PTBHS
MCID: PRT101
MIFTS: 29

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 57 59 74 29 6 40 72
Ptbhs 57 74
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity


HPO:

32
poretti-boltshauser syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 57 615960
ICD10 via Orphanet 34 G11.1
Orphanet 59 ORPHA370022
UMLS 72 C4014821

Summaries for Poretti-Boltshauser Syndrome

OMIM : 57 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 generalized hypotonia and nystagmus

UniProtKB/Swiss-Prot : 74 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 aceruloplasminemia 10.5
4 alacrima, achalasia, and mental retardation syndrome 10.5
5 apraxia 10.5
6 myopia 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:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 generalized hypotonia 32 occasional (7.5%) HP:0001290
2 nystagmus 32 HP:0000639
3 delayed speech and language development 32 HP:0000750
4 strabismus 32 HP:0000486
5 myopia 32 HP:0000545
6 motor delay 32 HP:0001270
7 amblyopia 32 HP:0000646
8 retinal thinning 32 HP:0030329
9 oculomotor apraxia 32 HP:0000657
10 cerebellar dysplasia 32 HP:0007033
11 retinal dystrophy 32 HP:0000556
12 cerebellar vermis hypoplasia 32 HP:0001320
13 abnormality of the periventricular white matter 32 HP:0002518
14 dilated fourth ventricle 32 HP:0002198
15 cerebellar cyst 32 HP:0002350
16 retinal atrophy 32 HP:0001105
17 gray matter heterotopia 32 HP:0002282

Symptoms via clinical synopsis from OMIM:

57
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

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:

41
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. 38 8 71
25105227 2014
2
Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease? 8
24013853 2014
3
Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome". 38
29961766 2019
4
Retinal Avascularity and Neovascularization Associated With LAMA1 (laminin1) Mutation in Poretti-Boltshauser Syndrome. 38
29167897 2018
5
Early-onset head titubation in a child with Poretti-Boltshauser syndrome. 38
28283601 2017
6
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome). 38
26932191 2016
7
Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study. 38
27473762 2016

Variations for Poretti-Boltshauser Syndrome

ClinVar genetic disease variations for Poretti-Boltshauser Syndrome:

6 (show all 19)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LAMA1 NM_005559.4(LAMA1): c.588+2T> G single nucleotide variant Pathogenic rs587777677 18:7050691-7050691 18:7050692-7050692
2 LAMA1 NM_005559.4(LAMA1): c.7965-15_7965-3del deletion Pathogenic rs587777678 18:6956767-6956779 18:6956768-6956780
3 LAMA1 NM_005559.4(LAMA1): c.2986del (p.Thr996fs) deletion Pathogenic rs587777679 18:7016493-7016493 18:7016494-7016494
4 LAMA1 NM_005559.4(LAMA1): c.2816_2817del (p.Tyr939fs) deletion Pathogenic rs587777680 18:7016662-7016663 18:7016663-7016664
5 LAMA1 NM_005559.4(LAMA1): c.555T> G (p.Tyr185Ter) single nucleotide variant Pathogenic rs587777681 18:7050726-7050726 18:7050727-7050727
6 LAMA1 NM_005559.4(LAMA1): c.6701del (p.Pro2234fs) deletion Pathogenic rs797045182 18:6973129-6973129 18:6973130-6973130
7 LAMA1 NM_005559.4(LAMA1): c.6345+3G> C single nucleotide variant Pathogenic rs797045184 18:6977723-6977723 18:6977724-6977724
8 LAMA1 deletion Pathogenic 18:7038809-7050936 18:7038809-7050936
9 LAMA1 NM_005559.3: c.2988_2989delA deletion Pathogenic
10 LAMA1 NM_005559.4(LAMA1): c.5407C> T (p.Gln1803Ter) single nucleotide variant Pathogenic 18:6985615-6985615 18:6985616-6985616
11 LAMA1 NM_005559.4(LAMA1): c.8062_8068dup (p.Leu2690fs) duplication Likely pathogenic rs1555643185 18:6956661-6956667 18:6956662-6956668
12 LAMA1 NM_005559.4(LAMA1): c.9197del (p.Phe3066fs) deletion Likely pathogenic rs1555640521 18:6942109-6942109 18:6942110-6942110
13 LAMA1 NM_005559.4(LAMA1): c.2663G> T (p.Gly888Val) single nucleotide variant Likely pathogenic rs1555654766 18:7023201-7023201 18:7023202-7023202
14 LAMA1 NM_005559.4(LAMA1): c.2216G> A (p.Cys739Tyr) single nucleotide variant Likely pathogenic rs1555656402 18:7032123-7032123 18:7032124-7032124
15 LAMA1 NM_005559.4(LAMA1): c.1706G> C (p.Trp569Ser) single nucleotide variant Uncertain significance rs1254270535 18:7037608-7037608 18:7037609-7037609
16 LAMA1 NM_005559.4(LAMA1): c.8557-1G> C single nucleotide variant Uncertain significance rs797045183 18:6948556-6948556 18:6948557-6948557
17 LAMA1 NM_005559.4(LAMA1): c.3052C> G (p.Pro1018Ala) single nucleotide variant Uncertain significance 18:7015795-7015795 18:7015796-7015796
18 LAMA1 NM_005559.4(LAMA1): c.768+1G> A single nucleotide variant Uncertain significance rs769174266 18:7049076-7049076 18:7049077-7049077
19 LAMA1 NM_005559.4(LAMA1): c.1274G> C (p.Gly425Ala) single nucleotide variant not provided 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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