PTBHS
MCID: PRT101
MIFTS: 24

Poretti-Boltshauser Syndrome (PTBHS)

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

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:



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.

Related Diseases for Poretti-Boltshauser Syndrome

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 heterotopia 33 HP:0002282
12 retinal dystrophy 33 HP:0000556
13 cerebellar vermis hypoplasia 33 HP:0001320
14 abnormality of the periventricular white matter 33 HP:0002518
15 dilated fourth ventricle 33 HP:0002198
16 cerebellar cyst 33 HP:0002350
17 retinal atrophy 33 HP:0001105

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

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

Genetic Tests for Poretti-Boltshauser Syndrome

Genetic tests related to Poretti-Boltshauser Syndrome:

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

Anatomical Context for Poretti-Boltshauser Syndrome

MalaCards organs/tissues related to Poretti-Boltshauser Syndrome:

42
Eye, Pons

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 )
2018
2
Early-onset head titubation in a child with Poretti-Boltshauser syndrome. ( 28283601 )
2017
3
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome). ( 26932191 )
2016

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.8557-1G> C single nucleotide variant Uncertain significance rs797045183 GRCh38 Chromosome 18, 6948557: 6948557
2 LAMA1 NM_005559.3(LAMA1): c.8557-1G> C single nucleotide variant Uncertain significance rs797045183 GRCh37 Chromosome 18, 6948556: 6948556
3 LAMA1 NM_005559.3(LAMA1): c.6701delC (p.Pro2234Leufs) deletion Pathogenic rs797045182 GRCh38 Chromosome 18, 6973130: 6973130
4 LAMA1 NM_005559.3(LAMA1): c.6701delC (p.Pro2234Leufs) deletion Pathogenic rs797045182 GRCh37 Chromosome 18, 6973129: 6973129
5 LAMA1 NM_005559.3(LAMA1): c.6345+3G> C single nucleotide variant Pathogenic rs797045184 GRCh38 Chromosome 18, 6977724: 6977724
6 LAMA1 NM_005559.3(LAMA1): c.6345+3G> C single nucleotide variant Pathogenic rs797045184 GRCh37 Chromosome 18, 6977723: 6977723
7 LAMA1 NG_034251.1: g.71879_84006del12128 deletion Pathogenic GRCh38 Chromosome 18, 7038809: 7050936
8 LAMA1 NG_034251.1: g.71879_84006del12128 deletion Pathogenic GRCh37 Chromosome 18, 7038809: 7050936
9 LAMA1 NM_005559.3(LAMA1): c.768+1G> A single nucleotide variant Uncertain significance rs769174266 GRCh37 Chromosome 18, 7049076: 7049076
10 LAMA1 NM_005559.3(LAMA1): c.768+1G> A single nucleotide variant Uncertain significance rs769174266 GRCh38 Chromosome 18, 7049077: 7049077
11 LAMA1 NM_005559.3: c.2988_2989delA deletion Pathogenic
12 LAMA1 NM_005559.3(LAMA1): c.588+2T> G single nucleotide variant Pathogenic rs587777677 GRCh38 Chromosome 18, 7050692: 7050692
13 LAMA1 NM_005559.3(LAMA1): c.588+2T> G single nucleotide variant Pathogenic rs587777677 GRCh37 Chromosome 18, 7050691: 7050691
14 LAMA1 NM_005559.3(LAMA1): c.7965-15_7965-3del deletion Pathogenic rs587777678 GRCh38 Chromosome 18, 6956768: 6956780
15 LAMA1 NM_005559.3(LAMA1): c.7965-15_7965-3del deletion Pathogenic rs587777678 GRCh37 Chromosome 18, 6956767: 6956779
16 LAMA1 NM_005559.3(LAMA1): c.2986delA (p.Thr996Hisfs) deletion Pathogenic rs587777679 GRCh38 Chromosome 18, 7016494: 7016494
17 LAMA1 NM_005559.3(LAMA1): c.2986delA (p.Thr996Hisfs) deletion Pathogenic rs587777679 GRCh37 Chromosome 18, 7016493: 7016493
18 LAMA1 NM_005559.3(LAMA1): c.2816_2817delAT (p.Tyr939Leufs) deletion Pathogenic rs587777680 GRCh38 Chromosome 18, 7016663: 7016664
19 LAMA1 NM_005559.3(LAMA1): c.2816_2817delAT (p.Tyr939Leufs) deletion Pathogenic rs587777680 GRCh37 Chromosome 18, 7016662: 7016663
20 LAMA1 NM_005559.3(LAMA1): c.555T> G (p.Tyr185Ter) single nucleotide variant Pathogenic rs587777681 GRCh38 Chromosome 18, 7050727: 7050727
21 LAMA1 NM_005559.3(LAMA1): c.555T> G (p.Tyr185Ter) single nucleotide variant Pathogenic rs587777681 GRCh37 Chromosome 18, 7050726: 7050726
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.1706G> C (p.Trp569Ser) single nucleotide variant Uncertain significance rs1254270535 GRCh37 Chromosome 18, 7037608: 7037608
27 LAMA1 NM_005559.3(LAMA1): c.9197delT (p.Phe3066Serfs) deletion Likely pathogenic rs1555640521 GRCh37 Chromosome 18, 6942109: 6942109
28 LAMA1 NM_005559.3(LAMA1): c.9197delT (p.Phe3066Serfs) deletion Likely pathogenic rs1555640521 GRCh38 Chromosome 18, 6942110: 6942110
29 LAMA1 NM_005559.3(LAMA1): c.1706G> C (p.Trp569Ser) single nucleotide variant Uncertain significance rs1254270535 GRCh38 Chromosome 18, 7037609: 7037609
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

Expression for Poretti-Boltshauser Syndrome

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

Pathways for Poretti-Boltshauser Syndrome

GO Terms for Poretti-Boltshauser Syndrome

Sources for Poretti-Boltshauser Syndrome

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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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20 FMA
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35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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