MCID: CHR222
MIFTS: 49

Chromosome 1p36 Deletion Syndrome

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Chromosome 1p36 Deletion Syndrome

MalaCards integrated aliases for Chromosome 1p36 Deletion Syndrome:

Name: Chromosome 1p36 Deletion Syndrome 56 12 52 25 29 13 6 43 15 71
1p36 Deletion Syndrome 12 74 52 25 58 36
Monosomy 1p36 Syndrome 56 52 25
Subtelomeric 1p36 Deletion 12 58
Deletion 1p36 12 58
Monosomy 1p36 12 58
Distal Monosomy 1p36 25
Deletion 1pter 58
Monosomy 1pter 58
Del(1)(p36) 58

Characteristics:

Orphanet epidemiological data:

58
1p36 deletion syndrome
Inheritance: Not applicable; Prevalence: 1-5/10000 (United States); Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM:

56
Miscellaneous:
variable phenotype
contiguous gene deletion syndrome
marked variability in the deletion size
most common terminal deletion syndrome
incidence of 1 in 5,000 to 1 in 10,000

Inheritance:
isolated cases


HPO:

31
chromosome 1p36 deletion syndrome:
Inheritance sporadic


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060410
OMIM 56 607872
KEGG 36 H01792
MeSH 43 C535362
NCIt 49 C74983
ICD10 via Orphanet 33 Q93.5
UMLS via Orphanet 72 C1842870
Orphanet 58 ORPHA1606
MedGen 41 C1842870
UMLS 71 C1842870

Summaries for Chromosome 1p36 Deletion Syndrome

NIH Rare Diseases : 52 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 syndrome. Treatment depends on the symptoms, and may include rehabilitation/educational programs, antiepileptic medication, and standard treatment for heart, kidney, eye, hearing or bone problems.

MalaCards based summary : Chromosome 1p36 Deletion Syndrome, also known as 1p36 deletion syndrome, is related to neurodevelopmental disorder with or without anomalies of the brain, eye, or heart and peroxisome biogenesis disorder 6a, and has symptoms including seizures An important gene associated with Chromosome 1p36 Deletion Syndrome is DEL1P36 (Chromosome 1p36 Deletion Syndrome), and among its related pathways/superpathways is Potassium Channels. Affiliated tissues include heart, eye and brain, and related phenotypes are agenesis of corpus callosum and intellectual disability

Genetics Home Reference : 25 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). People with 1p36 deletion syndrome have a small head that is also unusually short and wide in proportion to its size (microbrachycephaly). Affected individuals also have distinctive facial features including deep-set eyes with straight eyebrows; a sunken appearance of the middle of the face (midface hypoplasia); a broad, flat nose; a long area between the nose and mouth (philtrum); a pointed chin; and ears that are low-set, rotated backwards, and abnormally shaped. People with 1p36 deletion syndrome may have vision or hearing problems. Some have abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or genitalia.

OMIM : 56 The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental retardation (Shapira et al., 1997). Monosomy 1p36 is the most common terminal deletion syndrome in humans, occurring in 1 in 5,000 births (Shaffer and Lupski, 2000; Heilstedt et al., 2003). See also neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH; 616975), which shows overlapping features and is caused by heterozygous mutation in the RERE gene (605226) on proximal chromosome 1p36. (607872)

KEGG : 36 1p36 deletion syndrome is is a recently delineated disorder, considered to be the most common subtelomeric microdeletion syndrome. 1p36 deletion syndrome is characterized by typical craniofacial features consisting of straight eyebrows, deep-set eyes, midface hypoplasia, wide and depressed nasal bridge, long philtrum, and pointed chin. Developmental delay/intellectual disability of variable degree and hypotonia are present in almost all patients. Seizures occur in around half of affected individuals. Other findings include structural brain abnormalities, congenital heart defects, eye/vision problems, hearing loss, skeletal anomalies, abnormalities of the external genitalia, and renal abnormalities. There is significant phenotypic variation among affected individuals. This variation is due, at least in part, to the genetic heterogeneity seen in 1p36 deletions which include terminal and interstitial deletions of varying lengths.

Wikipedia : 74 1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual... more...

