MCID: CHR222
MIFTS: 48

Chromosome 1p36 Deletion Syndrome

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Chromosome 1p36 Deletion Syndrome

MalaCards integrated aliases for Chromosome 1p36 Deletion Syndrome:

Name: Chromosome 1p36 Deletion Syndrome 11 19 42 28 5 43 14 71
1p36 Deletion Syndrome 11 19 42 58 75
Subtelomeric 1p36 Deletion 11 58
Monosomy 1p36 Syndrome 19 42
Deletion 1p36 11 58
Monosomy 1p36 11 58
Distal Monosomy 1p36 42
Deletion 1pter 58
Monosomy 1pter 58
Del(1)(p36) 58

Characteristics:


Inheritance:

1p36 Deletion Syndrome: Multigenic/multifactorial 58

Prevelance:

1p36 Deletion Syndrome: 1-5/10000 (United States) 58

Age Of Onset:

1p36 Deletion Syndrome: Antenatal,Neonatal 58

Age Of Death:

1p36 Deletion Syndrome: any age 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Chromosome 1p36 Deletion Syndrome

GARD: 19 1p36 deletion syndrome is a chromosome disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. Individuals with Chromosome 1p36 deletion syndrome usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia). Other features include a small head that is unusually short and wide; vision and hearing problems; abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or genitalia; and distinctive facial features. Chromosome 1p36 deletion syndrome is caused by a deletion of genetic material from a specific region in the short (p) arm of chromosome 1. Most cases are not inherited; only about 20% of the cases of people with 1p36 deletion syndrome inherit the chromosome with a deleted segment from an unaffected parent. In these cases, the parent carries a balanced translocation, in which no genetic material is gained or lost.

MalaCards based summary: Chromosome 1p36 Deletion Syndrome, also known as 1p36 deletion syndrome, is related to chromosome 1p36 deletion syndrome, proximal and chromosome 1p36 deletion syndrome, distal, and has symptoms including seizures An important gene associated with Chromosome 1p36 Deletion Syndrome is SPEN (Spen Family Transcriptional Repressor), and among its related pathways/superpathways is Thromboxane A2 receptor signaling. Affiliated tissues include heart, brain and pancreas, and related phenotypes are intellectual disability and agenesis of corpus callosum

MedlinePlus Genetics: 42 1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia).People with 1p36 deletion syndrome have a small head that is also unusually short and wide in proportion to its size (microbrachycephaly). Affected individuals also have distinctive facial features including deep-set eyes with straight eyebrows; a sunken appearance of the middle of the face (midface hypoplasia); a broad, flat nose; a long area between the nose and mouth (philtrum); a pointed chin; and ears that are low-set, rotated backwards, and abnormally shaped.People with 1p36 deletion syndrome may have vision or hearing problems. Some have abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or genitalia.

Disease Ontology: 11 A chromosomal deletion syndrome that has material basis in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears.

Orphanet: 58 A rare chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, poor/absent speech, and prenatal onset growth deficiency.

Wikipedia: 75 1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual... more...

