MCID: 1P3001
MIFTS: 41

1p36 Deletion Syndrome malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases categories

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 duodenitis, and has symptoms including malar flattening, abnormality of the mandible and pointed chin. An important gene associated with 1p36 Deletion Syndrome is GABRD (gamma-aminobutyric acid (GABA) A receptor, delta). Affiliated tissues include brain, skin and eye, and related mouse phenotypes are hearing/vestibular/ear and nervous system.

Wikipedia:63 1p36 deletion syndrome (also known as monosomy 1p36) is a congenital genetic disorder characterized by... more...

GeneReviews summary for del1p36

Aliases & Classifications for 1p36 Deletion Syndrome

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Sources:
63Wikipedia, 19GeneReviews, 20GeneTests, 21Genetics Home Reference, 47Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

1p36 Deletion Syndrome, Aliases & Descriptions:

Name: 1p36 Deletion Syndrome 63 19 21 47
Monosomy 1p36 Syndrome 63 19 21
Chromosome 1p36 Deletion Syndrome 21 60
Deletion 1p36 20 47
Subtelomeric 1p36 Deletion 47
 
Distal Monosomy 1p36 21
Monosomy 1pter 47
Deletion 1pter 47
Monosomy 1p36 47
Del(1)(p36) 47


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
1p36 deletion syndrome:
Inheritance: Not applicable; Prevalence: 1-5/10000 (United States); Age of onset: Antenatal,Neonatal; Age of death: any age


External Ids:

Orphanet47 1606
ICD10 via Orphanet26 Q93.5
UMLS via Orphanet61 C1842870

Related Diseases for 1p36 Deletion Syndrome

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

(show all 19)
idRelated DiseaseScoreTop Affiliating Genes
1chromosome 1p36 deletion syndrome10.7
2duodenitis10.3
3duodenal atresia10.3
4lysosomal storage disease10.2
5morbid obesity10.2
6smith-magenis syndrome10.2
7obesity10.2
8pemphigus vulgaris10.2
9pemphigus10.2
10hyperinsulinism10.2
11dermatitis10.2
12myopathy10.2
13congenital fiber-type disproportion10.2
14polymicrogyria10.2
15annular pancreas10.2
16left ventricular noncompaction10.2
17mental retardation10.2
18angelman syndrome10.2
19aicardi 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:

 47 (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 76)
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 cryptorchidism occasional (7.5%) HP:0000028
35 abnormality of female external genitalia occasional (7.5%) HP:0000055
36 renal cyst occasional (7.5%) HP:0000107
37 conductive hearing impairment occasional (7.5%) HP:0000405
38 sensorineural hearing impairment occasional (7.5%) HP:0000407
39 abnormality of the neck occasional (7.5%) HP:0000464
40 visual impairment occasional (7.5%) HP:0000505
41 cataract occasional (7.5%) HP:0000518
42 nystagmus occasional (7.5%) HP:0000639
43 optic atrophy occasional (7.5%) HP:0000648
44 abnormality of the ribs occasional (7.5%) HP:0000772
45 hypothyroidism occasional (7.5%) HP:0000821
46 hypertrichosis occasional (7.5%) HP:0000998
47 hypermelanotic macule occasional (7.5%) HP:0001034
48 ocular albinism occasional (7.5%) HP:0001107
49 hepatic steatosis occasional (7.5%) HP:0001397
50 obesity occasional (7.5%) HP:0001513
51 tetralogy of fallot occasional (7.5%) HP:0001636
52 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
53 patent ductus arteriosus occasional (7.5%) HP:0001643
54 abnormality of the heart valves occasional (7.5%) HP:0001654
55 abnormality of the cardiac septa occasional (7.5%) HP:0001671
56 abnormality of the aorta occasional (7.5%) HP:0001679
57 annular pancreas occasional (7.5%) HP:0001734
58 abnormality of the spleen occasional (7.5%) HP:0001743
59 foot polydactyly occasional (7.5%) HP:0001829
60 frontal bossing occasional (7.5%) HP:0002007
61 pyloric stenosis occasional (7.5%) HP:0002021
62 abnormality of the intestine occasional (7.5%) HP:0002242
63 scoliosis occasional (7.5%) HP:0002650
64 kyphosis occasional (7.5%) HP:0002808
65 neuroblastoma occasional (7.5%) HP:0003006
66 myopathy occasional (7.5%) HP:0003198
67 spinal canal stenosis occasional (7.5%) HP:0003416
68 short stature occasional (7.5%) HP:0004322
69 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
70 abnormal blistering of the skin occasional (7.5%) HP:0008066
71 hypoplasia of penis occasional (7.5%) HP:0008736
72 abnormality of immune system physiology occasional (7.5%) HP:0010978
73 lower limb asymmetry occasional (7.5%) HP:0100559
74 teleangiectasia of the skin occasional (7.5%) HP:0100585
75 displacement of the external urethral meatus occasional (7.5%) HP:0100627
76 abnormal eating behavior occasional (7.5%) HP:0100738

