MCID: CHR222
MIFTS: 43

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 57 12 53 25 29 13 44 15 73
1p36 Deletion Syndrome 12 76 24 53 25 59 37
Monosomy 1p36 Syndrome 57 24 53 25
Subtelomeric 1p36 Deletion 12 59
Deletion 1p36 12 59
Monosomy 1p36 12 59
Distal Monosomy 1p36 25
Deletion 1pter 59
Monosomy 1pter 59
Del(1)(p36) 59

Characteristics:

Orphanet epidemiological data:

59
1p36 deletion syndrome
Inheritance: Not applicable; Prevalence: 1-5/10000 (United States); Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM:

57
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:

32
chromosome 1p36 deletion syndrome:
Onset and clinical course phenotypic variability
Inheritance sporadic


Classifications:



External Ids:

OMIM 57 607872
Disease Ontology 12 DOID:0060410
MeSH 44 C535362
NCIt 50 C74983
SNOMED-CT 68 699306003
Orphanet 59 ORPHA1606
UMLS via Orphanet 74 C1842870
ICD10 via Orphanet 34 Q93.5
MedGen 42 C1842870
KEGG 37 H01792
UMLS 73 C1842870

Summaries for Chromosome 1p36 Deletion Syndrome

NIH Rare Diseases : 53 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 lysosomal storage disease, and has symptoms including seizures 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 agenesis of corpus callosum and obesity

OMIM : 57 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)

Genetics Home Reference : 25 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).

Wikipedia : 76 1p36 deletion syndrome (also known as monosomy 1p36) is a congenital genetic disorder characterized by... more...

GeneReviews: NBK1191

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 all 24)
# Related Disease Score Top Affiliating Genes
1 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 11.0
2 lysosomal storage disease 10.0
3 epilepsy 10.0
4 morbid obesity 9.9
5 angelman syndrome 9.9
6 duodenal atresia 9.9
7 cantu syndrome 9.9
8 aicardi syndrome 9.9
9 pancreas, annular 9.7
10 pemphigus vulgaris, familial 9.7
11 prader-willi syndrome 9.7
12 smith-magenis syndrome 9.7
13 myopathy, congenital, with fiber-type disproportion 9.7
14 pemphigus vulgaris 9.7
15 paraganglioma 9.7
16 left ventricular noncompaction 9.7
17 congenital fiber-type disproportion 9.7
18 hyperinsulinism 9.7
19 infantile epileptic encephalopathy 9.7
20 dermatitis 9.7
21 cutis laxa 9.7
22 myopathy 9.7
23 pemphigus 9.7
24 polymicrogyria 9.7

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:

57
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
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:

59 32 (show top 50) (show all 154)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0001274
2 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
3 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
4 nystagmus 59 32 very rare (1%) Occasional (29-5%) HP:0000639
5 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
6 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
7 seizures 59 32 very rare (1%) Frequent (79-30%) HP:0001250
8 muscular hypotonia 59 32 very rare (1%) Very frequent (99-80%) HP:0001252
9 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
10 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
11 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
12 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
13 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
14 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
15 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
16 self-injurious behavior 59 32 frequent (33%) Frequent (79-30%) HP:0100716
17 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
18 global developmental delay 59 32 very rare (1%) Very frequent (99-80%) HP:0001263
19 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
20 depressed nasal bridge 59 32 very rare (1%) Frequent (79-30%) HP:0005280
21 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
22 delayed speech and language development 59 32 Very frequent (99-80%) HP:0000750
23 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
24 microtia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008551
25 microcephaly 59 32 very rare (1%) Frequent (79-30%) HP:0000252
26 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
27 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
28 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
29 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
30 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
31 feeding difficulties in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0008872
32 stereotypy 59 32 frequent (33%) Frequent (79-30%) HP:0000733
33 myopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003198
34 cranial nerve paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0006824
35 brachycephaly 59 32 very rare (1%) Frequent (79-30%) HP:0000248
36 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
37 abnormal blistering of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0008066
38 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
39 strabismus 59 32 very rare (1%) Frequent (79-30%) HP:0000486
40 patent ductus arteriosus 59 32 very rare (1%) Occasional (29-5%) HP:0001643
41 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
42 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230
43 short foot 59 32 hallmark (90%) Very frequent (99-80%) HP:0001773
44 absent speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0001344
45 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
46 autism 59 32 frequent (33%) Frequent (79-30%) HP:0000717
47 hepatic steatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001397
48 ventriculomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002119
49 cerebral cortical atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002120
50 hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000135

UMLS symptoms related to Chromosome 1p36 Deletion Syndrome:


seizures

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 29

Anatomical Context for Chromosome 1p36 Deletion Syndrome

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

41
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 cell junction GO:0030054 9.1 AJAP1 GABRD KCNAB2 KLHL17 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 8.96 PRDM16 PRDM6
2 cell motility GO:0048870 8.62 SKI SRPX2

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 8.96 PRDM16 PRDM6
2 potassium channel regulator activity GO:0015459 8.62 KCNAB2 PRKCZ

Sources for Chromosome 1p36 Deletion Syndrome

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
Content
Loading form....