MCID: CHR222
MIFTS: 31

Chromosome 1p36 Deletion Syndrome malady

Rare diseases category

Aliases & Classifications for Chromosome 1p36 Deletion Syndrome

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Chromosome 1p36 Deletion Syndrome, Aliases & Descriptions:

Name: Chromosome 1p36 Deletion Syndrome 45 10 41 22 60
Subtelomeric 1p36 Deletion 41
1p36 Deletion Syndrome 41
Monosomy 1p36 Syndrome 41
Monosomy 1pter 41
 
Deletion 1pter 41
Monosomy 1p36 41
Deletion 1p36 41
Del(1)(p36) 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


External Ids:

OMIM45 607872

Summaries for Chromosome 1p36 Deletion Syndrome

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NIH Rare Diseases:41 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. last updated: 6/30/2011

MalaCards based summary: Chromosome 1p36 Deletion Syndrome, also known as subtelomeric 1p36 deletion, is related to 1p36 deletion syndrome and lysosomal storage disease, and has symptoms including global developmental delay, muscular hypotonia and short 5th finger. An important gene associated with Chromosome 1p36 Deletion Syndrome is DEL1P36 (Chromosome 1p36 deletion syndrome). Affiliated tissues include kidney, brain and heart.

OMIM:45 The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental... (607872) more...

Related Diseases for Chromosome 1p36 Deletion Syndrome

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Diseases related to Chromosome 1p36 Deletion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
idRelated DiseaseScoreTop Affiliating Genes
11p36 deletion syndrome10.6
2lysosomal storage disease10.2
3morbid obesity10.2
4smith-magenis syndrome10.2
5obesity10.2
6pemphigus vulgaris10.2
7pemphigus10.2
8hyperinsulinism10.2
9dermatitis10.2
10myopathy10.2
11congenital fiber-type disproportion10.2
12polymicrogyria10.2
13annular pancreas10.2
14left ventricular noncompaction10.2
15mental retardation10.2
16angelman syndrome10.2
17aicardi syndrome10.2
18duodenitis10.2
19duodenal atresia10.2

Graphical network of diseases related to Chromosome 1p36 Deletion Syndrome:



Diseases related to chromosome 1p36 deletion syndrome

Symptoms for Chromosome 1p36 Deletion Syndrome

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Symptoms by clinical synopsis from OMIM:

607872

Clinical features from OMIM:

607872

HPO human phenotypes related to Chromosome 1p36 Deletion Syndrome:

