MCID: UNP013
MIFTS: 25

Uniparental Disomy of Chromosome 1

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Uniparental Disomy of Chromosome 1

MalaCards integrated aliases for Uniparental Disomy of Chromosome 1:

Name: Uniparental Disomy of Chromosome 1 59
Upd(1) 59

Classifications:



External Ids:

Orphanet 59 ORPHA263019

Summaries for Uniparental Disomy of Chromosome 1

MalaCards based summary : Uniparental Disomy of Chromosome 1, also known as upd(1), is related to maternal uniparental disomy of chromosome 1 and epidermolysis bullosa. An important gene associated with Uniparental Disomy of Chromosome 1 is HMGCL (3-Hydroxy-3-Methylglutaryl-CoA Lyase), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include brain and thyroid, and related phenotypes are craniofacial and digestive/alimentary

Related Diseases for Uniparental Disomy of Chromosome 1

Diseases in the Uniparental Disomy of Chromosome 1 family:

Chromosome 1, Uniparental Disomy 1q12 Q21 Chromosome 10, Uniparental Disomy
Chromosome 16, Uniparental Disomy Chromosome 21, Uniparental Disomy
Chromosome 5, Uniparental Disomy Uniparental Disomy of Chromosome 11
Uniparental Disomy of Chromosome 2 Uniparental Disomy of Chromosome 6
Uniparental Disomy of Chromosome 15 Uniparental Disomy of Chromosome 20
Uniparental Disomy of Chromosome 13 Uniparental Disomy of Chromosome 14
Uniparental Disomy of Chromosome 7

Diseases related to Uniparental Disomy of Chromosome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 maternal uniparental disomy of chromosome 1 32.6 LAMC2 LAMB3 LAMA3
2 epidermolysis bullosa 28.6 LAMC2 LAMB3 LAMA3
3 junctional epidermolysis bullosa 28.3 LAMC2 LAMB3 LAMA3
4 paternal uniparental disomy of chromosome 1 12.5
5 maternal uniparental disomy 10.3
6 autosomal recessive disease 10.2
7 neuronal ceroid lipofuscinosis 10.2
8 charcot-marie-tooth disease, demyelinating, type 1b 10.1
9 autism 10.1
10 gaucher disease, type i 10.1
11 gaucher disease, type iii 10.1
12 3-hydroxy-3-methylglutaryl-coa lyase deficiency 10.1
13 carbonic anhydrase va deficiency, hyperammonemia due to 10.1
14 metabolic acidosis 10.1
15 hypogonadotropic hypogonadism 10.1
16 hypogonadism 10.1
17 gaucher's disease 10.1
18 hypogonadotropism 10.1
19 hypoglycemia 10.1
20 epidermolysis bullosa with pyloric atresia 10.1
21 hypothalamic obesity 10.1
22 cicatricial pemphigoid 9.7 LAMC2 LAMA3
23 vesiculobullous skin disease 9.1 LAMC2 LAMB3 LAMA3
24 skin disease 9.0 LAMC2 LAMB3 LAMA3
25 epidermolysis bullosa, junctional, herlitz type 9.0 LAMC2 LAMB3 LAMA3
26 epidermolysis bullosa, junctional, non-herlitz type 8.9 LAMC2 LAMB3 LAMA3
27 bullous pemphigoid 8.6 LAMC2 LAMB3 LAMA3

Graphical network of the top 20 diseases related to Uniparental Disomy of Chromosome 1:



Diseases related to Uniparental Disomy of Chromosome 1

Symptoms & Phenotypes for Uniparental Disomy of Chromosome 1

MGI Mouse Phenotypes related to Uniparental Disomy of Chromosome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.43 LAMA3 LAMB3 LAMC2
2 digestive/alimentary MP:0005381 9.33 LAMA3 LAMB3 LAMC2
3 growth/size/body region MP:0005378 9.26 HMGCL LAMA3 LAMB3 LAMC2
4 respiratory system MP:0005388 8.8 LAMA3 LAMB3 LAMC2

Drugs & Therapeutics for Uniparental Disomy of Chromosome 1

Search Clinical Trials , NIH Clinical Center for Uniparental Disomy of Chromosome 1

Genetic Tests for Uniparental Disomy of Chromosome 1

Anatomical Context for Uniparental Disomy of Chromosome 1

MalaCards organs/tissues related to Uniparental Disomy of Chromosome 1:

41
Brain, Thyroid

Publications for Uniparental Disomy of Chromosome 1

Articles related to Uniparental Disomy of Chromosome 1:

