MCID: 1P3001
MIFTS: 38

1p36 Deletion Syndrome malady

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

Aliases & Classifications for 1p36 Deletion Syndrome

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Sources:
23Genetics Home Reference, 65UMLS, 68Wikipedia, 21GeneReviews, 22GeneTests, 51Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for 1p36 Deletion Syndrome:

Name: 1p36 Deletion Syndrome 68 21 22 23 51
Monosomy 1p36 Syndrome 68 21 22 23
Chromosome 1p36 Deletion Syndrome 23 65
Subtelomeric 1p36 Deletion 51
Distal Monosomy 1p36 23
 
Monosomy 1pter 51
Deletion 1pter 51
Monosomy 1p36 51
Deletion 1p36 51
Del(1)(p36) 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
1p36 deletion syndrome:
Inheritance: Not applicable; Prevalence: 1-5/10000 (United States); Age of onset: Antenatal,Neonatal; Age of death: any age


External Ids:

Orphanet51 1606
ICD10 via Orphanet28 Q93.5
UMLS via Orphanet66 C1842870

Summaries for 1p36 Deletion Syndrome

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Genetics Home Reference:23 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 cardiomyopathy, 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 SKI (SKI Proto-Oncogene). Affiliated tissues include brain, testes and liver, and related mouse phenotype nervous system.

GeneReviews summary for del1p36

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 20)
idRelated DiseaseScoreTop Affiliating Genes
1chromosome 1p36 deletion syndrome10.7
2cardiomyopathy10.4
3duodenitis10.3
4duodenal atresia10.3
5lysosomal storage disease10.3
6morbid obesity10.2
7obesity10.2
8smith-magenis syndrome10.2
9pemphigus vulgaris10.2
10pemphigus10.2
11hyperinsulinism10.2
12dermatitis10.2
13myopathy10.2
14congenital fiber-type disproportion10.2
15polymicrogyria10.2
16annular pancreas10.2
17left ventricular noncompaction10.2
18angelman syndrome10.2
19aicardi syndrome10.2
2018p deletion syndrome9.2DEL1P36, GABRD, KCNAB2, PRDM16, SKI

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:

 51 (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

Drugs & Therapeutics for 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 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 Syndrome22

Anatomical Context for 1p36 Deletion Syndrome

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MalaCards organs/tissues related to 1p36 Deletion Syndrome:

33
Brain, Testes, Liver, Eye, Skin, Pancreas, Kidney

Animal Models for 1p36 Deletion Syndrome or affiliated genes

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MGI Mouse Phenotypes related to 1p36 Deletion Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.1GABRD, KCNAB2, PRDM16, SKI

Publications for 1p36 Deletion Syndrome

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Articles related to 1p36 Deletion Syndrome:

(show all 30)
idTitleAuthorsYear
1
1p36 deletion syndrome: an update. (26345236)
2015
2
Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome. (24985706)
2014
3
Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications. (25172301)
2014
4
Loss of PRDM16 Is Unlikely to Cause Cardiomyopathy in 1p36 Deletion Syndrome. (24387995)
2014
5
Dermatitis artefacta presenting as a recurrent skin eruption in a patient with 1p36 deletion syndrome. (24433376)
2014
6
Left ventricular noncompaction cardiomyopathy: adult association with 1p36 deletion syndrome. (25624984)
2014
7
Novel airway findings in a patient with 1p36 deletion syndrome. (24290305)
2014
8
Growth patterns of patients with 1p36 deletion syndrome. (24750553)
2014
9
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
10
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. (23768516)
2013
11
Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome. (24311364)
2013
12
Multiple causes of apnea in 1p36 deletion syndrome include seizures. (22425009)
2012
13
Dying at 23 with 1p36 deletion syndrome: Laura's family story. (24020340)
2012
14
A case of 1p36 deletion syndrome accompanied with anomalous arrangement of the pancreaticobiliary duct. (21160384)
2011
15
Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome. (20708863)
2011
16
Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome. (21480478)
2011
17
Chromosome 1p36 deletion syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings. (21199750)
2010
18
1p36 deletion syndrome associated with Prader-Willi-like phenotype. (20113418)
2010
19
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
20
Spectrum of epilepsy in terminal 1p36 deletion syndrome. (18031548)
2008
21
Monosomy 1p36 deletion syndrome. (17918734)
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
Revisit on a distinctive chromosome 1p36 deletion syndrome: report of one case and review of the English literature. (15301904)
2004
26
A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy. (12376748)
2002
27
Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice. (11731796)
2002
28
Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome. (11580756)
2001
29
Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions. (9931339)
1999
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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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:00170539.4PRDM16, SKI

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of transforming growth factor beta receptor signaling pathwayGO:00305129.4PRDM16, SKI
2palate developmentGO:00600219.4PRDM16, SKI
3somatic stem cell population maintenanceGO:00350199.3PRDM16, SKI

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

idNameGO IDScoreTop Affiliating Genes
1SMAD bindingGO:00463329.4PRDM16, SKI

Sources for 1p36 Deletion Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet