MCID: MTR062
MIFTS: 15

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, is also known as upd(4)mat. An important gene associated with Maternal Uniparental Disomy of Chromosome 4 is WFS1 (Wolframin ER Transmembrane Glycoprotein). Related phenotypes are depressivity and intellectual disability

Related Diseases for 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:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
2 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
3 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
4 sensorineural hearing impairment 59 32 very rare (1%) Very rare (<4-1%) HP:0000407
5 optic atrophy 59 32 very rare (1%) Very rare (<4-1%) HP:0000648
6 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
7 type i diabetes mellitus 59 32 very rare (1%) Very rare (<4-1%) HP:0100651
8 elevated serum creatine phosphokinase 59 32 frequent (33%) Frequent (79-30%) HP:0003236
9 postnatal growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0008897
10 impaired proprioception 59 32 frequent (33%) Frequent (79-30%) HP:0010831
11 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
12 nyctalopia 59 32 frequent (33%) Frequent (79-30%) HP:0000662
13 visual field defect 59 32 frequent (33%) Frequent (79-30%) HP:0001123
14 diabetes insipidus 59 32 very rare (1%) Very rare (<4-1%) HP:0000873
15 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014
16 decreased body weight 59 32 frequent (33%) Frequent (79-30%) HP:0004325
17 spastic gait 59 32 frequent (33%) Frequent (79-30%) HP:0002064
18 rod-cone dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000510
19 neurogenic bladder 59 32 very rare (1%) Very rare (<4-1%) HP:0000011
20 impaired vibratory sensation 59 32 frequent (33%) Frequent (79-30%) HP:0002495
21 vitamin a deficiency 59 32 frequent (33%) Frequent (79-30%) HP:0004905
22 vitamin k deficiency 59 32 frequent (33%) Frequent (79-30%) HP:0011892
23 vitamin e deficiency 59 32 frequent (33%) Frequent (79-30%) HP:0100513
24 hypocholesterolemia 59 32 frequent (33%) Frequent (79-30%) HP:0003146
25 fat malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002630
26 acanthocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0001927
27 neck flexor weakness 32 59 frequent (33%) Frequent (79-30%) HP:0003722
28 malnutrition 59 32 frequent (33%) Frequent (79-30%) HP:0004395
29 calf muscle pseudohypertrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003707
30 hyporeflexia of lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0002600
31 limb-girdle muscular dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0006785
32 abetalipoproteinemia 59 32 frequent (33%) Frequent (79-30%) HP:0008181
33 chaddock reflex 59 32 frequent (33%) Frequent (79-30%) HP:0010875
34 hypofibrinogenemia 59 32 frequent (33%) Frequent (79-30%) HP:0011900
35 ataxia 59 Frequent (79-30%)
36 abnormality of the nervous system 59 Frequent (79-30%)
37 pigmentary retinopathy 32 frequent (33%) HP:0000580
38 abnormality of erythrocytes 59 Frequent (79-30%)
39 pigmentary retinal degeneration 59 Frequent (79-30%)
40 hypobetalipoproteinemia 59 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

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 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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