PILBOS
MCID: PLR024
MIFTS: 22

Pilarowski-Bjornsson Syndrome (PILBOS)

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

Aliases & Classifications for Pilarowski-Bjornsson Syndrome

MalaCards integrated aliases for Pilarowski-Bjornsson Syndrome:

Name: Pilarowski-Bjornsson Syndrome 57 58 72 6
Developmental Delay and Speech Apraxia with or Without Seizures 57 72
Pilbos 57 72
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
highly variable phenotype
de novo mutation


HPO:

31
pilarowski-bjornsson syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Pilarowski-Bjornsson Syndrome

OMIM® : 57 Pilarowski-Bjornsson syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2018). (617682) (Updated 05-Apr-2021)

MalaCards based summary : Pilarowski-Bjornsson Syndrome, is also known as developmental delay and speech apraxia with or without seizures. An important gene associated with Pilarowski-Bjornsson Syndrome is CHD1 (Chromodomain Helicase DNA Binding Protein 1). Related phenotypes are global developmental delay and generalized hypotonia

UniProtKB/Swiss-Prot : 72 Pilarowski-Bjornsson syndrome: An autosomal dominant disorder characterized by developmental delay, speech apraxia, intellectual disability, autism, and facial dysmorphic features. Some patients may have seizures.

Related Diseases for Pilarowski-Bjornsson Syndrome

Symptoms & Phenotypes for Pilarowski-Bjornsson Syndrome

Human phenotypes related to Pilarowski-Bjornsson Syndrome:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 generalized hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001290
3 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
4 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
5 thick eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0000574
6 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
7 pointed chin 58 31 frequent (33%) Frequent (79-30%) HP:0000307
8 midface retrusion 58 31 frequent (33%) Frequent (79-30%) HP:0011800
9 almond-shaped palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0007874
10 speech apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0011098
11 dermal translucency 58 31 frequent (33%) Frequent (79-30%) HP:0010648
12 allergy 58 31 frequent (33%) Frequent (79-30%) HP:0012393
13 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
14 stereotypy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000733
15 immunodeficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002721
16 postnatal growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0008897
17 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
18 abnormal fingertip morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001211
19 seizure 31 very rare (1%) HP:0001250
20 seizures 58 Occasional (29-5%)
21 periorbital fullness 31 HP:0000629
22 broad eyebrow 31 HP:0011229

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
macrocephaly
frontal bossing

Head And Neck Face:
pointed chin
depressed midface

Muscle Soft Tissue:
hypotonia

Growth Other:
growth retardation, postnatal

Immunology:
immune deficiency, mild
allergic manifestations

Neurologic Central Nervous System:
intellectual disability
speech apraxia
developmental delay
seizures (in some patients)

Head And Neck Eyes:
periorbital fullness
downslanting palpebral fissures
flared eyebrows
almond-shaped eyes

Neurologic Behavioral Psychiatric Manifestations:
autistic features
stereotypies

Skin Nails Hair Skin:
translucent skins

Clinical features from OMIM®:

617682 (Updated 05-Apr-2021)

Drugs & Therapeutics for Pilarowski-Bjornsson Syndrome

Search Clinical Trials , NIH Clinical Center for Pilarowski-Bjornsson Syndrome

Genetic Tests for Pilarowski-Bjornsson Syndrome

Anatomical Context for Pilarowski-Bjornsson Syndrome

Publications for Pilarowski-Bjornsson Syndrome

Articles related to Pilarowski-Bjornsson Syndrome:

# Title Authors PMID Year
1
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability. 57 6
28866611 2018
2
Using an aquatic model, Xenopus laevis, to uncover the role of chromodomain 1 in craniofacial disorders. 61
32918369 2021

Variations for Pilarowski-Bjornsson Syndrome

ClinVar genetic disease variations for Pilarowski-Bjornsson Syndrome:

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHD1 NM_001270.2(CHD1):c.1853G>A (p.Arg618Gln) SNV Pathogenic 438819 rs1554078349 GRCh37: 5:98229258-98229258
GRCh38: 5:98893554-98893554
2 CHD1 NM_001270.2(CHD1):c.5123G>A (p.Arg1708Gln) SNV Pathogenic 438820 rs1293161341 GRCh37: 5:98192094-98192094
GRCh38: 5:98856390-98856390
3 CHD1 NM_001270.2(CHD1):c.1379G>A (p.Arg460Lys) SNV Pathogenic 438821 rs1554078856 GRCh37: 5:98233011-98233011
GRCh38: 5:98897307-98897307
4 CHD1 NM_001270.2(CHD1):c.421A>G (p.Arg141Gly) SNV Pathogenic 422585 rs1064795875 GRCh37: 5:98238620-98238620
GRCh38: 5:98902916-98902916
5 CHD1 NM_001270.4(CHD1):c.205T>C (p.Ser69Pro) SNV Uncertain significance 1027854 GRCh37: 5:98240651-98240651
GRCh38: 5:98904947-98904947
6 CHD1 NM_001270.4(CHD1):c.3335G>T (p.Arg1112Leu) SNV Uncertain significance 1027855 GRCh37: 5:98212165-98212165
GRCh38: 5:98876461-98876461
7 CHD1 NM_001270.4(CHD1):c.4551G>T (p.Leu1517Phe) SNV Uncertain significance 1027856 GRCh37: 5:98194693-98194693
GRCh38: 5:98858989-98858989
8 CHD1 NM_001270.4(CHD1):c.4792T>C (p.Tyr1598His) SNV Uncertain significance 1027857 GRCh37: 5:98192425-98192425
GRCh38: 5:98856721-98856721
9 CHD1 NM_001270.4(CHD1):c.271C>T (p.Pro91Ser) SNV Uncertain significance 1031943 GRCh37: 5:98239597-98239597
GRCh38: 5:98903893-98903893
10 CHD1 NM_001270.4(CHD1):c.4427+17T>G SNV Uncertain significance 1031944 GRCh37: 5:98199095-98199095
GRCh38: 5:98863391-98863391
11 CHD1 NM_001270.4(CHD1):c.242T>C (p.Val81Ala) SNV Uncertain significance 1033800 GRCh37: 5:98240614-98240614
GRCh38: 5:98904910-98904910
12 CHD1 NM_001270.2(CHD1):c.4894C>G (p.Arg1632Gly) SNV Uncertain significance 635459 rs374564623 GRCh37: 5:98192323-98192323
GRCh38: 5:98856619-98856619
13 CHD1 NM_001270.2(CHD1):c.470C>G (p.Pro157Arg) SNV Uncertain significance 635463 rs1580471120 GRCh37: 5:98237007-98237007
GRCh38: 5:98901303-98901303
14 CHD1 NM_001270.4(CHD1):c.2848A>G (p.Thr950Ala) SNV Uncertain significance 930735 GRCh37: 5:98217698-98217698
GRCh38: 5:98881994-98881994
15 CHD1 NM_001270.4(CHD1):c.662A>T (p.Asp221Val) SNV Uncertain significance 982846 GRCh37: 5:98236712-98236712
GRCh38: 5:98901008-98901008
16 CHD1 NM_001270.4(CHD1):c.3337G>A (p.Gly1113Arg) SNV Uncertain significance 996964 GRCh37: 5:98212163-98212163
GRCh38: 5:98876459-98876459

UniProtKB/Swiss-Prot genetic disease variations for Pilarowski-Bjornsson Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 CHD1 p.Arg141Gly VAR_080265 rs106479587
2 CHD1 p.Arg460Lys VAR_080266 rs155407885
3 CHD1 p.Arg618Gln VAR_080267 rs155407834
4 CHD1 p.Arg1708Gln VAR_080268 rs129316134

Expression for Pilarowski-Bjornsson Syndrome

Search GEO for disease gene expression data for Pilarowski-Bjornsson Syndrome.

Pathways for Pilarowski-Bjornsson Syndrome

GO Terms for Pilarowski-Bjornsson Syndrome

Sources for Pilarowski-Bjornsson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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