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MCID: CHR399
MIFTS: 26

Chromosome 4q21 Deletion Syndrome

Categories: Fetal diseases, Rare diseases, Genetic diseases
Genes Related diseases Publications Pathways 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 15 73
4q21 Microdeletion Syndrome 12 59
Monosomy 4q21 12 59
Del(4)(q21) 59

Characteristics:

Orphanet epidemiological data:

59
4q21 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
isolated cases

Miscellaneous:
contiguous gene deletion syndrome


HPO:

32
chromosome 4q21 deletion syndrome:
Inheritance sporadic


Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Developmental anomalies during embryogenesis


Sources

Summaries for Chromosome 4q21 Deletion Syndrome

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MalaCards based summary : Chromosome 4q21 Deletion Syndrome, also known as 4q21 microdeletion syndrome, is related to limb-girdle muscular dystrophy, type 1g. An important gene associated with Chromosome 4q21 Deletion Syndrome is DEL4Q21 (Chromosome 4q21 Deletion Syndrome), and among its related pathways/superpathways are Gap junction and Long-term depression. Related phenotypes are hypertelorism and low-set ears

Description from OMIM: 613509
Sources

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 limb-girdle muscular dystrophy, type 1g 9.2 ENOPH1 HNRNPDL

Sources

Symptoms & Phenotypes for Chromosome 4q21 Deletion Syndrome

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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism

Head And Neck Mouth:
downturned corners of mouth

Muscle Soft Tissue:
hypotonia

Head And Neck Head:
frontal bossing
broad forehead
short philtrum

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

Growth Other:
postnatal growth retardation, severe


Clinical features from OMIM:

613509

Human phenotypes related to Chromosome 4q21 Deletion Syndrome:

59 32 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
3 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
4 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
5 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
6 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
7 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
8 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
9 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
10 sleep disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0002360
11 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
12 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
13 self-injurious behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0100716
14 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
15 global developmental delay 59 32 Very frequent (99-80%) HP:0001263
16 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
17 abnormality of the dentition 59 32 occasional (7.5%) Occasional (29-5%) HP:0000164
18 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
19 stereotypy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000733
20 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
21 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
22 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
23 micromelia 59 32 frequent (33%) Frequent (79-30%) HP:0002983
24 short palm 59 32 frequent (33%) Frequent (79-30%) HP:0004279
25 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230
26 severe global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011344
27 short foot 59 32 frequent (33%) Frequent (79-30%) HP:0001773
28 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
29 intrauterine growth retardation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001511
30 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
31 broad forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000337
32 cerebellar hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001321
33 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
34 small hand 59 32 frequent (33%) Frequent (79-30%) HP:0200055
35 downturned corners of mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0002714
36 high forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0000348
37 large fontanelles 59 32 occasional (7.5%) Occasional (29-5%) HP:0000239
38 thin vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0000233
39 long eyelashes 59 32 occasional (7.5%) Occasional (29-5%) HP:0000527
40 toe syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001770
41 synophrys 59 32 occasional (7.5%) Occasional (29-5%) HP:0000664
42 growth delay 59 Very frequent (99-80%)
43 postnatal growth retardation 32 HP:0008897
44 generalized hypotonia 32 HP:0001290
45 cerebral hypoplasia 32 HP:0006872
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
Sources

Anatomical Context for Chromosome 4q21 Deletion Syndrome

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Publications for Chromosome 4q21 Deletion Syndrome

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Articles related to Chromosome 4q21 Deletion Syndrome:

# Title Authors Year
1
Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome. ( 25774221 )
2015
2
Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome. ( 22903878 )
2012
Sources

Variations for Chromosome 4q21 Deletion Syndrome

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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.
Sources

Pathways for Chromosome 4q21 Deletion Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Gap junction 37
10.9 HRAS PRKG2
2
Long-term depression 37
10.4 HRAS PRKG2
Sources

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 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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