MCID: 1P3001
MIFTS: 48

1p36 Deletion Syndrome malady

Neuronal diseases, Fetal diseases categories

Summaries for 1p36 Deletion Syndrome

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Sources:
21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: 1p36 Deletion Syndrome, also known as monosomy 1p36 syndrome, is related to chromosome 1p36 deletion syndrome and epilepsy syndrome, and has symptoms including clitoris/labia majora/labia minora/female external genitalia hypoplasia, eyebrows anomalies and megaureter/hydronephrosis/pyeloureteral junction syndrome. An important gene associated with 1p36 Deletion Syndrome is GABRD (gamma-aminobutyric acid (GABA) A receptor, delta). Affiliated tissues include brain, liver and testes, and related mouse phenotype nervous system.

Wikipedia:63 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:
63Wikipedia, 19GeneReviews, 20GeneTests, 21Genetics Home Reference, 48Orphanet, 46OMIM, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

1p36 deletion syndrome 63 19 20 21 48 46
monosomy 1p36 syndrome 63 19 21
chromosome 1, 1p36 deletion syndrome 60
chromosome 1p36 deletion syndrome 21
subtelomeric 1p36 deletion 48
gene deletion abnormality 60
distal monosomy 1p36 21
chromosome deletion 60
monosomy 1pter 48
deletion 1pter 48
monosomy 1p36 48
deletion 1p36 48
del(1)(p36) 48


External Ids:

OMIM46 607872
ICD10 via Orphanet26 Q93.5

Related Diseases for 1p36 Deletion Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to 1p36 Deletion Syndrome:



Diseases related to 1p36 deletion syndrome

Clinical Features for 1p36 Deletion Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

607872

Clinical synopsis from OMIM:

607872

Symptoms:

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

Drugs & Therapeutics for 1p36 Deletion Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for 1p36 Deletion Syndrome

Drug clinical trials:

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Search NIH Clinical Center for 1p36 Deletion Syndrome

Search CenterWatch for 1p36 Deletion Syndrome

Genetic Tests for 1p36 Deletion Syndrome

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20GeneTests
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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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32MalaCards
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MalaCards organs/tissues related to 1p36 Deletion Syndrome:

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

Animal Models for 1p36 Deletion Syndrome or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to 1p36 Deletion Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.0SKI, PRDM16, GABRD, KCNAB2

Publications for 1p36 Deletion Syndrome

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Sources:
50PubMed
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Articles related to 1p36 Deletion Syndrome:

(show all 27)
idTitleAuthorsYear
1
Loss of PRDM16 Is Unlikely to Cause Cardiomyopathy in 1p36 Deletion Syndrome. (24387995)
2014
2
Dermatitis artefacta presenting as a recurrent skin eruption in a patient with 1p36 deletion syndrome. (24433376)
2014
3
Novel airway findings in a patient with 1p36 deletion syndrome. (24290305)
2014
4
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. (23768516)
2013
5
Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome. (24311364)
2013
6
Multiple causes of apnea in 1p36 deletion syndrome include seizures. (22425009)
2012
7
Dying at 23 with 1p36 deletion syndrome: Laura's family story. (24020340)
2012
8
A case of 1p36 deletion syndrome accompanied with anomalous arrangement of the pancreaticobiliary duct. (21160384)
2011
9
Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome. (20708863)
2011
10
Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome. (21480478)
2011
11
Chromosome 1p36 deletion syndrome: prenatal diagnosis, molecular cytogenetic characterization and fetal ultrasound findings. (21199750)
2010
12
1p36 deletion syndrome associated with Prader-Willi-like phenotype. (20113418)
2010
13
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
14
Spectrum of epilepsy in terminal 1p36 deletion syndrome. (18031548)
2008
15
Monosomy 1p36 deletion syndrome. (17918734)
2007
16
Effect of carbamazepine on epilepsy with 1p36 deletion syndrome]. (17633087)
2007
17
Pemphigus vulgaris in a patient with 1p36 deletion syndrome. (17052548)
2006
18
1p36 deletion syndrome with intestinal malrotation and annular pancreas. (15717182)
2005
19
Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome. (16023556)
2005
20
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
21
Revisit on a distinctive chromosome 1p36 deletion syndrome: report of one case and review of the English literature. (15301904)
2004
22
A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy. (12376748)
2002
23
Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice. (11731796)
2002
24
Refined FISH characterization of a de novo 1p22-p36.2 paracentric inversion and associated 1p21-22 deletion in a patient with signs of 1p36 microdeletion syndrome. (11251998)
2001
25
Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome. (11580756)
2001
26
Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions. (9931339)
1999
27
1p36 Deletion Syndrome (20301370)
1993

Genetic Variations for 1p36 Deletion Syndrome

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Expression for genes affiliated with 1p36 Deletion Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with 1p36 Deletion Syndrome

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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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16Gene Ontology
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Cellular components related to 1p36 Deletion Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcriptional repressor complexGO:0170539.0SKI, PRDM16

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

idNameGO IDScoreTop Affiliating Genes
1synaptic transmissionGO:0072689.4GABRD, KCNAB2
2somatic stem cell maintenanceGO:0350199.0SKI, PRDM16
3palate developmentGO:0600218.9SKI, PRDM16
4negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305128.7SKI, PRDM16

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

idNameGO IDScoreTop Affiliating Genes
1SMAD bindingGO:0463329.0SKI, PRDM16

Products for genes affiliated with 1p36 Deletion Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet