PTBHS
MCID: PRT101
MIFTS: 31

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 56 58 73 29 6 39 71
Ptbhs 56 73
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable severity


HPO:

31
poretti-boltshauser syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Poretti-Boltshauser Syndrome

OMIM : 56 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, also known as ptbhs, is related to ocular motor apraxia and ataxia and polyneuropathy, adult-onset. An important gene associated with Poretti-Boltshauser Syndrome is LAMA1 (Laminin Subunit Alpha 1). Affiliated tissues include eye and pons, and related phenotypes are cognitive impairment and ataxia

UniProtKB/Swiss-Prot : 73 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

Diseases related to Poretti-Boltshauser Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ocular motor apraxia 10.5
2 ataxia and polyneuropathy, adult-onset 10.5
3 alacrima, achalasia, and mental retardation syndrome 10.5
4 joint laxity, short stature, and myopia 10.5
5 apraxia 10.5
6 myopia 10.5
7 retinal vascular disease 10.5

Graphical network of the top 20 diseases related to Poretti-Boltshauser Syndrome:



Diseases related to Poretti-Boltshauser Syndrome

Symptoms & Phenotypes for Poretti-Boltshauser Syndrome

Human phenotypes related to Poretti-Boltshauser Syndrome:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 intellectual disability, moderate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002342
4 cerebellar dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007033
5 cerebellar cyst 58 31 hallmark (90%) Very frequent (99-80%) HP:0002350
6 dilated fourth ventricle 58 31 hallmark (90%) Very frequent (99-80%) HP:0002198
7 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
8 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
9 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
10 amblyopia 58 31 frequent (33%) Frequent (79-30%) HP:0000646
11 oculomotor apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0000657
12 inferior vermis hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0007068
13 retinal atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001105
14 elongated superior cerebellar peduncle 58 31 frequent (33%) Frequent (79-30%) HP:0011933
15 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
16 elevated serum creatine kinase 58 31 occasional (7.5%) Occasional (29-5%) HP:0003236
17 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
18 retinal dystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000556
19 hypermetropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000540
20 head titubation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002599
21 generalized hypotonia 31 occasional (7.5%) HP:0001290
22 delayed speech and language development 58 31 very rare (1%) Very rare (<4-1%) HP:0000750
23 motor delay 31 HP:0001270
24 gray matter heterotopia 31 HP:0002282
25 cerebellar vermis hypoplasia 31 HP:0001320
26 abnormality of the periventricular white matter 31 HP:0002518
27 abnormality of brainstem morphology 58 Frequent (79-30%)
28 retinal thinning 31 HP:0030329

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
strabismus
myopia
amblyopia
retinal dystrophy
more
Neurologic Behavioral Psychiatric Manifestations:
autistic features

Neurologic Central Nervous System:
cerebellar vermis hypoplasia
cerebellar dysplasia
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

Search Clinical Trials , 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 29 LAMA1

Anatomical Context for Poretti-Boltshauser Syndrome

MalaCards organs/tissues related to Poretti-Boltshauser Syndrome:

40
Eye, Pons

Publications for Poretti-Boltshauser Syndrome

Articles related to Poretti-Boltshauser Syndrome:

# Title Authors PMID Year
1
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy. 6 61 56
25105227 2014
2
Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease? 56
24013853 2014
3
OCULAR MANIFESTATIONS OF PORETTI-BOLTSHAUSER SYNDROME: FINDINGS FROM MULTIMODAL IMAGING AND ELECTROPHYSIOLOGY. 61
32195884 2020
4
Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome". 61
29961766 2019
5
Retinal Avascularity and Neovascularization Associated With LAMA1 (laminin1) Mutation in Poretti-Boltshauser Syndrome. 61
29167897 2018
6
Early-onset head titubation in a child with Poretti-Boltshauser syndrome. 61
28283601 2017
7
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome). 61
26932191 2016
8
Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study. 61
27473762 2016

Variations for Poretti-Boltshauser Syndrome

ClinVar genetic disease variations for Poretti-Boltshauser Syndrome:

6 (show all 23) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LAMA1 NM_005559.4(LAMA1):c.5407C>T (p.Gln1803Ter)SNV Pathogenic 584439 rs1568019012 18:6985615-6985615 18:6985616-6985616
2 LAMA1 NM_005559.4(LAMA1):c.588+2T>GSNV Pathogenic 144107 rs587777677 18:7050691-7050691 18:7050692-7050692
3 LAMA1 NM_005559.4(LAMA1):c.7965-15_7965-3deldeletion Pathogenic 144108 rs587777678 18:6956767-6956779 18:6956768-6956780
4 LAMA1 NM_005559.4(LAMA1):c.2986del (p.Thr996fs)deletion Pathogenic 144109 rs587777679 18:7016493-7016493 18:7016494-7016494
5 LAMA1 NM_005559.4(LAMA1):c.2816_2817del (p.Tyr939fs)deletion Pathogenic 144110 rs587777680 18:7016662-7016663 18:7016663-7016664
6 LAMA1 NM_005559.4(LAMA1):c.555T>G (p.Tyr185Ter)SNV Pathogenic 144111 rs587777681 18:7050726-7050726 18:7050727-7050727
7 LAMA1 NM_005559.4(LAMA1):c.6701del (p.Pro2234fs)deletion Pathogenic 209987 rs797045182 18:6973129-6973129 18:6973130-6973130
8 LAMA1 NM_005559.4(LAMA1):c.6345+3G>CSNV Pathogenic 209991 rs797045184 18:6977723-6977723 18:6977724-6977724
9 LAMA1 deletion Pathogenic 209992 18:7038809-7050936 18:7038809-7050936
10 LAMA1 NM_005559.3:c.2988_2989delAdeletion Pathogenic 209990
11 LAMA1 NM_005559.4(LAMA1):c.8062_8068dup (p.Leu2690fs)duplication Likely pathogenic 517432 rs1555643185 18:6956660-6956661 18:6956661-6956662
12 LAMA1 NM_005559.4(LAMA1):c.9197del (p.Phe3066fs)deletion Likely pathogenic 522847 rs1555640521 18:6942109-6942109 18:6942110-6942110
13 LAMA1 NM_005559.4(LAMA1):c.768+1G>ASNV Conflicting interpretations of pathogenicity 209989 rs769174266 18:7049076-7049076 18:7049077-7049077
14 LAMA1 NM_005559.4(LAMA1):c.8557-1G>CSNV Uncertain significance 209988 rs797045183 18:6948556-6948556 18:6948557-6948557
15 LAMA1 NM_005559.4(LAMA1):c.1706G>C (p.Trp569Ser)SNV Uncertain significance 522848 rs1254270535 18:7037608-7037608 18:7037609-7037609
16 LAMA1 NM_005559.4(LAMA1):c.2663G>T (p.Gly888Val)SNV Uncertain significance 522998 rs1555654766 18:7023201-7023201 18:7023202-7023202
17 LAMA1 NM_005559.4(LAMA1):c.2216G>A (p.Cys739Tyr)SNV Uncertain significance 522946 rs1555656402 18:7032123-7032123 18:7032124-7032124
18 LAMA1 NM_005559.4(LAMA1):c.3052C>G (p.Pro1018Ala)SNV Uncertain significance 587464 rs750460729 18:7015795-7015795 18:7015796-7015796
19 LAMA1 NM_005559.4(LAMA1):c.4729T>G (p.Ser1577Ala)SNV Benign 803471 18:6997818-6997818 18:6997819-6997819
20 LAMA1 NM_005559.4(LAMA1):c.2274+70dupduplication Benign 803472 18:7031986-7031987 18:7031987-7031988
21 LAMA1 NM_005559.4(LAMA1):c.2021A>C (p.Asn674Thr)SNV Benign 803473 18:7034508-7034508 18:7034509-7034509
22 LAMA1 deletion not provided 684542 18:7015616-7017393
23 LAMA1 NM_005559.4(LAMA1):c.1274G>C (p.Gly425Ala)SNV not provided 441028 rs368665310 18:7040223-7040223 18:7040224-7040224

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
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43 MeSH
44 MESH via Orphanet
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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