MCID: CHR222
MIFTS: 46

Chromosome 1p36 Deletion Syndrome

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

Aliases & Classifications for Chromosome 1p36 Deletion Syndrome

MalaCards integrated aliases for Chromosome 1p36 Deletion Syndrome:

Name: Chromosome 1p36 Deletion Syndrome 53 12 49 24 28 13 41 14 69
1p36 Deletion Syndrome 12 72 23 49 24 55 36
Monosomy 1p36 Syndrome 53 23 49 24
Subtelomeric 1p36 Deletion 12 55
Deletion 1p36 12 55
Monosomy 1p36 12 55
Distal Monosomy 1p36 24
Deletion 1pter 55
Monosomy 1pter 55
Del(1)(p36) 55

Characteristics:

Orphanet epidemiological data:

55
1p36 deletion syndrome
Inheritance: Not applicable; Prevalence: 1-5/10000 (United States); Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM:

53
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:

31
chromosome 1p36 deletion syndrome:
Onset and clinical course phenotypic variability
Inheritance sporadic


Classifications:



External Ids:

OMIM 53 607872
Disease Ontology 12 DOID:0060410
MeSH 41 C535362
NCIt 46 C74983
SNOMED-CT 64 699306003
Orphanet 55 ORPHA1606
UMLS via Orphanet 70 C1842870
ICD10 via Orphanet 33 Q93.5
MedGen 39 C1842870
KEGG 36 H01792
UMLS 69 C1842870

Summaries for Chromosome 1p36 Deletion Syndrome

NIH Rare Diseases : 49 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. Last updated: 4/18/2016

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 lysosomal storage disease, and has symptoms including constipation, seizures and joint stiffness. An important gene associated with Chromosome 1p36 Deletion Syndrome is DEL1P36 (Chromosome 1p36 Deletion Syndrome). Affiliated tissues include brain, heart and eye, and related phenotypes are cardiovascular system and mortality/aging

Genetics Home Reference : 24 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 : 53 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)

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

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
hydrocephalus
global developmental delay
ventriculomegaly
pachygyria
more
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 RibsSternum Clavicles And Scapulae:
bifid ribs
missing ribs
fused ribs

Skeletal:
flexion contractures

Abdomen Gastroin testinal:
feeding problems (infancy)
gastroesophageal reflux (infancy)

Growth Other:
growth retardation, pre- and postnatal

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

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
dilated cardiomyopathy (infancy)
noncompaction cardiomyopathy

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

Human phenotypes related to Chromosome 1p36 Deletion Syndrome:

55 31 (show top 50) (show all 153)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 55 31 frequent (33%) Frequent (79-30%) HP:0002019
2 seizures 55 31 very rare (1%) Frequent (79-30%) HP:0001250
3 joint stiffness 55 31 occasional (7.5%) Occasional (29-5%) HP:0001387
4 macule 55 31 occasional (7.5%) Occasional (29-5%) HP:0012733
5 agenesis of corpus callosum 55 31 hallmark (90%) Very frequent (99-80%) HP:0001274
6 obesity 55 31 occasional (7.5%) Occasional (29-5%) HP:0001513
7 frontal bossing 55 31 occasional (7.5%) Occasional (29-5%) HP:0002007
8 nystagmus 55 31 very rare (1%) Occasional (29-5%) HP:0000639
9 hypothyroidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000821
10 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
11 muscular hypotonia 55 31 very rare (1%) Very frequent (99-80%) HP:0001252
12 gait disturbance 55 31 hallmark (90%) Very frequent (99-80%) HP:0001288
13 failure to thrive 55 31 hallmark (90%) Very frequent (99-80%) HP:0001508
14 dysphagia 55 31 frequent (33%) Frequent (79-30%) HP:0002015
15 eeg abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0002353
16 scoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002650
17 kyphosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002808
18 self-injurious behavior 55 31 frequent (33%) Frequent (79-30%) HP:0100716
19 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
20 global developmental delay 55 31 very rare (1%) Very frequent (99-80%) HP:0001263
21 hip dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001385
22 depressed nasal bridge 55 31 very rare (1%) Frequent (79-30%) HP:0005280
23 wide nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000431
24 delayed speech and language development 55 31 Very frequent (99-80%) HP:0000750
25 microtia 55 31 occasional (7.5%) Occasional (29-5%) HP:0008551
26 microcephaly 55 31 very rare (1%) Frequent (79-30%) HP:0000252
27 sensorineural hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000407
28 visual impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000505
29 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
30 short stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0004322
31 gastroesophageal reflux 55 31 frequent (33%) Frequent (79-30%) HP:0002020
32 feeding difficulties in infancy 55 31 frequent (33%) Frequent (79-30%) HP:0008872
33 stereotypy 55 31 frequent (33%) Frequent (79-30%) HP:0000733
34 myopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0003198
35 cranial nerve paralysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0006824
36 brachycephaly 55 31 very rare (1%) Frequent (79-30%) HP:0000248
37 long philtrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000343
38 abnormal blistering of the skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0008066
39 hemiplegia/hemiparesis 55 31 occasional (7.5%) Occasional (29-5%) HP:0004374
40 strabismus 55 31 very rare (1%) Frequent (79-30%) HP:0000486
41 patent ductus arteriosus 55 31 very rare (1%) Occasional (29-5%) HP:0001643
42 epicanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000286
43 generalized hirsutism 55 31 occasional (7.5%) Occasional (29-5%) HP:0002230
44 short foot 55 31 hallmark (90%) Very frequent (99-80%) HP:0001773
45 absent speech 55 31 hallmark (90%) Very frequent (99-80%) HP:0001344
46 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000028
47 autism 55 31 frequent (33%) Frequent (79-30%) HP:0000717
48 hepatic steatosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001397
49 ventriculomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0002119
50 cerebral cortical atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0002120

UMLS symptoms related to Chromosome 1p36 Deletion Syndrome:


seizures

MGI Mouse Phenotypes related to Chromosome 1p36 Deletion Syndrome:

43
# 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 PRDM16 PRKCZ RERE SKI GABRD HIRA

Drugs & Therapeutics for Chromosome 1p36 Deletion Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) 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 28

Anatomical Context for Chromosome 1p36 Deletion Syndrome

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

38
Brain, Heart, Eye, Kidney, Bone, Skin, Pancreas

Publications for Chromosome 1p36 Deletion Syndrome

Articles related to Chromosome 1p36 Deletion Syndrome:

# Title Authors Year
1
Chromosome 1p36 deletion syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings. ( 21199750 )
2010
2
Revisit on a distinctive chromosome 1p36 deletion syndrome: report of one case and review of the English literature. ( 15301904 )
2004

Variations for Chromosome 1p36 Deletion Syndrome

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 synapse GO:0045202 9.35 GABRD KCNAB2 KLHL17 MAGI2 SRPX2
2 cell junction GO:0030054 9.1 GABRD KCNAB2 KLHL17 MAGI2 PRKCZ SRPX2

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 9.16 PRDM16 PRDM6
2 cell motility GO:0048870 8.96 SKI SRPX2
3 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 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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