BDMR
MCID: CHR543
MIFTS: 34

Chromosome 2q37 Deletion Syndrome (BDMR)

Categories: Bone diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chromosome 2q37 Deletion Syndrome

MalaCards integrated aliases for Chromosome 2q37 Deletion Syndrome:

Name: Chromosome 2q37 Deletion Syndrome 58 76 30 74
Brachydactyly-Mental Retardation Syndrome 58 76 38 30 13 6
Albright Hereditary Osteodystrophy-Like Syndrome 58 60 76
Bdmr 58 76
Brachydactyly-Mental Retardation Syndrome; Bdmr 58
Brachydactyly-Intellectual Disability Syndrome 60
Albright Hereditary Osteodystrophy Type 3 60
Deletion Syndrome, Chromosome 2q37 ) 41
2q37 Microdeletion Syndrome 60
Monosomy 2q37qter 60
Deletion 2q37 60
Del(2)(q37) 60

Characteristics:

Orphanet epidemiological data:

60
2q37 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
onset at birth
phenotypic overlap with albright hereditary osteodystrophy (aho, ) and smith-magenis syndrome (sms, )


HPO:

33
chromosome 2q37 deletion syndrome:
Inheritance somatic mutation autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Chromosome 2q37 Deletion Syndrome

OMIM : 58 Patients with chromosome 2q37 deletion syndrome show highly variable clinical manifestations likely resulting from different deletion sizes and deletions of different genes. Variable clinical features included brachydactyly type E (BDE), affecting the metacarpals and metatarsals (in about 50% of patients), short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features. However, many individuals with deletions do not show cognitive deficits (summary by Villavicencio-Lorini et al., 2013, Wheeler et al., 2014, Jean-Marcais et al., 2015). (600430)

MalaCards based summary : Chromosome 2q37 Deletion Syndrome, also known as brachydactyly-mental retardation syndrome, is related to 2q37 deletion syndrome and thumbs, stiff, with brachydactyly type a1 and developmental delay. An important gene associated with Chromosome 2q37 Deletion Syndrome is HDAC4 (Histone Deacetylase 4). Affiliated tissues include heart, eye and kidney, and related phenotypes are intellectual disability and muscular hypotonia

UniProtKB/Swiss-Prot : 76 Brachydactyly-mental retardation syndrome: A syndrome resembling the physical anomalies found in Albright hereditary osteodystrophy. Common features are mild facial dysmorphism, congenital heart defects, distinct brachydactyly type E, mental retardation, developmental delay, seizures, autism spectrum disorder, and stocky build. Soft tissue ossification is absent, and there are no abnormalities in parathyroid hormone or calcium metabolism.

Related Diseases for Chromosome 2q37 Deletion Syndrome

Diseases related to Chromosome 2q37 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 2q37 deletion syndrome 11.6
2 thumbs, stiff, with brachydactyly type a1 and developmental delay 11.3
3 xp22.3 microdeletion syndrome 10.4
4 albright's hereditary osteodystrophy 10.4
5 brachydactyly 10.2
6 brachydactyly, type e1 10.1
7 pseudopseudohypoparathyroidism 10.1
8 primary hyperoxaluria 10.1
9 growth hormone deficiency 10.1
10 charge syndrome 10.0
11 choanal atresia, posterior 10.0
12 bronchiectasis 10.0

Graphical network of the top 20 diseases related to Chromosome 2q37 Deletion Syndrome:



Diseases related to Chromosome 2q37 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 2q37 Deletion Syndrome

Human phenotypes related to Chromosome 2q37 Deletion Syndrome:

60 33 (show top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
4 round face 60 33 hallmark (90%) Very frequent (99-80%) HP:0000311
5 midface retrusion 60 33 hallmark (90%) Very frequent (99-80%) HP:0011800
6 obesity 60 33 frequent (33%) Frequent (79-30%) HP:0001513
7 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
8 finger syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0006101
9 seizures 60 33 occasional (7.5%) Frequent (79-30%) HP:0001250
10 depressed nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0005280
11 umbilical hernia 60 33 frequent (33%) Frequent (79-30%) HP:0001537
12 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
13 anteverted nares 60 33 frequent (33%) Frequent (79-30%) HP:0000463
14 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
15 short palm 60 33 frequent (33%) Frequent (79-30%) HP:0004279
16 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
17 short foot 60 33 frequent (33%) Frequent (79-30%) HP:0001773
18 wide intermamillary distance 60 33 frequent (33%) Frequent (79-30%) HP:0006610
19 underdeveloped nasal alae 60 33 frequent (33%) Frequent (79-30%) HP:0000430
20 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
21 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
22 small hand 60 33 frequent (33%) Frequent (79-30%) HP:0200055
23 upslanted palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0000582
24 brachydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001156
25 downturned corners of mouth 60 33 frequent (33%) Frequent (79-30%) HP:0002714
26 bilateral single transverse palmar creases 60 33 frequent (33%) Frequent (79-30%) HP:0007598
27 sparse scalp hair 60 33 frequent (33%) Frequent (79-30%) HP:0002209
28 eczema 60 33 frequent (33%) Frequent (79-30%) HP:0000964
29 highly arched eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0002553
30 thin vermilion border 60 33 frequent (33%) Frequent (79-30%) HP:0000233
31 toe syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001770
32 short metacarpal 60 33 frequent (33%) Frequent (79-30%) HP:0010049
33 supernumerary nipple 60 33 frequent (33%) Frequent (79-30%) HP:0002558
34 broad columella 60 33 frequent (33%) Frequent (79-30%) HP:0010761
35 sparse and thin eyebrow 33 frequent (33%) HP:0000535
36 macrocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000256
37 short neck 60 33 occasional (7.5%) Occasional (29-5%) HP:0000470
38 sleep disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0002360
39 stereotypy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000733
40 laryngomalacia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001601
41 autism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000717
42 attention deficit hyperactivity disorder 60 33 occasional (7.5%) Occasional (29-5%) HP:0007018
43 multicystic kidney dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000003
44 conductive hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000405
45 obsessive-compulsive behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0000722
46 pyloric stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002021
47 tracheomalacia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002779
48 nephroblastoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002667
49 congenital diaphragmatic hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000776
50 abnormal aortic morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0001679

