MCID: CHR399
MIFTS: 27

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 58 12 30 13 15 74
4q21 Microdeletion Syndrome 12 60
Monosomy 4q21 12 60
Del(4)(q21) 60

Characteristics:

Orphanet epidemiological data:

60
4q21 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
isolated cases

Miscellaneous:
contiguous gene deletion syndrome


HPO:

33
chromosome 4q21 deletion syndrome:
Inheritance sporadic


Classifications:



Summaries for Chromosome 4q21 Deletion Syndrome

MalaCards based summary : Chromosome 4q21 Deletion Syndrome, also known as 4q21 microdeletion syndrome, is related to malignant hemangioma. 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 muscular hypotonia and delayed speech and language development

Description 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 malignant hemangioma 7.8 BMP3 ENOPH1 HNRNPD HNRNPDL LINC00575 PRKG2

Symptoms & Phenotypes for Chromosome 4q21 Deletion Syndrome

Human phenotypes related to Chromosome 4q21 Deletion Syndrome:

60 33 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
2 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
3 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
4 severe global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0011344
5 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
6 low-set ears 60 33 frequent (33%) Frequent (79-30%) HP:0000369
7 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
8 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
9 depressed nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0005280
10 full cheeks 60 33 frequent (33%) Frequent (79-30%) HP:0000293
11 micromelia 60 33 frequent (33%) Frequent (79-30%) HP:0002983
12 short palm 60 33 frequent (33%) Frequent (79-30%) HP:0004279
13 short foot 60 33 frequent (33%) Frequent (79-30%) HP:0001773
14 broad forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000337
15 short philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000322
16 small hand 60 33 frequent (33%) Frequent (79-30%) HP:0200055
17 agenesis of corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0001274
18 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
19 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
20 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
21 sleep disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0002360
22 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
23 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
24 self-injurious behavior 60 33 occasional (7.5%) Occasional (29-5%) HP:0100716
25 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
26 abnormality of the dentition 60 33 occasional (7.5%) Occasional (29-5%) HP:0000164
27 stereotypy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000733
28 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
29 generalized hirsutism 60 33 occasional (7.5%) Occasional (29-5%) HP:0002230
30 autism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000717
31 intrauterine growth retardation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001511
32 ventriculomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002119
33 cerebellar hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001321
34 downturned corners of mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0002714
35 high forehead 60 33 occasional (7.5%) Occasional (29-5%) HP:0000348
36 large fontanelles 60 33 occasional (7.5%) Occasional (29-5%) HP:0000239
37 thin vermilion border 60 33 occasional (7.5%) Occasional (29-5%) HP:0000233
38 long eyelashes 60 33 occasional (7.5%) Occasional (29-5%) HP:0000527
39 toe syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001770
40 synophrys 60 33 occasional (7.5%) Occasional (29-5%) HP:0000664
41 global developmental delay 60 33 Very frequent (99-80%) HP:0001263
42 growth delay 60 Very frequent (99-80%)
43 postnatal growth retardation 33 HP:0008897
44 generalized hypotonia 33 HP:0001290
45 cerebral hypoplasia 33 HP:0006872
46 psychomotor retardation 33 HP:0025356

Symptoms via clinical synopsis from OMIM:

58
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
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 30

Anatomical Context for Chromosome 4q21 Deletion Syndrome

Publications for Chromosome 4q21 Deletion Syndrome

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

Variations for Chromosome 4q21 Deletion Syndrome

Expression for Chromosome 4q21 Deletion Syndrome

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

Pathways for Chromosome 4q21 Deletion Syndrome

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

# Super pathways Score Top Affiliating Genes
1 11.1 HRAS PRKG2
2 10.4 HRAS PRKG2
3
Show member pathways
10.28 HNRNPD HRAS

GO Terms for Chromosome 4q21 Deletion Syndrome

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 HNRNPD HNRNPDL

Sources for Chromosome 4q21 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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