BANDDOS
MCID: BRN142
MIFTS: 18

Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis (BANDDOS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis

MalaCards integrated aliases for Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis:

Name: Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis 57 6
Banddos 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
highly variable phenotype
some patients may present at birth in infancy
some patients may present later in childhood as young adults


Classifications:



External Ids:

OMIM 57 618476

Summaries for Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis

OMIM : 57 Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) is an autosomal recessive disorder characterized by brain abnormalities, progressive neurologic deterioration, and sclerotic bone dysplasia similar to dysosteosclerosis (DOS). The age at onset is highly variable: some patients may present in infancy with hydrocephalus, global developmental delay, and hypotonia, whereas others may have onset of symptoms in the late teens or early twenties after normal development. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum (summary by Guo et al., 2019). (618476)

MalaCards based summary : Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis, is also known as banddos. An important gene associated with Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis is CSF1R (Colony Stimulating Factor 1 Receptor). Affiliated tissues include brain and bone.

Related Diseases for Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis

Symptoms & Phenotypes for Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Skeletal Spine:
kyphosis
platyspondyly
vertebral sclerosis
sclerotic neural arches

Muscle Soft Tissue:
hypotonia

Skeletal Limbs:
widened metaphyses
radiolucent metaphyses
undermodeling
constricted diaphyses
sclerotic diaphyses

Laboratory Abnormalities:
hypocalcemia (in some patients)

Skeletal Skull:
skull sclerosis
osteosclerosis of the facial bones

Neurologic Central Nervous System:
hydrocephalus
seizures
ataxia
spasticity
dysarthria
more
Skeletal:
osteopetrosis
dysosteosclerosis
joint restrictions

Head And Neck Eyes:
optic atrophy (in some patients)
poor vision (in some patients)

Head And Neck Face:
dysmorphic facial features (in some patients)

Chest External Features:
pectus abnormalities

Skeletal Pelvis:
pelvic bone sclerosis

Clinical features from OMIM:

618476

Drugs & Therapeutics for Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis

Search Clinical Trials , NIH Clinical Center for Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis

Genetic Tests for Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis

Anatomical Context for Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis

MalaCards organs/tissues related to Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis:

41
Brain, Bone

Publications for Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis

Articles related to Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis:

# Title Authors PMID Year
1
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia. 8 71
30982608 2019
2
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. 8 71
30982609 2019
3
Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation. 8
28383543 2017
4
Absence of colony stimulation factor-1 receptor results in loss of microglia, disrupted brain development and olfactory deficits. 8
22046273 2011
5
Osteoclast deficiency results in disorganized matrix, reduced mineralization, and abnormal osteoblast behavior in developing bone. 8
15312244 2004
6
Dysosteosclerosis: a report of three new cases and evolution of the radiological findings. 8
12161605 2002

Variations for Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis

ClinVar genetic disease variations for Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CSF1R NM_005211.3(CSF1R): c.1441C> T (p.Gln481Ter) single nucleotide variant Pathogenic rs917027829 5:149449505-149449505 5:150069942-150069942
2 CSF1R NM_005211.3(CSF1R): c.395C> T (p.Pro132Leu) single nucleotide variant Pathogenic 5:149459812-149459812 5:150080249-150080249
3 CSF1R NM_005211.3(CSF1R): c.1859-119G> A single nucleotide variant Pathogenic 5:149440654-149440654 5:150061091-150061091
4 CSF1R NM_005211.3(CSF1R): c.1969+115_1969+116del deletion Pathogenic 5:149440309-149440310 5:150060746-150060747
5 CSF1R NM_005211.3(CSF1R): c.1754-1G> C single nucleotide variant Pathogenic 5:149441159-149441159 5:150061596-150061596
6 CSF1R NM_005211.3(CSF1R): c.1929C> A (p.His643Gln) single nucleotide variant Pathogenic 5:149440465-149440465 5:150060902-150060902
7 CSF1R NM_005211.3(CSF1R): c.1879_1881del (p.Lys627del) deletion Uncertain significance rs1554101963 5:149440513-149440515 5:150060950-150060952

Expression for Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis

Search GEO for disease gene expression data for Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis.

Pathways for Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis

GO Terms for Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis

Sources for Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis

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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