Rh Deficiency Syndrome

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Rh Deficiency Syndrome

MalaCards integrated aliases for Rh Deficiency Syndrome:

Name: Rh Deficiency Syndrome 12 20 58 15
Rh-Null Syndrome 20 58
Rh Disease 74


Orphanet epidemiological data:

rh deficiency syndrome
Inheritance: Autosomal recessive;


Orphanet: 58  
Rare haematological diseases

External Ids:

Disease Ontology 12 DOID:0050641
ICD10 via Orphanet 33 D58.8
UMLS via Orphanet 72 C0272052 C1849387
Orphanet 58 ORPHA71275

Summaries for Rh Deficiency Syndrome

GARD : 20 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.

MalaCards based summary : Rh Deficiency Syndrome, also known as rh-null syndrome, is related to rh isoimmunization and hemolytic anemia. An important gene associated with Rh Deficiency Syndrome is RHAG (Rh Associated Glycoprotein), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Cell surface interactions at the vascular wall. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A hemolytic anemia that is characterized by deficiency of Rh antigens, has material basis in homozygous or compound heterozygous mutation in the RHAG gene on chromosome 6p12.

Wikipedia : 74 Rh disease (also known as rhesus isoimmunization, Rh (D) disease) is a type of hemolytic disease of the... more...

Related Diseases for Rh Deficiency Syndrome

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

(show all 32)
# Related Disease Score Top Affiliating Genes
1 rh isoimmunization 30.1 RHD RHCE
2 hemolytic anemia 29.4 STOM RHD RHCE RHAG KCNN4 CD47
3 rh-null, regulator type 11.3
4 retinohepatoendocrinologic syndrome 11.1
5 hemoglobin c disease 10.2 RHCE GYPB
6 neonatal anemia 10.2 RHD RHCE
7 kernicterus 10.2 RHD RHCE
8 blood group incompatibility 10.2 RHD RHCE RHBG
9 primary thrombocytopenia 10.2 RHD RHCE
10 patau syndrome 10.1 RHD RHCE
11 overhydrated hereditary stomatocytosis 10.1 STOM RHCG RHAG
12 carrion's disease 10.0 GYPB GYPA
13 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 3 10.0 RHAG GYPA
14 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 10.0 RHAG GYPA
15 hereditary stomatocytosis 10.0 STOM RHAG KCNN4
16 fetal erythroblastosis 10.0 RHD RHCE GYPA
17 autosomal recessive disease 10.0
18 macrocytic anemia 10.0
19 anemia, congenital dyserythropoietic, type ib 10.0 KCNN4 AQP1
20 glutamate-cysteine ligase deficiency 9.9 RHD RHCE RHAG KCNN4
21 inclusion body myopathy with paget disease of bone and frontotemporal dementia 9.9 RHAG GYPB GYPA
22 rh-null, amorph type 9.9
23 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 1 9.9 RHAG GYPA
24 bartter disease 9.8 SLC26A4 SLC12A6 SLC12A3
25 bilirubin metabolic disorder 9.8
26 anemia, autoimmune hemolytic 9.7 RHCE GYPA
27 otopalatodigital syndrome spectrum disorder 9.7 RHD RHCE RHAG GYPB GYPA
28 melnick-needles syndrome 9.7 RHD RHCE RHAG GYPB GYPA
29 intracranial hypertension, idiopathic 9.6 SLC12A3 CA2 AQP1
30 renal tubular transport disease 9.6 SLC26A4 SLC12A3 CA2
31 hereditary elliptocytosis 9.4 STOM RHD RHCE RHAG GYPB GYPA
32 hereditary spherocytosis 9.2 STOM RHD RHAG GYPB GYPA CD47

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:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.6 CA2 CD47 KCNN4 PHPT1 SLC12A3
2 Decreased viability GR00381-A-1 9.6 AQP1 RHBG RHCE
3 Decreased viability GR00381-A-3 9.6 RHCE
4 Decreased viability GR00386-A-1 9.6 GYPA RHCE RHD
5 Decreased viability GR00402-S-2 9.6 AQP1 CD47 MTMR6 PHPT1 RHBG SLC12A3

MGI Mouse Phenotypes related to Rh Deficiency Syndrome:

# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 AQP1 CA2 CD47 KCNN4 PHPT1 RHAG
2 renal/urinary system MP:0005367 9.17 AQP1 CA2 KCNN4 RHBG RHCG SLC12A3

Drugs & Therapeutics for Rh Deficiency Syndrome

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

# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 2
2 Antibodies Phase 2
Epicatechin Investigational 490-46-0 72276
4 Tea

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 Pharmacokinetics and Safety of Roledumab, a Fully Human Recombinant Monoclonal Anti-RhD Antibody, in RhD-negative Pregnant Woman Carrying an RhD-positive Foetus: a Phase IIb, Multicenter, Open-label Study Completed NCT02287896 Phase 2 ROLEDUMAB
2 Circulating microRNAs Expression as Predictors of Clinical Response in Rheumatoid Arthritis Patients Treated With Green Tea Completed NCT03719469
3 Early Identification of Rh Negative Women During Pregnancy and Use of Prophylaxis to Prevent Rh Disease of Newborns in Dadu District, Sindh, Pakistan Completed NCT03297671 RhIg prophylaxis
4 Using Community Health Workers and In-home LED Phototherapy to Dramatically Reduce Brain Damage From Neonatal Jaundice in Low to Middle Income Countries: A Feasibility Trial Recruiting NCT03933423

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:


Publications for Rh Deficiency Syndrome

Articles related to Rh Deficiency Syndrome:

(show all 16)
# Title Authors PMID Year
Rh deficiency syndrome with anti Rh-29 in a multiparous lady causing transfusion reactions. 61
32484254 2020
Extensive clinical, serologic and molecular studies lead to the first reported Rhmod phenotype in Argentina. 61
32378229 2020
In vitro generated Rh(null) red cells recapitulate the in vivo deficiency: a model for rare blood group phenotypes and erythroid membrane disorders. 61
23417980 2013
Rh-deficiency syndrome. 61
11784606 2001
The human Rhesus-associated RhAG protein and a kidney homologue promote ammonium transport in yeast. 61
11062476 2000
Molecular biology and genetics of the Rh blood group system. 61
10791884 2000
Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene. 61
10467273 1999
Rh-deficiency of the regulator type caused by splicing mutations in the human RH50 gene. 61
9746795 1998
The human Rh50 glycoprotein gene. Structural organization and associated splicing defect resulting in Rh(null) disease. 61
9442063 1998
Molecular insights into the Rh protein family and associated antigens. 61
9107525 1997
Candidate gene acting as a suppressor of the RH locus in most cases of Rh-deficiency. 61
8563755 1996
Structure and expression of the RH locus in the Rh-deficiency syndrome. 61
8329719 1993
Localization of the C termini of the Rh (rhesus) polypeptides to the cytoplasmic face of the human erythrocyte membrane. 61
1634548 1992
Hematological aspect of Rh deficiency syndrome: a case report and a review of the literature. 61
3103426 1987
Red cell membrane and cation deficiency in Rh null syndrome. 61
6324926 1984
[Rh null syndrome]. 61
825162 1976

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:

# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
11.68 GYPB GYPA CD47
Show member pathways
10.68 RHAG CA2 AQP1
4 10.52 CA2 AQP1

GO Terms for Rh Deficiency Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.16 STOM SLC26A4 SLC12A6 SLC12A3 RHD RHCG
2 integral component of membrane GO:0016021 10 STOM SLC26A4 SLC12A6 SLC12A3 RHD RHCG
3 extracellular exosome GO:0070062 9.97 STOM SLC26A4 SLC12A3 RHCG PHPT1 CD47
4 plasma membrane GO:0005886 9.86 STOM SLC26A4 SLC12A6 SLC12A3 RHD RHCG
5 basolateral plasma membrane GO:0016323 9.72 SLC12A6 RHCG RHBG CA2 AQP1
6 apical plasma membrane GO:0016324 9.71 SLC26A4 SLC12A3 RHCG AQP1
7 integral component of plasma membrane GO:0005887 9.44 STOM SLC26A4 SLC12A6 SLC12A3 RHD RHCG

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 leukocyte migration GO:0050900 9.72 GYPB GYPA CD47
2 potassium ion transport GO:0006813 9.71 SLC12A6 KCNN4 AQP1
3 potassium ion transmembrane transport GO:0071805 9.7 SLC12A6 KCNN4 AQP1
4 chloride transmembrane transport GO:1902476 9.65 SLC26A4 SLC12A6 SLC12A3
5 bicarbonate transport GO:0015701 9.62 SLC26A4 RHAG CA2 AQP1
6 regulation of pH GO:0006885 9.51 SLC26A4 RHCG
7 potassium ion homeostasis GO:0055075 9.49 SLC12A6 SLC12A3
8 chloride ion homeostasis GO:0055064 9.46 SLC12A6 SLC12A3
9 cell volume homeostasis GO:0006884 9.46 SLC12A6 SLC12A3 KCNN4 AQP1
10 cellular ion homeostasis GO:0006873 9.43 RHCG RHAG
11 carbon dioxide transport GO:0015670 9.43 RHAG CA2 AQP1
12 ammonium transmembrane transport GO:0072488 9.43 RHD RHCG RHCE RHBG RHAG AQP1
13 transepithelial ammonium transport GO:0070634 9.4 RHCG RHBG
14 carbon dioxide transmembrane transport GO:0035378 9.37 RHAG AQP1
15 ammonium transport GO:0015696 9.1 RHD RHCG RHCE RHBG RHAG AQP1

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

# Name GO ID Score Top Affiliating Genes
1 potassium:chloride symporter activity GO:0015379 9.37 SLC12A6 SLC12A3
2 cation:chloride symporter activity GO:0015377 9.32 SLC12A6 SLC12A3
3 potassium ion transmembrane transporter activity GO:0015079 9.26 SLC12A6 AQP1
4 ammonium transmembrane transporter activity GO:0008519 9.17 SLC12A6 RHD RHCG RHCE RHBG RHAG
5 carbon dioxide transmembrane transporter activity GO:0035379 9.16 RHAG AQP1
6 ankyrin binding GO:0030506 9.13 RHCG RHBG RHAG

Sources for Rh Deficiency Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
70 Tocris
72 UMLS via Orphanet
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