MCID: CHR222
MIFTS: 49

Chromosome 1p36 Deletion Syndrome

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chromosome 1p36 Deletion Syndrome

MalaCards integrated aliases for Chromosome 1p36 Deletion Syndrome:

Name: Chromosome 1p36 Deletion Syndrome 58 12 54 26 30 13 6 45 15 74
1p36 Deletion Syndrome 12 77 25 54 26 60 38
Monosomy 1p36 Syndrome 58 25 54 26
Subtelomeric 1p36 Deletion 12 60
Deletion 1p36 12 60
Monosomy 1p36 12 60
Distal Monosomy 1p36 26
Deletion 1pter 60
Monosomy 1pter 60
Del(1)(p36) 60

Characteristics:

Orphanet epidemiological data:

60
1p36 deletion syndrome
Inheritance: Not applicable; Prevalence: 1-5/10000 (United States); Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM:

58
Miscellaneous:
variable phenotype
contiguous gene deletion syndrome
marked variability in the deletion size
most common terminal deletion syndrome
incidence of 1 in 5,000 to 1 in 10,000

Inheritance:
isolated cases


HPO:

33
chromosome 1p36 deletion syndrome:
Inheritance sporadic


Classifications:



External Ids:

Disease Ontology 12 DOID:0060410
OMIM 58 607872
KEGG 38 H01792
MeSH 45 C535362
NCIt 51 C74983
ICD10 via Orphanet 35 Q93.5
UMLS via Orphanet 75 C1842870
Orphanet 60 ORPHA1606
MedGen 43 C1842870
UMLS 74 C1842870

Summaries for Chromosome 1p36 Deletion Syndrome

NIH Rare Diseases : 54 1p36 deletionsyndrome 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. Affected individuals 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. 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. There is no cure for this disease. Treatment depends on the symptoms, and may include rehabilitation/educational programs, antiepileptic medication, and standard treatment for heart, kidney, eye, hearing or bone problems.

MalaCards based summary : Chromosome 1p36 Deletion Syndrome, also known as 1p36 deletion syndrome, is related to neurodevelopmental disorder with or without anomalies of the brain, eye, or heart and xp22.3 microdeletion syndrome, and has symptoms including seizures An important gene associated with Chromosome 1p36 Deletion Syndrome is DEL1P36 (Chromosome 1p36 Deletion Syndrome). Affiliated tissues include brain, eye and heart, and related phenotypes are agenesis of corpus callosum and intellectual disability

Genetics Home Reference : 26 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).

OMIM : 58 The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental retardation (Shapira et al., 1997). Monosomy 1p36 is the most common terminal deletion syndrome in humans, occurring in 1 in 5,000 births (Shaffer and Lupski, 2000; Heilstedt et al., 2003). See also neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH; 616975), which shows overlapping features and is caused by heterozygous mutation in the RERE gene (605226) on proximal chromosome 1p36. (607872)

Wikipedia : 77 1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe... more...

GeneReviews: NBK1191

Related Diseases for Chromosome 1p36 Deletion Syndrome

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:

60 33 (show top 50) (show all 154)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 60 33 hallmark (90%) Very frequent (99-80%) HP:0001274
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 muscular hypotonia 60 33 very rare (1%) Very frequent (99-80%) HP:0001252
4 gait disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0001288
5 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
6 eeg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0002353
7 global developmental delay 60 33 very rare (1%) Very frequent (99-80%) HP:0001263
8 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
9 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
10 short foot 60 33 hallmark (90%) Very frequent (99-80%) HP:0001773
11 absent speech 60 33 hallmark (90%) Very frequent (99-80%) HP:0001344
12 ventriculomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002119
13 cerebral cortical atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0002120
14 deeply set eye 60 33 very rare (1%) Very frequent (99-80%) HP:0000490
15 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
16 pointed chin 60 33 very rare (1%) Very frequent (99-80%) HP:0000307
17 midface retrusion 60 33 hallmark (90%) Very frequent (99-80%) HP:0011800
18 camptodactyly of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0100490
19 poor speech 60 33 hallmark (90%) Very frequent (99-80%) HP:0002465
20 horizontal eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0011228
21 seizures 60 33 very rare (1%) Frequent (79-30%) HP:0001250
22 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
23 constipation 60 33 frequent (33%) Frequent (79-30%) HP:0002019
24 self-injurious behavior 60 33 frequent (33%) Frequent (79-30%) HP:0100716
25 depressed nasal bridge 60 33 very rare (1%) Frequent (79-30%) HP:0005280
26 microcephaly 60 33 very rare (1%) Frequent (79-30%) HP:0000252
27 gastroesophageal reflux 60 33 frequent (33%) Frequent (79-30%) HP:0002020
28 feeding difficulties in infancy 60 33 frequent (33%) Frequent (79-30%) HP:0008872
29 stereotypy 60 33 frequent (33%) Frequent (79-30%) HP:0000733
30 brachycephaly 60 33 very rare (1%) Frequent (79-30%) HP:0000248
31 strabismus 60 33 very rare (1%) Frequent (79-30%) HP:0000486
32 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
33 autism 60 33 frequent (33%) Frequent (79-30%) HP:0000717
34 depressed nasal ridge 60 33 very rare (1%) Frequent (79-30%) HP:0000457
35 clinodactyly of the 5th finger 60 33 very rare (1%) Frequent (79-30%) HP:0004209
36 low-set, posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368
37 narrow mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000160
38 delayed cranial suture closure 60 33 frequent (33%) Frequent (79-30%) HP:0000270
39 high hypermetropia 33 frequent (33%) HP:0008499
40 obesity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001513
41 frontal bossing 60 33 occasional (7.5%) Occasional (29-5%) HP:0002007
42 nystagmus 60 33 very rare (1%) Occasional (29-5%) HP:0000639
43 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
44 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
45 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
46 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
47 hip dysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001385
48 joint stiffness 60 33 occasional (7.5%) Occasional (29-5%) HP:0001387
49 microtia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008551
50 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
thickened helices
posteriorly rotated ears
sensorineural hearing loss
asymmetric ears

Head And Neck Eyes:
nystagmus
strabismus
myopia
optic nerve coloboma
hypermetropia
more
Skeletal Spine:
scoliosis

Head And Neck Face:
prominent forehead
long philtrum
pointed chin
midface hypoplasia

Cardiovascular Vascular:
patent ductus arteriosus
dilated aortic root

Skeletal Feet:
pes cavus
brachydactyly
short feet
prominent heels

Chest Ribs Sternum Clavicles And Scapulae:
bifid ribs
missing ribs
fused ribs

Skeletal:
flexion contractures

Abdomen Gastrointestinal:
feeding problems (infancy)
gastroesophageal reflux (infancy)

Growth Other:
growth retardation, pre- and postnatal

Neurologic Central Nervous System:
hydrocephalus
seizures
global developmental delay
ventriculomegaly
pachygyria
more
Endocrine Features:
hypothyroidism

Head And Neck Head:
microcephaly
brachycephaly
delayed closure of fontanel
large anterior fontanel

Head And Neck Mouth:
cleft palate
bifid uvula
cleft lip
high-arched palate
submucous cleft

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
noncompaction cardiomyopathy
dilated cardiomyopathy (infancy)

Skeletal Hands:
brachydactyly
fifth finger clinodactyly
short fifth finger

Head And Neck Nose:
flat nasal bridge
flat nose

Neurologic Behavioral Psychiatric Manifestations:
hyperphagia
behavioral disorders

Growth Weight:
obesity (after infancy)

Laboratory Abnormalities:
partial terminal deletion of short arm of chromosome 1 (1p36)

Clinical features from OMIM:

607872

UMLS symptoms related to Chromosome 1p36 Deletion Syndrome:


seizures

MGI Mouse Phenotypes related to Chromosome 1p36 Deletion Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.76 CASZ1 HIRA LUZP1 MAGI2 PRDM16 PRDM6
2 mortality/aging MP:0010768 9.7 CASZ1 GABRD HIRA KCNAB2 LUZP1 MAGI2
3 nervous system MP:0003631 9.28 GABRD HIRA KCNAB2 LUZP1 MAGI2 PRDM16

Drugs & Therapeutics for Chromosome 1p36 Deletion Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
2 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Active, not recruiting NCT02381457

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 30

Anatomical Context for Chromosome 1p36 Deletion Syndrome

MalaCards organs/tissues related to Chromosome 1p36 Deletion Syndrome:

42
Brain, Eye, Heart, Kidney, Bone, Pancreas, Skin

Publications for Chromosome 1p36 Deletion Syndrome

Articles related to Chromosome 1p36 Deletion Syndrome:

(show all 38)
# Title Authors Year
1
A Novel Case of Biliary Atresia in a Premature Neonate With 1p36 Deletion Syndrome. ( 30057923 )
2018
2
Cutis laxa in a patient with 1p36 deletion syndrome. ( 29611295 )
2018
3
Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review. ( 29212048 )
2018
4
Abdominal paraganglioma in a young woman with 1p36 deletion syndrome. ( 27774766 )
2017
5
Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay. ( 26893599 )
2016
6
1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis. ( 28018437 )
2016
7
Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. ( 27467454 )
2016
8
Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications. ( 25172301 )
2015
9
1p36 deletion syndrome: an update. ( 26345236 )
2015
10
Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype. ( 24479866 )
2014
11
Left ventricular noncompaction cardiomyopathy: adult association with 1p36 deletion syndrome. ( 25624984 )
2014
12
Novel airway findings in a patient with 1p36 deletion syndrome. ( 24290305 )
2014
13
Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome. ( 24311364 )
2014
14
Loss of PRDM16 is unlikely to cause cardiomyopathy in 1p36 deletion syndrome. ( 24387995 )
2014
15
Dermatitis artefacta presenting as a recurrent skin eruption in a patient with 1p36 deletion syndrome. ( 24433376 )
2014
16
Growth patterns of patients with 1p36 deletion syndrome. ( 24750553 )
2014
17
Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome. ( 24985706 )
2014
18
Clinical presentation of two β-thalassemic Indian patients with 1p36 deletion syndrome: Case report. ( 27625875 )
2014
19
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. ( 23768516 )
2013
20
Multiple causes of apnea in 1p36 deletion syndrome include seizures. ( 22425009 )
2012
21
Dying at 23 with 1p36 deletion syndrome: Laura's family story. ( 24020340 )
2012
22
Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome. ( 20708863 )
2011
23
Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome. ( 21480478 )
2011
24
A case of 1p36 deletion syndrome accompanied with anomalous arrangement of the pancreaticobiliary duct. ( 21160384 )
2011
25
Chromosome 1p36 deletion syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings. ( 21199750 )
2010
26
1p36 deletion syndrome associated with Prader-Willi-like phenotype. ( 20113418 )
2010
27
Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2). ( 18835671 )
2009
28
Spectrum of epilepsy in terminal 1p36 deletion syndrome. ( 18031548 )
2008
29
Monosomy 1p36 deletion syndrome. ( 17918734 )
2007
30
Pemphigus vulgaris in a patient with 1p36 deletion syndrome. ( 17052548 )
2006
31
1p36 deletion syndrome with intestinal malrotation and annular pancreas. ( 15717182 )
2005
32
FISH analysis of hematological neoplasias with 1p36 rearrangements allows the definition of a cluster of 2.5 Mb included in the minimal region deleted in 1p36 deletion syndrome. ( 15744521 )
2005
33
Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome. ( 16023556 )
2005
34
Revisit on a distinctive chromosome 1p36 deletion syndrome: report of one case and review of the English literature. ( 15301904 )
2004
35
A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy. ( 12376748 )
2002
36
Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice. ( 11731796 )
2002
37
Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome. ( 11580756 )
2001
38
Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions. ( 9931339 )
1999

Variations for Chromosome 1p36 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 1p36 Deletion Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 subset of 99 genes:GNB1 GRCh37/hg19 1p36.33-36.31(chr1: 823964-6828363) copy number loss Pathogenic GRCh37 Chromosome 1, 823964: 6828363
2 subset of 73 genes:GNB1 GRCh37/hg19 1p36.33-36.32(chr1: 568708-3662949) copy number loss Pathogenic GRCh37 Chromosome 1, 568708: 3662949
3 subset of 64 genes:GNB1 GRCh37/hg19 1p36.33-36.32(chr1: 568708-2567832) copy number loss Pathogenic GRCh37 Chromosome 1, 568708: 2567832

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

7
# CNVD ID Chromosom 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

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 postsynaptic density GO:0014069 9.26 KCNAB2 KLHL17 MAGI2 PRKCZ
2 cell junction GO:0030054 9.1 AJAP1 GABRD KCNAB2 KLHL17 MAGI2 PRKCZ

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

# Name GO ID Score Top Affiliating Genes
1 histone lysine methylation GO:0034968 8.96 PRDM16 PRDM6
2 negative regulation of activin receptor signaling pathway GO:0032926 8.62 MAGI2 SKI

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

# Name GO ID Score Top Affiliating Genes
1 histone-lysine N-methyltransferase activity GO:0018024 9.16 PRDM16 PRDM6
2 potassium channel regulator activity GO:0015459 8.96 KCNAB2 PRKCZ
3 SMAD binding GO:0046332 8.8 MAGI2 PRDM16 SKI

Sources for Chromosome 1p36 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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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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