RHN
MCID: RHN013
MIFTS: 21

Rh-Null, Regulator Type (RHN)

Categories: Genetic diseases

Aliases & Classifications for Rh-Null, Regulator Type

MalaCards integrated aliases for Rh-Null, Regulator Type:

Name: Rh-Null, Regulator Type 58 30 6 41
Anemia, Hemolytic, Rh-Null, Regulator Type 58 13
Rh-Null Hemolytic Anemia, Regulator Type 58
Regulator Type Rh-Null Hemolytic Anemia 76
Rh-Null Disease, Regulator Type 58
Rh Deficiency Syndrome 74
Rh-Deficiency Syndrome 76
Rhnr 58
Rhn 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
rh-null, regulator type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 268150
UMLS 74 C0272052

Summaries for Rh-Null, Regulator Type

UniProtKB/Swiss-Prot : 76 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 retinohepatoendocrinologic syndrome. An important gene associated with Rh-Null, Regulator Type is RHAG (Rh Associated Glycoprotein). Related phenotypes are hemolytic anemia and jaundice

Description 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 retinohepatoendocrinologic syndrome 12.4

Symptoms & Phenotypes for Rh-Null, Regulator Type

Human phenotypes related to Rh-Null, Regulator Type:

33
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 33 HP:0001878
2 jaundice 33 HP:0000952
3 unconjugated hyperbilirubinemia 33 HP:0008282
4 stomatocytosis 33 HP:0004446
5 increased red cell osmotic fragility 33 HP:0005502

Symptoms via clinical synopsis from OMIM:

58
Hematology:
hemolytic anemia
unconjugated hyperbilirubinemia
stomatocytosis
increased fetal hemoglobin
no red cell rh blood group antigens
more
Skin Nails Hair Skin:
jaundice

Clinical features from OMIM:

268150

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 30 RHAG

Anatomical Context for Rh-Null, Regulator Type

Publications for Rh-Null, Regulator Type

Articles related to Rh-Null, Regulator Type:

# Title Authors Year
1
Rh-deficiency syndrome. ( 11784606 )
2001
2
Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene. ( 10467273 )
1999
3
Rhmod syndrome: a family study of the translation-initiator mutation in the Rh50 glycoprotein gene. ( 9915949 )
1999
4
Rh-deficiency of the regulator type caused by splicing mutations in the human RH50 gene. ( 9746795 )
1998
5
A novel single missense mutation identified along the RH50 gene in a composite heterozygous Rhnull blood donor of the regulator type. ( 9454778 )
1998
6
The human Rh50 glycoprotein gene. Structural organization and associated splicing defect resulting in Rh(null) disease. ( 9442063 )
1998
7
Candidate gene acting as a suppressor of the RH locus in most cases of Rh-deficiency. ( 8563755 )
1996
8
Structure and expression of the RH locus in the Rh-deficiency syndrome. ( 8329719 )
1993
9
Hematological aspect of Rh deficiency syndrome: a case report and a review of the literature. ( 3103426 )
1987

Variations for Rh-Null, Regulator Type

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

76
# 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

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

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 RHAG NM_000324.2(RHAG): c.154_157delCCTCinsGA (p.Pro52Aspfs) indel Pathogenic rs387906519 GRCh37 Chromosome 6, 49604369: 49604372
2 RHAG NM_000324.2(RHAG): c.154_157delCCTCinsGA (p.Pro52Aspfs) indel Pathogenic rs387906519 GRCh38 Chromosome 6, 49636656: 49636659
3 RHAG NM_000324.2(RHAG): c.1086delA (p.Ala363Leufs) deletion Pathogenic GRCh38 Chromosome 6, 49607202: 49607202
4 RHAG NM_000324.2(RHAG): c.1086delA (p.Ala363Leufs) deletion Pathogenic GRCh37 Chromosome 6, 49574915: 49574915
5 RHAG NM_000324.2(RHAG): c.836G> A (p.Gly279Glu) single nucleotide variant Pathogenic rs121918587 GRCh37 Chromosome 6, 49580219: 49580219
6 RHAG NM_000324.2(RHAG): c.836G> A (p.Gly279Glu) single nucleotide variant Pathogenic rs121918587 GRCh38 Chromosome 6, 49612506: 49612506
7 RHAG NM_000324.2(RHAG): c.157+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 6, 49604368: 49604368
8 RHAG NM_000324.2(RHAG): c.157+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 6, 49636655: 49636655
9 RHAG NM_000324.2(RHAG): c.946-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 6, 49578859: 49578859
10 RHAG NM_000324.2(RHAG): c.946-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 6, 49611146: 49611146
11 RHAG NM_000324.2(RHAG): c.1067+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 6, 49578736: 49578736
12 RHAG NM_000324.2(RHAG): c.1067+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 6, 49611023: 49611023
13 RHAG NM_000324.2(RHAG): c.808G> A (p.Val270Ile) single nucleotide variant Benign rs16879498 GRCh37 Chromosome 6, 49580247: 49580247
14 RHAG NM_000324.2(RHAG): c.808G> A (p.Val270Ile) single nucleotide variant Benign rs16879498 GRCh38 Chromosome 6, 49612534: 49612534
15 RHAG NM_000324.2(RHAG): c.1139G> T (p.Gly380Val) single nucleotide variant Pathogenic rs121918589 GRCh37 Chromosome 6, 49574634: 49574634
16 RHAG NM_000324.2(RHAG): c.1139G> T (p.Gly380Val) single nucleotide variant Pathogenic rs121918589 GRCh38 Chromosome 6, 49606921: 49606921
17 RHAG NM_000324.2(RHAG): c.838G> A (p.Gly280Arg) single nucleotide variant no interpretation for the single variant rs104893987 GRCh37 Chromosome 6, 49580217: 49580217
18 RHAG NM_000324.2(RHAG): c.838G> A (p.Gly280Arg) single nucleotide variant no interpretation for the single variant rs104893987 GRCh38 Chromosome 6, 49612504: 49612504

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

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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