MCID: CHR222
MIFTS: 41

Chromosome 1p36 Deletion Syndrome malady

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

Aliases & Classifications for Chromosome 1p36 Deletion Syndrome

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Aliases & Descriptions for Chromosome 1p36 Deletion Syndrome:

Name: Chromosome 1p36 Deletion Syndrome 52 11 48 25 27 12 39 13 68
1p36 Deletion Syndrome 11 71 23 48 24 25 54
Monosomy 1p36 Syndrome 23 48 24 25
Subtelomeric 1p36 Deletion 11 54
Monosomy 1p36 11 54
Deletion 1p36 11 54
 
Deletion 1p36 Syndrome 24
Distal Monosomy 1p36 25
Monosomy 1pter 54
Deletion 1pter 54
Del(1)(p36) 54

Characteristics:

Orphanet epidemiological data:

54
1p36 deletion syndrome:
Inheritance: Not applicable; Prevalence: 1-5/10000 (United States); Age of onset: Antenatal,Neonatal; Age of death: any age

HPO:

64
chromosome 1p36 deletion syndrome:
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM52 607872
Disease Ontology11 DOID:0060410
MeSH39 C535362
NCIt45 C74983
SNOMED-CT62 699306003
Orphanet54 ORPHA1606
UMLS via Orphanet69 C1842870
ICD10 via Orphanet31 Q93.5

Summaries for Chromosome 1p36 Deletion Syndrome

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NIH Rare Diseases:48 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 malar flattening, abnormality of the mandible and pointed chin. 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:52 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 for NBK1191

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 16)
idRelated DiseaseScoreTop Affiliating Genes
1epilepsy10.0
2lysosomal storage disease10.0
3cardiomyopathy9.9
4duodenal atresia9.9
5duodenitis9.9
6chicken egg allergy9.8LUZP1, PRDM16, PRDM6
7obesity9.7
8smith-magenis syndrome9.7
9pemphigus vulgaris9.7
10left ventricular noncompaction9.7
11congenital fiber-type disproportion9.7
12hyperinsulinism9.7
13dermatitis9.7
14myopathy9.7
15pemphigus9.7
16polymicrogyria9.7

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



Diseases related to chromosome 1p36 deletion syndrome

Symptoms & Phenotypes for Chromosome 1p36 Deletion Syndrome

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Symptoms by clinical synopsis from OMIM:

607872

Clinical features from OMIM:

607872

Human phenotypes related to Chromosome 1p36 Deletion Syndrome:

 64 54 (show all 162)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening64 hallmark (90%) HP:0000272
2 abnormality of the mandible64 hallmark (90%) HP:0000277
3 pointed chin64 54 hallmark (90%) Very frequent (99-80%) HP:0000307
4 long philtrum64 54 hallmark (90%) Very frequent (99-80%) HP:0000343
5 wide nasal bridge64 54 hallmark (90%) Very frequent (99-80%) HP:0000431
6 deeply set eye64 54 hallmark (90%) Very frequent (99-80%) HP:0000490
7 abnormality of the eyebrow64 54 hallmark (90%) Frequent (79-30%) HP:0000534
8 brachydactyly syndrome64 54 hallmark (90%) Very frequent (99-80%) HP:0001156
9 muscular hypotonia64 54 hallmark (90%) Very frequent (99-80%) HP:0001252
10 gait disturbance64 54 hallmark (90%) Very frequent (99-80%) HP:0001288
11 short toe64 hallmark (90%) HP:0001831
12 ventriculomegaly64 54 hallmark (90%) Very frequent (99-80%) HP:0002119
13 cerebral cortical atrophy64 54 hallmark (90%) Very frequent (99-80%) HP:0002120
14 neurological speech impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0002167
15 eeg abnormality64 54 hallmark (90%) Very frequent (99-80%) HP:0002353
16 aplasia/hypoplasia of the corpus callosum64 hallmark (90%) HP:0007370
17 camptodactyly of finger64 54 hallmark (90%) Very frequent (99-80%) HP:0100490
18 cognitive impairment64 hallmark (90%) HP:0100543
19 narrow mouth64 54 typical (50%) Frequent (79-30%) HP:0000160
20 abnormality of the fontanelles or cranial sutures64 typical (50%) HP:0000235
21 epicanthus64 54 typical (50%) Frequent (79-30%) HP:0000286
22 low-set, posteriorly rotated ears64 54 typical (50%) Frequent (79-30%) HP:0000368
23 depressed nasal ridge64 54 typical (50%) Frequent (79-30%) HP:0000457
24 strabismus64 54 typical (50%) Frequent (79-30%) HP:0000486
25 hypermetropia64 typical (50%) HP:0000540
26 autism64 54 typical (50%) Frequent (79-30%) HP:0000717
27 stereotypy64 54 typical (50%) Frequent (79-30%) HP:0000733
28 seizures64 54 typical (50%) Frequent (79-30%) HP:0001250
29 constipation64 54 typical (50%) Frequent (79-30%) HP:0002019
30 clinodactyly of the 5th finger64 54 typical (50%) Frequent (79-30%) HP:0004209
31 depressed nasal bridge64 54 typical (50%) Frequent (79-30%) HP:0005280
32 feeding difficulties in infancy64 54 typical (50%) Frequent (79-30%) HP:0008872
33 self-injurious behavior64 54 typical (50%) Frequent (79-30%) HP:0100716
34 global developmental delay64 54 30% Very frequent (99-80%) HP:0001263
35 short 5th finger64 26% HP:0009237
36 wide anterior fontanel64 22% HP:0000260
37 brachycephaly64 54 18% Frequent (79-30%) HP:0000248
38 microcephaly64 54 18% Frequent (79-30%) HP:0000252
39 thickened helices64 16% HP:0000391
40 asymmetry of the ears64 16% HP:0010722
41 cryptorchidism64 54 occasional (7.5%) Occasional (29-5%) HP:0000028
42 abnormality of female external genitalia64 54 occasional (7.5%) Occasional (29-5%) HP:0000055
43 renal cyst64 54 occasional (7.5%) Occasional (29-5%) HP:0000107
44 conductive hearing impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000405
45 sensorineural hearing impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000407
46 abnormality of the neck64 54 occasional (7.5%) Occasional (29-5%) HP:0000464
47 visual impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000505
48 cataract64 54 occasional (7.5%) Occasional (29-5%) HP:0000518
49 nystagmus64 54 occasional (7.5%) Occasional (29-5%) HP:0000639
50 optic atrophy64 54 occasional (7.5%) Occasional (29-5%) HP:0000648
51 abnormality of the ribs64 occasional (7.5%) HP:0000772
52 hypothyroidism64 54 occasional (7.5%) Occasional (29-5%) HP:0000821
53 hypertrichosis64 occasional (7.5%) HP:0000998
54 hypermelanotic macule64 occasional (7.5%) HP:0001034
55 ocular albinism64 54 occasional (7.5%) Occasional (29-5%) HP:0001107
56 hepatic steatosis64 54 occasional (7.5%) Occasional (29-5%) HP:0001397
57 obesity64 54 occasional (7.5%) Occasional (29-5%) HP:0001513
58 tetralogy of fallot64 54 occasional (7.5%) Occasional (29-5%) HP:0001636
59 hypertrophic cardiomyopathy64 occasional (7.5%) HP:0001639
60 patent ductus arteriosus64 54 occasional (7.5%) Occasional (29-5%) HP:0001643
61 abnormality of the heart valves64 54 occasional (7.5%) Occasional (29-5%) HP:0001654
62 abnormality of the cardiac septa64 54 occasional (7.5%) Occasional (29-5%) HP:0001671
63 abnormality of the aorta64 occasional (7.5%) HP:0001679
64 annular pancreas64 54 occasional (7.5%) Occasional (29-5%) HP:0001734
65 abnormality of the spleen64 54 occasional (7.5%) Occasional (29-5%) HP:0001743
66 foot polydactyly64 54 occasional (7.5%) Occasional (29-5%) HP:0001829
67 frontal bossing64 54 occasional (7.5%) Occasional (29-5%) HP:0002007
68 pyloric stenosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002021
