BANDDOS
MCID: BRN142
MIFTS: 24

Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis (BANDDOS)

Categories: Bone diseases, 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 56 73 6 17
Banddos 56 73

Characteristics:

OMIM:

56
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


HPO:

31
brain abnormalities, neurodegeneration, and dysosteosclerosis:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



Summaries for Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis

OMIM : 56 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, and related phenotypes are global developmental delay and abnormal facial shape

UniProtKB/Swiss-Prot : 73 Brain abnormalities, neurodegeneration, and dysosteosclerosis: An autosomal recessive disease with variable manifestations. Main features are brain malformations with calcifying leukoencephalopathy, progressive neurodegeneration, and bone sclerotic features. The age at onset ranges from infancy to early adulthood. 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.

Related Diseases for Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis

Symptoms & Phenotypes for Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis

Human phenotypes related to Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 abnormal facial shape 31 very rare (1%) HP:0001999
3 visual impairment 31 very rare (1%) HP:0000505
4 optic atrophy 31 very rare (1%) HP:0000648
5 hypocalcemia 31 very rare (1%) HP:0002901
6 kyphosis 31 HP:0002808
7 macrocephaly 31 HP:0000256
8 hydrocephalus 31 HP:0000238
9 spastic tetraplegia 31 HP:0002510
10 ataxia 31 HP:0001251
11 hyperreflexia 31 HP:0001347
12 dysarthria 31 HP:0001260
13 platyspondyly 31 HP:0000926
14 ventriculomegaly 31 HP:0002119
15 agenesis of corpus callosum 31 HP:0001274
16 mental deterioration 31 HP:0001268
17 cerebellar hypoplasia 31 HP:0001321
18 rigidity 31 HP:0002063
19 osteopetrosis 31 HP:0011002
20 generalized hypotonia 31 HP:0001290
21 abnormality of the periventricular white matter 31 HP:0002518
22 poor speech 31 HP:0002465
23 mutism 31 HP:0002300
24 metaphyseal widening 31 HP:0003016
25 periventricular heterotopia 31 HP:0007165
26 neurodegeneration 31 HP:0002180
27 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
kyphosis
platyspondyly
vertebral sclerosis
sclerotic neural arches

Neurologic Central Nervous System:
seizures
hydrocephalus
spasticity
ataxia
hyperreflexia
more
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

Head And Neck Head:
macrocephaly

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:

40
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. 56 6
30982608 2019
2
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. 56 6
30982609 2019
3
Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation. 56
28383543 2017
4
Absence of colony stimulation factor-1 receptor results in loss of microglia, disrupted brain development and olfactory deficits. 56
22046273 2011
5
Osteoclast deficiency results in disorganized matrix, reduced mineralization, and abnormal osteoblast behavior in developing bone. 56
15312244 2004
6
Dysosteosclerosis: a report of three new cases and evolution of the radiological findings. 56
12161605 2002

Variations for Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CSF1R NM_005211.3(CSF1R):c.1441C>T (p.Gln481Ter)SNV Pathogenic 520697 rs917027829 5:149449505-149449505 5:150069942-150069942
2 CSF1R NM_005211.3(CSF1R):c.395C>T (p.Pro132Leu)SNV Pathogenic 635119 rs1351319114 5:149459812-149459812 5:150080249-150080249
3 CSF1R NM_005211.3(CSF1R):c.1859-119G>ASNV Pathogenic 635121 rs1561912628 5:149440654-149440654 5:150061091-150061091
4 CSF1R NM_005211.3(CSF1R):c.1969+115_1969+116deldeletion Pathogenic 635123 5:149440309-149440310 5:150060746-150060747
5 CSF1R NM_005211.3(CSF1R):c.1754-1G>CSNV Pathogenic 635124 rs1561913526 5:149441159-149441159 5:150061596-150061596
6 CSF1R NM_005211.3(CSF1R):c.1929C>A (p.His643Gln)SNV Pathogenic 635125 rs184499252 5:149440465-149440465 5:150060902-150060902
7 CSF1R NM_005211.3(CSF1R):c.1879_1881del (p.Lys627del)deletion Uncertain significance 452495 rs1554101963 5:149440513-149440515 5:150060950-150060952

UniProtKB/Swiss-Prot genetic disease variations for Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis:

73
# Symbol AA change Variation ID SNP ID
1 CSF1R p.Pro132Leu VAR_083140 rs135131911
2 CSF1R p.His643Gln VAR_083143 rs184499252

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
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17 EFO
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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