Related Diseases for Chromosome 1p36 Deletion Syndrome

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

(show top 50) (show all 102)
# Related Disease Score Top Affiliating Genes
1 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 11.3
2 peroxisome biogenesis disorder 6a 10.4 PLCH2 PEX10
3 peroxisome biogenesis disorder 6b 10.3 PLCH2 PEX10
4 alacrima, achalasia, and mental retardation syndrome 10.3
5 peroxisome biogenesis disorder 1a 10.2 PLCH2 PEX10
6 west syndrome 10.2
7 ohdo syndrome, sbbys variant 10.2
8 congenital hypothyroidism 10.2
9 blepharophimosis 10.2
10 lysosomal storage disease 10.2
11 ohdo syndrome, say-barber-biesecker-young-simpson variant 10.2
12 prader-willi syndrome 10.2
13 microcephaly 10.2
14 hypotonia 10.2
15 episodic ataxia, type 1 10.1 KCNAB2 KCNAB1
16 atrial standstill 1 10.1
17 dilated cardiomyopathy 10.1
18 hydrocephalus, congenital, 1 10.1
19 myopathy, congenital, with fiber-type disproportion 10.0
20 cardiac arrest 10.0
21 left ventricular noncompaction 10.0
22 visual epilepsy 10.0
23 seizure disorder 10.0
24 acanthosis nigricans 10.0
25 body mass index quantitative trait locus 11 10.0
26 body mass index quantitative trait locus 9 10.0
27 body mass index quantitative trait locus 8 10.0
28 body mass index quantitative trait locus 1 10.0
29 body mass index quantitative trait locus 4 10.0
30 body mass index quantitative trait locus 10 10.0
31 body mass index quantitative trait locus 7 10.0
32 body mass index quantitative trait locus 12 10.0
33 body mass index quantitative trait locus 14 10.0
34 leptin deficiency or dysfunction 10.0
35 body mass index quantitative trait locus 18 10.0
36 body mass index quantitative trait locus 19 10.0
37 body mass index quantitative trait locus 20 10.0
38 hypothyroidism 10.0
39 epilepsy 10.0
40 orofacial clefting syndrome 10.0
41 syndromic obesity 10.0
42 hypercholesterolemia, familial, 1 10.0
43 corpus callosum, agenesis of 10.0
44 duodenal atresia 10.0
45 cantu syndrome 10.0
46 ocular motor apraxia 10.0
47 aicardi syndrome 10.0
48 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
49 periventricular nodular heterotopia 10.0
50 non-alcoholic steatohepatitis 10.0

Graphical network of the top 20 diseases related to Chromosome 1p36 Deletion Syndrome:



Diseases related to Chromosome 1p36 Deletion Syndrome

Symptoms & Phenotypes for Chromosome 1p36 Deletion Syndrome

Human phenotypes related to Chromosome 1p36 Deletion Syndrome:

58 31 (show top 50) (show all 150)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0001274
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
4 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
5 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
6 muscular hypotonia 58 31 very rare (1%) Very frequent (99-80%) HP:0001252
7 global developmental delay 58 31 very rare (1%) Very frequent (99-80%) HP:0001263
8 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
9 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
10 cerebral cortical atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002120
11 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
12 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
13 short foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001773
14 absent speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001344
15 ventriculomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002119
16 deeply set eye 58 31 very rare (1%) Very frequent (99-80%) HP:0000490
17 poor speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0002465
18 pointed chin 58 31 very rare (1%) Very frequent (99-80%) HP:0000307
19 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
20 horizontal eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0011228
21 seizures 58 31 very rare (1%) Frequent (79-30%) HP:0001250
22 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
23 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
24 self-injurious behavior 58 31 frequent (33%) Frequent (79-30%) HP:0100716
25 depressed nasal bridge 58 31 very rare (1%) Frequent (79-30%) HP:0005280
26 microcephaly 58 31 very rare (1%) Frequent (79-30%) HP:0000252
27 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
28 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
29 stereotypy 58 31 frequent (33%) Frequent (79-30%) HP:0000733
30 brachycephaly 58 31 very rare (1%) Frequent (79-30%) HP:0000248
31 strabismus 58 31 very rare (1%) Frequent (79-30%) HP:0000486
32 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
33 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
34 autism 58 31 frequent (33%) Frequent (79-30%) HP:0000717
35 depressed nasal ridge 58 31 very rare (1%) Frequent (79-30%) HP:0000457
36 clinodactyly of the 5th finger 58 31 very rare (1%) Frequent (79-30%) HP:0004209
37 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
38 high hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0008499
39 delayed cranial suture closure 58 31 frequent (33%) Frequent (79-30%) HP:0000270
40 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
41 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
42 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
43 nystagmus 58 31 very rare (1%) Occasional (29-5%) HP:0000639
44 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
45 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
46 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
47 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
48 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
49 microtia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008551
50 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
posteriorly rotated ears
thickened helices
sensorineural hearing loss
asymmetric ears