69 abnormality of the intestine64 54 occasional (7.5%) Occasional (29-5%) HP:0002242
70 scoliosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002650
71 kyphosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002808
72 neuroblastoma64 54 occasional (7.5%) Occasional (29-5%) HP:0003006
73 myopathy64 54 occasional (7.5%) Occasional (29-5%) HP:0003198
74 spinal canal stenosis64 54 occasional (7.5%) Occasional (29-5%) HP:0003416
75 short stature64 54 occasional (7.5%) Occasional (29-5%) HP:0004322
76 hemiplegia/hemiparesis64 54 occasional (7.5%) Occasional (29-5%) HP:0004374
77 abnormal blistering of the skin64 54 occasional (7.5%) Occasional (29-5%) HP:0008066
78 hypoplasia of penis64 54 occasional (7.5%) Occasional (29-5%) HP:0008736
79 abnormality of immune system physiology64 occasional (7.5%) HP:0010978
80 lower limb asymmetry64 54 occasional (7.5%) Occasional (29-5%) HP:0100559
81 telangiectasia of the skin64 occasional (7.5%) HP:0100585
82 displacement of the external urethral meatus64 occasional (7.5%) HP:0100627
83 abnormal eating behavior64 occasional (7.5%) HP:0100738
84 posteriorly rotated ears64 7% HP:0000358
85 dilated cardiomyopathy64 54 7% Occasional (29-5%) HP:0001644
86 myopia64 rare (5%) HP:0000545
87 ventricular septal defect64 4% HP:0001629
88 aortic root dilatation64 3% HP:0002616
89 bicuspid aortic valve64 2% HP:0001647
90 ebstein's anomaly of the tricuspid valve64 very rare (1%) HP:0010316
91 hypospadias64 54 Occasional (29-5%) HP:0000047
92 abnormality of the kidney64 54 Occasional (29-5%) HP:0000077
93 submucous cleft hard palate64 HP:0000176
94 bifid uvula64 HP:0000193
95 cleft upper lip64 HP:0000204
96 high palate64 HP:0000218
97 hydrocephalus64 HP:0000238
98 hypertelorism64 HP:0000316
99 low-set ears64 HP:0000369
100 downslanted palpebral fissures64 HP:0000494
101 optic disc pallor64 HP:0000543
102 blepharophimosis64 HP:0000581
103 upslanted palpebral fissure64 HP:0000582
104 optic nerve coloboma64 HP:0000588
105 synophrys64 HP:0000664
106 aggressive behavior64 HP:0000718
107 impaired social interactions64 HP:0000735
108 self-mutilation64 HP:0000742
109 delayed speech and language development64 54 Very frequent (99-80%) HP:0000750
110 congenital hypothyroidism64 HP:0000851
111 11 pairs of ribs64 54 Occasional (29-5%) HP:0000878
112 bifid ribs64 54 Occasional (29-5%) HP:0000892
113 rib fusion64 54 Occasional (29-5%) HP:0000902
114 intellectual disability64 54 Very frequent (99-80%) HP:0001249
115 agenesis of corpus callosum64 54 Very frequent (99-80%) HP:0001274
116 pachygyria64 HP:0001302
117 hip dysplasia64 54 Occasional (29-5%) HP:0001385
118 delayed closure of the anterior fontanelle64 HP:0001476
119 growth delay64 HP:0001510
120 patent foramen ovale64 HP:0001655
121 pes cavus64 HP:0001761
122 short foot64 54 Very frequent (99-80%) HP:0001773
123 metatarsus adductus64 HP:0001840
124 dysphagia64 54 Frequent (79-30%) HP:0002015
125 gastroesophageal reflux64 54 Frequent (79-30%) HP:0002020
126 hypoplasia of the corpus callosum64 HP:0002079
127 abnormal lung lobation64 HP:0002101
128 polymicrogyria64 HP:0002126
129 delayed cns myelination64 HP:0002188
130 leukoencephalopathy64 HP:0002352
131 hypsarrhythmia64 HP:0002521
132 polyphagia64 54 Occasional (29-5%) HP:0002591
133 delayed skeletal maturation64 HP:0002750
134 abnormality of the anus64 54 Occasional (29-5%) HP:0004378
135 cranial nerve vi palsy64 HP:0006897
136 dilation of lateral ventricles64 HP:0006956
137 microtia64 54 Occasional (29-5%) HP:0008551
138 abnormality of the hairline64 HP:0009553
139 oppositional defiant disorder64 HP:0010865
140 prominent forehead64 HP:0011220
141 horizontal eyebrow64 54 Very frequent (99-80%) HP:0011228
142 midface retrusion64 54 Very frequent (99-80%) HP:0011800
143 infantile spasms64 HP:0012469
144 noncompaction cardiomyopathy64 HP:0012817
145 hydronephrosis54 Occasional (29-5%)
146 hypogonadism54 Occasional (29-5%)
147 delayed cranial suture closure54 Frequent (79-30%)
148 abnormality of vision54 Frequent (79-30%)
149 behavioral abnormality54 Frequent (79-30%)
150 telangiectasia54 Occasional (29-5%)
151 absent speech54 Very frequent (99-80%)
152 joint stiffness54 Occasional (29-5%)
153 abnormality of the liver54 Occasional (29-5%)
154 failure to thrive54 Very frequent (99-80%)
155 generalized hirsutism54 Occasional (29-5%)
156 poor speech54 Very frequent (99-80%)
157 malformation of the heart and great vessels54 Frequent (79-30%)
158 abnormality of the immune system54 Occasional (29-5%)
159 dilatation of the aortic arch54 Occasional (29-5%)
160 cranial nerve paralysis54 Occasional (29-5%)
161 high-grade hypermetropia54 Frequent (79-30%)
162 macule54 Occasional (29-5%)

