MCID: MTR062
MIFTS: 19

Maternal Uniparental Disomy of Chromosome 4

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Maternal Uniparental Disomy of Chromosome 4

Summaries for Maternal Uniparental Disomy of Chromosome 4

MalaCards based summary : Maternal Uniparental Disomy of Chromosome 4, also known as upd(4)mat, is related to maternal uniparental disomy and wolfram syndrome 1. An important gene associated with Maternal Uniparental Disomy of Chromosome 4 is SGCB (Sarcoglycan Beta). Related phenotypes are intellectual disability and depressivity

Related Diseases for Maternal Uniparental Disomy of Chromosome 4

Graphical network of the top 20 diseases related to Maternal Uniparental Disomy of Chromosome 4:



Diseases related to Maternal Uniparental Disomy of Chromosome 4

Symptoms & Phenotypes for Maternal Uniparental Disomy of Chromosome 4

Human phenotypes related to Maternal Uniparental Disomy of Chromosome 4:

58 31 (showing 40, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
3 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
4 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
5 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
6 elevated serum creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0003236
7 limb-girdle muscular dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0006785
8 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
9 nyctalopia 58 31 frequent (33%) Frequent (79-30%) HP:0000662
10 decreased body weight 58 31 frequent (33%) Frequent (79-30%) HP:0004325
11 acanthocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0001927
12 fat malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002630
13 low levels of vitamin e 58 31 frequent (33%) Frequent (79-30%) HP:0100513
14 hypocholesterolemia 58 31 frequent (33%) Frequent (79-30%) HP:0003146
15 low levels of vitamin a 58 31 frequent (33%) Frequent (79-30%) HP:0004905
16 rod-cone dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000510
17 impaired vibratory sensation 58 31 frequent (33%) Frequent (79-30%) HP:0002495
18 impaired proprioception 58 31 frequent (33%) Frequent (79-30%) HP:0010831
19 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
20 visual field defect 58 31 frequent (33%) Frequent (79-30%) HP:0001123
21 spastic gait 58 31 frequent (33%) Frequent (79-30%) HP:0002064
22 low levels of vitamin k 58 31 frequent (33%) Frequent (79-30%) HP:0011892
23 malnutrition 58 31 frequent (33%) Frequent (79-30%) HP:0004395
24 calf muscle pseudohypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003707
25 hyporeflexia of lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0002600
26 neck flexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003722
27 abetalipoproteinemia 58 31 frequent (33%) Frequent (79-30%) HP:0008181
28 chaddock reflex 58 31 frequent (33%) Frequent (79-30%) HP:0010875
29 hypofibrinogenemia 58 31 frequent (33%) Frequent (79-30%) HP:0011900
30 pigmentary retinopathy 31 frequent (33%) HP:0000580
31 sensorineural hearing impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000407
32 optic atrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0000648
33 type i diabetes mellitus 58 31 very rare (1%) Very rare (<4-1%) HP:0100651
34 diabetes insipidus 58 31 very rare (1%) Very rare (<4-1%) HP:0000873
35 neurogenic bladder 58 31 very rare (1%) Very rare (<4-1%) HP:0000011
36 ataxia 58 Frequent (79-30%)
37 abnormality of the nervous system 58 Frequent (79-30%)
38 decreased ldl cholesterol concentration 58 Frequent (79-30%)
39 abnormal erythrocyte morphology 58 Frequent (79-30%)
40 pigmentary retinal degeneration 58 Frequent (79-30%)

Drugs & Therapeutics for Maternal Uniparental Disomy of Chromosome 4

Search Clinical Trials , NIH Clinical Center for Maternal Uniparental Disomy of Chromosome 4

Genetic Tests for Maternal Uniparental Disomy of Chromosome 4

Anatomical Context for Maternal Uniparental Disomy of Chromosome 4

Publications for Maternal Uniparental Disomy of Chromosome 4

Articles related to Maternal Uniparental Disomy of Chromosome 4:

(showing 5, show less)
# Title Authors PMID Year
1
Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2. 61
33117653 2020
2
Maternal uniparental disomy of chromosome 4 indicated by allele copy number of short tandem repeats. 61
32199309 2020
3
Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome. 61
26169481 2015
4
Maternal chromosome 4 heterodisomy/isodisomy and Bβ chain Trp323X mutation resulting in severe hypodysfibrinogenaemia. 61
22955321 2012
5
Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology. 61
21480868 2012

Variations for Maternal Uniparental Disomy of Chromosome 4

Expression for Maternal Uniparental Disomy of Chromosome 4

Search GEO for disease gene expression data for Maternal Uniparental Disomy of Chromosome 4.

Pathways for Maternal Uniparental Disomy of Chromosome 4

GO Terms for Maternal Uniparental Disomy of Chromosome 4

Sources for Maternal Uniparental Disomy of Chromosome 4

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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