MCID: CHR399
MIFTS: 29

Chromosome 4q21 Deletion Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 4q21 Deletion Syndrome

MalaCards integrated aliases for Chromosome 4q21 Deletion Syndrome:

Name: Chromosome 4q21 Deletion Syndrome 56 12 29 13 6 15 71
4q21 Microdeletion Syndrome 12 58
Monosomy 4q21 12 58
Del(4)(q21) 58

Characteristics:

Orphanet epidemiological data:

58
4q21 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
isolated cases

Miscellaneous:
contiguous gene deletion syndrome


HPO:

31
chromosome 4q21 deletion syndrome:
Inheritance sporadic


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Chromosome 4q21 Deletion Syndrome

Disease Ontology : 12 A chromosomal deletion syndrome that has material basis in deletion of the chromosome 4q21 region.

MalaCards based summary : Chromosome 4q21 Deletion Syndrome, also known as 4q21 microdeletion syndrome, is related to alacrima, achalasia, and mental retardation syndrome and hypotonia. An important gene associated with Chromosome 4q21 Deletion Syndrome is DEL4Q21 (Chromosome 4q21 Deletion Syndrome). Affiliated tissues include colon, and related phenotypes are muscular hypotonia and delayed speech and language development

More information from OMIM: 613509

Related Diseases for Chromosome 4q21 Deletion Syndrome

Diseases related to Chromosome 4q21 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.3
2 hypotonia 10.3
3 hypertelorism 10.1
4 47,xyy 10.1
5 malignant hemangioma 9.1 TMEM150C RASGEF1B LINC00575 ENOPH1

Graphical network of the top 20 diseases related to Chromosome 4q21 Deletion Syndrome:



Diseases related to Chromosome 4q21 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 4q21 Deletion Syndrome

Human phenotypes related to Chromosome 4q21 Deletion Syndrome:

58 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
2 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
3 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
4 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
5 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
6 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
7 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
8 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
9 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
10 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
11 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
12 broad forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000337
13 micromelia 58 31 frequent (33%) Frequent (79-30%) HP:0002983
14 small hand 58 31 frequent (33%) Frequent (79-30%) HP:0200055
15 short foot 58 31 frequent (33%) Frequent (79-30%) HP:0001773
16 short palm 58 31 frequent (33%) Frequent (79-30%) HP:0004279
17 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
18 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
19 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
20 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000164
21 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
22 stereotypy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000733
23 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
24 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
25 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
26 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
27 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
28 downturned corners of mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0002714
29 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
30 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
31 generalized hirsutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002230
32 high forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000348
33 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
34 large fontanelles 58 31 occasional (7.5%) Occasional (29-5%) HP:0000239
35 thin vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0000233
36 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001770
37 synophrys 58 31 occasional (7.5%) Occasional (29-5%) HP:0000664
38 cerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001321
39 long eyelashes 58 31 occasional (7.5%) Occasional (29-5%) HP:0000527
40 seizure 31 occasional (7.5%) HP:0001250
41 global developmental delay 58 31 Very frequent (99-80%) HP:0001263
42 seizures 58 Occasional (29-5%)
43 growth delay 58 Very frequent (99-80%)
44 postnatal growth retardation 31 HP:0008897
45 generalized hypotonia 31 HP:0001290
46 cerebral hypoplasia 31 HP:0006872
47 psychomotor retardation 31 HP:0025356

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism

Head And Neck Mouth:
downturned corners of mouth

Muscle Soft Tissue:
hypotonia

Head And Neck Head:
frontal bossing
short philtrum
broad forehead

Neurologic Central Nervous System:
cerebral hypoplasia
psychomotor retardation, severe
ventricular dilation
speech absent or delayed
cerebellar anomalies

Growth Other:
postnatal growth retardation, severe

Clinical features from OMIM:

613509

Drugs & Therapeutics for Chromosome 4q21 Deletion Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosome 4q21 Deletion Syndrome

Genetic Tests for Chromosome 4q21 Deletion Syndrome

Genetic tests related to Chromosome 4q21 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 4q21 Deletion Syndrome 29

Anatomical Context for Chromosome 4q21 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 4q21 Deletion Syndrome:

40
Colon

Publications for Chromosome 4q21 Deletion Syndrome

Articles related to Chromosome 4q21 Deletion Syndrome:

# Title Authors PMID Year
1
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech. 56
20522426 2010
2
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. 56
16909388 2006
3
A 4q21-q22 deletion in a girl with severe growth retardation. 56
12000367 2002
4
Further defining the critical genes for the 4q21 microdeletion disorder. 61
27604828 2017
5
A de novo microtriplication at 4q21.21-q21.22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of speech. 61
27288323 2016
6
Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome. 61
25774221 2015
7
Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome. 61
22903878 2012

Variations for Chromosome 4q21 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 4q21 Deletion Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 covers 18 genes, none of which curated to show dosage sensitivity deletion Pathogenic 830313 4:83196931-85540706

Expression for Chromosome 4q21 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 4q21 Deletion Syndrome.

Pathways for Chromosome 4q21 Deletion Syndrome

GO Terms for Chromosome 4q21 Deletion Syndrome

Biological processes related to Chromosome 4q21 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of RNA metabolic process GO:0051252 8.62 HNRNPDL HNRNPD

Molecular functions related to Chromosome 4q21 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific double-stranded DNA binding GO:1990837 8.62 HNRNPDL HNRNPD

Sources for Chromosome 4q21 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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