Related Diseases for Chromosome 1p36 Deletion Syndrome

Diseases related to Chromosome 1p36 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 113)
# Related Disease Score Top Affiliating Genes
1 chromosome 1p36 deletion syndrome, proximal 32.7 EGID-123670537 DEL1P36
2 chromosome 1p36 deletion syndrome, distal 11.3
3 radio-tartaglia syndrome 11.2
4 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 11.2
5 hypotonia 10.3
6 left ventricular noncompaction 10.2
7 microcephaly 10.2
8 dilated cardiomyopathy 10.2
9 hydrocephalus, congenital, 1 10.2
10 prader-willi syndrome 10.2
11 attention deficit-hyperactivity disorder 10.1
12 myopathy, congenital, with fiber-type disproportion 10.1
13 cardiac arrest 10.1
14 visual epilepsy 10.1
15 turner syndrome 10.1
16 orofacial clefting syndrome 10.1
17 chromosome 6q duplication 10.1
18 ohdo syndrome 10.0
19 simpson-golabi-behmel syndrome, type 1 10.0
20 ohdo syndrome, sbbys variant 10.0
21 congenital hypothyroidism 10.0
22 non-alcoholic fatty liver disease 10.0
23 blepharophimosis 10.0
24 lysosomal storage disease 10.0
25 ventricular septal defect 10.0
26 heart septal defect 10.0
27 chromosomal triplication 10.0
28 chromosome 1p deletion 10.0
29 chromosome 20p duplication 10.0
30 acanthosis nigricans 10.0
31 leptin deficiency or dysfunction 10.0
32 leptin receptor deficiency 10.0
33 alacrima, achalasia, and mental retardation syndrome 10.0
34 west syndrome 10.0
35 hypothyroidism 10.0
36 epilepsy 10.0
37 syndromic obesity 10.0
38 angelman syndrome 10.0
39 dilution, pigmentary 10.0
40 hypercholesterolemia, familial, 1 10.0
41 corpus callosum, agenesis of 10.0
42 duodenal atresia 10.0
43 cantu syndrome 10.0
44 ocular motor apraxia 10.0
45 aicardi syndrome 10.0
46 periventricular nodular heterotopia 10.0
47 non-alcoholic steatohepatitis 10.0
48 clubfoot 10.0
49 obstructive hydrocephalus 10.0
50 hereditary spastic paraplegia 10.0

Graphical network of the top 20 diseases related to Chromosome 1p36 Deletion Syndrome:



Diseases related to Chromosome 1p36 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 1p36 Deletion Syndrome

Human phenotypes related to Chromosome 1p36 Deletion Syndrome:

58 30 (show top 50) (show all 103)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 agenesis of corpus callosum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001274
3 failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001508
4 eeg abnormality 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002353
5 gait disturbance 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001288
6 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
7 wide nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000431
8 absent speech 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001344
9 brachydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001156
10 long philtrum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000343
11 deeply set eye 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000490
12 ventriculomegaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002119
13 cerebral cortical atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002120
14 pointed chin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000307
15 midface retrusion 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011800
16 camptodactyly of finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100490
17 short foot 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001773
18 poor speech 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002465
19 horizontal eyebrow 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011228
20 hypotonia 30 Hallmark (90%) HP:0001252
21 dysphagia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002015
22 constipation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002019
23 self-injurious behavior 58 30 Frequent (33%) Frequent (79-30%)
HP:0100716
24 depressed nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0005280
25 microcephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000252
26 gastroesophageal reflux 58 30 Frequent (33%) Frequent (79-30%)
HP:0002020
27 feeding difficulties in infancy 58 30 Frequent (33%) Frequent (79-30%)
HP:0008872
28 brachycephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000248
29 strabismus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000486
30 autism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000717
31 epicanthus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000286
32 narrow mouth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000160
33 depressed nasal ridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0000457
34 clinodactyly of the 5th finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0004209
35 low-set, posteriorly rotated ears 58 30 Frequent (33%) Frequent (79-30%)
HP:0000368
36 high hypermetropia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008499
37 delayed cranial suture closure 58 30 Frequent (33%) Frequent (79-30%)
HP:0000270
38 seizure 30 Frequent (33%) HP:0001250
39 motor stereotypy 30 Frequent (33%) HP:0000733
40 frontal bossing 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002007
41 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
42 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
43 kyphosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002808
44 hypothyroidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000821
45 cataract 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000518
46 hip dysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001385
47 joint stiffness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001387
48 microtia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008551
49 sensorineural hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000407
50 visual impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000505

UMLS symptoms related to Chromosome 1p36 Deletion Syndrome:


seizures

MGI Mouse Phenotypes related to Chromosome 1p36 Deletion Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.73 GABRD GNB1 HSPG2 KCNAB2 LUZP1 PEX10
2 mortality/aging MP:0010768 9.44 CASZ1 GABRD GNB1 HSPG2 KCNAB2 LUZP1

Drugs & Therapeutics for Chromosome 1p36 Deletion Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 SNP-based Microdeletion and Aneuploidy RegisTry Completed NCT02381457
2 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Chromosome 1p36 Deletion Syndrome

