BDMR
MCID: CHR543
MIFTS: 44

Chromosome 2q37 Deletion Syndrome (BDMR)

Categories: Bone diseases, Fetal diseases, Genetic 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 57 12 20 43 73 29 6 44 15 71
Albright Hereditary Osteodystrophy-Like Syndrome 57 12 20 43 58 73
Brachydactyly-Mental Retardation Syndrome 57 43 73 36 13
Brachydactyly-Intellectual Disability Syndrome 12 20 58
2q37 Microdeletion Syndrome 12 43 58
Deletion 2q37 12 43 58
Bdmr 57 12 73
Albright Hereditary Osteodystrophy Type 3 12 58
2q37 Deletion Syndrome 20 43
Monosomy 2q37qter 12 58
Del(2)(q37) 12 58
Albright's Hereditary Osteodystrophy-Like Syndrome 12
Brachydactyly-Mental Retardation Syndrome; Bdmr 57
Deletion Syndrome, Chromosome 2q37 39
Monosomy 2q37 43

Characteristics:

Orphanet epidemiological data:

58
2q37 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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


HPO:

31
chromosome 2q37 deletion syndrome:
Inheritance autosomal dominant inheritance somatic mutation
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Chromosome 2q37 Deletion Syndrome

MedlinePlus Genetics : 43 2q37 deletion syndrome is a condition that can affect many parts of the body. Most babies with 2q37 deletion syndrome are born with weak muscle tone (hypotonia), which usually improves with age. Other neurological abnormalities that are common in affected individuals include mild to severe intellectual disability; delayed development of motor skills, such as sitting and walking; and behavioral problems. About 25 percent of people with this condition have autism spectrum disorder, a developmental condition that affects communication and social interaction.Unusual physical features are also common in people with 2q37 deletion syndrome. About half of affected individuals have unusually short fingers and toes (brachydactyly), often with abnormally short fourth toes that may overlap the other toes. Additional features of this condition may include short stature, obesity, or sparse hair. Many people with 2q37 deletion syndrome have characteristic facial features that can include a prominent forehead, a low frontal hairline, thin eyelids, skin folds covering the inner corner of the eyes (epicanthal folds), outside corners of the eyes that point upward (upslanting palpebral fissures), a small nose, a small mouth with thin lips, a smooth space between the upper lip and nose (smooth philtrum), prominent cheekbones, a large chin, and minor ear abnormalities.Other features of 2q37 deletion syndrome can include seizures and an inflammatory skin disorder called eczema. Some affected individuals have malformations of the brain, heart, gastrointestinal system, kidneys, or genitalia. A few people with 2q37 deletion syndrome develop a rare form of kidney cancer called Wilms tumor.

MalaCards based summary : Chromosome 2q37 Deletion Syndrome, also known as albright hereditary osteodystrophy-like syndrome, is related to brachydactyly and pseudopseudohypoparathyroidism. An important gene associated with Chromosome 2q37 Deletion Syndrome is HDAC4 (Histone Deacetylase 4). Affiliated tissues include eye, kidney and heart, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has material basis in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2.

GARD : 20 2q37 deletion syndrome is a chromosome disease that can affect many parts of the body. About 100 cases have been reported worldwide. This condition is characterized by short stature, weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, autistic behavior, obesity, characteristic facial features, and other physical abnormalities, such as short bones of the hand and of 3-5 fingers, and abnormal lateral curvature of the spine (scoliosis). Other findings include seizures (20%-35%), congenital heart disease, brain abnormalities (hydrocephalus, dilated ventricles), umbilical/inguinal hernia, tracheomalacia, gastrointestinal abnormalities, and kidney malformations. 2q37 deletion syndrome is caused by a deletion of the genetic material from a specific region in the long (q) arm of chromosome 2. Most cases are not inherited. Treatment depends on the symptoms and may require several specialists.

OMIM® : 57 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) (Updated 05-Mar-2021)

KEGG : 36 Brachydactyly mental retardation syndrome (BDMR), also known as Albright hereditary osteodystrophy-like syndrome, is a complex disorder characterized by brachydactyly and mental retardation including autism spectrum disorder. It has been confirmed that this disease is associated with some deletions of 2q37. Individuals with BDMR and Smith-Magenis syndrome (SMS) have very similar features. Mutation of the BDMR-causative gene HDAC4 results in reduced expression of RAI1, whose haploinsufficiency leads to SMS.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 2q37 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 2 in which... more...

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 top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 brachydactyly 30.7 STX16 PTH HDAC4 GNAS
2 pseudopseudohypoparathyroidism 30.7 STX16 STK25 PTH GNAS-AS1 GNAS
3 pseudohypoparathyroidism 30.4 STX16 PTH GNAS-AS1 GNAS
4 pseudohypoparathyroidism, type ia 30.4 STX16 PTH GNAS-AS1 GNAS
5 tracheomalacia 30.4 ZNF597 RAI1
6 thumbs, stiff, with brachydactyly type a1 and developmental delay 11.2
7 water-clear cell adenoma 10.3 PTH BOK
8 disorders of gnas inactivation 10.3 STX16 GNAS-AS1 GNAS
9 phosphorus metabolism disease 10.3 STX16 PTH GNAS
10 osteitis fibrosa 10.3 PTH GNAS
11 acrodysostosis 10.3 STX16 PTH GNAS
12 metal metabolism disorder 10.3 STX16 PTH GNAS
13 hyperphosphatemia 10.2 STX16 PTH GNAS
14 diabetes insipidus 10.2
15 hypothyroidism, congenital, nongoitrous, 1 10.2 STX16 PTH GNAS-AS1 GNAS
16 autism spectrum disorder 10.2
17 chondrodysplasia, blomstrand type 10.2 PTH GNAS
18 osseous heteroplasia, progressive 10.2 STX16 PTH GNAS-AS1 GNAS
19 brachydactyly, type e1 10.2
20 bone benign neoplasm 10.1 PTH GNAS
21 pseudohypoparathyroidism, type ib 10.1 STX16 PTH MEST GNAS-AS1 GNAS
22 chromosome 2q35 duplication syndrome 10.1
23 horseshoe kidney 10.1
24 infantile hypotonia 10.1
25 hyperoxaluria, primary, type i 10.1
26 alacrima, achalasia, and mental retardation syndrome 10.1
27 autosomal recessive disease 10.1
28 renal fibrosis 10.1
29 pyelonephritis 10.1
30 xanthogranulomatous pyelonephritis 10.1
31 primary hyperoxaluria 10.1
32 smith-magenis syndrome 10.1
33 chromosomal triplication 10.1
34 growth hormone deficiency 10.1
35 scoliosis 10.1
36 inguinal hernia 10.1
37 hydrocephalus 10.1
38 learning disability 10.1
39 hypermobile ehlers-danlos syndrome 10.1
40 ring chromosome 2 10.1
41 hypotonia 10.1
42 ring chromosome 10.1
43 ossifying fibroma 10.0 PTH GNAS
44 dilated cardiomyopathy 10.0
45 transient neonatal diabetes mellitus 10.0 WDR20 SNRPN PLAGL1 MEST GNAS-AS1 GNAS
46 choanal atresia, posterior 9.9
47 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.9
48 charge syndrome 9.9
49 autism 9.9
50 bronchiectasis 9.9

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:

58 31 (show top 50) (show all 75)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 round face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000311
4 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
5 hypotonia 31 hallmark (90%) HP:0001252
6 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
7 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
8 umbilical hernia 58 31 frequent (33%) Frequent (79-30%) HP:0001537
9 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
10 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
11 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
12 wide intermamillary distance 58 31 frequent (33%) Frequent (79-30%) HP:0006610
13 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
14 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
15 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
16 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
17 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
18 bilateral single transverse palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0007598
19 highly arched eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002553
20 deeply set eye 58 31 frequent (33%) Frequent (79-30%) HP:0000490
21 sparse scalp hair 58 31 frequent (33%) Frequent (79-30%) HP:0002209
22 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
23 eczema 58 31 frequent (33%) Frequent (79-30%) HP:0000964
24 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
25 small hand 58 31 frequent (33%) Frequent (79-30%) HP:0200055
26 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
27 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001770
28 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
29 short metacarpal 58 31 frequent (33%) Frequent (79-30%) HP:0010049
30 short foot 58 31 frequent (33%) Frequent (79-30%) HP:0001773
31 supernumerary nipple 58 31 frequent (33%) Frequent (79-30%) HP:0002558
32 short palm 58 31 frequent (33%) Frequent (79-30%) HP:0004279
33 broad columella 58 31 frequent (33%) Frequent (79-30%) HP:0010761
34 seizure 31 occasional (7.5%) HP:0001250
35 sparse and thin eyebrow 31 frequent (33%) HP:0000535
36 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
37 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
38 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
39 stereotypy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000733
40 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
41 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
42 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
43 obsessive-compulsive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000722
44 laryngomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001601
45 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776
46 pyloric stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002021
47 multicystic kidney dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000003
48 tracheomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002779
49 nephroblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002667
50 abnormal aortic morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001679

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior
aggressive behavior
hyperactivity
autistic features
repetitive behaviors

Growth Height:
short stature

Growth Weight:
obesity

Neurologic Peripheral Nervous System:
hyporeflexia
pain insensitivity

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

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

Head And Neck Head:
brachycephaly

Skin Nails Hair Skin:
eczema

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

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 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Chromosome 2q37 Deletion Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 skeleton MP:0005390 9.28 AGAP1 FARP2 GNAS HDAC4 MEST PLAGL1

Drugs & Therapeutics for Chromosome 2q37 Deletion Syndrome

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

Cochrane evidence based reviews: 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 29 HDAC4

Anatomical Context for Chromosome 2q37 Deletion Syndrome

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

40
Eye, Kidney, Heart

Publications for Chromosome 2q37 Deletion Syndrome

Articles related to Chromosome 2q37 Deletion Syndrome:

(show all 17)
# Title Authors PMID Year
1
Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. 61 57
23188045 2013
2
Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26). 61 57
12966529 2003
3
Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. 61 57
7847374 1995
4
The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature. 57
25402011 2015
5
Neuropsychological profiles of patients with 2q37.3 deletion associated with developmental dyspraxia. 57
25329715 2014
6
Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals. 57
24715439 2014
7
Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. 57
20691407 2010
8
Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay. 57
19752160 2010
9
Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype. 57
15521982 2004
10
Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes. 57
15173228 2004
11
Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals. 57
7573148 1995
12
The pattern of shortening of the bones of the hand in PHP and PPHP--A comparison with brachydactyly E, Turner Syndrome, and acrodysostosis. 57
870942 1977
13
Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. 57
188348 1977
14
Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome. 61
33537682 2021
15
The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome. 61
31990478 2019
16
2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis. 61
28690993 2017
17
FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome. 61
19365831 2009

Variations for Chromosome 2q37 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 2q37 Deletion Syndrome:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AGAP1 GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080) copy number loss Pathogenic 625779 2:237028693-242708080
2 BOK GRCh37/hg19 2q37.3(chr2:239071623-243048760) copy number loss Pathogenic 625781 2:239071623-243048760
3 ARL4C GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1 copy number loss Pathogenic 981208 2:233110452-243028452
4 BOK GRCh37/hg19 2q37.3(chr2:238795602-242918203) copy number loss Likely pathogenic 625780 2:238795602-242918203
5 HDAC4 NM_006037.3(HDAC4):c.2399dup (p.Gly801fs) Duplication Uncertain significance 5069 rs748900140 2:240009284-240009285 2:239087588-239087589
6 HDAC4 HDAC4, 65-BP DEL, NT490+56 Deletion Uncertain significance 5070
7 HDAC4 NM_006037.3(HDAC4):c.155G>A (p.Arg52His) SNV Uncertain significance 518341 rs777568201 2:240111713-240111713 2:239190017-239190017
8 HDAC4 NM_001378414.1(HDAC4):c.1387C>T (p.Gln463Ter) SNV Uncertain significance 983139 2:240048298-240048298 2:239126602-239126602
9 HDAC4 NM_006037.3(HDAC4):c.1794G>A (p.Glu598=) SNV Likely benign 281400 rs148813865 2:240033391-240033391 2:239111695-239111695
10 HDAC4 NM_006037.3(HDAC4):c.684G>A (p.Pro228=) SNV Likely benign 284218 rs144387989 2:240078397-240078397 2:239156701-239156701
11 HDAC4 NM_006037.3(HDAC4):c.2356G>A (p.Ala786Thr) SNV Likely benign 283520 rs61754648 2:240011722-240011722 2:239090026-239090026
12 HDAC4 NM_006037.3(HDAC4):c.95-98del Deletion Benign 801915 rs74761897 2:240111871-240111871 2:239190175-239190175

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

7
# CNVD ID Chromosome 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

Cellular components related to Chromosome 2q37 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 trans-Golgi network membrane GO:0032588 8.8 STX16 GNAS BOK

Biological processes related to Chromosome 2q37 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of multicellular organism growth GO:0040015 9.16 RAI1 GNAS
2 response to parathyroid hormone GO:0071107 8.96 PTH GNAS
3 skeletal system development GO:0001501 8.92 RAI1 PTH HDAC4 GNAS

Sources for Chromosome 2q37 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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