MCID: MTR061
MIFTS: 17

Maternal Uniparental Disomy of Chromosome 6

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Maternal Uniparental Disomy of Chromosome 6

MalaCards integrated aliases for Maternal Uniparental Disomy of Chromosome 6:

Name: Maternal Uniparental Disomy of Chromosome 6 58
Upd(6)mat 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Maternal Uniparental Disomy of Chromosome 6

MalaCards based summary : Maternal Uniparental Disomy of Chromosome 6, also known as upd(6)mat, is related to uniparental disomy of chromosome 6 and maternal uniparental disomy. Affiliated tissues include bone and testis, and related phenotypes are intellectual disability and inguinal hernia

Related Diseases for Maternal Uniparental Disomy of Chromosome 6

Symptoms & Phenotypes for Maternal Uniparental Disomy of Chromosome 6

Human phenotypes related to Maternal Uniparental Disomy of Chromosome 6:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
3 immunodeficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002721
4 progressive visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000529
5 abnormal electroretinogram 58 31 frequent (33%) Frequent (79-30%) HP:0000512
6 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
7 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
8 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001873
9 slender long bone 58 31 frequent (33%) Frequent (79-30%) HP:0003100
10 cleft upper lip 58 31 frequent (33%) Frequent (79-30%) HP:0000204
11 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
12 eczema 58 31 frequent (33%) Frequent (79-30%) HP:0000964
13 triangular face 58 31 frequent (33%) Frequent (79-30%) HP:0000325
14 rod-cone dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000510
15 spontaneous abortion 58 31 frequent (33%) Frequent (79-30%) HP:0005268
16 hydrocele testis 58 31 frequent (33%) Frequent (79-30%) HP:0000034
17 delayed gross motor development 58 31 occasional (7.5%) Occasional (29-5%) HP:0002194
18 clitoral hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008665
19 increased serum testosterone level 58 31 occasional (7.5%) Occasional (29-5%) HP:0030088
20 congenital adrenal hyperplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008258
21 accelerated bone age after puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0002805

Drugs & Therapeutics for Maternal Uniparental Disomy of Chromosome 6

Search Clinical Trials , NIH Clinical Center for Maternal Uniparental Disomy of Chromosome 6

Genetic Tests for Maternal Uniparental Disomy of Chromosome 6

Anatomical Context for Maternal Uniparental Disomy of Chromosome 6

MalaCards organs/tissues related to Maternal Uniparental Disomy of Chromosome 6:

40
Bone, Testis

Publications for Maternal Uniparental Disomy of Chromosome 6

Articles related to Maternal Uniparental Disomy of Chromosome 6:

# Title Authors PMID Year
1
The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism? 61
29178649 2017
2
Two IUGR foetuses with maternal uniparental disomy of chromosome 6 or UPD(6)mat. 61
27922284 2017
3
Maternal uniparental disomy for chromosome 6 in a patient with IUGR, ambiguous genitalia, and persistent mullerian structures. 61
27500688 2016
4
Intrauterine growth retardation associated with maternal uniparental disomy for chromosome 6 unmasked by congenital adrenal hyperplasia. 61
10541311 1999

Variations for Maternal Uniparental Disomy of Chromosome 6

Expression for Maternal Uniparental Disomy of Chromosome 6

Search GEO for disease gene expression data for Maternal Uniparental Disomy of Chromosome 6.

Pathways for Maternal Uniparental Disomy of Chromosome 6

GO Terms for Maternal Uniparental Disomy of Chromosome 6

Sources for Maternal Uniparental Disomy of Chromosome 6

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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