UMLS symptoms related to Chromosome 1p36 Deletion Syndrome:


seizures

Drugs & Therapeutics for Chromosome 1p36 Deletion Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1SNP-based Microdeletion and Aneuploidy RegisTry (SMART)RecruitingNCT02381457

Search NIH Clinical Center for Chromosome 1p36 Deletion Syndrome


Cochrane evidence based reviews: 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 Syndrome27
2 1p36 Deletion Syndrome24

Anatomical Context for Chromosome 1p36 Deletion Syndrome

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

36
Brain, Heart, Eye, Kidney, Bone, Skin, Pancreas

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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Copy number variations for Chromosome 1p36 Deletion Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1137441127800000DeletionGABRD1p36 deletion syndrome
2137451127800000DeletionGNB11p36 deletion syndrome
3137461127800000DeletionTNFRSF41p36 deletion syndrome
413816117100000Deletion1p36 deletion syndrome

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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GO Terms for genes affiliated with Chromosome 1p36 Deletion Syndrome

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Cellular components related to Chromosome 1p36 Deletion Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell junctionGO:00300549.1GABRD, KCNAB2, KLHL17, PRKCZ, SRPX2

Biological processes related to Chromosome 1p36 Deletion Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell motilityGO:004887010.3SKI, SRPX2
2histone lysine methylationGO:003496810.0PRDM16, PRDM6

Molecular functions related to Chromosome 1p36 Deletion Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1histone-lysine N-methyltransferase activityGO:001802410.4PRDM16, PRDM6
2potassium channel regulator activityGO:00154599.9KCNAB2, PRKCZ

Sources for Chromosome 1p36 Deletion Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet