MCID: CHR222
MIFTS: 46

Chromosome 1p36 Deletion Syndrome

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

Aliases & Classifications for Chromosome 1p36 Deletion Syndrome

MalaCards integrated aliases for Chromosome 1p36 Deletion Syndrome:

Name: Chromosome 1p36 Deletion Syndrome 54 12 50 25 29 13 42 14 69
1p36 Deletion Syndrome 12 72 23 50 24 25 56
Monosomy 1p36 Syndrome 23 50 24 25
Subtelomeric 1p36 Deletion 12 56
Deletion 1p36 12 56
Monosomy 1p36 12 56
Deletion 1p36 Syndrome 24
Distal Monosomy 1p36 25
Deletion 1pter 56
Monosomy 1pter 56
Del(1)(p36) 56

Characteristics:

Orphanet epidemiological data:

56
1p36 deletion syndrome
Inheritance: Not applicable; Prevalence: 1-5/10000 (United States); Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM:

54
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 54 607872
Disease Ontology 12 DOID:0060410
MeSH 42 C535362
NCIt 47 C74983
SNOMED-CT 64 699306003
Orphanet 56 ORPHA1606
UMLS via Orphanet 70 C1842870
ICD10 via Orphanet 34 Q93.5
UMLS 69 C1842870

Summaries for Chromosome 1p36 Deletion Syndrome

NIH Rare Diseases : 50 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 epilepsy, and has symptoms including short stature, failure to thrive and scoliosis. 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 : 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).

OMIM : 54
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 : 72 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 17)
id Related Disease Score Top Affiliating Genes
1 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 10.9
2 epilepsy 10.0
3 lysosomal storage disease 10.0
4 cardiomyopathy 9.9
5 duodenal atresia 9.9
6 duodenitis 9.9
7 chicken egg allergy 9.7 LUZP1 PRDM16 PRDM6
8 obesity 9.7
9 smith-magenis syndrome 9.7
10 pemphigus vulgaris 9.7
11 left ventricular noncompaction 9.7
12 congenital fiber-type disproportion 9.7
13 hyperinsulinism 9.7
14 dermatitis 9.7
15 myopathy 9.7
16 pemphigus 9.7
17 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:

54

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

Neurologic- Central Nervous System:
hypotonia
mental retardation
ventriculomegaly
cerebral atrophy
seizures
more
Skeletal- Feet:
brachydactyly
pes cavus
prominent heels
short feet

Head And Neck- Eyes:
nystagmus
strabismus
myopia
epicanthal folds
deep-set eyes
more
Head And Neck- Ears:
low-set ears
posteriorly rotated ears
sensorineural hearing loss
thickened helices
asymmetric ears

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

Skeletal:
flexion contractures

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

Growth- Other:
growth retardation, pre- and postnatal

Growth- Weight:
obesity (after infancy)

Skeletal- Spine:
scoliosis

Head And Neck- Nose:
flat nasal bridge
flat nose

Skeletal- Hands:
brachydactyly
fifth finger clinodactyly
short fifth finger

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

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

Cardiovascular- Vascular:
patent ductus arteriosus
dilated aortic root

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

Endocrine Features:
hypothyroidism

Neurologic- Behavioral Psychiatric Manifestations:
hyperphagia
behavioral disorders

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:

56 32 (show top 50) (show all 149)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
2 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
3 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
4 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
5 optic atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000648
6 nystagmus 56 32 very rare (1%) Occasional (29-5%) HP:0000639
7 dysphagia 56 32 frequent (33%) Frequent (79-30%) HP:0002015
8 strabismus 56 32 very rare (1%) Frequent (79-30%) HP:0000486
9 ventriculomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0002119
10 absent speech 56 32 hallmark (90%) Very frequent (99-80%) HP:0001344
11 seizures 56 32 very rare (1%) Frequent (79-30%) HP:0001250
12 microcephaly 56 32 very rare (1%) Frequent (79-30%) HP:0000252
13 depressed nasal bridge 56 32 very rare (1%) Frequent (79-30%) HP:0005280
14 kyphosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002808
15 patent ductus arteriosus 56 32 very rare (1%) Occasional (29-5%) HP:0001643
16 hypospadias 56 32 occasional (7.5%) Occasional (29-5%) HP:0000047
17 frontal bossing 56 32 occasional (7.5%) Occasional (29-5%) HP:0002007
18 global developmental delay 56 32 very rare (1%) Very frequent (99-80%) HP:0001263
19 dilated cardiomyopathy 56 32 very rare (1%) Occasional (29-5%) HP:0001644
20 hydronephrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000126
21 gastroesophageal reflux 56 32 frequent (33%) Frequent (79-30%) HP:0002020
22 cryptorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000028
23 bifid ribs 56 32 occasional (7.5%) Occasional (29-5%) HP:0000892
24 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
25 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
26 tetralogy of fallot 56 32 occasional (7.5%) Occasional (29-5%) HP:0001636
27 autism 56 32 frequent (33%) Frequent (79-30%) HP:0000717
28 poor speech 56 32 hallmark (90%) Very frequent (99-80%) HP:0002465
29 myopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0003198
30 long philtrum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000343
31 agenesis of corpus callosum 56 32 hallmark (90%) Very frequent (99-80%) HP:0001274
32 cerebral cortical atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0002120
33 wide nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000431
34 constipation 56 32 frequent (33%) Frequent (79-30%) HP:0002019
35 pointed chin 56 32 very rare (1%) Very frequent (99-80%) HP:0000307
36 brachycephaly 56 32 very rare (1%) Frequent (79-30%) HP:0000248
37 hypogonadism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000135
38 hepatic steatosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001397
39 joint stiffness 56 32 occasional (7.5%) Occasional (29-5%) HP:0001387
40 midface retrusion 56 32 hallmark (90%) Very frequent (99-80%) HP:0011800
41 self-injurious behavior 56 32 frequent (33%) Frequent (79-30%) HP:0100716
42 low-set, posteriorly rotated ears 56 32 frequent (33%) Frequent (79-30%) HP:0000368
43 11 pairs of ribs 56 32 occasional (7.5%) Occasional (29-5%) HP:0000878
44 obesity 56 32 occasional (7.5%) Occasional (29-5%) HP:0001513
45 hypothyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000821
46 annular pancreas 56 32 occasional (7.5%) Occasional (29-5%) HP:0001734
47 epicanthus 56 32 frequent (33%) Frequent (79-30%) HP:0000286
48 muscular hypotonia 56 32 very rare (1%) Very frequent (99-80%) HP:0001252
49 feeding difficulties in infancy 56 32 frequent (33%) Frequent (79-30%) HP:0008872
50 neuroblastoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0003006

UMLS symptoms related to Chromosome 1p36 Deletion Syndrome:


seizures

MGI Mouse Phenotypes related to Chromosome 1p36 Deletion Syndrome:

44
id 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:


id 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:

id Genetic test Affiliating Genes
1 Chromosome 1p36 Deletion Syndrome 29
2 1p36 Deletion Syndrome 24

Anatomical Context for Chromosome 1p36 Deletion Syndrome

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

39
Brain, Heart, Eye, Kidney, Bone, Pancreas, Skin

Publications for Chromosome 1p36 Deletion Syndrome

Articles related to Chromosome 1p36 Deletion Syndrome:

id 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
id 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:

id 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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....