MCID: BRK011
MIFTS: 25

Brooks-Wisniewski-Brown Syndrome

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Brooks-Wisniewski-Brown Syndrome

MalaCards integrated aliases for Brooks-Wisniewski-Brown Syndrome:

Name: Brooks-Wisniewski-Brown Syndrome 58 12 74
X-Linked Intellectual Disability, Brooks Type 12 60
Mental Retardation, X-Linked, Syndromic, Brooks-Wisniewski-Brown Type; Mrxsbwb 58
Mental Retardation, X-Linked, Syndromic, Brooks-Wisniewski-Brown Type 58
X-Linked Mental Retardation Brooks Type 54
Brooks Wisniewski Brown Syndrome 54
Mrxsbwb 58

Characteristics:

Orphanet epidemiological data:

60
x-linked intellectual disability, brooks type
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
x-linked recessive


HPO:

33
brooks-wisniewski-brown syndrome:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Brooks-Wisniewski-Brown Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3056Disease definitionX-linkedintellectual disability, Brooks type is a rare X-linked intellectual disability syndrome characterized by failure to thrive, speech delay, intellectual disability, muscle hypotonia, spastic diplegia, optic atrophy with myopia, and distinct facial features (including triangular face, bifrontal narrowness, deeply set eyes, low-set/cupped ears, prominent nose, short philtrum, and thin upper lip with tented morphology) that can be evident from birth. Additional manifestations reported in some patients include large joint contractures and pectus excavatum (which become more evident with age) and seizures.Visit the Orphanet disease page for more resources.

MalaCards based summary : Brooks-Wisniewski-Brown Syndrome, also known as x-linked intellectual disability, brooks type, is related to brown syndrome, and has symptoms including seizures, muscle weakness and muscle spasticity. An important gene associated with Brooks-Wisniewski-Brown Syndrome is MRXSBWB (Brooks-Wisniewski-Brown Syndrome). Affiliated tissues include eye, and related phenotypes are developmental regression and low-set ears

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by intellectual disability, distinct facial appearance and growth retardation that has material basis in variation on the X chromosome.

Description from OMIM: 300612

Related Diseases for Brooks-Wisniewski-Brown Syndrome

Diseases related to Brooks-Wisniewski-Brown Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brown syndrome 10.6

Symptoms & Phenotypes for Brooks-Wisniewski-Brown Syndrome

Human phenotypes related to Brooks-Wisniewski-Brown Syndrome:

33 (show all 39)
# Description HPO Frequency HPO Source Accession
1 developmental regression 33 occasional (7.5%) HP:0002376
2 low-set ears 33 HP:0000369
3 pectus excavatum 33 HP:0000767
4 agenesis of corpus callosum 33 HP:0001274
5 nystagmus 33 HP:0000639
6 seizures 33 HP:0001250
7 hyperreflexia 33 HP:0001347
8 eeg abnormality 33 HP:0002353
9 depressed nasal bridge 33 HP:0005280
10 delayed speech and language development 33 HP:0000750
11 microcephaly 33 HP:0000252
12 optic atrophy 33 HP:0000648
13 short stature 33 HP:0004322
14 flexion contracture 33 HP:0001371
15 decreased muscle mass 33 HP:0003199
16 intellectual disability, severe 33 HP:0010864
17 low posterior hairline 33 HP:0002162
18 myopia 33 HP:0000545
19 protruding ear 33 HP:0000411
20 increased serum lactate 33 HP:0002151
21 intellectual disability, progressive 33 HP:0006887
22 deeply set eye 33 HP:0000490
23 narrow mouth 33 HP:0000160
24 bulbous nose 33 HP:0000414
25 thin upper lip vermilion 33 HP:0000219
26 blepharophimosis 33 HP:0000581
27 triangular face 33 HP:0000325
28 tapered finger 33 HP:0001182
29 severe postnatal growth retardation 33 HP:0008850
30 hyperactivity 33 HP:0000752
31 poor coordination 33 HP:0002370
32 cerebral atrophy 33 HP:0002059
33 cupped ear 33 HP:0000378
34 spastic diplegia 33 HP:0001264
35 short palpebral fissure 33 HP:0012745
36 posteriorly rotated ears 33 HP:0000358
37 esotropia 33 HP:0000565
38 small for gestational age 33 HP:0001518
39 epicanthus inversus 33 HP:0000537

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
posteriorly rotated ears
protruding ears
cupped ears

Head And Neck Eyes:
nystagmus
optic atrophy
strabismus
myopia
blepharophimosis
more
Head And Neck Nose:
depressed nasal bridge
bulbous nose

Growth Height:
short stature

Skin Nails Hair Hair:
low posterior hairline

Head And Neck Face:
triangular face
bifrontal narrowness
malar flatness

Growth Other:
small for gestational age
generalized severe growth retardation

Skeletal:
joint contractures

Growth Weight:
decreased weight for age

Chest External Features:
pectus excavatum

Neurologic Central Nervous System:
seizures
hyperreflexia
poor coordination
cerebral atrophy
spastic diplegia
more
Head And Neck Head:
microcephaly

Muscle Soft Tissue:
decreased muscle mass
increased muscle tone
decreased muscle strength

Laboratory Abnormalities:
increased serum lactate
defect in oxidative phosphorylation

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
self-abuse

Head And Neck Mouth:
small mouth
thin upper lip

Skeletal Hands:
tapering fingers

Clinical features from OMIM:

300612

UMLS symptoms related to Brooks-Wisniewski-Brown Syndrome:


seizures, muscle weakness, muscle spasticity

Drugs & Therapeutics for Brooks-Wisniewski-Brown Syndrome

Search Clinical Trials , NIH Clinical Center for Brooks-Wisniewski-Brown Syndrome

Genetic Tests for Brooks-Wisniewski-Brown Syndrome

Anatomical Context for Brooks-Wisniewski-Brown Syndrome

MalaCards organs/tissues related to Brooks-Wisniewski-Brown Syndrome:

42
Eye

Publications for Brooks-Wisniewski-Brown Syndrome

Articles related to Brooks-Wisniewski-Brown Syndrome:

# Title Authors Year
1
Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome. ( 16477654 )
2006
2
X-linked mental retardation syndrome: three brothers with the Brooks-Wisniewski-Brown syndrome. ( 8826449 )
1996

Variations for Brooks-Wisniewski-Brown Syndrome

Expression for Brooks-Wisniewski-Brown Syndrome

Search GEO for disease gene expression data for Brooks-Wisniewski-Brown Syndrome.

Pathways for Brooks-Wisniewski-Brown Syndrome

GO Terms for Brooks-Wisniewski-Brown Syndrome

Sources for Brooks-Wisniewski-Brown Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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