Cochrane evidence based reviews: chromosome 1p36 deletion syndrome

Genetic Tests for Chromosome 1p36 Deletion Syndrome

Genetic tests related to Chromosome 1p36 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 1p36 Deletion Syndrome 28

Anatomical Context for Chromosome 1p36 Deletion Syndrome

Organs/tissues related to Chromosome 1p36 Deletion Syndrome:

MalaCards : Heart, Brain, Pancreas, Spleen, Eye, Skin, Liver

Publications for Chromosome 1p36 Deletion Syndrome

Articles related to Chromosome 1p36 Deletion Syndrome:

(show top 50) (show all 161)
# Title Authors PMID Year
1
Abatacept as an alternative therapy for the treatment of drug-intolerant lupus nephritis: A case of underlying monosomy 1p36 deletion syndrome. 62
35142279 2022
2
Genetic findings in early miscarriage analysis by Chromosomal Microarray and Whole Exome Sequencing. 62
35557144 2022
3
Monosomy 1p36: Report of a cohort of 13 Asian Indian patients. 62
34989134 2022
4
Implication of Genetic Testing and Pregnancy Outcome in a Woman with Unbalanced Translocation t(1;6). 62
35192596 2022
5
Outcome of Vertical Expandable Prosthetic Titanium Rib (VEPTR) Instrumentation in Scoliosis Associated With 1p36 Deletion Syndrome: A Case Report. 62
35223281 2022
6
Noncongenital juvenile-onset bilateral lamellar cataract in 1p36 deletion syndrome. 62
34478844 2021
7
1p36 Deletion Syndrome and the Aorta: A Report of Three New Patients and a Literature Review. 62
34821712 2021
8
Psychiatric Comorbidities in 1p36 Deletion Syndrome and Their Treatment-A Case Report. 62
34831818 2021
9
The Neuropathology of 1p36 Deletion Syndrome: An Autopsy Case Series. 62
34363665 2021
10
Prenatal detection of 1p36 deletion syndrome: ultrasound findings and microarray testing results. 62
31446820 2021
11
RERE deficiency contributes to the development of orofacial clefts in humans and mice. 62
33772547 2021
12
[Application analysis of noninvasive prenatal testing for fetal chromosome copy number variations in Chinese laboratories]. 62
33878837 2021
13
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. 62
33596411 2021
14
1p36 Deletion Syndrome and Left Ventricular Non-compaction Cardiomyopathy-Two Cases Report. 62
34164357 2021
15
Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria. 62
32488097 2020
16
Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation. 62
33510599 2020
17
A rare cardiac phenotype of dextrocardia observed in a fetus with 1p36 deletion syndrome and a balanced translocation: a prenatal case report. 62
33292381 2020
18
A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis. 62
32170730 2020
19
Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: a case report. 62
32386509 2020
20
Cardiac-specific inactivation of Prdm16 effects cardiac conduction abnormalities and cardiomyopathy-associated phenotypes. 62
32083975 2020
21
Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review. 62
32939224 2020
22
1p36 deletion syndrome: first case report in Morocco detected by fluorescence in situ hybridization. 62
33738037 2020
23
Prenatal findings in 1p36 deletion syndrome: New cases and a literature review. 62
31172545 2019
24
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy. 62
31207089 2019
25
Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome. 62
31662930 2019
26
Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications. 62
30109707 2018
27
Cutis laxa in a patient with 1p36 deletion syndrome. 62
29611295 2018
28
Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2. 62
29928183 2018
29
1p deletion syndrome: A prenatal diagnosis characterized by an abnormal 1st trimester combined screening test, yet a normal NIPT result. 62
29458877 2018
30
Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review. 62
29212048 2018
31
A Novel Case of Biliary Atresia in a Premature Neonate With 1p36 Deletion Syndrome. 62
30057923 2018
32
[Prenatal diagnosis of two fetuses with chromosome 1p36 deletion syndrome]. 62
29188615 2017
33
Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory. 62
29032050 2017
34
Clinical application of SNP array analysis in fetuses with ventricular septal defects and normal karyotypes. 62
28905115 2017
35
Case report of Pierre Robin sequence with severe upper airway obstruction who was rescued by fiberoptic nasotracheal intubation. 62
28288578 2017
36
Abdominal paraganglioma in a young woman with 1p36 deletion syndrome. 62
27774766 2017
37
Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome. 62
27629806 2017
38
1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis. 62
28018437 2016
39
[An updated review of 1p36 deletion (monosomy) syndrome]. 62
26875550 2016
40
Is 1p36 deletion associated with anterior body wall defects? 62
27144803 2016
41
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. 62
27087320 2016
42
The Growing Complexity of the Monosomy 1p36 Syndrome. 62
27385960 2016
43
Mini-Review: Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes. 62
26910004 2016
44
Detection of 1p36 deletion by clinical exome-first diagnostic approach. 62
28428889 2016
45
What Is New in Genetics of Congenital Heart Defects? 62
27990414 2016
46
Screening for Subtelomeric Rearrangements in Thai Patients with Intellectual Disabilities Using FISH and Review of Literature on Subtelomeric FISH in 15,591 Cases with Intellectual Disabilities. 62
27822388 2016
47
Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay. 62
26893599 2016
48
Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies. 62
26040972 2015
49
Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications. 62
25172301 2015
50
1p36 deletion syndrome: an update. 62
26345236 2015

