Poretti-Boltshauser Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Poretti-Boltshauser Syndrome

MalaCards integrated aliases for Poretti-Boltshauser Syndrome:

Name: Poretti-Boltshauser Syndrome ⁵⁸ ⁶⁰ ⁷⁶ ³⁰ ⁶ ⁴¹ ⁷⁴

Ptbhs ⁵⁸ ⁷⁶

Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁸

Inheritance:
autosomal recessive

Miscellaneous:
variable severity

HPO:

³³

poretti-boltshauser syndrome:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Early-onset cerebellar ataxia

Orphanet: ⁶⁰

Rare neurological diseases

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 615960

MeSH ⁴⁵ D002526 D015835 D019954

ICD10 via Orphanet ³⁵ G11.1

Orphanet ⁶⁰ ORPHA370022

MedGen ⁴³ C4014821 CN218429

SNOMED-CT via HPO ⁷⁰ 128490007 128602000 162294008 more

UMLS ⁷⁴ C4014821

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Summaries for Poretti-Boltshauser Syndrome

OMIM : ⁵⁸ Poretti-Boltshauser syndrome is an autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis hypoplasia, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities. Affected individuals have delayed motor development and often have speech delay. Cognitive function can range from normal to intellectually disabled (summary by Aldinger et al., 2014). (615960)

MalaCards based summary : Poretti-Boltshauser Syndrome, is also known as ptbhs. An important gene associated with Poretti-Boltshauser Syndrome is LAMA1 (Laminin Subunit Alpha 1). Affiliated tissues include eye and pons, and related phenotypes are generalized hypotonia and nystagmus

UniProtKB/Swiss-Prot : ⁷⁶ Poretti-Boltshauser syndrome: An autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis atrophy, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities including strabismus, ocular apraxia, nystagmus. Affected individuals have ataxia, delayed motor development, language impairment, and intellectual disability with variable severity.

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Related Diseases for Poretti-Boltshauser Syndrome

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Symptoms & Phenotypes for Poretti-Boltshauser Syndrome

Human phenotypes related to Poretti-Boltshauser Syndrome:

³³ (show all 17)

#	Description	HPO Frequency	HPO Source Accession
1	generalized hypotonia ³³	occasional (7.5%)	HP:0001290
2	nystagmus ³³		HP:0000639
3	delayed speech and language development ³³		HP:0000750
4	strabismus ³³		HP:0000486
5	myopia ³³		HP:0000545
6	motor delay ³³		HP:0001270
7	amblyopia ³³		HP:0000646
8	retinal thinning ³³		HP:0030329
9	oculomotor apraxia ³³		HP:0000657
10	cerebellar dysplasia ³³		HP:0007033
11	retinal dystrophy ³³		HP:0000556
12	cerebellar vermis hypoplasia ³³		HP:0001320
13	abnormality of the periventricular white matter ³³		HP:0002518
14	dilated fourth ventricle ³³		HP:0002198
15	cerebellar cyst ³³		HP:0002350
16	retinal atrophy ³³		HP:0001105
17	gray matter heterotopia ³³		HP:0002282

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Eyes:
nystagmus
strabismus
myopia
amblyopia
oculomotor apraxia
more

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Neurologic Central Nervous System:
cerebellar dysplasia
cerebellar vermis hypoplasia
delayed motor development
enlarged fourth ventricle
periventricular white matter abnormalities
more

Muscle Soft Tissue:
hypotonia (in some patients)

Clinical features from OMIM:

615960

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Drugs & Therapeutics for Poretti-Boltshauser Syndrome

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford	Recruiting	NCT01793168

Search NIH Clinical Center for Poretti-Boltshauser Syndrome

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Genetic Tests for Poretti-Boltshauser Syndrome

Genetic tests related to Poretti-Boltshauser Syndrome:

#	Genetic test	Affiliating Genes
1	Poretti-Boltshauser Syndrome ³⁰	LAMA1

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Anatomical Context for Poretti-Boltshauser Syndrome

MalaCards organs/tissues related to Poretti-Boltshauser Syndrome:

⁴²

Eye, Pons

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Publications for Poretti-Boltshauser Syndrome

Articles related to Poretti-Boltshauser Syndrome:

#	Title	Authors	Year
1	Retinal Avascularity and Neovascularization Associated With LAMA1 (laminin1) Mutation in Poretti-Boltshauser Syndrome. ( 29167897 )	Marlow E...Gupta MP	2018
2	Early-onset head titubation in a child with Poretti-Boltshauser syndrome. ( 28283601 )	Masson R...Cantalupo G	2017
3	Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome). ( 26932191 )	Micalizzi A...Valente EM	2016
4	Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. ( 25105227 )	Aldinger KA...Doherty D	2014

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Genes for Poretti-Boltshauser Syndrome

Genes related to Poretti-Boltshauser Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LAMA1	Laminin Subunit Alpha 1	Protein Coding	1399.44	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Genetic Tests ³⁰ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	25105227
2	LOC101927188	Uncharacterized LOC101927188	RNA Gene	8	GeneCards inferred via : Variants (show sections)

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Variations for Poretti-Boltshauser Syndrome

ClinVar genetic disease variations for Poretti-Boltshauser Syndrome:

⁶ (show all 37)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	LAMA1	NM_005559.3(LAMA1): c.588+2T> G	single nucleotide variant	Pathogenic	rs587777677	GRCh38	Chromosome 18, 7050692: 7050692
2	LAMA1	NM_005559.3(LAMA1): c.588+2T> G	single nucleotide variant	Pathogenic	rs587777677	GRCh37	Chromosome 18, 7050691: 7050691
3	LAMA1	NM_005559.3(LAMA1): c.7965-15_7965-3del	deletion	Pathogenic	rs587777678	GRCh38	Chromosome 18, 6956768: 6956780
4	LAMA1	NM_005559.3(LAMA1): c.7965-15_7965-3del	deletion	Pathogenic	rs587777678	GRCh37	Chromosome 18, 6956767: 6956779
5	LAMA1	NM_005559.3(LAMA1): c.2986delA (p.Thr996Hisfs)	deletion	Pathogenic	rs587777679	GRCh38	Chromosome 18, 7016494: 7016494
6	LAMA1	NM_005559.3(LAMA1): c.2986delA (p.Thr996Hisfs)	deletion	Pathogenic	rs587777679	GRCh37	Chromosome 18, 7016493: 7016493
7	LAMA1	NM_005559.3(LAMA1): c.2816_2817delAT (p.Tyr939Leufs)	deletion	Pathogenic	rs587777680	GRCh38	Chromosome 18, 7016663: 7016664
8	LAMA1	NM_005559.3(LAMA1): c.2816_2817delAT (p.Tyr939Leufs)	deletion	Pathogenic	rs587777680	GRCh37	Chromosome 18, 7016662: 7016663
9	LAMA1	NM_005559.3(LAMA1): c.555T> G (p.Tyr185Ter)	single nucleotide variant	Pathogenic	rs587777681	GRCh38	Chromosome 18, 7050727: 7050727
10	LAMA1	NM_005559.3(LAMA1): c.555T> G (p.Tyr185Ter)	single nucleotide variant	Pathogenic	rs587777681	GRCh37	Chromosome 18, 7050726: 7050726
11	LAMA1	NG_034251.1: g.71879_84006del12128	deletion	Pathogenic		GRCh38	Chromosome 18, 7038809: 7050936
12	LAMA1	NM_005559.3(LAMA1): c.8557-1G> C	single nucleotide variant	Uncertain significance	rs797045183	GRCh38	Chromosome 18, 6948557: 6948557
13	LAMA1	NM_005559.3(LAMA1): c.8557-1G> C	single nucleotide variant	Uncertain significance	rs797045183	GRCh37	Chromosome 18, 6948556: 6948556
14	LAMA1	NM_005559.3(LAMA1): c.6701delC (p.Pro2234Leufs)	deletion	Pathogenic	rs797045182	GRCh38	Chromosome 18, 6973130: 6973130
15	LAMA1	NM_005559.3(LAMA1): c.6701delC (p.Pro2234Leufs)	deletion	Pathogenic	rs797045182	GRCh37	Chromosome 18, 6973129: 6973129
16	LAMA1	NM_005559.3(LAMA1): c.6345+3G> C	single nucleotide variant	Pathogenic	rs797045184	GRCh38	Chromosome 18, 6977724: 6977724
17	LAMA1	NM_005559.3(LAMA1): c.6345+3G> C	single nucleotide variant	Pathogenic	rs797045184	GRCh37	Chromosome 18, 6977723: 6977723
18	LAMA1	NG_034251.1: g.71879_84006del12128	deletion	Pathogenic		GRCh37	Chromosome 18, 7038809: 7050936
19	LAMA1	NM_005559.3(LAMA1): c.768+1G> A	single nucleotide variant	Uncertain significance	rs769174266	GRCh37	Chromosome 18, 7049076: 7049076
20	LAMA1	NM_005559.3(LAMA1): c.768+1G> A	single nucleotide variant	Uncertain significance	rs769174266	GRCh38	Chromosome 18, 7049077: 7049077
21	LAMA1	NM_005559.3: c.2988_2989delA	deletion	Pathogenic
22	LAMA1	NM_005559.3(LAMA1): c.1274G> C (p.Gly425Ala)	single nucleotide variant	not provided	rs368665310	GRCh37	Chromosome 18, 7040223: 7040223
23	LAMA1	NM_005559.3(LAMA1): c.1274G> C (p.Gly425Ala)	single nucleotide variant	not provided	rs368665310	GRCh38	Chromosome 18, 7040224: 7040224
24	LAMA1	NM_005559.3(LAMA1): c.8062_8068dup (p.Leu2690Glnfs)	duplication	Likely pathogenic	rs1555643185	GRCh38	Chromosome 18, 6956662: 6956668
25	LAMA1	NM_005559.3(LAMA1): c.8062_8068dup (p.Leu2690Glnfs)	duplication	Likely pathogenic	rs1555643185	GRCh37	Chromosome 18, 6956661: 6956667
26	LAMA1	NM_005559.3(LAMA1): c.9197delT (p.Phe3066Serfs)	deletion	Likely pathogenic	rs1555640521	GRCh37	Chromosome 18, 6942109: 6942109
27	LAMA1	NM_005559.3(LAMA1): c.9197delT (p.Phe3066Serfs)	deletion	Likely pathogenic	rs1555640521	GRCh38	Chromosome 18, 6942110: 6942110
28	LAMA1	NM_005559.3(LAMA1): c.1706G> C (p.Trp569Ser)	single nucleotide variant	Uncertain significance	rs1254270535	GRCh38	Chromosome 18, 7037609: 7037609
29	LAMA1	NM_005559.3(LAMA1): c.1706G> C (p.Trp569Ser)	single nucleotide variant	Uncertain significance	rs1254270535	GRCh37	Chromosome 18, 7037608: 7037608
30	LAMA1	NM_005559.3(LAMA1): c.2663G> T (p.Gly888Val)	single nucleotide variant	Likely pathogenic	rs1555654766	GRCh38	Chromosome 18, 7023202: 7023202
31	LAMA1	NM_005559.3(LAMA1): c.2663G> T (p.Gly888Val)	single nucleotide variant	Likely pathogenic	rs1555654766	GRCh37	Chromosome 18, 7023201: 7023201
32	LAMA1	NM_005559.3(LAMA1): c.2216G> A (p.Cys739Tyr)	single nucleotide variant	Likely pathogenic	rs1555656402	GRCh38	Chromosome 18, 7032124: 7032124
33	LAMA1	NM_005559.3(LAMA1): c.2216G> A (p.Cys739Tyr)	single nucleotide variant	Likely pathogenic	rs1555656402	GRCh37	Chromosome 18, 7032123: 7032123
34	LAMA1	NM_005559.3(LAMA1): c.5407C> T (p.Gln1803Ter)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 18, 6985615: 6985615
35	LAMA1	NM_005559.3(LAMA1): c.5407C> T (p.Gln1803Ter)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 18, 6985616: 6985616
36	LAMA1	NM_005559.3(LAMA1): c.3052C> G (p.Pro1018Ala)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 18, 7015796: 7015796
37	LAMA1	NM_005559.3(LAMA1): c.3052C> G (p.Pro1018Ala)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 18, 7015795: 7015795

