MCID: 1P3001
MIFTS: 49

1p36 Deletion Syndrome malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases categories
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Summaries for 1p36 Deletion Syndrome

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Genetics Home Reference:21 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).

MalaCards based summary: 1p36 Deletion Syndrome, also known as monosomy 1p36 syndrome, is related to chromosome 1p36 deletion syndrome and lysosomal storage disease, and has symptoms including deepset eyes/enophthalmos, mid-facial hypoplasia/short/small midface and pointed chin. An important gene associated with 1p36 Deletion Syndrome is GABRD (gamma-aminobutyric acid (GABA) A receptor, delta). Affiliated tissues include brain, eye and liver, and related mouse phenotypes are hearing/vestibular/ear and nervous system.

Wikipedia:65 1p36 deletion syndrome (also known as monosomy 1p36) is a congenital genetic disorder characterized by... more...

Description from OMIM:46 607872

GeneReviews summary for del1p36

Aliases & Classifications for 1p36 Deletion Syndrome

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Sources:
65Wikipedia, 19GeneReviews, 20GeneTests, 21Genetics Home Reference, 48Orphanet, 46OMIM, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

1p36 Deletion Syndrome, Aliases & Descriptions:

Name: 1p36 Deletion Syndrome 65 19 20 21 48 46
Monosomy 1p36 Syndrome 65 19 21
Chromosome 1p36 Deletion Syndrome 21 62
Distal Monosomy 1p36 21 62
Chromosome 1, 1p36 Deletion Syndrome 62
Subtelomeric 1p36 Deletion 48
 
Gene Deletion Abnormality 62
Deletion 1pter 48
Monosomy 1pter 48
Monosomy 1p36 48
Deletion 1p36 48
Del(1)(p36) 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
1p36 deletion syndrome:
Inheritance: Sporadic; Age of onset: Neonatal/infancy; Age of death: Any age


External Ids:

OMIM46 607872
ICD10 via Orphanet26 Q93.5
UMLS via Orphanet63 C1842870

Related Diseases for 1p36 Deletion Syndrome

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

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1chromosome 1p36 deletion syndrome10.7
2lysosomal storage disease10.3
3duodenitis10.3
4duodenal atresia10.3
5morbid obesity10.2
6obesity10.2
7pemphigus vulgaris10.2
8hyperinsulinism10.2
9pemphigus10.2
10dermatitis10.2
11myopathy10.2
12smith magenis syndrome10.2
13congenital fiber-type disproportion10.2
14annular pancreas10.2
15mental retardation10.2
16angelman syndrome10.2
17aicardi syndrome10.2
18cantu syndrome10.2

Graphical network of diseases related to 1p36 Deletion Syndrome:



Diseases related to 1p36 deletion syndrome

Symptoms for 1p36 Deletion Syndrome

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Symptoms by clinical synopsis from OMIM:

607872

Clinical features from OMIM:

607872

Symptoms:

48 (show all 90)
  • deepset eyes/enophthalmos
  • mid-facial hypoplasia/short/small midface
  • pointed chin
  • enlargment of jaw/large jaw
  • eyebrows anomalies
  • broad nasal root
  • long philtrum
  • short hand/brachydactyly
  • camptodactyly of fingers
  • short foot/brachydactyly of toes
  • dilated cerebral ventricles without hydrocephaly
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • corpus callosum/septum pellucidum total/partial agenesis
  • eeg anomalies
  • abnormal gait
  • hypotonia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • insterstitial/subtelomeric microdeletion/deletion
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • brachycephaly/flat occiput
  • large fontanelle/delayed fontanelle closure
  • anomalies of eyes and vision
  • hypermetropia
  • strabismus/squint
  • epicanthic folds
  • flattened nose
  • depressed nasal bridge
  • microstomia/little mouth
  • low set ears/posteriorly rotated ears
  • clinodactyly of fifth finger
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • constipation
  • congenital cardiac anomaly/malformation/cardiopathy
  • tics/stereotypias
  • seizures/epilepsy/absences/spasms/status epilepticus
  • psychic/behavioural troubles
  • autism/autistic disoders
  • auto-aggressivity/auto-mutilation
  • frontal bossing/prominent forehead
  • cataract/lens opacification
  • retinal albinism
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • nystagmus
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • sensorineural deafness/hearing loss
  • conductive deafness/hearing loss
  • anomalies of the neck
  • anomalies of the ribs
  • kyphosis
  • scoliosis
  • rachidian/spine canal stenosis
  • lower limb asymmetry/hemiatrophy/hemihypertrophy
  • polydactyly of toes
  • macules
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • telangiectasiae of the skin
  • hirsutism/hypertrichosis/increased body hair
  • gastric/pyloric stenosis
  • intestinal/colonic anomaly
  • anus/rectum anomalies
  • structural anomalies of the liver and the biliary tract
  • liver/hepatic steatosis
  • annular pancreas
  • structural and functional anomalies of the spleen
  • cardiac valvulopathy
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • tetralogy of fallot/trilogy of fallot
  • cardiac septal defect
  • patent ductus arteriosus
  • cardiomyopathy/hypertrophic/dilated
  • renal/kidney anomalies
  • renal cyst (single)
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • clitoris/labia majora/labia minora/female external genitalia hypoplasia
  • micropenis/small penis/agenesis
  • hypospadias/epispadias/bent penis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hypothyroidy
  • late puberty/hypogonadism/hypogenitalism
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • bulimia/hyperphagia
  • myopathy
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • neuroblastoma
  • generalized obesity
  • short stature/dwarfism/nanism
  • early death/lethality

