MCID: CHR222
MIFTS: 43

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 50 11 46 24 13 25 12 37 66
1p36 Deletion Syndrome 11 69 22 46 23 24 52
Monosomy 1p36 Syndrome 22 46 23 24
Subtelomeric 1p36 Deletion 11 52
Monosomy 1p36 11 52
Deletion 1p36 11 52
 
Deletion 1p36 Syndrome 23
Distal Monosomy 1p36 24
Monosomy 1pter 52
Deletion 1pter 52
Del(1)(p36) 52

Characteristics:

Orphanet epidemiological data:

52
1p36 deletion syndrome:
Inheritance: Not applicable; Prevalence: 1-5/10000 (United States); Age of onset: Antenatal,Neonatal; Age of death: any age

HPO:

62
chromosome 1p36 deletion syndrome:
Onset and clinical course: phenotypic variability


Classifications:



External Ids:

OMIM50 607872
Disease Ontology11 DOID:0060410
MeSH37 C535362
NCIt43 C74983
SNOMED-CT60 699306003
Orphanet52 ORPHA1606
ICD10 via Orphanet29 Q93.5
UMLS via Orphanet67 C1842870

Summaries for Chromosome 1p36 Deletion Syndrome

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NIH Rare Diseases:46 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 lysosomal storage disease and epilepsy, 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), and among its related pathways is Proton Pump Inhibitor Pathway, Pharmacodynamics. Affiliated tissues include brain, heart and eye, and related mouse phenotype mortality/aging.

Genetics Home Reference:24 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:50 The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental... (607872) more...

Wikipedia:69 1p36 deletion syndrome (also known as monosomy 1p36) is a congenital genetic disorder characterized by... more...

GeneReviews summary 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 17)
idRelated DiseaseScoreTop Affiliating Genes
1lysosomal storage disease10.1
2epilepsy10.1
3cardiomyopathy10.0
4duodenal atresia10.0
5duodenitis10.0
6obesity9.8
7smith-magenis syndrome9.8
8pemphigus vulgaris9.8
9left ventricular noncompaction9.8
10congenital fiber-type disproportion9.8
11hyperinsulinism9.8
12dermatitis9.8
13myopathy9.8
14pemphigus9.8
15polymicrogyria9.8
16chicken egg allergy9.5LUZP1, PRDM16, PRDM6
17chromosome 1p36 deletion syndrome4.5CAMTA1, CASZ1, DEL1P36, GABRD, KCNAB2, KLHL17

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

Symptoms:

 52 (show all 99)
  • cryptorchidism
  • hypospadias
  • abnormality of female external genitalia
  • abnormality of the kidney
  • renal cyst
  • hydronephrosis
  • hypogonadism
  • narrow mouth
  • brachycephaly
  • microcephaly
  • delayed cranial suture closure
  • epicanthus
  • pointed chin
  • long philtrum
  • low-set, posteriorly rotated ears
  • conductive hearing impairment
  • sensorineural hearing impairment
  • wide nasal bridge
  • depressed nasal ridge
  • abnormality of the neck
  • strabismus
  • deeply set eye
  • abnormality of vision
  • visual impairment
  • cataract
  • abnormality of the eyebrow
  • nystagmus
  • optic atrophy
  • behavioral abnormality
  • autism
  • stereotypic behavior
  • delayed speech and language development
  • hypothyroidism
  • 11 pairs of ribs
  • bifid ribs
  • rib fusion
  • telangiectasia
  • ocular albinism
  • brachydactyly syndrome
  • intellectual disability
  • seizures
  • muscular hypotonia
  • global developmental delay
  • agenesis of corpus callosum
  • gait disturbance
  • absent speech
  • hip dysplasia
  • joint stiffness
  • abnormality of the liver
  • hepatic steatosis
  • failure to thrive
  • obesity
  • tetralogy of fallot
  • patent ductus arteriosus
  • dilated cardiomyopathy
  • abnormality of the heart valves
  • abnormality of the cardiac septa
  • annular pancreas
  • abnormality of the spleen
  • short foot
  • foot polydactyly
  • frontal bossing
  • dysphagia
  • constipation
  • gastroesophageal reflux
  • pyloric stenosis
  • ventriculomegaly
  • cerebral cortical atrophy
  • neurological speech impairment
  • generalized hirsutism
  • abnormality of the intestine
  • eeg abnormality
  • poor speech
  • malformation of the heart and great vessels
  • polyphagia
  • scoliosis
  • abnormality of the immune system
  • kyphosis
  • neuroblastoma
  • myopathy
  • spinal canal stenosis
  • clinodactyly of the 5th finger
  • short stature
  • hemiplegia/hemiparesis
  • abnormality of the anus
  • dilatation of the aortic arch
  • depressed nasal bridge
  • cranial nerve paralysis
  • abnormal blistering of the skin
  • high-grade hypermetropia
  • microtia
  • hypoplasia of penis
  • feeding difficulties in infancy
  • horizontal eyebrow
  • midface retrusion
  • macule
  • camptodactyly of finger
  • lower limb asymmetry
  • self-injurious behavior

HPO human phenotypes related to Chromosome 1p36 Deletion Syndrome:

(show all 172)
id Description Frequency HPO Source Accession
1 malar flattening hallmark (90%) HP:0000272
2 abnormality of the mandible hallmark (90%) HP:0000277
3 pointed chin hallmark (90%) HP:0000307
4 long philtrum hallmark (90%) HP:0000343
5 wide nasal bridge hallmark (90%) HP:0000431
6 deeply set eye hallmark (90%) HP:0000490
7 abnormality of the eyebrow hallmark (90%) HP:0000534
8 brachydactyly syndrome hallmark (90%) HP:0001156
9 muscular hypotonia hallmark (90%) HP:0001252
10 gait disturbance hallmark (90%) HP:0001288
11 short toe hallmark (90%) HP:0001831
12 ventriculomegaly hallmark (90%) HP:0002119
13 cerebral cortical atrophy hallmark (90%) HP:0002120
14 neurological speech impairment hallmark (90%) HP:0002167
15 eeg abnormality hallmark (90%) HP:0002353
16 aplasia/hypoplasia of the corpus callosum hallmark (90%) HP:0007370
17 camptodactyly of finger hallmark (90%) HP:0100490
18 cognitive impairment hallmark (90%) HP:0100543
19 narrow mouth typical (50%) HP:0000160
20 abnormality of the fontanelles or cranial sutures typical (50%) HP:0000235
21 epicanthus typical (50%) HP:0000286
22 low-set, posteriorly rotated ears typical (50%) HP:0000368
23 depressed nasal ridge typical (50%) HP:0000457
24 strabismus typical (50%) HP:0000486
25 hypermetropia typical (50%) HP:0000540
26 autism typical (50%) HP:0000717
27 stereotypy typical (50%) HP:0000733
28 seizures typical (50%) HP:0001250
29 constipation typical (50%) HP:0002019
30 clinodactyly of the 5th finger typical (50%) HP:0004209
31 depressed nasal bridge typical (50%) HP:0005280
32 feeding difficulties in infancy typical (50%) HP:0008872
33 self-injurious behavior typical (50%) HP:0100716
34 global developmental delay 30% HP:0001263
35 muscular hypotonia 26% HP:0001252
36 short 5th finger 26% HP:0009237
37 deeply set eye 24% HP:0000490
38 depressed nasal bridge 23% HP:0005280
39 wide anterior fontanel 22% HP:0000260
40 pointed chin 20% HP:0000307
41 depressed nasal ridge 20% HP:0000457
42 hypermetropia 20% HP:0000540
43 brachycephaly 18% HP:0000248
44 microcephaly 18% HP:0000252
45 thickened helices 16% HP:0000391
46 asymmetry of the ears 16% HP:0010722
47 seizures 15% HP:0001250
48 clinodactyly of the 5th finger 12% HP:0004209
49 strabismus 9% HP:0000486
50 cryptorchidism occasional (7.5%) HP:0000028
51 abnormality of female external genitalia occasional (7.5%) HP:0000055
52 renal cyst occasional (7.5%) HP:0000107
53 conductive hearing impairment occasional (7.5%) HP:0000405
54 sensorineural hearing impairment occasional (7.5%) HP:0000407
55 abnormality of the neck occasional (7.5%) HP:0000464
56 visual impairment occasional (7.5%) HP:0000505
57 cataract occasional (7.5%) HP:0000518
58 nystagmus occasional (7.5%) HP:0000639
59 optic atrophy occasional (7.5%) HP:0000648
60 abnormality of the ribs occasional (7.5%) HP:0000772
61 hypothyroidism occasional (7.5%) HP:0000821
62 hypertrichosis occasional (7.5%) HP:0000998
63 hypermelanotic macule occasional (7.5%) HP:0001034
64 ocular albinism occasional (7.5%) HP:0001107
65 hepatic steatosis occasional (7.5%) HP:0001397
66 obesity occasional (7.5%) HP:0001513
67 tetralogy of fallot occasional (7.5%) HP:0001636
68 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
69 patent ductus arteriosus occasional (7.5%) HP:0001643
70 abnormality of the heart valves occasional (7.5%) HP:0001654
71 abnormality of the cardiac septa occasional (7.5%) HP:0001671
72 abnormality of the aorta occasional (7.5%) HP:0001679
73 annular pancreas occasional (7.5%) HP:0001734
74 abnormality of the spleen occasional (7.5%) HP:0001743
75 foot polydactyly occasional (7.5%) HP:0001829
76 frontal bossing occasional (7.5%) HP:0002007
77 pyloric stenosis occasional (7.5%) HP:0002021
78 abnormality of the intestine occasional (7.5%) HP:0002242
79 scoliosis occasional (7.5%) HP:0002650
80 kyphosis occasional (7.5%) HP:0002808
81 neuroblastoma occasional (7.5%) HP:0003006
82 myopathy occasional (7.5%) HP:0003198
83 spinal canal stenosis occasional (7.5%) HP:0003416
84 short stature occasional (7.5%) HP:0004322
85 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
86 abnormal blistering of the skin occasional (7.5%) HP:0008066
87 hypoplasia of penis occasional (7.5%) HP:0008736
88 abnormality of immune system physiology occasional (7.5%) HP:0010978
89 lower limb asymmetry occasional (7.5%) HP:0100559
90 telangiectasia of the skin occasional (7.5%) HP:0100585
91 displacement of the external urethral meatus occasional (7.5%) HP:0100627
92 abnormal eating behavior occasional (7.5%) HP:0100738
93 posteriorly rotated ears 7% HP:0000358
94 dilated cardiomyopathy 7% HP:0001644
95 myopia rare (5%) HP:0000545
96 patent ductus arteriosus rare (5%) HP:0001643
97 nystagmus 4% HP:0000639
98 ventricular septal defect 4% HP:0001629
99 aortic root dilatation 3% HP:0002616
100 bicuspid aortic valve 2% HP:0001647
101 ebstein's anomaly of the tricuspid valve very rare (1%) HP:0010316
102 cryptorchidism HP:0000028
103 hypospadias HP:0000047
104 abnormality of the kidney HP:0000077
105 submucous cleft hard palate HP:0000176
106 bifid uvula HP:0000193
107 cleft upper lip HP:0000204
108 high palate HP:0000218
109 hydrocephalus HP:0000238
110 malar flattening HP:0000272
111 epicanthus HP:0000286
112 hypertelorism HP:0000316
113 long philtrum HP:0000343
114 low-set ears HP:0000369
115 conductive hearing impairment HP:0000405
116 sensorineural hearing impairment HP:0000407
117 downslanted palpebral fissures HP:0000494
118 visual impairment HP:0000505
119 cataract HP:0000518
120 optic disc pallor HP:0000543
121 blepharophimosis HP:0000581
122 upslanted palpebral fissure HP:0000582
123 optic nerve coloboma HP:0000588
124 optic atrophy HP:0000648
125 synophrys HP:0000664
126 aggressive behavior HP:0000718
127 impaired social interactions HP:0000735
128 self-mutilation HP:0000742
129 delayed speech and language development HP:0000750
130 congenital hypothyroidism HP:0000851
131 11 pairs of ribs HP:0000878
132 bifid ribs HP:0000892
133 rib fusion HP:0000902
134 brachydactyly syndrome HP:0001156
135 intellectual disability HP:0001249
136 agenesis of corpus callosum HP:0001274
137 pachygyria HP:0001302
138 hip dysplasia HP:0001385
139 delayed closure of the anterior fontanelle HP:0001476
140 growth delay HP:0001510
141 obesity HP:0001513
142 patent foramen ovale HP:0001655
143 pes cavus HP:0001761
144 short foot HP:0001773
145 metatarsus adductus HP:0001840
146 frontal bossing HP:0002007
147 dysphagia HP:0002015
148 constipation HP:0002019
149 gastroesophageal reflux HP:0002020
150 hypoplasia of the corpus callosum HP:0002079
151 abnormal lung lobation HP:0002101
152 cerebral cortical atrophy HP:0002120
153 polymicrogyria HP:0002126
154 delayed cns myelination HP:0002188
155 leukoencephalopathy HP:0002352
156 hypsarrhythmia HP:0002521
157 polyphagia HP:0002591
158 scoliosis HP:0002650
159 delayed skeletal maturation HP:0002750
160 abnormality of the anus HP:0004378
161 cranial nerve vi palsy HP:0006897
162 dilation of lateral ventricles HP:0006956
163 microtia HP:0008551
164 feeding difficulties in infancy HP:0008872
165 abnormality of the hairline HP:0009553
166 oppositional defiant disorder HP:0010865
167 prominent forehead HP:0011220
168 horizontal eyebrow HP:0011228
169 midface retrusion HP:0011800
170 infantile spasms HP:0012469
171 noncompaction cardiomyopathy HP:0012817
172 camptodactyly of finger HP:0100490

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 Syndrome25
2 1p36 Deletion Syndrome23

Anatomical Context for Chromosome 1p36 Deletion Syndrome

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

34
Brain, Heart, Eye, Kidney, Bone, Skin, Pancreas

Animal Models for Chromosome 1p36 Deletion Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Chromosome 1p36 Deletion Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107686.8CAMTA1, CASZ1, GABRD, KCNAB2, LUZP1, PRDM16

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

idSuper pathwaysScoreTop Affiliating Genes
19.5PLCH2, PRKCZ

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:00300548.8GABRD, KCNAB2, KLHL17, PRKCZ, SRPX2

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

idNameGO IDScoreTop Affiliating Genes
1cell motilityGO:00488709.8SKI, SRPX2
2histone lysine methylationGO:00349689.5PRDM16, PRDM6

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

idNameGO IDScoreTop Affiliating Genes
1potassium channel regulator activityGO:00154599.7KCNAB2, PRKCZ
2histone-lysine N-methyltransferase activityGO:00180249.3PRDM16, PRDM6

Sources for Chromosome 1p36 Deletion Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet