Chromosome 2q37 Deletion Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

BDMR MCID: CHR543 MIFTS: 35	Chromosome 2q37 Deletion Syndrome (BDMR) Categories: Bone diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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 phenotypic variability

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Neuronal diseases Bone diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

Monosomies and deletions from the autosomes, not elsewhere classified

Other deletions of part of a chromosome

Orphanet: ⁶⁰

Rare neurological diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 600430

KEGG ³⁸ H00561

MeSH ⁴⁵ D008607 D059327

MESH via Orphanet ⁴⁶ C538317

ICD10 via Orphanet ³⁵ Q93.5

UMLS via Orphanet ⁷⁵ C2931817

Orphanet ⁶⁰ ORPHA1001

MedGen ⁴³ C1838126 C2931817

SNOMED-CT via HPO ⁷⁰ 102594003 12479006 124975008 more

UMLS ⁷⁴ C2931817

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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.

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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
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	brachydactyly	10.2
5	albright's hereditary osteodystrophy	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:

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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

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Drugs & Therapeutics for Chromosome 2q37 Deletion Syndrome

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

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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

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Anatomical Context for Chromosome 2q37 Deletion Syndrome

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

⁴²

Heart, Eye, Kidney, Bone

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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 )	Arefzadeh A...Parvar P	2018
2	Brachydactyly Mental Retardation Syndrome Diagnosed in Adulthood. ( 30357083 )	Mahendhar R...Sachmechi I	2018
3	Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. ( 23188045 )	Villavicencio-Lorini P....Horn D.	2013
4	Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism. ( 23645122 )	HacA+hamdioA9lu B....Yesilkaya E.	2013
5	Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2. ( 22821680 )	Tammachote R....Shotelersuk V.	2012
6	Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome. ( 22753018 )	Morris B....Elsea S.H.	2012
7	Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. ( 20691407 )	Williams S.R....Elsea S.H.	2010

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Genes for Chromosome 2q37 Deletion Syndrome

Genes related to Chromosome 2q37 Deletion Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HDAC4	Histone Deacetylase 4	Protein Coding	625	Structural variation ⁵⁸ Genetic Tests ³⁰ Role in the phenotype ⁶⁰

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Variations for Chromosome 2q37 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 2q37 Deletion Syndrome:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	HDAC4	HDAC4, 65-BP DEL, NT490+56	deletion	Uncertain significance
2	HDAC4	HDAC4, 1-BP INS, 2399C	insertion	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

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

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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²⁴ GeneHancer via GeneCards

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⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Chromosome 2q37 Deletion Syndrome (BDMR)

Aliases & Classifications for Chromosome 2q37 Deletion Syndrome

MalaCards integrated aliases for Chromosome 2q37 Deletion Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Chromosome 2q37 Deletion Syndrome

Related Diseases for Chromosome 2q37 Deletion Syndrome

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

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

Symptoms & Phenotypes for Chromosome 2q37 Deletion Syndrome

Human phenotypes related to Chromosome 2q37 Deletion Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Chromosome 2q37 Deletion Syndrome

Genetic Tests for Chromosome 2q37 Deletion Syndrome

Genetic tests related to Chromosome 2q37 Deletion Syndrome:

Anatomical Context for Chromosome 2q37 Deletion Syndrome

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

Publications for Chromosome 2q37 Deletion Syndrome

Articles related to Chromosome 2q37 Deletion Syndrome:

Genes for Chromosome 2q37 Deletion Syndrome

Genes related to Chromosome 2q37 Deletion Syndrome (1 elite genes):

Variations for Chromosome 2q37 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 2q37 Deletion Syndrome:

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

Expression for Chromosome 2q37 Deletion Syndrome

Pathways for Chromosome 2q37 Deletion Syndrome

GO Terms for Chromosome 2q37 Deletion Syndrome

Sources for Chromosome 2q37 Deletion Syndrome