Variations for Chromosome 1p36 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 1p36 Deletion Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 99 genes GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363) CN LOSS Pathogenic
625766 GRCh37: 1:823964-6828363
GRCh38:
2 overlap with 73 genes GRCh37/hg19 1p36.33-36.32(chr1:568708-3662949) CN LOSS Pathogenic
625767 GRCh37: 1:568708-3662949
GRCh38:
3 overlap with 64 genes GRCh37/hg19 1p36.33-36.32(chr1:568708-2567832) CN LOSS Pathogenic
625768 GRCh37: 1:568708-2567832
GRCh38:
4 overlap with 22 genes GRCh37/hg19 1p36.33-36.32(chr1:1723651-3444846)x1 CN LOSS Pathogenic
666432 GRCh37: 1:1723651-3444846
GRCh38:
5 overlap with 34 genes DEL Pathogenic
Pathogenic
974581 GRCh37: 1:1670720-3816863
GRCh38:
6 overlap with 103 genes GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1 CN LOSS Pathogenic
1341993 GRCh37: 1:834101-7930605
GRCh38:
7 overlap with 21 genes GRCh37/hg19 1p36.31-36.23(chr1:6250285-7943864) CN LOSS Pathogenic
1703625 GRCh37: 1:6250285-7943864
GRCh38:
8 overlap with 79 genes GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566) CN LOSS Pathogenic
1703627 GRCh37: 1:849466-5625566
GRCh38:
9 overlap with 78 genes GRCh37/hg19 1p36.33-36.32(chr1:849466-4183006) CN LOSS Pathogenic
1703628 GRCh37: 1:849466-4183006
GRCh38:
10 overlap with 49 genes GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1 CN LOSS Not Provided
1177499 GRCh37: 1:2420003-8155935
GRCh38:

Copy number variations for Chromosome 1p36 Deletion Syndrome from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 13744 1 1 27800000 Deletion GABRD 1p36 deletion syndrome
2 13745 1 1 27800000 Deletion GNB1 1p36 deletion syndrome
3 13746 1 1 27800000 Deletion TNFRSF4 1p36 deletion syndrome
4 13816 1 1 7100000 Deletion 1p36 deletion syndrome

Expression for Chromosome 1p36 Deletion Syndrome

Search GEO for disease gene expression data for Chromosome 1p36 Deletion Syndrome.

Pathways for Chromosome 1p36 Deletion Syndrome

Pathways related to Chromosome 1p36 Deletion Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.15 PRKCZ GNB1

GO Terms for Chromosome 1p36 Deletion Syndrome

Cellular components related to Chromosome 1p36 Deletion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription repressor complex GO:0017053 9.1 SPEN SKI PRDM16

Sources for Chromosome 1p36 Deletion Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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