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Expression for Poretti-Boltshauser Syndrome

Search GEO for disease gene expression data for Poretti-Boltshauser Syndrome.

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Pathways for Poretti-Boltshauser Syndrome

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GO Terms for Poretti-Boltshauser Syndrome

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Poretti-Boltshauser Syndrome (PTBHS)

Aliases & Classifications for Poretti-Boltshauser Syndrome

MalaCards integrated aliases for Poretti-Boltshauser Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Poretti-Boltshauser Syndrome

Related Diseases for Poretti-Boltshauser Syndrome

Symptoms & Phenotypes for Poretti-Boltshauser Syndrome

Human phenotypes related to Poretti-Boltshauser Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Poretti-Boltshauser Syndrome

Interventional clinical trials:

Genetic Tests for Poretti-Boltshauser Syndrome

Genetic tests related to Poretti-Boltshauser Syndrome:

Anatomical Context for Poretti-Boltshauser Syndrome

MalaCards organs/tissues related to Poretti-Boltshauser Syndrome:

Publications for Poretti-Boltshauser Syndrome

Articles related to Poretti-Boltshauser Syndrome:

Genes for Poretti-Boltshauser Syndrome

Genes related to Poretti-Boltshauser Syndrome (1 elite genes):

Variations for Poretti-Boltshauser Syndrome

ClinVar genetic disease variations for Poretti-Boltshauser Syndrome:

Expression for Poretti-Boltshauser Syndrome

Pathways for Poretti-Boltshauser Syndrome

GO Terms for Poretti-Boltshauser Syndrome

Sources for Poretti-Boltshauser Syndrome