MCID: PRT101
MIFTS: 24

Poretti-Boltshauser Syndrome

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

Aliases & Classifications for Poretti-Boltshauser Syndrome

MalaCards integrated aliases for Poretti-Boltshauser Syndrome:

Name: Poretti-Boltshauser Syndrome 57 59 75 29 6 40 73
Ptbhs 57 75
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:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



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 retinitis. An important gene associated with Poretti-Boltshauser Syndrome is LAMA1 (Laminin Subunit Alpha 1). Affiliated tissues include eye and pons, and related phenotypes are nystagmus and delayed speech and language development

UniProtKB/Swiss-Prot : 75 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 retinitis 10.3

Symptoms & Phenotypes for Poretti-Boltshauser Syndrome

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

Human phenotypes related to Poretti-Boltshauser Syndrome:

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

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 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 34)
# 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 NM_005559.3(LAMA1): c.8557-1G> C single nucleotide variant Uncertain significance rs797045183 GRCh38 Chromosome 18, 6948557: 6948557
12 LAMA1 NM_005559.3(LAMA1): c.8557-1G> C single nucleotide variant Uncertain significance rs797045183 GRCh37 Chromosome 18, 6948556: 6948556
13 LAMA1 NM_005559.3(LAMA1): c.6701delC (p.Pro2234Leufs) deletion Pathogenic rs797045182 GRCh38 Chromosome 18, 6973130: 6973130
14 LAMA1 NM_005559.3(LAMA1): c.6701delC (p.Pro2234Leufs) deletion Pathogenic rs797045182 GRCh37 Chromosome 18, 6973129: 6973129
15 LAMA1 NM_005559.3(LAMA1): c.6345+3G> C single nucleotide variant Pathogenic rs797045184 GRCh38 Chromosome 18, 6977724: 6977724
16 LAMA1 NM_005559.3(LAMA1): c.6345+3G> C single nucleotide variant Pathogenic rs797045184 GRCh37 Chromosome 18, 6977723: 6977723
17 LAMA1 NG_034251.1: g.71879_84006del12128 deletion Pathogenic GRCh38 Chromosome 18, 7038809: 7050936
18 LAMA1 NM_005559.3(LAMA1): c.768+1G> A single nucleotide variant Uncertain significance rs769174266 GRCh37 Chromosome 18, 7049076: 7049076
19 LAMA1 NM_005559.3(LAMA1): c.768+1G> A single nucleotide variant Uncertain significance rs769174266 GRCh38 Chromosome 18, 7049077: 7049077
20 LAMA1 NM_005559.3: c.2988_2989delA deletion Pathogenic
21 LAMA1 NM_005559.3(LAMA1): c.1274G> C (p.Gly425Ala) single nucleotide variant not provided rs368665310 GRCh37 Chromosome 18, 7040223: 7040223
22 LAMA1 NM_005559.3(LAMA1): c.1274G> C (p.Gly425Ala) single nucleotide variant not provided rs368665310 GRCh38 Chromosome 18, 7040224: 7040224
23 LAMA1 NM_005559.3(LAMA1): c.505C> T (p.Arg169Ter) single nucleotide variant Pathogenic rs752872595 GRCh37 Chromosome 18, 7050776: 7050776
24 LAMA1 NM_005559.3(LAMA1): c.505C> T (p.Arg169Ter) single nucleotide variant Pathogenic rs752872595 GRCh38 Chromosome 18, 7050777: 7050777
25 LAMA1 NM_005559.3(LAMA1): c.8062_8068dup (p.Leu2690Glnfs) duplication Likely pathogenic GRCh38 Chromosome 18, 6956662: 6956668
26 LAMA1 NM_005559.3(LAMA1): c.8062_8068dup (p.Leu2690Glnfs) duplication Likely pathogenic GRCh37 Chromosome 18, 6956661: 6956667
27 LAMA1 NM_005559.3(LAMA1): c.9197delT (p.Phe3066Serfs) deletion Likely pathogenic GRCh37 Chromosome 18, 6942109: 6942109
28 LAMA1 NM_005559.3(LAMA1): c.9197delT (p.Phe3066Serfs) deletion Likely pathogenic GRCh38 Chromosome 18, 6942110: 6942110
29 LAMA1 NM_005559.3(LAMA1): c.1706G> C (p.Trp569Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 7037609: 7037609
30 LAMA1 NM_005559.3(LAMA1): c.1706G> C (p.Trp569Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 7037608: 7037608
31 LAMA1 NM_005559.3(LAMA1): c.2663G> T (p.Gly888Val) single nucleotide variant Likely pathogenic GRCh38 Chromosome 18, 7023202: 7023202
32 LAMA1 NM_005559.3(LAMA1): c.2663G> T (p.Gly888Val) single nucleotide variant Likely pathogenic GRCh37 Chromosome 18, 7023201: 7023201
33 LAMA1 NM_005559.3(LAMA1): c.2216G> A (p.Cys739Tyr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 18, 7032124: 7032124
34 LAMA1 NM_005559.3(LAMA1): c.2216G> A (p.Cys739Tyr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 18, 7032123: 7032123

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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