MCID: 46X002
MIFTS: 16

46 Xx Gonadal Dysgenesis

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

Aliases & Classifications for 46 Xx Gonadal Dysgenesis

MalaCards integrated aliases for 46 Xx Gonadal Dysgenesis:

Name: 46 Xx Gonadal Dysgenesis 12
Gonadal Dysgenesis, 46,xx 44

Classifications:



External Ids:

Disease Ontology 12 DOID:14450
MeSH 44 D023961
NCIt 50 C120197
UMLS 73 C0949595

Summaries for 46 Xx Gonadal Dysgenesis

Disease Ontology : 12 A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female.

MalaCards based summary : 46 Xx Gonadal Dysgenesis, also known as gonadal dysgenesis, 46,xx, is related to 46,xx sex reversal 1 and ovarian dysgenesis 1. An important gene associated with 46 Xx Gonadal Dysgenesis is NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1). The drugs Acetylcysteine and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include ovary.

Related Diseases for 46 Xx Gonadal Dysgenesis

Diseases in the Gonadal Dysgenesis family:

46 Xy Gonadal Dysgenesis 46 Xx Gonadal Dysgenesis

Diseases related to 46 Xx Gonadal Dysgenesis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 46,xx sex reversal 1 11.5
2 ovarian dysgenesis 1 11.2
3 gonadal dysgenesis 10.2

Symptoms & Phenotypes for 46 Xx Gonadal Dysgenesis

Drugs & Therapeutics for 46 Xx Gonadal Dysgenesis

Drugs for 46 Xx Gonadal Dysgenesis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
2
alemtuzumab Approved, Investigational Phase 2 216503-57-0
3
Busulfan Approved, Investigational Phase 2 55-98-1 2478
4
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
5
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
6
rituximab Approved Phase 2 174722-31-7 10201696
7
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
8
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
9
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
10 Alkylating Agents Phase 2
11 Antilymphocyte Serum Phase 2
12 Antimetabolites Phase 2
13 Antimetabolites, Antineoplastic Phase 2
14 Antineoplastic Agents, Alkylating Phase 2
15 Immunosuppressive Agents Phase 2
16 N-monoacetylcystine Phase 2
17 Thioctic Acid Phase 2
18 Tocopherols Phase 2
19 Tocotrienols Phase 2
20 Vitamins Phase 2
21 Alpha-lipoic Acid Nutraceutical Phase 2
22 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)

Search NIH Clinical Center for 46 Xx Gonadal Dysgenesis

Cochrane evidence based reviews: gonadal dysgenesis, 46,xx

Genetic Tests for 46 Xx Gonadal Dysgenesis

Anatomical Context for 46 Xx Gonadal Dysgenesis

MalaCards organs/tissues related to 46 Xx Gonadal Dysgenesis:

41
Ovary

Publications for 46 Xx Gonadal Dysgenesis

Variations for 46 Xx Gonadal Dysgenesis

Expression for 46 Xx Gonadal Dysgenesis

Search GEO for disease gene expression data for 46 Xx Gonadal Dysgenesis.

Pathways for 46 Xx Gonadal Dysgenesis

GO Terms for 46 Xx Gonadal Dysgenesis

Sources for 46 Xx Gonadal Dysgenesis

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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