MCID: CHR222
MIFTS: 41

Chromosome 1p36 Deletion Syndrome malady

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

Aliases & Classifications for Chromosome 1p36 Deletion Syndrome

Aliases & Descriptions for Chromosome 1p36 Deletion Syndrome:

Name: Chromosome 1p36 Deletion Syndrome 54 12 50 25 29 13 42 14 69
1p36 Deletion Syndrome 12 71 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;

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 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. 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 epilepsy 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.

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... (607872) more...

Wikipedia : 71 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 16)
id Related Disease Score Top Affiliating Genes
1 epilepsy 10.0
2 lysosomal storage disease 10.0
3 pollen allergy 9.9 LUZP1 PRDM16 PRDM6
4 cardiomyopathy 9.9
5 duodenal atresia 9.9
6 duodenitis 9.9
7 pemphigus 9.7
8 polymicrogyria 9.7
9 obesity 9.7
10 smith-magenis syndrome 9.7
11 pemphigus vulgaris 9.7
12 left ventricular noncompaction 9.7
13 congenital fiber-type disproportion 9.7
14 hyperinsulinism 9.7
15 dermatitis 9.7
16 myopathy 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 by clinical synopsis from OMIM:

607872

Clinical features from OMIM:

607872

Human phenotypes related to Chromosome 1p36 Deletion Syndrome:

56 32 (show top 50) (show all 148)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 56 32 Frequent (79-30%) HP:0002019
2 seizures 56 32 Frequent (79-30%) HP:0001250
3 joint stiffness 56 32 Occasional (29-5%) HP:0001387
4 macule 56 32 Occasional (29-5%) HP:0012733
5 agenesis of corpus callosum 56 32 Very frequent (99-80%) HP:0001274
6 obesity 56 32 Occasional (29-5%) HP:0001513
7 frontal bossing 56 32 Occasional (29-5%) HP:0002007
8 nystagmus 56 32 Occasional (29-5%) HP:0000639
9 hypothyroidism 56 32 Occasional (29-5%) HP:0000821
10 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
11 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
12 gait disturbance 56 32 Very frequent (99-80%) HP:0001288
13 failure to thrive 56 32 Very frequent (99-80%) HP:0001508
14 dysphagia 56 32 Frequent (79-30%) HP:0002015
15 eeg abnormality 56 32 Very frequent (99-80%) HP:0002353
16 scoliosis 56 32 Occasional (29-5%) HP:0002650
17 kyphosis 56 32 Occasional (29-5%) HP:0002808
18 self-injurious behavior 56 32 Frequent (79-30%) HP:0100716
19 cataract 56 32 Occasional (29-5%) HP:0000518
20 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
21 hip dysplasia 56 32 Occasional (29-5%) HP:0001385
22 depressed nasal bridge 56 32 Frequent (79-30%) HP:0005280
23 wide nasal bridge 56 32 Very frequent (99-80%) HP:0000431
24 delayed speech and language development 56 32 Very frequent (99-80%) HP:0000750
25 microtia 56 32 Occasional (29-5%) HP:0008551
26 microcephaly 56 32 Frequent (79-30%) HP:0000252
27 sensorineural hearing impairment 56 32 Occasional (29-5%) HP:0000407
28 visual impairment 56 32 Occasional (29-5%) HP:0000505
29 optic atrophy 56 32 Occasional (29-5%) HP:0000648
30 short stature 56 32 Occasional (29-5%) HP:0004322
31 gastroesophageal reflux 56 32 Frequent (79-30%) HP:0002020
32 feeding difficulties in infancy 56 32 Frequent (79-30%) HP:0008872
33 stereotypy 56 32 Frequent (79-30%) HP:0000733
34 myopathy 56 32 Occasional (29-5%) HP:0003198
35 cranial nerve paralysis 56 32 Occasional (29-5%) HP:0006824
36 brachycephaly 56 32 Frequent (79-30%) HP:0000248
37 long philtrum 56 32 Very frequent (99-80%) HP:0000343
38 abnormal blistering of the skin 56 32 Occasional (29-5%) HP:0008066
39 hemiplegia/hemiparesis 56 32 Occasional (29-5%) HP:0004374
40 abnormality of the heart valves 56 32 Occasional (29-5%) HP:0001654
41 strabismus 56 32 Frequent (79-30%) HP:0000486
42 patent ductus arteriosus 56 32 Occasional (29-5%) HP:0001643
43 epicanthus 56 32 Frequent (79-30%) HP:0000286
44 generalized hirsutism 56 32 Occasional (29-5%) HP:0002230
45 short foot 56 32 Very frequent (99-80%) HP:0001773
46 absent speech 56 32 Very frequent (99-80%) HP:0001344
47 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
48 autism 56 32 Frequent (79-30%) HP:0000717
49 hepatic steatosis 56 32 Occasional (29-5%) HP:0001397
50 dilatation of the aortic arch 56 32 Occasional (29-5%) HP:0005113

UMLS symptoms related to Chromosome 1p36 Deletion Syndrome:


seizures

Drugs & Therapeutics for Chromosome 1p36 Deletion Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
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, Skin, Pancreas

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 9.26 GABRD KCNAB2 KLHL17 SRPX2
2 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 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
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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