MCID: TTR018
MIFTS: 21

Tetragametic Chimerism

Categories: Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Tetragametic Chimerism

MalaCards integrated aliases for Tetragametic Chimerism:

Name: Tetragametic Chimerism 58
46,xx/46,xy Chimerism 58

Characteristics:

Orphanet epidemiological data:

58
tetragametic chimerism
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q99.0
Orphanet 58 ORPHA199310

Summaries for Tetragametic Chimerism

MalaCards based summary : Tetragametic Chimerism, also known as 46,xx/46,xy chimerism, is related to hermaphroditism and dowling-degos disease 1. Affiliated tissues include bone marrow, bone and skin, and related phenotypes are hypopigmented skin patches and cryptorchidism

Wikipedia : 74 A genetic chimerism or chimera (/kaɪˈmɪərə/ ky-MEER-ə or /kɪˈmɪərə/ kə-MEER-ə, also chimaera (chimæra))... more...

Related Diseases for Tetragametic Chimerism

Diseases related to Tetragametic Chimerism via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 hermaphroditism 10.3
2 dowling-degos disease 1 10.2
3 scleroderma, familial progressive 10.2
4 schopf-schulz-passarge syndrome 10.2
5 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
6 infant gynecomastia 10.2
7 gynecomastia 10.2
8 pik3ca-related overgrowth syndrome 10.2
9 hyperpigmentation of the skin 10.2
10 oligospermia 10.1
11 infertility 10.1

Graphical network of the top 20 diseases related to Tetragametic Chimerism:



Diseases related to Tetragametic Chimerism

Symptoms & Phenotypes for Tetragametic Chimerism

Human phenotypes related to Tetragametic Chimerism:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypopigmented skin patches 58 31 hallmark (90%) Very frequent (99-80%) HP:0001053
2 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
3 abnormality of the ovary 58 31 hallmark (90%) Very frequent (99-80%) HP:0000137
4 micropenis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000054
5 bifid scrotum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000048
6 true hermaphroditism 58 31 hallmark (90%) Very frequent (99-80%) HP:0010459
7 perineal hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000051
8 gonadal dysgenesis with female appearance, male 58 31 hallmark (90%) Very frequent (99-80%) HP:0008723
9 ovotestis 58 31 hallmark (90%) Very frequent (99-80%) HP:0012861
10 blood group antigen abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0010970
11 abnormal cellular immune system morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0010987
12 abnormality of multiple cell lineages in the bone marrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0012145
13 clitoral hypertrophy 31 hallmark (90%) HP:0008665
14 single transverse palmar crease 58 31 frequent (33%) Frequent (79-30%) HP:0000954
15 global developmental delay 58 Excluded (0%)
16 abnormal testis morphology 58 Very frequent (99-80%)
17 ambiguous genitalia 58 Very frequent (99-80%)
18 clitoromegaly 58 Very frequent (99-80%)
19 abnormality of the scrotum 58 Very frequent (99-80%)

Drugs & Therapeutics for Tetragametic Chimerism

Search Clinical Trials , NIH Clinical Center for Tetragametic Chimerism

Genetic Tests for Tetragametic Chimerism

Anatomical Context for Tetragametic Chimerism

MalaCards organs/tissues related to Tetragametic Chimerism:

40
Bone Marrow, Bone, Skin, Ovary, Testis

Publications for Tetragametic Chimerism

Articles related to Tetragametic Chimerism:

(show all 22)
# Title Authors PMID Year
1
Cytogenetic Spectrum of Ovotesticular Difference of Sex Development (OT DSD) among a Large Cohort of DSD Patients and Literature Review. 61
32535607 2020
2
Rare case of an oligospermic male with 46,XX/46,XY tetragametic chimerism. 61
30995699 2019
3
Identification of tetragametic human chimerism by routine DNA profiling. 61
30251168 2019
4
Tri-allelic expression of HLA gene in 46,XX/46,XY chimerism. 61
30579837 2019
5
Clinical and Genetic Analysis of an Infertile Male with 46,XX/46,XY Chimerism. 61
30536450 2019
6
Case of successful IVF treatment of an oligospermic male with 46,XX/46,XY chimerism. 61
29713857 2018
7
A case of chimerism-induced paternity confusion: what ART practitioners can do to prevent future calamity for families. 61
29063500 2018
8
Testicular feminization: complete androgen insensitivity syndrome. Discussions based on a case report. 61
24715185 2014
9
[Blood cell chimerism in dizygotic twins conceived by in vitro fertilization]. 61
23726690 2013
10
Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development. 61
22573722 2012
11
[Tetragametic chimerism: Case report]. 61
20692777 2011
12
Trizygotic dichorionic triplets with 46,XX/46,XY chimerism in both fetuses of the monochorionic pair. 61
19777529 2009
13
An unusual observation of tetragametic chimerism: forensic aspects. 61
19255770 2009
14
Ovotesticular disorder of sexual development (true hermaphroditism). 61
18822450 2009
15
Chimerism and tetragametic chimerism in humans: implications in autoimmunity, allorecognition and tolerance. 61
17917028 2007
16
Tetragametic chimerism detected in a healthy woman with mixed-field agglutination reactions in ABO blood grouping. 61
15847657 2005
17
[The mechanism of tetragametic chimerism in a true hermaphroditism with 46, XX/46 ,XY]. 61
15027182 2004
18
Disputed maternity leading to identification of tetragametic chimerism. 61
12015394 2002
19
Molecular biologic analyses of tetragametic chimerism in a true hermaphrodite with 46,XX/46,XY. 61
7805911 1995
20
XX/XY chimerism encountered during prenatal diagnosis. 61
3211844 1988
21
[A patient with 46 XX/46 XY chimerism without hermaphroditism. The problem of prepuberal diagnosis of the Klinefelter's syndrome]. 61
6623025 1983
22
46,XX/46,XY chimerism in a phenotypically normal man. 61
6575956 1983

Variations for Tetragametic Chimerism

Expression for Tetragametic Chimerism

Search GEO for disease gene expression data for Tetragametic Chimerism.

Pathways for Tetragametic Chimerism

GO Terms for Tetragametic Chimerism

Sources for Tetragametic Chimerism

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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