MCID: CHR583
MIFTS: 39

Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

MalaCards integrated aliases for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb:

Name: Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb 58 26
Chromosome 1q21.1 Deletion Syndrome 58 12 26 13 15
1q21.1 Microdeletion Syndrome 12 54 60
Monosomy 1q21.1 12 54 60
1q21.1 Microdeletion 54 26
Chromosome 1q21.1 Microdeletion Syndrome 54
1q21.1 Contiguous Gene Deletion 26
1q21.1 Deletion 26
Del(1)(q21) 60

Characteristics:

Orphanet epidemiological data:

60
1q21.1 microdeletion syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
incomplete penetrance


HPO:

33
chromosome 1q21.1 deletion syndrome, 1.35-mb:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

NIH Rare Diseases : 54 1q21.1 microdeletion syndrome is a chromosome abnormality where a segment of genetic material on the long arm (or q arm) of chromosome 1 at position 21.1 is missing (or deleted). Some people with this deletion have no observable features while others have variable findings that can include a small head (microcephaly), developmental delay (speech and motor delays), mild intellectual disability, distinctive facial features, and eye abnormalities. Other findings can include seizures as well as abnormalities of the heart, skeleton, and urinary system. Psychiatric and behavioral features can include autism spectrum disorders, anxiety and mood disorders, schizophrenia, attention deficit hyperactivity disorder and sleep disorders. This syndrome is caused by a deletion in a specific region of 1q21.1, which is distinct from the deletion region that causes TAR syndrome.

MalaCards based summary : Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb, also known as chromosome 1q21.1 deletion syndrome, is related to thrombocytopenia-absent radius syndrome and xp22.3 microdeletion syndrome. An important gene associated with Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb is DEL1Q21 (Chromosome 1q21.1 Deletion Syndrome), and among its related pathways/superpathways are Apoptosis Modulation and Signaling and NF-kappaB Signaling. Affiliated tissues include eye and heart, and related phenotypes are frontal bossing and high palate

Genetics Home Reference : 26 1q21.1 microdeletion is a chromosomal change in which a small piece of chromosome 1 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q21.1. This chromosomal change increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. However, some people with a 1q21.1 microdeletion do not appear to have any associated features.

Wikipedia : 77 1q21.1 deletion syndrome is a rare aberration of chromosome 1.A human cell has one pair of identical... more...

Description from OMIM: 612474

Related Diseases for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Graphical network of the top 20 diseases related to Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb:



Diseases related to Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Symptoms & Phenotypes for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Human phenotypes related to Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb:

60 33 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
2 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
3 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
4 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
5 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
6 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
7 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
8 long philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000343
9 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
10 deeply set eye 60 33 frequent (33%) Frequent (79-30%) HP:0000490
11 bulbous nose 60 33 frequent (33%) Frequent (79-30%) HP:0000414
12 agenesis of corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0001274
13 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
14 depressivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0000716
15 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
16 muscular hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001252
17 failure to thrive 60 33 occasional (7.5%) Occasional (29-5%) HP:0001508
18 sleep disturbance 60 33 occasional (7.5%) Occasional (29-5%) HP:0002360
19 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
20 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
21 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
22 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
23 broad hallux phalanx 60 33 occasional (7.5%) Occasional (29-5%) HP:0010059
24 broad thumb 60 33 occasional (7.5%) Occasional (29-5%) HP:0011304
25 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
26 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
27 joint hyperflexibility 60 33 occasional (7.5%) Occasional (29-5%) HP:0005692
28 short foot 60 33 occasional (7.5%) Occasional (29-5%) HP:0001773
29 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
30 autism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000717
31 attention deficit hyperactivity disorder 60 33 occasional (7.5%) Occasional (29-5%) HP:0007018
32 intrauterine growth retardation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001511
33 anxiety 60 33 occasional (7.5%) Occasional (29-5%) HP:0000739
34 talipes equinovarus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001762
35 microphthalmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000568
36 clinodactyly of the 5th finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0004209
37 vesicoureteral reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0000076
38 hand polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001161
39 foot polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001829
40 schizophrenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100753
41 iris coloboma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000612
42 toe syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001770
43 hydronephrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000126
44 interrupted aortic arch 60 33 occasional (7.5%) Occasional (29-5%) HP:0011611
45 ankyloglossia 60 33 occasional (7.5%) Occasional (29-5%) HP:0010296
46 high hypermetropia 33 occasional (7.5%) HP:0008499
47 abnormal cardiac septum morphology 33 occasional (7.5%) HP:0001671
48 coarctation of aorta 33 HP:0001680
49 truncus arteriosus 33 HP:0001660
50 abnormality of the cardiac septa 60 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
frontal bossing
mild dysmorphism

Cardiovascular Vascular:
patent ductus arteriosus
coarctation of aorta
truncus arteriosus
transposition of great vessels

Head And Neck Nose:
bulbous nose

Skeletal Hands:
broad thumbs

Growth Height:
normal or reduced

Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
autism
schizophrenia
mild to moderate mental retardation
normal neurological development is possible

Head And Neck Eyes:
deep-set eyes

Skeletal Feet:
broad halluces
duplicated or bifid halluces (minority)

Cardiovascular Heart:
bicuspid aortic valve with aneurysm

Clinical features from OMIM:

612474

GenomeRNAi Phenotypes related to Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Downregulation of NF-kappaB pathway after TNFalpha stimulation GR00199-A-2 8.62 CHUK RIPK4

MGI Mouse Phenotypes related to Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.56 CHUK IRF6 RIPK4 TP63
2 digestive/alimentary MP:0005381 9.46 CHUK IRF6 RIPK4 TP63
3 limbs/digits/tail MP:0005371 9.35 CHUK DAD1 IRF6 RIPK4 TP63
4 mortality/aging MP:0010768 9.1 AVP CHUK DAD1 IRF6 RIPK4 TP63

Drugs & Therapeutics for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Online Study of Individuals With Genetic Changes and Features of Autism: Simons Variation in Individuals Project (Simons VIP) Recruiting NCT01238250

Search NIH Clinical Center for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Genetic Tests for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Anatomical Context for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

MalaCards organs/tissues related to Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb:

42
Eye, Heart

Publications for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Articles related to Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb:

# Title Authors Year
1
Hyponatremia: An Unusual Presentation in a Neonate With Chromosome 1q21.1 Deletion Syndrome. ( 30364227 )
2018

Variations for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

ClinVar genetic disease variations for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GJA5 NM_005266.6(GJA5): c.995G> A (p.Arg332His) single nucleotide variant Uncertain significance rs116551187 GRCh37 Chromosome 1, 147230352: 147230352
2 GJA5 NM_005266.6(GJA5): c.995G> A (p.Arg332His) single nucleotide variant Uncertain significance rs116551187 GRCh38 Chromosome 1, 147758244: 147758244
3 ACP6; BCL9; CHD1L; FMO5; GJA5; GJA8; GPR89B; PRKAB2 NC_000001.10: g.(146560564_?)_(?_147416122)del deletion Pathogenic GRCh37 Chromosome 1, 146560564: 147416122
4 ACP6; BCL9; CHD1L; FMO5; GJA5; GJA8; GPR89B; PRKAB2 GRCh37/hg19 1q21.1-21.2(chr1: 146618988-147825678) copy number loss Pathogenic GRCh37 Chromosome 1, 146618988: 147825678
5 ACP6; BCL9; CHD1L; FMO5; GJA5; GJA8; GPR89B; PRKAB2 GRCh37/hg19 1q21.1-21.2(chr1: 146560564-147416122) copy number loss Pathogenic GRCh37 Chromosome 1, 146560564: 147416122

Expression for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Search GEO for disease gene expression data for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb.

Pathways for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Pathways related to Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.03 CHUK IRF6 TP63
2 11.65 CHUK IRF6 RIPK4
3 9.53 IRF6 TP63

GO Terms for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

Biological processes related to Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.13 CHUK IRF6 TP63
2 keratinocyte differentiation GO:0030216 8.62 IRF6 TP63

Molecular functions related to Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 8.8 AVP CHUK RIPK4

Sources for Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

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
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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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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