MCID: PTR011
MIFTS: 16

Paternal Uniparental Disomy of Chromosome 1

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Paternal Uniparental Disomy of Chromosome 1

MalaCards integrated aliases for Paternal Uniparental Disomy of Chromosome 1:

Name: Paternal Uniparental Disomy of Chromosome 1 58
Upd(1)pat 58

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Paternal Uniparental Disomy of Chromosome 1

MalaCards based summary : Paternal Uniparental Disomy of Chromosome 1, is also known as upd(1)pat. Affiliated tissues include brain, kidney and skin, and related phenotypes are neonatal hypotonia and short stature

Related Diseases for Paternal Uniparental Disomy of Chromosome 1

Symptoms & Phenotypes for Paternal Uniparental Disomy of Chromosome 1

Human phenotypes related to Paternal Uniparental Disomy of Chromosome 1:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001319
2 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
3 proteinuria 58 31 frequent (33%) Frequent (79-30%) HP:0000093
4 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
5 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
6 abnormal blistering of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0008066
7 progressive visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000529
8 myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0001336
9 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
10 progressive psychomotor deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0007272
11 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
12 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
13 abnormality of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0000682
14 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
15 hypercalcemia 58 31 frequent (33%) Frequent (79-30%) HP:0003072
16 craniosynostosis 58 31 frequent (33%) Frequent (79-30%) HP:0001363
17 enlarged kidney 58 31 frequent (33%) Frequent (79-30%) HP:0000105
18 anhidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000970
19 pain insensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0007021
20 brain atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012444
21 polyphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002591
22 macular dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0007754
23 episodic hemolytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0004802
24 membranoproliferative glomerulonephritis 58 31 frequent (33%) Frequent (79-30%) HP:0000793
25 increased blood urea nitrogen 58 31 frequent (33%) Frequent (79-30%) HP:0003138
26 dyschromatopsia 58 31 frequent (33%) Frequent (79-30%) HP:0007641
27 macroscopic hematuria 58 31 frequent (33%) Frequent (79-30%) HP:0012587
28 abnormal retinal morphology on macular oct 58 31 frequent (33%) Frequent (79-30%) HP:0030612
29 seizure 31 frequent (33%) HP:0001250
30 seizures 58 Frequent (79-30%)

Drugs & Therapeutics for Paternal Uniparental Disomy of Chromosome 1

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

Genetic Tests for Paternal Uniparental Disomy of Chromosome 1

Anatomical Context for Paternal Uniparental Disomy of Chromosome 1

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

40
Brain, Kidney, Skin

Publications for Paternal Uniparental Disomy of Chromosome 1

Articles related to Paternal Uniparental Disomy of Chromosome 1:

# Title Authors PMID Year
1
Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorder. 61
30560016 2018
2
Unusual clinical severity of complement membrane cofactor protein-associated hemolytic-uremic syndrome and uniparental isodisomy. 61
17261436 2007
3
Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. 61
9529353 1998

Variations for Paternal Uniparental Disomy of Chromosome 1

Expression for Paternal Uniparental Disomy of Chromosome 1

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

Pathways for Paternal Uniparental Disomy of Chromosome 1

GO Terms for Paternal Uniparental Disomy of Chromosome 1

Sources for Paternal 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 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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