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MCID: CHR543
MIFTS: 34

Chromosome 2q37 Deletion Syndrome

Categories: Neuronal diseases, Bone diseases, Fetal diseases, Rare diseases, Mental diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Chromosome 2q37 Deletion Syndrome

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MalaCards integrated aliases for Chromosome 2q37 Deletion Syndrome:

Name: Chromosome 2q37 Deletion Syndrome 57 75 29 73
Brachydactyly-Mental Retardation Syndrome 57 75 37 29 13 6
Albright Hereditary Osteodystrophy-Like Syndrome 57 59 75
Bdmr 57 75
Brachydactyly-Mental Retardation Syndrome; Bdmr 57
Brachydactyly-Intellectual Disability Syndrome 59
Albright Hereditary Osteodystrophy Type 3 59
Deletion Syndrome, Chromosome 2q37 ) 40
2q37 Microdeletion Syndrome 59
Deletion 2q37-Qter 59
Monosomy 2q37-Qter 59
Deletion 2q37 59
Del(2)(q37) 59

Characteristics:

Orphanet epidemiological data:

59
2q37 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
chromosome 2q37 deletion syndrome:
Inheritance somatic mutation autosomal dominant inheritance
Onset and clinical course congenital onset phenotypic variability


Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Neuronal diseases Bone diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Chromosome 2q37 Deletion Syndrome

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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)

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 macrocephaly and short neck

UniProtKB/Swiss-Prot : 75 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.

Sources

Related Diseases for Chromosome 2q37 Deletion Syndrome

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

# Related Disease Score Top Affiliating Genes
1 2q37 deletion syndrome 11.3
2 thumbs, stiff, with brachydactyly type a1 and developmental delay 11.1
3 charge syndrome 9.8
4 choanal atresia, posterior 9.8
5 bronchiectasis 9.8

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



Diseases related to Chromosome 2q37 Deletion Syndrome
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Symptoms & Phenotypes for Chromosome 2q37 Deletion Syndrome

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Symptoms via clinical synopsis from OMIM:

57
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
midface hypoplasia
broad face
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

Human phenotypes related to Chromosome 2q37 Deletion Syndrome:

59 32 (show top 50) (show all 71)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 short neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000470
3 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
4 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
5 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
6 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
7 seizures 59 32 occasional (7.5%) Frequent (79-30%) HP:0001250
8 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
9 sleep disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0002360
10 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
11 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
12 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
13 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
14 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
15 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
16 stereotypy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000733
17 laryngomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001601
18 short palm 59 32 frequent (33%) Frequent (79-30%) HP:0004279
19 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
20 short foot 59 32 frequent (33%) Frequent (79-30%) HP:0001773
21 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
22 attention deficit hyperactivity disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007018
23 wide intermamillary distance 59 32 frequent (33%) Frequent (79-30%) HP:0006610
24 underdeveloped nasal alae 59 32 frequent (33%) Frequent (79-30%) HP:0000430
25 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
26 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
27 small hand 59 32 frequent (33%) Frequent (79-30%) HP:0200055
28 multicystic kidney dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000003
29 conductive hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000405
30 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
31 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
32 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
33 bilateral single transverse palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0007598
34 round face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000311
35 obsessive-compulsive behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000722
36 sparse scalp hair 59 32 frequent (33%) Frequent (79-30%) HP:0002209
37 eczema 59 32 frequent (33%) Frequent (79-30%) HP:0000964
38 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
39 highly arched eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0002553
40 pyloric stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002021
41 thin vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0000233
42 tracheomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002779
43 toe syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001770
44 short metacarpal 59 32 frequent (33%) Frequent (79-30%) HP:0010049
45 nephroblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002667
46 congenital diaphragmatic hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000776
47 abnormal aortic morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001679
48 supernumerary nipple 59 32 frequent (33%) Frequent (79-30%) HP:0002558
49 broad columella 59 32 frequent (33%) Frequent (79-30%) HP:0010761
50 malar flattening 32 HP:0000272
Sources

Drugs & Therapeutics for Chromosome 2q37 Deletion Syndrome

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

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Genetic Tests for Chromosome 2q37 Deletion Syndrome

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Genetic tests related to Chromosome 2q37 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 2q37 Deletion Syndrome 29 HDAC4
2 Brachydactyly-Mental Retardation Syndrome 29 HDAC4
Sources

Anatomical Context for Chromosome 2q37 Deletion Syndrome

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

41
Heart, Eye, Kidney, Bone
Sources

Publications for Chromosome 2q37 Deletion Syndrome

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Articles related to Chromosome 2q37 Deletion Syndrome:

# Title Authors Year
1
Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. ( 23188045 )
2013
2
Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism. ( 23645122 )
2013
3
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
4
Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome. ( 22753018 )
2012
5
Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. ( 20691407 )
2010
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Variations for Chromosome 2q37 Deletion Syndrome

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ClinVar genetic disease variations for Chromosome 2q37 Deletion Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HDAC4 NM_006037.3(HDAC4): c.1794G> A (p.Glu598=) single nucleotide variant Benign rs148813865 GRCh37 Chromosome 2, 240033391: 240033391
2 HDAC4 NM_006037.3(HDAC4): c.1794G> A (p.Glu598=) single nucleotide variant Benign rs148813865 GRCh38 Chromosome 2, 239111695: 239111695
3 HDAC4 NM_006037.3(HDAC4): c.684G> A (p.Pro228=) single nucleotide variant Benign rs144387989 GRCh37 Chromosome 2, 240078397: 240078397
4 HDAC4 NM_006037.3(HDAC4): c.684G> A (p.Pro228=) single nucleotide variant Benign rs144387989 GRCh38 Chromosome 2, 239156701: 239156701
5 HDAC4 NM_006037.3(HDAC4): c.155G> A (p.Arg52His) single nucleotide variant Uncertain significance rs777568201 GRCh38 Chromosome 2, 239190017: 239190017
6 HDAC4 NM_006037.3(HDAC4): c.155G> A (p.Arg52His) single nucleotide variant Uncertain significance rs777568201 GRCh37 Chromosome 2, 240111713: 240111713

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
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Expression for Chromosome 2q37 Deletion Syndrome

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

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GO Terms for Chromosome 2q37 Deletion Syndrome

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Sources for Chromosome 2q37 Deletion Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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