Symptoms via clinical synopsis from OMIM:

58
Growth Weight:
obesity

Head And Neck Nose:
depressed nasal bridge
broad nose
upturned nose

Head And Neck Head:
brachycephaly

Skin Nails Hair Skin:
eczema

Head And Neck Eyes:
high-arched eyebrows
deep-set eyes
narrow palpebral fissures
upslanting palpebral fissure

Head And Neck Ears:
sensorineural hearing loss (1 patient)

Cardiovascular Heart:
subvalvular aortic stenosis (1 patient)
arrhythmias (1 patient)

Skeletal Hands:
shortened metacarpals
shortened phalanges

Laboratory Abnormalities:
normal g(s)-alpha levels

Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior
aggressive behavior
hyperactivity
autistic features
repetitive behaviors

Growth Height:
short stature

Head And Neck Face:
round face
broad face
midface hypoplasia
coarse facial appearance

Neurologic Peripheral Nervous System:
hyporeflexia
pain insensitivity

Neurologic Central Nervous System:
mental retardation (in some patients)
developmental delay (in some patients)
seizures (1 patient)
sleeping disturbances (in some patients)
motor dyspraxia (in some patients)

Head And Neck Mouth:
full everted lips

Skeletal:
brachydactyly type e (in about 50% of patients)

Skeletal Feet:
shortened phalanges
shortened metatarsals
proximally placed fourth toe

Clinical features from OMIM:

600430

Drugs & Therapeutics for Chromosome 2q37 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 2q37 Deletion Syndrome

Genetic Tests for Chromosome 2q37 Deletion Syndrome

Genetic tests related to Chromosome 2q37 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 2q37 Deletion Syndrome 30 HDAC4
2 Brachydactyly-Mental Retardation Syndrome 30

Anatomical Context for Chromosome 2q37 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 2q37 Deletion Syndrome:

42
Heart, Eye, Kidney, Bone

Publications for Chromosome 2q37 Deletion Syndrome

Articles related to Chromosome 2q37 Deletion Syndrome:

# Title Authors Year
1
Brachydactyly mental retardation syndrome with growth hormone deficiency. ( 30087780 )
2018
2
Brachydactyly Mental Retardation Syndrome Diagnosed in Adulthood. ( 30357083 )
2018
3
Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals. ( 24715439 )
2014
4
Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. ( 23188045 )
2013
5
Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism. ( 23645122 )
2013
6
Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome. ( 22753018 )
2012
7
Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2. ( 22821680 )
2012
8
Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. ( 20691407 )
2010

Variations for Chromosome 2q37 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 2q37 Deletion Syndrome:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 HDAC4 HDAC4, 1-BP INS, 2399C insertion Uncertain significance
2 HDAC4 HDAC4, 65-BP DEL, NT490+56 deletion Uncertain significance
3 HDAC4 NM_006037.3(HDAC4): c.1794G> A (p.Glu598=) single nucleotide variant Benign rs148813865 GRCh37 Chromosome 2, 240033391: 240033391
4 HDAC4 NM_006037.3(HDAC4): c.1794G> A (p.Glu598=) single nucleotide variant Benign rs148813865 GRCh38 Chromosome 2, 239111695: 239111695
5 HDAC4 NM_006037.3(HDAC4): c.684G> A (p.Pro228=) single nucleotide variant Benign rs144387989 GRCh37 Chromosome 2, 240078397: 240078397
6 HDAC4 NM_006037.3(HDAC4): c.684G> A (p.Pro228=) single nucleotide variant Benign rs144387989 GRCh38 Chromosome 2, 239156701: 239156701
7 HDAC4 NM_006037.3(HDAC4): c.155G> A (p.Arg52His) single nucleotide variant Uncertain significance rs777568201 GRCh38 Chromosome 2, 239190017: 239190017
8 HDAC4 NM_006037.3(HDAC4): c.155G> A (p.Arg52His) single nucleotide variant Uncertain significance rs777568201 GRCh37 Chromosome 2, 240111713: 240111713
9 subset of 59 genes:HDAC4 GRCh37/hg19 2q37.2-37.3(chr2: 237028693-242708080) copy number loss Pathogenic GRCh37 Chromosome 2, 237028693: 242708080
10 subset of 51 genes:HDAC4 GRCh37/hg19 2q37.3(chr2: 238795602-242918203) copy number loss Likely pathogenic GRCh37 Chromosome 2, 238795602: 242918203
11 subset of 46 genes:HDAC4 GRCh37/hg19 2q37.3(chr2: 239071623-243048760) copy number loss Pathogenic GRCh37 Chromosome 2, 239071623: 243048760

Copy number variations for Chromosome 2q37 Deletion Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 142829 2 230700000 242951149 Microdeletion Brachydactyly-Mental Retardation Syndrome

Expression for Chromosome 2q37 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 2q37 Deletion Syndrome.

Pathways for Chromosome 2q37 Deletion Syndrome

GO Terms for Chromosome 2q37 Deletion Syndrome

Sources for Chromosome 2q37 Deletion Syndrome

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