MCID: MTR051
MIFTS: 29

Maternal Uniparental Disomy of Chromosome 1

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Maternal Uniparental Disomy of Chromosome 1

MalaCards integrated aliases for Maternal Uniparental Disomy of Chromosome 1:

Name: Maternal Uniparental Disomy of Chromosome 1 58
Upd(1)mat 58

Characteristics:

Orphanet epidemiological data:

58
maternal uniparental disomy of chromosome 1
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Maternal Uniparental Disomy of Chromosome 1

MalaCards based summary : Maternal Uniparental Disomy of Chromosome 1, also known as upd(1)mat, is related to maternal uniparental disomy and uniparental disomy of chromosome 1. An important gene associated with Maternal Uniparental Disomy of Chromosome 1 is LAMA3 (Laminin Subunit Alpha 3), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include bone, and related phenotypes are failure to thrive and nystagmus

Related Diseases for Maternal Uniparental Disomy of Chromosome 1

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



Diseases related to Maternal Uniparental Disomy of Chromosome 1

Symptoms & Phenotypes for Maternal Uniparental Disomy of Chromosome 1

Human phenotypes related to Maternal Uniparental Disomy of Chromosome 1:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
2 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
3 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
4 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
5 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
6 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
7 smooth philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000319
8 neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001319
9 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
10 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
11 type i diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0100651
12 progressive psychomotor deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0007272
13 epiphyseal stippling 58 31 frequent (33%) Frequent (79-30%) HP:0010655
14 autism 58 31 frequent (33%) Frequent (79-30%) HP:0000717
15 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
16 talipes 58 31 frequent (33%) Frequent (79-30%) HP:0001883
17 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
18 progressive spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0002191
19 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
20 abnormal blistering of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0008066
21 single transverse palmar crease 58 31 frequent (33%) Frequent (79-30%) HP:0000954
22 recurrent infections 58 31 frequent (33%) Frequent (79-30%) HP:0002719
23 pancytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001876
24 abnormality of limb bone morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002813
25 uplifted earlobe 58 31 frequent (33%) Frequent (79-30%) HP:0009909
26 delayed closure of the anterior fontanelle 58 31 frequent (33%) Frequent (79-30%) HP:0001476
27 panhypogammaglobulinemia 58 31 frequent (33%) Frequent (79-30%) HP:0003139
28 seizure 31 frequent (33%) HP:0001250
29 seizures 58 Frequent (79-30%)
30 growth delay 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Maternal 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 integument MP:0010771 9.13 LAMA3 LAMB3 LAMC2
4 respiratory system MP:0005388 8.8 LAMA3 LAMB3 LAMC2

Drugs & Therapeutics for Maternal Uniparental Disomy of Chromosome 1

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

Genetic Tests for Maternal Uniparental Disomy of Chromosome 1

Anatomical Context for Maternal Uniparental Disomy of Chromosome 1

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

40
Bone

Publications for Maternal Uniparental Disomy of Chromosome 1

Articles related to Maternal Uniparental Disomy of Chromosome 1:

# Title Authors PMID Year
1
A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease. 61
23684670 2013
2
Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects. 61
9758608 1998
3
Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa. 61
9326326 1997

Variations for Maternal Uniparental Disomy of Chromosome 1

Expression for Maternal Uniparental Disomy of Chromosome 1

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

Pathways for Maternal Uniparental Disomy of Chromosome 1

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 LAMC2 LAMB3 LAMA3
2
Show member pathways
12.88 LAMC2 LAMB3 LAMA3
3
Show member pathways
12.62 LAMC2 LAMB3 LAMA3
4
Show member pathways
12.55 LAMC2 LAMB3 LAMA3
5
Show member pathways
12.47 LAMC2 LAMB3 LAMA3
6
Show member pathways
12.4 LAMC2 LAMB3 LAMA3
7 12.38 LAMC2 LAMB3 LAMA3
8
Show member pathways
12.33 LAMC2 LAMB3 LAMA3
9
Show member pathways
12.26 LAMC2 LAMB3 LAMA3
10
Show member pathways
12.2 LAMC2 LAMB3 LAMA3
11
Show member pathways
12 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 Maternal Uniparental Disomy of Chromosome 1

Cellular components related to Maternal 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 9.13 LAMC2 LAMB3 LAMA3
2 basement membrane GO:0005604 8.8 LAMC2 LAMB3 LAMA3

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.58 LAMC2 LAMB3 LAMA3
2 extracellular matrix organization GO:0030198 9.5 LAMC2 LAMB3 LAMA3
3 cell migration GO:0016477 9.43 LAMB3 LAMA3
4 animal organ morphogenesis GO:0009887 9.43 LAMC2 LAMB3 LAMA3
5 endodermal cell differentiation GO:0035987 9.37 LAMB3 LAMA3
6 epidermis development GO:0008544 9.33 LAMC2 LAMB3 LAMA3
7 tissue development GO:0009888 9.13 LAMC2 LAMB3 LAMA3
8 hemidesmosome assembly GO:0031581 8.8 LAMC2 LAMB3 LAMA3

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.16 LAMC2 LAMA3
2 structural molecule activity GO:0005198 8.96 LAMB3 LAMA3
3 extracellular matrix structural constituent GO:0005201 8.8 LAMC2 LAMB3 LAMA3

Sources for Maternal Uniparental Disomy of Chromosome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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