Skeletal Spine:
scoliosis

Endocrine Features:
hypothyroidism

Skeletal Feet:
brachydactyly
pes cavus
short feet
prominent heels

Head And Neck Head:
microcephaly
brachycephaly
delayed closure of fontanel
large anterior fontanel

Head And Neck Mouth:
cleft palate
bifid uvula
cleft lip
high-arched palate
submucous cleft

Chest Ribs Sternum Clavicles And Scapulae:
bifid ribs
missing ribs
fused ribs

Skeletal:
flexion contractures

Abdomen Gastrointestinal:
feeding problems (infancy)
gastroesophageal reflux (infancy)

Growth Other:
growth retardation, pre- and postnatal

Neurologic Central Nervous System:
seizures
hydrocephalus
global developmental delay
ventriculomegaly
polymicrogyria
more
Head And Neck Eyes:
nystagmus
strabismus
myopia
optic nerve coloboma
hypermetropia
more
Skeletal Hands:
brachydactyly
fifth finger clinodactyly
short fifth finger

Cardiovascular Heart:
ventricular septal defect
atrial septal defect
noncompaction cardiomyopathy
dilated cardiomyopathy (infancy)

Head And Neck Face:
prominent forehead
long philtrum
pointed chin
midface hypoplasia

Cardiovascular Vascular:
patent ductus arteriosus
dilated aortic root

Head And Neck Nose:
flat nasal bridge
flat nose

Neurologic Behavioral Psychiatric Manifestations:
hyperphagia
behavioral disorders

Growth Weight:
obesity (after infancy)

Laboratory Abnormalities:
partial terminal deletion of short arm of chromosome 1 (1p36)

Clinical features from OMIM:

607872

UMLS symptoms related to Chromosome 1p36 Deletion Syndrome:


seizures

MGI Mouse Phenotypes related to Chromosome 1p36 Deletion Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.36 AJAP1 GABRD GNB1 KCNAB1 KCNAB2 LUZP1

Drugs & Therapeutics for Chromosome 1p36 Deletion Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phenotypic Characterization and Array CGH Analysis in Patients With Syndromic Obesity of Unknown Etiology Completed NCT01043198
2 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Chromosome 1p36 Deletion Syndrome

Cochrane evidence based reviews: chromosome 1p36 deletion syndrome

Genetic Tests for Chromosome 1p36 Deletion Syndrome

Genetic tests related to Chromosome 1p36 Deletion Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 1p36 Deletion Syndrome 29

Anatomical Context for Chromosome 1p36 Deletion Syndrome

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

40
Heart, Eye, Brain, Kidney, Bone, Pancreas, Liver

Publications for Chromosome 1p36 Deletion Syndrome

Articles related to Chromosome 1p36 Deletion Syndrome:

(show top 50) (show all 101)
# Title Authors PMID Year
1
Loss of PRDM16 is unlikely to cause cardiomyopathy in 1p36 deletion syndrome. 61 56
24387995 2014
2
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. 61 56
23768516 2013
3
Left ventricular noncompaction: a rare disorder in adults and its association with 1p36 chromosomal anomaly. 61 56
20034097 2010
4
Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy. 61 56
19842196 2009
5
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. 61 56
18245432 2008
6
1p36 Deletion Syndrome 61 6
20301370 2008
7
Monosomy 1p36 deletion syndrome. 61 56
17918734 2007
8
The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression. 61 56
12119096 2002
9
Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. 6
27467454 2016
10
Reponse to De Leeuw and Houge. 56
24387996 2014
11
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. 56
23420520 2013
12
Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions. 56
20635359 2010
13
OEIS complex associated with chromosome 1p36 deletion: a case report and review. 56
20101692 2010
14
Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia. 56
20034100 2010
15
Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literature. 56
19006213 2008
16
A new case of proximal monosomy 1p36, extending the phenotype. 56
18627049 2008
17
Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia. 56
16835933 2006
18
A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome. 56
16278903 2005
19
Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome? 56
15689456 2005
20
MICRO syndrome: an entity distinct from COFS syndrome. 56
15216543 2004
21
Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality. 56
12974736 2003
22
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. 56
12687501 2003
23
Terminal deletion of 1p36. 56
11784558 2001
24
Molecular mechanisms for constitutional chromosomal rearrangements in humans. 56
11092830 2000
25
Monosomy 1p36. 56
10507720 1999
26
Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. 56
9326330 1997
27
Prenatal findings in 1p36 deletion syndrome: New cases and a literature review. 61
31172545 2019
28
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy. 61
31207089 2019
29
Prenatal detection of 1p36 deletion syndrome: ultrasound findings and microarray testing results. 61
31446820 2019
30
Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome. 61
31662930 2019
31
Cutis laxa in a patient with 1p36 deletion syndrome. 61
29611295 2018
32
Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2. 61
29928183 2018
33
1p deletion syndrome: A prenatal diagnosis characterized by an abnormal 1st trimester combined screening test, yet a normal NIPT result. 61
29458877 2018
34
A Novel Case of Biliary Atresia in a Premature Neonate With 1p36 Deletion Syndrome. 61
30057923 2018
35
Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review. 61
29212048 2018
36
[Prenatal diagnosis of two fetuses with chromosome 1p36 deletion syndrome]. 61
29188615 2017
37
Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory. 61
29032050 2017
38
Case report of Pierre Robin sequence with severe upper airway obstruction who was rescued by fiberoptic nasotracheal intubation. 61
28288578 2017
39
Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome. 61
27629806 2017
40
Abdominal paraganglioma in a young woman with 1p36 deletion syndrome. 61
27774766 2017
41
1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis. 61
28018437 2016
42
[An updated review of 1p36 deletion (monosomy) syndrome]. 61
26875550 2016
43
Is 1p36 deletion associated with anterior body wall defects? 61
27144803 2016
44
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. 61
27087320 2016
45
Mini-Review: Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes. 61
26910004 2016
46
Screening for Subtelomeric Rearrangements in Thai Patients with Intellectual Disabilities Using FISH and Review of Literature on Subtelomeric FISH in 15,591 Cases with Intellectual Disabilities. 61
27822388 2016
47
Detection of 1p36 deletion by clinical exome-first diagnostic approach. 61
28428889 2016
48
Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay. 61
26893599 2016
49
Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies. 61
26040972 2015
50
Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications. 61
25172301 2015

Variations for Chromosome 1p36 Deletion Syndrome

ClinVar genetic disease variations for Chromosome 1p36 Deletion Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 99 genes: GNB1 GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)copy number loss Pathogenic 625766 1:823964-6828363
2 subset of 73 genes: GNB1 GRCh37/hg19 1p36.33-36.32(chr1:568708-3662949)copy number loss Pathogenic 625767 1:568708-3662949
3 subset of 64 genes: GNB1 GRCh37/hg19 1p36.33-36.32(chr1:568708-2567832)copy number loss Pathogenic 625768 1:568708-2567832
4 subset of 22 genes: GNB1 GRCh37/hg19 1p36.33-36.32(chr1:1723651-3444846)x1copy number loss Pathogenic 666432 1:1723651-3444846

Copy number variations for Chromosome 1p36 Deletion Syndrome from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 13744 1 1 27800000 Deletion GABRD 1p36 deletion syndrome
2 13745 1 1 27800000 Deletion GNB1 1p36 deletion syndrome
3 13746 1 1 27800000 Deletion TNFRSF4 1p36 deletion syndrome
4 13816 1 1 7100000 Deletion 1p36 deletion syndrome

Expression for Chromosome 1p36 Deletion Syndrome

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

Pathways for Chromosome 1p36 Deletion Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.97 KCNAB2 KCNAB1 GNB1

GO Terms for Chromosome 1p36 Deletion Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 juxtaparanode region of axon GO:0044224 8.62 KCNAB2 KCNAB1

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

# Name GO ID Score Top Affiliating Genes
1 regulation of potassium ion transmembrane transport GO:1901379 8.62 KCNAB2 KCNAB1

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

# Name GO ID Score Top Affiliating Genes
1 aldo-keto reductase (NADP) activity GO:0004033 8.96 KCNAB2 KCNAB1
2 potassium channel regulator activity GO:0015459 8.8 PRKCZ KCNAB2 KCNAB1

Sources for Chromosome 1p36 Deletion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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