HPO human phenotypes related to 1p36 Deletion Syndrome:

(show all 173)
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 stereotypic behavior 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 teleangiectasia 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 phenotypic variability HP:0003812
161 abnormality of the anus HP:0004378
162 cranial nerve vi palsy HP:0006897
163 dilation of lateral ventricles HP:0006956
164 microtia HP:0008551
165 feeding difficulties in infancy HP:0008872
166 abnormality of the hairline HP:0009553
167 oppositional defiant disorder HP:0010865
168 prominent forehead HP:0011220
169 horizontal eyebrow HP:0011228
170 midface retrusion HP:0011800
171 infantile spasms HP:0012469
172 noncompaction cardiomyopathy HP:0012817
173 camptodactyly of finger HP:0100490

Drugs & Therapeutics for 1p36 Deletion Syndrome

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Drug clinical trials:

Search ClinicalTrials for 1p36 Deletion Syndrome

Search NIH Clinical Center for 1p36 Deletion Syndrome

Genetic Tests for 1p36 Deletion Syndrome

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Genetic tests related to 1p36 Deletion Syndrome:

id Genetic test Affiliating Genes
1 1p36 Deletion Syndrome20

Anatomical Context for 1p36 Deletion Syndrome

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MalaCards organs/tissues related to 1p36 Deletion Syndrome:

32
Brain, Eye, Liver, Testes, Pancreas, Skin, Spleen, Colon, Kidney

Animal Models for 1p36 Deletion Syndrome or affiliated genes

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MGI Mouse Phenotypes related to 1p36 Deletion Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.2GABRD, KCNAB2
2MP:00036318.0KCNAB2, PRDM16, GABRD, SKI
3MP:00107687.8SKI, KCNAB2, PRDM16, GABRD

Publications for 1p36 Deletion Syndrome

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Articles related to 1p36 Deletion Syndrome:

(show all 29)
idTitleAuthorsYear
1
Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome. (24985706)
2014
2
Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications. (25172301)
2014
3
Loss of PRDM16 Is Unlikely to Cause Cardiomyopathy in 1p36 Deletion Syndrome. (24387995)
2014
4
Dermatitis artefacta presenting as a recurrent skin eruption in a patient with 1p36 deletion syndrome. (24433376)
2014
5
Novel airway findings in a patient with 1p36 deletion syndrome. (24290305)
2014
6
Growth patterns of patients with 1p36 deletion syndrome. (24750553)
2014
7
Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype. (24479866)
2014
8
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. (23768516)
2013
9
Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome. (24311364)
2013
10
Multiple causes of apnea in 1p36 deletion syndrome include seizures. (22425009)
2012
11
Dying at 23 with 1p36 deletion syndrome: Laura's family story. (24020340)
2012
12
A case of 1p36 deletion syndrome accompanied with anomalous arrangement of the pancreaticobiliary duct. (21160384)
2011
13
Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome. (21480478)
2011
14
Chromosome 1p36 deletion syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings. (21199750)
2010
15
1p36 deletion syndrome associated with Prader-Willi-like phenotype. (20113418)
2010
16
Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2). (18835671)
2009
17
Spectrum of epilepsy in terminal 1p36 deletion syndrome. (18031548)
2008
18
Monosomy 1p36 deletion syndrome. (17918734)
2007
19
Effect of carbamazepine on epilepsy with 1p36 deletion syndrome]. (17633087)
2007
20
Pemphigus vulgaris in a patient with 1p36 deletion syndrome. (17052548)
2006
21
1p36 deletion syndrome with intestinal malrotation and annular pancreas. (15717182)
2005
22
Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome. (16023556)
2005
23
FISH analysis of hematological neoplasias with 1p36 rearrangements allows the definition of a cluster of 2.5 Mb included in the minimal region deleted in 1p36 deletion syndrome. (15744521)
2005
24
Revisit on a distinctive chromosome 1p36 deletion syndrome: report of one case and review of the English literature. (15301904)
2004
25
A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy. (12376748)
2002
26
Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice. (11731796)
2002
27
Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome. (11580756)
2001
28
Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions. (9931339)
1999
29
1p36 Deletion Syndrome (20301370)
1993

Variations for 1p36 Deletion Syndrome

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Expression for genes affiliated with 1p36 Deletion Syndrome

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Expression patterns in normal tissues for genes affiliated with 1p36 Deletion Syndrome

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

Pathways for genes affiliated with 1p36 Deletion Syndrome

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Compounds for genes affiliated with 1p36 Deletion Syndrome

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GO Terms for genes affiliated with 1p36 Deletion Syndrome

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Cellular components related to 1p36 Deletion Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcriptional repressor complexGO:0170539.3SKI, PRDM16

Biological processes related to 1p36 Deletion Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1somatic stem cell maintenanceGO:0350199.4SKI, PRDM16
2palate developmentGO:0600219.3PRDM16, SKI
3negative regulation of transcription from RNA polymerase II promoterGO:0001229.3SKI, PRDM16
4negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.2PRDM16, SKI
5synaptic transmissionGO:0072688.9GABRD, KCNAB2

Molecular functions related to 1p36 Deletion Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1SMAD bindingGO:0463329.3SKI, PRDM16

Products for genes affiliated with 1p36 Deletion Syndrome

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  • Antibodies
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Sources for 1p36 Deletion Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet