RHNR
MCID: RHN013
MIFTS: 23

Rh-Null, Regulator Type (RHNR)

Categories: Genetic diseases

Aliases & Classifications for Rh-Null, Regulator Type

MalaCards integrated aliases for Rh-Null, Regulator Type:

Name: Rh-Null, Regulator Type 57 29 6 39
Anemia, Hemolytic, Rh-Null, Regulator Type 57 13
Rh-Null Hemolytic Anemia, Regulator Type 57
Regulator Type Rh-Null Hemolytic Anemia 72
Rh-Null Disease, Regulator Type 57
Rh Deficiency Syndrome 70
Rh-Deficiency Syndrome 72
Rhnr 57
Rhn 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
rh-null, regulator type:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 268150
UMLS 70 C0272052

Summaries for Rh-Null, Regulator Type

UniProtKB/Swiss-Prot : 72 Regulator type Rh-null hemolytic anemia: Form of chronic hemolytic anemia in which the red blood cells have a stomatocytosis and spherocytosis morphology, an increased osmotic fragility, an altered ion transport system, and abnormal membrane phospholipid organization.

MalaCards based summary : Rh-Null, Regulator Type, also known as anemia, hemolytic, rh-null, regulator type, is related to rh deficiency syndrome and retinohepatoendocrinologic syndrome. An important gene associated with Rh-Null, Regulator Type is RHAG (Rh Associated Glycoprotein). Related phenotypes are jaundice and hemolytic anemia

More information from OMIM: 268150

Related Diseases for Rh-Null, Regulator Type

Diseases related to Rh-Null, Regulator Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rh deficiency syndrome 11.7
2 retinohepatoendocrinologic syndrome 11.1
3 hemolytic anemia 10.0
4 triiodothyronine receptor auxiliary protein 10.0
5 rh-null, amorph type 9.9

Graphical network of the top 20 diseases related to Rh-Null, Regulator Type:



Diseases related to Rh-Null, Regulator Type

Symptoms & Phenotypes for Rh-Null, Regulator Type

Human phenotypes related to Rh-Null, Regulator Type:

31
# Description HPO Frequency HPO Source Accession
1 jaundice 31 HP:0000952
2 hemolytic anemia 31 HP:0001878
3 stomatocytosis 31 HP:0004446
4 unconjugated hyperbilirubinemia 31 HP:0008282
5 increased red cell osmotic fragility 31 HP:0005502

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
jaundice

Hematology:
hemolytic anemia
stomatocytosis
unconjugated hyperbilirubinemia
increased fetal hemoglobin
no red cell rh blood group antigens
more

Clinical features from OMIM®:

268150 (Updated 20-May-2021)

Drugs & Therapeutics for Rh-Null, Regulator Type

Search Clinical Trials , NIH Clinical Center for Rh-Null, Regulator Type

Genetic Tests for Rh-Null, Regulator Type

Genetic tests related to Rh-Null, Regulator Type:

# Genetic test Affiliating Genes
1 Rh-Null, Regulator Type 29 RHAG

Anatomical Context for Rh-Null, Regulator Type

Publications for Rh-Null, Regulator Type

Articles related to Rh-Null, Regulator Type:

(show all 17)
# Title Authors PMID Year
1
Candidate gene acting as a suppressor of the RH locus in most cases of Rh-deficiency. 57 6
8563755 1996
2
Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene. 6
10467273 1999
3
Rhmod syndrome: a family study of the translation-initiator mutation in the Rh50 glycoprotein gene. 6
9915949 1999
4
Rh-deficiency of the regulator type caused by splicing mutations in the human RH50 gene. 6
9746795 1998
5
A novel single missense mutation identified along the RH50 gene in a composite heterozygous Rhnull blood donor of the regulator type. 6
9454778 1998
6
The human Rh50 glycoprotein gene. Structural organization and associated splicing defect resulting in Rh(null) disease. 6
9442063 1998
7
Defining the Rh blood group antigens. Biochemistry and molecular genetics. 57
7888828 1994
8
Identification of a cell-surface antigen produced by a gene on human chromosome 3 (cen-q22) and not expressed by Rhnull cells. 57
3120581 1987
9
Hematological aspect of Rh deficiency syndrome: a case report and a review of the literature. 57
3103426 1987
10
Identical twins with the Rhnull phenotype of the regulator type in a Finnish Lapp family. 57
3920829 1985
11
Differences between Bombay and Rhnull phenotypes. 57
4209322 1974
12
An unlinked modifier of Rh blood groups: effects when heterozygous and when homozygous. 57
4628355 1972
13
A new cause of haemolytic anaemia? 57
4100229 1971
14
Hematological observations on the anemia associated with blood type Rhnull. 57
4247573 1970
15
Multiple phenotypic abnormalities associated with Rh-null (---/---). 57
4962358 1967
16
A sample of blood with no detectable Rh antigens. 57
13782143 1961
17
Antibody produced against isolated Rh(D) polypeptide reacts with other Rh-related antigens. 61
2460158 1988

Variations for Rh-Null, Regulator Type

ClinVar genetic disease variations for Rh-Null, Regulator Type:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RHAG NM_000324.2(RHAG):c.1086del (p.Ala363fs) Deletion Pathogenic 13058 rs1562011389 GRCh37: 6:49574915-49574915
GRCh38: 6:49607202-49607202
2 RHAG NM_000324.2(RHAG):c.836G>A (p.Gly279Glu) SNV Pathogenic 13060 rs121918587 GRCh37: 6:49580219-49580219
GRCh38: 6:49612506-49612506
3 RHAG NM_000324.2(RHAG):c.157+1G>A SNV Pathogenic 13061 rs375508949 GRCh37: 6:49604368-49604368
GRCh38: 6:49636655-49636655
4 RHAG NM_000324.2(RHAG):c.946-1G>A SNV Pathogenic 13062 rs1562012697 GRCh37: 6:49578859-49578859
GRCh38: 6:49611146-49611146
5 RHAG NM_000324.2(RHAG):c.1067+1G>A SNV Pathogenic 13064 rs1562012617 GRCh37: 6:49578736-49578736
GRCh38: 6:49611023-49611023
6 RHAG NM_000324.2(RHAG):c.1139G>T (p.Gly380Val) SNV Pathogenic 13066 rs121918589 GRCh37: 6:49574634-49574634
GRCh38: 6:49606921-49606921
7 RHAG NM_000324.2(RHAG):c.808G>A (p.Val270Ile) SNV Pathogenic 13065 rs16879498 GRCh37: 6:49580247-49580247
GRCh38: 6:49612534-49612534
8 RHAG NM_000324.2(RHAG):c.154_157delinsGA (p.Pro52fs) Indel Pathogenic 13057 rs387906519 GRCh37: 6:49604369-49604372
GRCh38: 6:49636656-49636659
9 RHAG NM_000324.2(RHAG):c.808G>A (p.Val270Ile) SNV Benign 225454 rs16879498 GRCh37: 6:49580247-49580247
GRCh38: 6:49612534-49612534

UniProtKB/Swiss-Prot genetic disease variations for Rh-Null, Regulator Type:

72
# Symbol AA change Variation ID SNP ID
1 RHAG p.Ser79Asn VAR_006921 rs121918586
2 RHAG p.Gly279Glu VAR_015856 rs121918587
3 RHAG p.Gly280Arg VAR_015857 rs104893987
4 RHAG p.Gly380Val VAR_015858 rs121918589

Expression for Rh-Null, Regulator Type

Search GEO for disease gene expression data for Rh-Null, Regulator Type.

Pathways for Rh-Null, Regulator Type

GO Terms for Rh-Null, Regulator Type

Sources for Rh-Null, Regulator Type

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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