MCID: RHD001
MIFTS: 23

Rh Deficiency Syndrome

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Rh Deficiency Syndrome

MalaCards integrated aliases for Rh Deficiency Syndrome:

Name: Rh Deficiency Syndrome 12 50 14 69
Rh-Null Syndrome 50

Classifications:



External Ids:

Disease Ontology 12 DOID:0050641

Summaries for Rh Deficiency Syndrome

NIH Rare Diseases : 50 the rh deficiency syndrome, also known as rh-null syndrome, is a blood disorder where people have red blood cells (rbcs) lacking all rh antigens. the rh antigens maintain the integrity of the rbc membrane and therefore, rbcs which lack rh antigens have an abnormal shape. there are two types of rh deficiency syndrome:the regulator type is associated with many different changes (mutations) in the rhag gene .  the amorph type is caused by inactive copies of a gene (silent alleles) at the rh locus. as a result, the rbcs do not express any of the rh antigens. the absence of the rh complex alters the rbc shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. these patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the rh antigens and can only receive blood from people who have the same condition. rh deficiency syndrome is inherited in an autosomal recessive manner. management is individualized according to the severity of hemolytic anemia. last updated: 2/4/2016

MalaCards based summary : Rh Deficiency Syndrome, also known as rh-null syndrome, is related to anemia, hemolytic, rh-null, regulator type and rh-null regulator type related hemolytic anemia. An important gene associated with Rh Deficiency Syndrome is RHAG (Rh-Associated Glycoprotein), and among its related pathways/superpathways is Cell surface interactions at the vascular wall. The drugs Isoniazid and Pyrazinamide have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotype is Decreased shRNA abundance (Z-score < -2).

Wikipedia : 72 Rh deficiency syndrome is a type of hemolytic anemia that involves erythrocytes whom membranes are... more...

Related Diseases for Rh Deficiency Syndrome

Diseases related to Rh Deficiency Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 anemia, hemolytic, rh-null, regulator type 11.0
2 rh-null regulator type related hemolytic anemia 10.8
3 echolalia 9.8 RHCE RHD
4 articulation disorder 9.8 RHCE RHD
5 conjunctival vascular disease 9.7 RHCE RHD
6 overhydrated hereditary stomatocytosis 9.5 RHAG RHCE RHD
7 autonomic peripheral neuropathy 9.5 RHCE RHD
8 vagus nerve neoplasm 9.2 CD47 GYPB RHD
9 arterial calcification of infancy 7.6 CD47 GYPB RHAG RHCE RHCG RHD

Graphical network of the top 20 diseases related to Rh Deficiency Syndrome:



Diseases related to Rh Deficiency Syndrome

Symptoms & Phenotypes for Rh Deficiency Syndrome

GenomeRNAi Phenotypes related to Rh Deficiency Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.4 RHCE RHD
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.4 RHAG
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.4 RHAG RHCE RHD
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.4 RHD
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.4 RHD
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.4 RHCE
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.4 RHAG
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.4 RHAG
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.4 RHAG

Drugs & Therapeutics for Rh Deficiency Syndrome

Drugs for Rh Deficiency Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Isoniazid Approved Phase 4,Phase 3 54-85-3 3767
2
Pyrazinamide Approved Phase 4,Phase 3 98-96-4 1046
3
Rifampin Approved Phase 4,Phase 3 13292-46-1 5458213 5381226
4 Anti-Bacterial Agents Phase 4,Phase 3
5 Antibiotics, Antitubercular Phase 4,Phase 3
6 Anti-Infective Agents Phase 4,Phase 3
7 Antimetabolites Phase 4,Phase 3
8 Antitubercular Agents Phase 4,Phase 3
9 Cytochrome P-450 CYP3A Inducers Phase 4,Phase 3
10 Hypolipidemic Agents Phase 4,Phase 3
11 Lipid Regulating Agents Phase 4,Phase 3
12 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3
13
Ethambutol Approved Phase 3 74-55-5 3279 14052
14 Anesthetics

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 A Randomized Trial of Three Regimens to Prevent Tuberculosis in HIV-Infected Patients With Anergy Completed NCT00402610 Phase 4 isoniazid, rifampin + isoniazid, rifampin + pyrazinamide or not treatment
2 Short Course Intermittent Regimens for the Treatment of HIV-Associated Tuberculosis Unknown status NCT00376012 Phase 3 Anti-TB drugs (Ethambutol, Isoniazid, Rifampicin and Pyrazinamide);Anti-TB drugs (Ethambutol, Isoniazid, Rifampicin and Pyrazinamide)
3 Evaluation of Dry Eye by Tear Film Imager in a Low Humidity Environmental Exposure Chamber (TFI-LH16) Completed NCT03061578
4 Non-invasive Ocular Surface Measurements Before and After Interventions Terminated NCT01228929

Search NIH Clinical Center for Rh Deficiency Syndrome

Genetic Tests for Rh Deficiency Syndrome

Anatomical Context for Rh Deficiency Syndrome

MalaCards organs/tissues related to Rh Deficiency Syndrome:

39
Eye

Publications for Rh Deficiency Syndrome

Articles related to Rh Deficiency Syndrome:

id Title Authors Year
1
Rh-deficiency syndrome. ( 11784606 )
2001
2
Structure and expression of the RH locus in the Rh-deficiency syndrome. ( 8329719 )
1993
3
Hematological aspect of Rh deficiency syndrome: a case report and a review of the literature. ( 3103426 )
1987

Variations for Rh Deficiency Syndrome

Expression for Rh Deficiency Syndrome

Search GEO for disease gene expression data for Rh Deficiency Syndrome.

Pathways for Rh Deficiency Syndrome

Pathways related to Rh Deficiency Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.88 CD47 GYPB

GO Terms for Rh Deficiency Syndrome

Cellular components related to Rh Deficiency Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.63 CD47 GYPB RHAG RHCE RHCG RHD
2 integral component of membrane GO:0016021 9.43 CD47 GYPB RHAG RHCE RHCG RHD
3 integral component of plasma membrane GO:0005887 9.1 CD47 GYPB RHAG RHCE RHCG RHD

Biological processes related to Rh Deficiency Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 organic cation transport GO:0015695 9.46 RHAG RHCE RHCG RHD
2 leukocyte migration GO:0050900 9.32 CD47 GYPB
3 cellular ion homeostasis GO:0006873 9.26 RHAG RHCG
4 ammonium transmembrane transport GO:0072488 9.26 RHAG RHCE RHCG RHD
5 ammonium transport GO:0015696 8.92 RHAG RHCE RHCG RHD

Molecular functions related to Rh Deficiency Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ankyrin binding GO:0030506 8.96 RHAG RHCG
2 ammonium transmembrane transporter activity GO:0008519 8.92 RHAG RHCE RHCG RHD

Sources for Rh Deficiency Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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