MCID: MTR051
MIFTS: 33

Maternal Uniparental Disomy of Chromosome 1

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Maternal Uniparental Disomy of Chromosome 1

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 epidermolysis bullosa and junctional epidermolysis bullosa. An important gene associated with Maternal Uniparental Disomy of Chromosome 1 is LAMA3 (Laminin Subunit Alpha 3), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. Affiliated tissues include skin and bone, and related phenotypes are nystagmus and seizures

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:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
3 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
4 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
5 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
6 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
7 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
8 smooth philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000319
9 neonatal hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001319
10 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
11 gastroesophageal reflux 59 32 frequent (33%) Frequent (79-30%) HP:0002020
12 type i diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0100651
13 pancytopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001876
14 abnormal blistering of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0008066
15 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
16 progressive psychomotor deterioration 59 32 frequent (33%) Frequent (79-30%) HP:0007272
17 autism 59 32 frequent (33%) Frequent (79-30%) HP:0000717
18 epiphyseal stippling 59 32 frequent (33%) Frequent (79-30%) HP:0010655
19 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
20 downturned corners of mouth 59 32 frequent (33%) Frequent (79-30%) HP:0002714
21 recurrent infections 59 32 frequent (33%) Frequent (79-30%) HP:0002719
22 progressive spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0002191
23 talipes 59 32 frequent (33%) Frequent (79-30%) HP:0001883
24 single transverse palmar crease 59 32 frequent (33%) Frequent (79-30%) HP:0000954
25 abnormality of limb bone morphology 59 32 frequent (33%) Frequent (79-30%) HP:0002813
26 uplifted earlobe 59 32 frequent (33%) Frequent (79-30%) HP:0009909
27 delayed closure of the anterior fontanelle 59 32 frequent (33%) Frequent (79-30%) HP:0001476
28 panhypogammaglobulinemia 59 32 frequent (33%) Frequent (79-30%) HP:0003139
29 growth delay 59 Frequent (79-30%)

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

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.62 LAMA3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.62 LAMA3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.62 LAMB3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.62 LAMB3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.62 LAMB3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.62 LAMB3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.62 LAMA3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.62 LAMB3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.62 LAMA3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.62 LAMB3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.62 LAMA3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.62 LAMA3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.62 LAMB3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.62 LAMA3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.62 LAMA3
16 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.62 LAMB3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.62 LAMA3 LAMB3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.62 LAMB3
19 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.62 LAMB3

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:

41
Skin, Bone

Publications for Maternal Uniparental Disomy of Chromosome 1

Articles related to Maternal Uniparental Disomy of Chromosome 1:

# Title Authors Year
1
Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa. ( 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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.89 LAMA3 LAMB3 LAMC2
2
Show member pathways
12.64 LAMA3 LAMB3 LAMC2
3
Show member pathways
12.57 LAMA3 LAMB3 LAMC2
4
Show member pathways
12.49 LAMA3 LAMB3 LAMC2
5
Show member pathways
12.41 LAMA3 LAMB3 LAMC2
6 12.39 LAMA3 LAMB3 LAMC2
7
Show member pathways
12.35 LAMA3 LAMB3 LAMC2
8
Show member pathways
12.29 LAMA3 LAMB3 LAMC2
9
Show member pathways
12.23 LAMA3 LAMB3 LAMC2
10
Show member pathways
11.93 LAMA3 LAMB3 LAMC2
11
Show member pathways
11.82 LAMA3 LAMB3 LAMC2
12
Show member pathways
11.82 LAMA3 LAMB3 LAMC2
13
Show member pathways
11.67 LAMA3 LAMB3 LAMC2
14 11.42 LAMA3 LAMB3 LAMC2
15 11.3 LAMA3 LAMB3 LAMC2
16
Show member pathways
10.96 LAMA3 LAMB3 LAMC2
17 10.6 LAMA3 LAMB3 LAMC2
18 10.58 LAMA3 LAMB3 LAMC2

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 extracellular region GO:0005576 9.43 LAMA3 LAMB3 LAMC2
2 collagen-containing extracellular matrix GO:0062023 9.16 LAMA3 LAMC2
3 basement membrane GO:0005604 9.13 LAMA3 LAMB3 LAMC2
4 laminin-5 complex GO:0005610 8.62 LAMA3 LAMB3

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 9.5 LAMA3 LAMB3 LAMC2
2 extracellular matrix organization GO:0030198 9.33 LAMA3 LAMB3 LAMC2
3 endodermal cell differentiation GO:0035987 9.26 LAMA3 LAMB3
4 epidermis development GO:0008544 9.13 LAMA3 LAMB3 LAMC2
5 hemidesmosome assembly GO:0031581 8.8 LAMA3 LAMB3 LAMC2

Molecular functions related to Maternal 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 LAMA3 LAMB3
2 extracellular matrix structural constituent GO:0005201 8.62 LAMA3 LAMC2

Sources for Maternal Uniparental Disomy of Chromosome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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