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:
Inheritance: sporadic
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 seizures, seizures and Array. 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
3pollen allergy9.9LUZP1, PRDM16, PRDM6
4cardiomyopathy9.9
5duodenal atresia9.9
6duodenitis9.9
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:

 54 64 (show all 148)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism64 54 Occasional (29-5%) HP:0000028
2 hypospadias64 54 Occasional (29-5%) HP:0000047
3 abnormality of female external genitalia64 54 Occasional (29-5%) HP:0000055
4 abnormality of the kidney64 54 Occasional (29-5%) HP:0000077
5 renal cyst64 54 Occasional (29-5%) HP:0000107
6 hydronephrosis64 54 Occasional (29-5%) HP:0000126
7 hypogonadism64 54 Occasional (29-5%) HP:0000135
8 narrow mouth64 54 Frequent (79-30%) HP:0000160
9 brachycephaly64 54 Frequent (79-30%) HP:0000248
10 microcephaly64 54 Frequent (79-30%) HP:0000252
11 delayed cranial suture closure64 54 Frequent (79-30%) HP:0000270
12 epicanthus64 54 Frequent (79-30%) HP:0000286
13 pointed chin64 54 Very frequent (99-80%) HP:0000307
14 long philtrum64 54 Very frequent (99-80%) HP:0000343
15 low-set, posteriorly rotated ears64 54 Frequent (79-30%) HP:0000368
16 conductive hearing impairment64 54 Occasional (29-5%) HP:0000405
17 sensorineural hearing impairment64 54 Occasional (29-5%) HP:0000407
18 wide nasal bridge64 54 Very frequent (99-80%) HP:0000431
19 depressed nasal ridge64 54 Frequent (79-30%) HP:0000457
20 abnormality of the neck64 54 Occasional (29-5%) HP:0000464
21 strabismus64 54 Frequent (79-30%) HP:0000486
22 deeply set eye64 54 Very frequent (99-80%) HP:0000490
23 abnormality of vision54 Frequent (79-30%)
24 visual impairment64 54 Occasional (29-5%) HP:0000505
25 cataract64 54 Occasional (29-5%) HP:0000518
26 abnormality of the eyebrow54 Frequent (79-30%)
27 nystagmus64 54 Occasional (29-5%) HP:0000639
28 optic atrophy64 54 Occasional (29-5%) HP:0000648
29 behavioral abnormality54 Frequent (79-30%)
30 autism64 54 Frequent (79-30%) HP:0000717
31 stereotypy64 54 Frequent (79-30%) HP:0000733
32 delayed speech and language development64 54 Very frequent (99-80%) HP:0000750
33 hypothyroidism64 54 Occasional (29-5%) HP:0000821
34 11 pairs of ribs64 54 Occasional (29-5%) HP:0000878
35 bifid ribs64 54 Occasional (29-5%) HP:0000892
36 rib fusion64 54 Occasional (29-5%) HP:0000902
37 telangiectasia64 54 Occasional (29-5%) HP:0001009
38 ocular albinism64 54 Occasional (29-5%) HP:0001107
39 brachydactyly syndrome64 54 Very frequent (99-80%) HP:0001156
40 intellectual disability64 54 Very frequent (99-80%) HP:0001249
41 seizures64 54 Frequent (79-30%) HP:0001250
42 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
43 global developmental delay64 54 Very frequent (99-80%) HP:0001263
44 agenesis of corpus callosum64 54 Very frequent (99-80%) HP:0001274
45 gait disturbance64 54 Very frequent (99-80%) HP:0001288
46 absent speech64 54 Very frequent (99-80%) HP:0001344
47 hip dysplasia64 54 Occasional (29-5%) HP:0001385
48 joint stiffness64 54 Occasional (29-5%) HP:0001387
49 abnormality of the liver54 Occasional (29-5%)
50 hepatic steatosis64 54 Occasional (29-5%) HP:0001397
51 failure to thrive64 54 Very frequent (99-80%) HP:0001508
52 obesity64 54 Occasional (29-5%) HP:0001513
53 tetralogy of fallot64 54 Occasional (29-5%) HP:0001636
54 patent ductus arteriosus64 54 Occasional (29-5%) HP:0001643
55 dilated cardiomyopathy64 54 Occasional (29-5%) HP:0001644
56 abnormality of the heart valves64 54 Occasional (29-5%) HP:0001654
57 abnormality of the cardiac septa64 54 Occasional (29-5%) HP:0001671
58 annular pancreas64 54 Occasional (29-5%) HP:0001734
59 abnormality of the spleen64 54 Occasional (29-5%) HP:0001743
60 short foot64 54 Very frequent (99-80%) HP:0001773
61 foot polydactyly64 54 Occasional (29-5%) HP:0001829
62 frontal bossing64 54 Occasional (29-5%) HP:0002007
63 dysphagia64 54 Frequent (79-30%) HP:0002015
64 constipation64 54 Frequent (79-30%) HP:0002019
65 gastroesophageal reflux64 54 Frequent (79-30%) HP:0002020
66 pyloric stenosis64 54 Occasional (29-5%) HP:0002021
67 ventriculomegaly64 54 Very frequent (99-80%) HP:0002119
68 cerebral cortical atrophy64 54 Very frequent (99-80%) HP:0002120
69 neurological speech impairment54 Very frequent (99-80%)
70 generalized hirsutism64 54 Occasional (29-5%) HP:0002230
71 abnormality of the intestine64 54 Occasional (29-5%) HP:0002242
72 eeg abnormality64 54 Very frequent (99-80%) HP:0002353
73 poor speech64 54 Very frequent (99-80%) HP:0002465
74 malformation of the heart and great vessels54 Frequent (79-30%)
75 polyphagia64 54 Occasional (29-5%) HP:0002591
76 scoliosis64 54 Occasional (29-5%) HP:0002650
77 abnormality of the immune system54 Occasional (29-5%)
78 kyphosis64 54 Occasional (29-5%) HP:0002808
79 neuroblastoma64 54 Occasional (29-5%) HP:0003006
80 myopathy64 54 Occasional (29-5%) HP:0003198
81 spinal canal stenosis64 54 Occasional (29-5%) HP:0003416
82 clinodactyly of the 5th finger64 54 Frequent (79-30%) HP:0004209
83 short stature64 54 Occasional (29-5%) HP:0004322
84 hemiplegia/hemiparesis64 54 Occasional (29-5%) HP:0004374
85 abnormality of the anus64 54 Occasional (29-5%) HP:0004378
86 dilatation of the aortic arch64 54 Occasional (29-5%) HP:0005113
87 depressed nasal bridge64 54 Frequent (79-30%) HP:0005280
88 cranial nerve paralysis64 54 Occasional (29-5%) HP:0006824
89 abnormal blistering of the skin64 54 Occasional (29-5%) HP:0008066
90 high-grade hypermetropia64 54 Frequent (79-30%) HP:0008499
91 microtia64 54 Occasional (29-5%) HP:0008551
92 hypoplasia of penis64 54 Occasional (29-5%) HP:0008736
93 feeding difficulties in infancy64 54 Frequent (79-30%) HP:0008872
94 horizontal eyebrow64 54 Very frequent (99-80%) HP:0011228
95 midface retrusion64 54 Very frequent (99-80%) HP:0011800
96 macule64 54 Occasional (29-5%) HP:0012733
97 camptodactyly of finger64 54 Very frequent (99-80%) HP:0100490
98 lower limb asymmetry64 54 Occasional (29-5%) HP:0100559
99 self-injurious behavior64 54 Frequent (79-30%) HP:0100716
100 submucous cleft hard palate64 HP:0000176
101 bifid uvula64 HP:0000193
102 cleft upper lip64 HP:0000204
103 high palate64 HP:0000218
104 hydrocephalus64 HP:0000238
105 wide anterior fontanel64 HP:0000260
106 malar flattening64 HP:0000272
107 hypertelorism64 HP:0000316
108 posteriorly rotated ears64 HP:0000358
109 low-set ears64 HP:0000369
110 thickened helices64 HP:0000391
111 downslanted palpebral fissures64 HP:0000494
112 hypermetropia64 HP:0000540
113 optic disc pallor64 HP:0000543
114 myopia64 HP:0000545
115 blepharophimosis64 HP:0000581
116 upslanted palpebral fissure64 HP:0000582
117 optic nerve coloboma64 HP:0000588
118 synophrys64 HP:0000664
119 aggressive behavior64 HP:0000718
120 impaired social interactions64 HP:0000735
121 self-mutilation64 HP:0000742
122 congenital hypothyroidism64 HP:0000851
123 pachygyria64 HP:0001302
124 delayed closure of the anterior fontanelle64 HP:0001476
125 growth delay64 HP:0001510
126 ventricular septal defect64 HP:0001629
127 bicuspid aortic valve64 HP:0001647
128 patent foramen ovale64 HP:0001655
129 pes cavus64 HP:0001761
130 metatarsus adductus64 HP:0001840
131 hypoplasia of the corpus callosum64 HP:0002079
132 abnormal lung lobation64 HP:0002101
133 polymicrogyria64 HP:0002126
134 delayed cns myelination64 HP:0002188
135 leukoencephalopathy64 HP:0002352
136 hypsarrhythmia64 HP:0002521
137 aortic root dilatation64 HP:0002616
138 delayed skeletal maturation64 HP:0002750
139 cranial nerve vi palsy64 HP:0006897
140 dilation of lateral ventricles64 HP:0006956
141 short 5th finger64 HP:0009237
142 abnormality of the hairline64 HP:0009553
143 ebstein's anomaly of the tricuspid valve64 HP:0010316
144 asymmetry of the ears64 HP:0010722
145 oppositional defiant disorder64 HP:0010865
146 prominent forehead64 HP:0011220
147 infantile spasms64 HP:0012469
148 noncompaction cardiomyopathy64 HP:0012817

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
1synapseGO:00452029.4GABRD, KCNAB2, KLHL17, SRPX2
2cell junctionGO:00300548.7AJAP1, GABRD, KCNAB2, KLHL17, PRKCZ, SRPX2

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

idNameGO IDScoreTop Affiliating Genes
1cell motilityGO:004887010.2SKI, SRPX2
2histone lysine methylationGO:00349689.9PRDM16, PRDM6

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

idNameGO IDScoreTop Affiliating Genes
1potassium channel regulator activityGO:00154599.4KCNAB2, 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