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MCID: CHR399
MIFTS: 28

Chromosome 4q21 Deletion Syndrome

Categories: Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Chromosome 4q21 Deletion Syndrome

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MalaCards integrated aliases for Chromosome 4q21 Deletion Syndrome:

Name: Chromosome 4q21 Deletion Syndrome 57 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®:

57 (Updated 05-Mar-2021)
Inheritance:
isolated cases

Miscellaneous:
contiguous gene deletion syndrome


HPO:

31
chromosome 4q21 deletion syndrome:
Inheritance sporadic


Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Developmental anomalies during embryogenesis


Sources

Summaries for Chromosome 4q21 Deletion Syndrome

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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 delayed speech and language development and intellectual disability, severe

More information from OMIM: 613509
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Related Diseases for Chromosome 4q21 Deletion Syndrome

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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 10.2
2 hypotonia 10.2
3 hypertelorism 10.1
4 malignant hemangioma 9.5 TMEM150C RASGEF1B LINC00575 ENOPH1

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Symptoms & Phenotypes for Chromosome 4q21 Deletion Syndrome

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Human phenotypes related to Chromosome 4q21 Deletion Syndrome:

58 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
2 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
3 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
4 hypotonia 31 hallmark (90%) HP:0001252
5 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
6 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
7 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
8 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
9 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
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 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
18 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
19 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
20 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
21 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
22 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
23 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
24 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
25 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000164
26 stereotypy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000733
27 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
28 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
29 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
30 downturned corners of mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0002714
31 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
32 generalized hirsutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002230
33 high forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000348
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 muscular hypotonia 58 Very frequent (99-80%)
44 growth delay 58 Very frequent (99-80%)
45 postnatal growth retardation 31 HP:0008897
46 psychomotor retardation 31 HP:0025356
47 generalized hypotonia 31 HP:0001290
48 cerebral hypoplasia 31 HP:0006872

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Head:
frontal bossing
short philtrum
broad forehead

Head And Neck Mouth:
downturned corners of mouth

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
hypertelorism

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 (Updated 05-Mar-2021)

Sources

Drugs & Therapeutics for Chromosome 4q21 Deletion Syndrome

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

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Genetic Tests for Chromosome 4q21 Deletion Syndrome

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Genetic tests related to Chromosome 4q21 Deletion Syndrome:

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

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

40
Colon
Sources

Publications for Chromosome 4q21 Deletion Syndrome

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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. 57
20522426 2010
2
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. 57
16909388 2006
3
A 4q21-q22 deletion in a girl with severe growth retardation. 57
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
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Variations for Chromosome 4q21 Deletion Syndrome

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ClinVar genetic disease variations for Chromosome 4q21 Deletion Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDS1 Deletion Pathogenic 830313 4:83196931-85540706
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Expression for Chromosome 4q21 Deletion Syndrome

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

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GO Terms for Chromosome 4q21 Deletion Syndrome

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Sources for Chromosome 4q21 Deletion Syndrome

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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
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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