(show all 97)
id Description Frequency HPO Source Accession
1 global developmental delay 30% HP:0001263
2 muscular hypotonia 26% HP:0001252
3 short 5th finger 26% HP:0009237
4 deeply set eye 24% HP:0000490
5 depressed nasal bridge 23% HP:0005280
6 wide anterior fontanel 22% HP:0000260
7 pointed chin 20% HP:0000307
8 depressed nasal ridge 20% HP:0000457
9 hypermetropia 20% HP:0000540
10 brachycephaly 18% HP:0000248
11 microcephaly 18% HP:0000252
12 thickened helices 16% HP:0000391
13 asymmetry of the ears 16% HP:0010722
14 seizures 15% HP:0001250
15 clinodactyly of the 5th finger 12% HP:0004209
16 strabismus 9% HP:0000486
17 posteriorly rotated ears 7% HP:0000358
18 dilated cardiomyopathy 7% HP:0001644
19 myopia rare (5%) HP:0000545
20 patent ductus arteriosus rare (5%) HP:0001643
21 nystagmus 4% HP:0000639
22 ventricular septal defect 4% HP:0001629
23 aortic root dilatation 3% HP:0002616
24 bicuspid aortic valve 2% HP:0001647
25 ebstein's anomaly of the tricuspid valve very rare (1%) HP:0010316
26 cryptorchidism HP:0000028
27 hypospadias HP:0000047
28 abnormality of the kidney HP:0000077
29 submucous cleft hard palate HP:0000176
30 bifid uvula HP:0000193
31 cleft upper lip HP:0000204
32 high palate HP:0000218
33 hydrocephalus HP:0000238
34 malar flattening HP:0000272
35 epicanthus HP:0000286
36 hypertelorism HP:0000316
37 long philtrum HP:0000343
38 low-set ears HP:0000369
39 conductive hearing impairment HP:0000405
40 sensorineural hearing impairment HP:0000407
41 downslanted palpebral fissures HP:0000494
42 visual impairment HP:0000505
43 cataract HP:0000518
44 optic disc pallor HP:0000543
45 blepharophimosis HP:0000581
46 upslanted palpebral fissure HP:0000582
47 optic nerve coloboma HP:0000588
48 optic atrophy HP:0000648
49 synophrys HP:0000664
50 aggressive behavior HP:0000718
51 impaired social interactions HP:0000735
52 self-mutilation HP:0000742
53 delayed speech and language development HP:0000750
54 congenital hypothyroidism HP:0000851
55 11 pairs of ribs HP:0000878
56 bifid ribs HP:0000892
57 rib fusion HP:0000902
58 brachydactyly syndrome HP:0001156
59 intellectual disability HP:0001249
60 agenesis of corpus callosum HP:0001274
61 pachygyria HP:0001302
62 hip dysplasia HP:0001385
63 delayed closure of the anterior fontanelle HP:0001476
64 growth delay HP:0001510
65 obesity HP:0001513
66 patent foramen ovale HP:0001655
67 pes cavus HP:0001761
68 short foot HP:0001773
69 metatarsus adductus HP:0001840
70 frontal bossing HP:0002007
71 dysphagia HP:0002015
72 constipation HP:0002019
73 gastroesophageal reflux HP:0002020
74 hypoplasia of the corpus callosum HP:0002079
75 abnormal lung lobation HP:0002101
76 cerebral cortical atrophy HP:0002120
77 polymicrogyria HP:0002126
78 delayed cns myelination HP:0002188
79 leukoencephalopathy HP:0002352
80 hypsarrhythmia HP:0002521
81 polyphagia HP:0002591
82 scoliosis HP:0002650
83 delayed skeletal maturation HP:0002750
84 phenotypic variability HP:0003812
85 abnormality of the anus HP:0004378
86 cranial nerve vi palsy HP:0006897
87 dilation of lateral ventricles HP:0006956
88 microtia HP:0008551
89 feeding difficulties in infancy HP:0008872
90 abnormality of the hairline HP:0009553
91 oppositional defiant disorder HP:0010865
92 prominent forehead HP:0011220
93 horizontal eyebrow HP:0011228
94 midface retrusion HP:0011800
95 infantile spasms HP:0012469
96 noncompaction cardiomyopathy HP:0012817
97 camptodactyly of finger HP:0100490

Drugs & Therapeutics for Chromosome 1p36 Deletion Syndrome

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Drug clinical trials:

Search ClinicalTrials for Chromosome 1p36 Deletion Syndrome

Search NIH Clinical Center for Chromosome 1p36 Deletion Syndrome

Genetic Tests for Chromosome 1p36 Deletion Syndrome

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Genetic tests related to Chromosome 1p36 Deletion Syndrome:

id Genetic test Affiliating Genes
1 Chromosome 1p36 Deletion Syndrome22

Anatomical Context for Chromosome 1p36 Deletion Syndrome

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

31
Kidney, Brain, Heart, Eye, Lung

Animal Models for Chromosome 1p36 Deletion Syndrome or affiliated genes

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Publications for Chromosome 1p36 Deletion Syndrome

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Articles related to Chromosome 1p36 Deletion Syndrome:

idTitleAuthorsYear
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

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Expression for genes affiliated with Chromosome 1p36 Deletion Syndrome

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Search GEO for disease gene expression data for Chromosome 1p36 Deletion Syndrome.

Pathways for genes affiliated with Chromosome 1p36 Deletion Syndrome

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Compounds for genes affiliated with Chromosome 1p36 Deletion Syndrome

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GO Terms for genes affiliated with Chromosome 1p36 Deletion Syndrome

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Products for genes affiliated with Chromosome 1p36 Deletion Syndrome

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Sources for Chromosome 1p36 Deletion Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet