MCID: MTR057
MIFTS: 12

Maternal Uniparental Disomy of Chromosome X

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Maternal Uniparental Disomy of Chromosome X

Summaries for Maternal Uniparental Disomy of Chromosome X

MalaCards based summary : Maternal Uniparental Disomy of Chromosome X, is also known as upd mat. Affiliated tissues include heart, and related phenotypes are intellectual disability and agenesis of corpus callosum

Related Diseases for Maternal Uniparental Disomy of Chromosome X

Symptoms & Phenotypes for Maternal Uniparental Disomy of Chromosome X

Human phenotypes related to Maternal Uniparental Disomy of Chromosome X:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 agenesis of corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0001274
3 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
4 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
5 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
6 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
7 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
8 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
9 congestive heart failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0001635
10 cubitus valgus 58 31 hallmark (90%) Very frequent (99-80%) HP:0002967
11 shield chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000914
12 low posterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0002162
13 inverted nipples 58 31 hallmark (90%) Very frequent (99-80%) HP:0003186
14 hepatic failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0001399
15 thin vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0000233
16 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
17 hypopigmentation of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001010
18 rocker bottom foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001838
19 abnormality of chromosome segregation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002916
20 primary gonadal insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0008193
21 predominantly lower limb lymphedema 58 31 hallmark (90%) Very frequent (99-80%) HP:0003550
22 seizure 31 hallmark (90%) HP:0001250
23 azoospermia 58 31 frequent (33%) Frequent (79-30%) HP:0000027
24 gonadal tissue inappropriate for external genitalia or chromosomal sex 58 31 frequent (33%) Frequent (79-30%) HP:0003248
25 seizures 58 Very frequent (99-80%)
26 flexion contracture 58 Very frequent (99-80%)
27 ambiguous genitalia 58 Frequent (79-30%)

Drugs & Therapeutics for Maternal Uniparental Disomy of Chromosome X

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

Genetic Tests for Maternal Uniparental Disomy of Chromosome X

Anatomical Context for Maternal Uniparental Disomy of Chromosome X

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

40
Heart

Publications for Maternal Uniparental Disomy of Chromosome X

Variations for Maternal Uniparental Disomy of Chromosome X

Expression for Maternal Uniparental Disomy of Chromosome X

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

Pathways for Maternal Uniparental Disomy of Chromosome X

GO Terms for Maternal Uniparental Disomy of Chromosome X

Sources for Maternal Uniparental Disomy of Chromosome X

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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