser368=)	SNV	Benign	474994	rs34030799	1:110170728-110170728	1:109628106-109628106
37	AMPD2	NM_001368809.2(AMPD2):c.-52C>G	SNV	Benign	706956		1:110163746-110163746	1:109621124-109621124

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

⁷³

#	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

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Expression for Pontocerebellar Hypoplasia, Type 9

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

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Pathways for Pontocerebellar Hypoplasia, Type 9

Pathways related to Pontocerebellar Hypoplasia, Type 9 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	ATP/ITP metabolism ²²	10.55	AMPD3 AMPD2

Sources

GO Terms for Pontocerebellar Hypoplasia, Type 9

Biological processes related to Pontocerebellar Hypoplasia, Type 9 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of stress fiber assembly	GO:0051496	9.46	SH3PXD2B NF2
2	skeletal system morphogenesis	GO:0048705	9.43	SH3PXD2B COL11A1
3	energy homeostasis	GO:0097009	9.4	AMPD3 AMPD2
4	nucleotide metabolic process	GO:0009117	9.37	AMPD3 AMPD2
5	purine ribonucleoside monophosphate biosynthetic process	GO:0009168	9.32	AMPD3 AMPD2
6	purine-containing compound salvage	GO:0043101	9.26	AMPD3 AMPD2
7	AMP metabolic process	GO:0046033	9.16	AMPD3 AMPD2
8	IMP salvage	GO:0032264	8.96	AMPD3 AMPD2
9	IMP biosynthetic process	GO:0006188	8.62	AMPD3 AMPD2

Molecular functions related to Pontocerebellar Hypoplasia, Type 9 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	deaminase activity	GO:0019239	8.96	AMPD3 AMPD2
2	AMP deaminase activity	GO:0003876	8.62	AMPD3 AMPD2

Sources

Sources for Pontocerebellar Hypoplasia, Type 9

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Pontocerebellar Hypoplasia, Type 9 (PCH9)

Aliases & Classifications for Pontocerebellar Hypoplasia, Type 9

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 9:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Pontocerebellar Hypoplasia, Type 9

Related Diseases for Pontocerebellar Hypoplasia, Type 9

Diseases in the Pontocerebellar Hypoplasia family:

Diseases related to Pontocerebellar Hypoplasia, Type 9 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Pontocerebellar Hypoplasia, Type 9:

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 9

Human phenotypes related to Pontocerebellar Hypoplasia, Type 9:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Pontocerebellar Hypoplasia, Type 9:

MGI Mouse Phenotypes related to Pontocerebellar Hypoplasia, Type 9:

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 9

Genetic Tests for Pontocerebellar Hypoplasia, Type 9

Genetic tests related to Pontocerebellar Hypoplasia, Type 9:

Anatomical Context for Pontocerebellar Hypoplasia, Type 9

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

Publications for Pontocerebellar Hypoplasia, Type 9

Articles related to Pontocerebellar Hypoplasia, Type 9:

Genes for Pontocerebellar Hypoplasia, Type 9

Genes related to Pontocerebellar Hypoplasia, Type 9 (1 elite genes):

Variations for Pontocerebellar Hypoplasia, Type 9

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 9:

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

Expression for Pontocerebellar Hypoplasia, Type 9

Pathways for Pontocerebellar Hypoplasia, Type 9

Pathways related to Pontocerebellar Hypoplasia, Type 9 according to GeneCards Suite gene sharing:

GO Terms for Pontocerebellar Hypoplasia, Type 9

Biological processes related to Pontocerebellar Hypoplasia, Type 9 according to GeneCards Suite gene sharing:

Molecular functions related to Pontocerebellar Hypoplasia, Type 9 according to GeneCards Suite gene sharing:

Sources for Pontocerebellar Hypoplasia, Type 9