MCID: CHR583
MIFTS: 40

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 57 25
Chromosome 1q21.1 Deletion Syndrome 57 12 25 13 15
1q21.1 Microdeletion Syndrome 12 53 59
Monosomy 1q21.1 12 53 59
1q21.1 Microdeletion 53 25
Chromosome 1q21.1 Microdeletion Syndrome 53
1q21.1 Contiguous Gene Deletion 25
1q21.1 Deletion 25
Del(1)(q21) 59

Characteristics:

Orphanet epidemiological data:

59
1q21.1 microdeletion syndrome
Inheritance: Autosomal dominant,Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
incomplete penetrance


HPO:

32
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 : 53 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 thrombocytopenia. 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 agenesis of corpus callosum and frontal bossing

Genetics Home Reference : 25 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 : 76 1q21.1 deletion syndrome or 1q21.1 (recurrent) microdeletion is a rare aberration of chromosome... more...

Description from OMIM: 612474

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

Diseases related to Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 thrombocytopenia-absent radius syndrome 11.6
2 thrombocytopenia 10.3
3 langerhans cell histiocytosis 10.2
4 histiocytosis 10.2
5 heart disease 10.1
6 alacrima, achalasia, and mental retardation syndrome 10.1
7 pseudoarthrosis 10.1
8 microcephaly 10.0
9 pulmonary valve stenosis 10.0
10 ankyloblepharon-ectodermal defects-cleft lip/palate 9.9 RIPK4 TP63
11 cleft lip and alveolus 9.8 IRF6 TP63
12 cleft lip 9.8 IRF6 TP63
13 isolated cleft lip 9.8 IRF6 TP63
14 cocoon syndrome 9.7 CHUK IRF6 RIPK4
15 popliteal pterygium syndrome 9.7 CHUK IRF6 RIPK4
16 bartsocas-papas syndrome 9.7 IRF6 RIPK4 TP63
17 cleft lip/palate 9.6 IRF6 TP63

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
2 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
3 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
4 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
5 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
6 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
7 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
8 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
9 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
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 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
13 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
14 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
15 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
16 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
17 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
18 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
19 broad hallux phalanx 59 32 occasional (7.5%) Occasional (29-5%) HP:0010059
20 broad thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0011304
21 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
22 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
23 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
24 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
25 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
26 short foot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001773
27 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
28 autism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000717
29 attention deficit hyperactivity disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0007018
30 intrauterine growth retardation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001511
31 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
32 talipes equinovarus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001762
33 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
34 deeply set eye 59 32 frequent (33%) Frequent (79-30%) HP:0000490
35 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
36 vesicoureteral reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0000076
37 bulbous nose 59 32 frequent (33%) Frequent (79-30%) HP:0000414
38 hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001161
39 foot polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001829
40 schizophrenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100753
41 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
42 toe syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001770
43 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
44 interrupted aortic arch 59 32 occasional (7.5%) Occasional (29-5%) HP:0011611
45 ankyloglossia 59 32 occasional (7.5%) Occasional (29-5%) HP:0010296
46 coarctation of aorta 32 HP:0001680
47 truncus arteriosus 32 HP:0001660
48 abnormality of the cardiac septa 59 Occasional (29-5%)
49 high-grade hypermetropia 59 Occasional (29-5%)
50 transposition of the great arteries 32 HP:0001669

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

26
# 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:

46
# 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:

41
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 ACP6; BCL9; CHD1L; FMO5; GJA5; GJA8; GPR89B; PRKAB2 NC_000001.10: g.(146560564_?)_(?_147416122)del deletion 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 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
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