PILBOS
MCID: PLR024
MIFTS: 19

Pilarowski-Bjornsson Syndrome (PILBOS)

Categories: Genetic diseases

Aliases & Classifications for Pilarowski-Bjornsson Syndrome

MalaCards integrated aliases for Pilarowski-Bjornsson Syndrome:

Name: Pilarowski-Bjornsson Syndrome 57 75 6
Developmental Delay and Speech Apraxia with or Without Seizures 57 75
Pilbos 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
highly variable phenotype
de novo mutation


HPO:

32
pilarowski-bjornsson syndrome:
Onset and clinical course phenotypic variability infantile onset


Classifications:



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., 2017). (617682)

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). Affiliated tissues include skin and eye, and related phenotypes are macrocephaly and frontal bossing

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
frontal bossing

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

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 Face:
pointed chin
depressed midface

Neurologic Behavioral Psychiatric Manifestations:
autistic features
stereotypies

Skin Nails Hair Skin:
translucent skins


Clinical features from OMIM:

617682

Human phenotypes related to Pilarowski-Bjornsson Syndrome:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 frontal bossing 32 HP:0002007
3 intellectual disability 32 HP:0001249
4 seizures 32 very rare (1%) HP:0001250
5 global developmental delay 32 HP:0001263
6 immunodeficiency 32 HP:0002721
7 periorbital fullness 32 HP:0000629
8 downslanted palpebral fissures 32 HP:0000494
9 pointed chin 32 HP:0000307
10 speech apraxia 32 HP:0011098
11 broad eyebrow 32 HP:0011229

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

MalaCards organs/tissues related to Pilarowski-Bjornsson Syndrome:

41
Skin, Eye

Publications for Pilarowski-Bjornsson Syndrome

Variations for Pilarowski-Bjornsson Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 CHD1 p.Arg141Gly VAR_080265 rs106479587
2 CHD1 p.Arg460Lys VAR_080266
3 CHD1 p.Arg618Gln VAR_080267
4 CHD1 p.Arg1708Gln VAR_080268

ClinVar genetic disease variations for Pilarowski-Bjornsson Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CHD1 NM_001270.2(CHD1): c.421A> G (p.Arg141Gly) single nucleotide variant Uncertain significance rs1064795875 GRCh38 Chromosome 5, 98902916: 98902916
2 CHD1 NM_001270.2(CHD1): c.421A> G (p.Arg141Gly) single nucleotide variant Uncertain significance rs1064795875 GRCh37 Chromosome 5, 98238620: 98238620
3 CHD1 NM_001270.2(CHD1): c.1853G> A (p.Arg618Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 98229258: 98229258
4 CHD1 NM_001270.2(CHD1): c.1853G> A (p.Arg618Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 98893554: 98893554
5 CHD1 NM_001270.2(CHD1): c.5123G> A (p.Arg1708Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 98192094: 98192094
6 CHD1 NM_001270.2(CHD1): c.5123G> A (p.Arg1708Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 98856390: 98856390
7 CHD1 NM_001270.2(CHD1): c.1379G> A (p.Arg460Lys) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 98233011: 98233011
8 CHD1 NM_001270.2(CHD1): c.1379G> A (p.Arg460Lys) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 98897307: 98897307

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 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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