(show all 28)
# Title Authors PMID Year
1
Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation. 38
30916492 2019
2
Effects of unpaired 1 gene overexpression on the lifespan of Drosophila melanogaster. 38
30836998 2019
3
Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorder. 38
30560016 2018
4
Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1. 38
27639779 2017
5
Reply to: Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1. 38
27616753 2017
6
Gene expression of T3-regulated genes in a mouse model of the human thyroid hormone resistance. 38
27919825 2017
7
Influence of Quercetin in the Temporal Regulation of Redox Homeostasis in Drosophila melanogaster. 38
28931163 2017
8
A Leptin Analog Locally Produced in the Brain Acts via a Conserved Neural Circuit to Modulate Obesity-Linked Behaviors in Drosophila. 38
28076762 2017
9
Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy. 38
27184211 2016
10
Remote Control of Intestinal Stem Cell Activity by Haemocytes in Drosophila. 38
27231872 2016
11
JAK/STAT signaling in Drosophila muscles controls the cellular immune response against parasitoid infection. 38
26412855 2015
12
Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. 38
25872961 2015
13
CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort. 38
23756439 2014
14
Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. 38
24639906 2014
15
A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease. 38
23684670 2013
16
Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C. 38
23804595 2013
17
Homozygous leptin receptor mutation due to uniparental disomy of chromosome 1: response to bariatric surgery. 38
23275530 2013
18
Autocrine and paracrine unpaired signaling regulate intestinal stem cell maintenance and division. 38
23038775 2012
19
Obesity in pycnodysostosis due to UPD1: possible effect of an imprinted gene on chromosome 1. 38
21567920 2011
20
Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3. 38
18347322 2008
21
The endocytic control of JAK/STAT signalling in Drosophila. 38
17855388 2007
22
Zellweger syndrome resulting from maternal isodisomy of chromosome 1. 38
17702006 2007
23
Unusual clinical severity of complement membrane cofactor protein-associated hemolytic-uremic syndrome and uniparental isodisomy. 38
17261436 2007
24
A case of autism and uniparental disomy of chromosome 1. 38
15887000 2005
25
Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for chromosome 1. 38
11754053 2001
26
Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects. 38
9758608 1998
27
Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. 38
9529353 1998
28
Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa. 38
9326326 1997

Variations for Uniparental Disomy of Chromosome 1

Expression for Uniparental Disomy of Chromosome 1

Search GEO for disease gene expression data for Uniparental Disomy of Chromosome 1.

Pathways for Uniparental Disomy of Chromosome 1

Pathways related to Uniparental Disomy of Chromosome 1 according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.88 LAMC2 LAMB3 LAMA3
2
Show member pathways
12.63 LAMC2 LAMB3 LAMA3
3
Show member pathways
12.56 LAMC2 LAMB3 LAMA3
4
Show member pathways
12.48 LAMC2 LAMB3 LAMA3
5 12.39 LAMC2 LAMB3 LAMA3
6
Show member pathways
12.38 LAMC2 LAMB3 LAMA3
7
Show member pathways
12.33 LAMC2 LAMB3 LAMA3
8
Show member pathways
12.26 LAMC2 LAMB3 LAMA3
9
Show member pathways
12.2 LAMC2 LAMB3 LAMA3
10
Show member pathways
12 LAMC2 LAMB3 LAMA3
11
Show member pathways
11.8 LAMC2 LAMB3 LAMA3
12
Show member pathways
11.77 LAMC2 LAMB3 LAMA3
13
Show member pathways
11.63 LAMC2 LAMB3 LAMA3
14 11.34 LAMC2 LAMB3 LAMA3
15 11.1 LAMC2 LAMB3 LAMA3
16 10.59 LAMC2 LAMB3 LAMA3
17 10.58 LAMC2 LAMB3 LAMA3

GO Terms for Uniparental Disomy of Chromosome 1

Cellular components related to Uniparental Disomy of Chromosome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.16 LAMC2 LAMA3
2 basement membrane GO:0005604 9.13 LAMC2 LAMB3 LAMA3
3 laminin-5 complex GO:0005610 8.62 LAMB3 LAMA3

Biological processes related to Uniparental Disomy of Chromosome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.5 LAMC2 LAMB3 LAMA3
2 extracellular matrix organization GO:0030198 9.33 LAMC2 LAMB3 LAMA3
3 endodermal cell differentiation GO:0035987 9.26 LAMB3 LAMA3
4 epidermis development GO:0008544 9.13 LAMC2 LAMB3 LAMA3
5 hemidesmosome assembly GO:0031581 8.8 LAMC2 LAMB3 LAMA3

Molecular functions related to Uniparental Disomy of Chromosome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 8.96 LAMB3 LAMA3
2 extracellular matrix structural constituent GO:0005201 8.62 LAMC2 LAMA3

Sources for Uniparental Disomy of Chromosome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....