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:

31
Brain, Skin, Eye, Spleen, Liver, Testes, Pancreas, Heart, Colon, Kidney

Animal Models for 1p36 Deletion Syndrome or affiliated genes

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MGI Mouse Phenotypes related to 1p36 Deletion Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.2GABRD, KCNAB2
2MP:00036318.0SKI, GABRD, PRDM16, KCNAB2
3MP:00107687.8KCNAB2, PRDM16, GABRD, SKI

Publications for 1p36 Deletion Syndrome

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Articles related to 1p36 Deletion Syndrome:

(show all 30)
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
Left ventricular noncompaction cardiomyopathy: adult association with 1p36 deletion syndrome. (25624984)
2014
6
Novel airway findings in a patient with 1p36 deletion syndrome. (24290305)
2014
7
Growth patterns of patients with 1p36 deletion syndrome. (24750553)
2014
8
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
9
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. (23768516)
2013
10
Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome. (24311364)
2013
11
Multiple causes of apnea in 1p36 deletion syndrome include seizures. (22425009)
2012
12
Dying at 23 with 1p36 deletion syndrome: Laura's family story. (24020340)
2012
13
A case of 1p36 deletion syndrome accompanied with anomalous arrangement of the pancreaticobiliary duct. (21160384)
2011
14
Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome. (20708863)
2011
15
Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome. (21480478)
2011
16
Chromosome 1p36 deletion syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings. (21199750)
2010
17
1p36 deletion syndrome associated with Prader-Willi-like phenotype. (20113418)
2010
18
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
19
Spectrum of epilepsy in terminal 1p36 deletion syndrome. (18031548)
2008
20
Monosomy 1p36 deletion syndrome. (17918734)
2007
21
Effect of carbamazepine on epilepsy with 1p36 deletion syndrome]. (17633087)
2007
22
Pemphigus vulgaris in a patient with 1p36 deletion syndrome. (17052548)
2006
23
1p36 deletion syndrome with intestinal malrotation and annular pancreas. (15717182)
2005
24
Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome. (16023556)
2005
25
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
26
Revisit on a distinctive chromosome 1p36 deletion syndrome: report of one case and review of the English literature. (15301904)
2004
27
A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy. (12376748)
2002
28
Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice. (11731796)
2002
29
Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome. (11580756)
2001
30
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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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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcriptional repressor complexGO:00170539.3SKI, PRDM16

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

idNameGO IDScoreTop Affiliating Genes
1somatic stem cell maintenanceGO:00350199.4SKI, PRDM16
2palate developmentGO:00600219.3PRDM16, SKI
3negative regulation of transcription from RNA polymerase II promoterGO:00001229.3SKI, PRDM16
4negative regulation of transforming growth factor beta receptor signaling pathwayGO:00305129.2PRDM16, SKI
5synaptic transmissionGO:00072688.9GABRD, KCNAB2

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

idNameGO IDScoreTop Affiliating Genes
1SMAD bindingGO:00463329.3SKI, PRDM16

Products for genes affiliated with 1p36 Deletion Syndrome

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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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet