MCID: RHN013
MIFTS: 29

Rh-Null, Regulator Type

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Rh-Null, Regulator Type

MalaCards integrated aliases for Rh-Null, Regulator Type:

Name: Rh-Null, Regulator Type 57 29 6 40
Anemia, Hemolytic, Rh-Null, Regulator Type 57 13
Rh Deficiency Syndrome 59 73
Rh-Null Hemolytic Anemia, Regulator Type 57
Regulator Type Rh-Null Hemolytic Anemia 75
Rh-Null Disease, Regulator Type 57
Rh-Deficiency Syndrome 75
Rh-Null Syndrome 59
Rhnr 57
Rhn 75

Characteristics:

Orphanet epidemiological data:

59
rh deficiency syndrome
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
rh-null, regulator type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 268150
Orphanet 59 ORPHA71275
UMLS via Orphanet 74 C0272052 C1849387
ICD10 via Orphanet 34 D58.8
UMLS 73 C0272052

Summaries for Rh-Null, Regulator Type

UniProtKB/Swiss-Prot : 75 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 and blood group incompatibility. An important gene associated with Rh-Null, Regulator Type is RHAG (Rh Associated Glycoprotein). Related phenotypes are jaundice and hemolytic anemia

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 31.2 RHAG RHCE RHD
2 blood group incompatibility 9.5 RHCE RHD
3 fetal erythroblastosis 9.4 RHCE RHD
4 anemia, autoimmune hemolytic 9.3 RHCE RHD
5 autoimmune disease of blood 9.2 RHCE RHD
6 rh isoimmunization 9.0 RHCE RHD

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

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
jaundice

Hematology:
hemolytic anemia
no red cell rh blood group antigens
weak reaction with anti-u and anti-s
unconjugated hyperbilirubinemia
shortened red cell survival
more

Clinical features from OMIM:

268150

Human phenotypes related to Rh-Null, Regulator Type:

32
# Description HPO Frequency HPO Source Accession
1 jaundice 32 HP:0000952
2 hemolytic anemia 32 HP:0001878
3 stomatocytosis 32 HP:0004446
4 increased red cell osmotic fragility 32 HP:0005502
5 unconjugated hyperbilirubinemia 32 HP:0008282

GenomeRNAi Phenotypes related to Rh-Null, Regulator Type according to GeneCards Suite gene sharing:

26 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.93 RHCE RHD
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.93 RHAG
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.93 RHCE RHD RHAG
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.93 RHD
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.93 RHD
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.93 RHCE
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.93 RHAG
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.93 RHAG
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.93 RHAG
10 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.5 RHCE
11 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.5 RHD
12 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.5 RHCE
13 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.5 RHCE
14 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.5 RHD
15 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.5 RHCE
16 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.5 RHD
17 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.5 RHD
18 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.5 RHD
19 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.5 RHCE
20 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.5 RHD
21 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.5 RHCE
22 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.5 RHCE
23 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.5 RHCE RHD

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:

# 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-Null, Regulator Type

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

75
# 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
# 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 RHAG, 1-BP DEL, 1086A deletion Pathogenic
4 RHAG NM_000324.2(RHAG): c.836G> A (p.Gly279Glu) single nucleotide variant Pathogenic rs121918587 GRCh37 Chromosome 6, 49580219: 49580219
5 RHAG NM_000324.2(RHAG): c.836G> A (p.Gly279Glu) single nucleotide variant Pathogenic rs121918587 GRCh38 Chromosome 6, 49612506: 49612506
6 RHAG RHAG, IVS1, G-A, +1 single nucleotide variant Pathogenic
7 RHAG RHAG, IVS6, G-A, -1 single nucleotide variant Pathogenic
8 RHAG RHAG, IVS7, G-A, +1 single nucleotide variant Pathogenic
9 RHAG NM_000324.2(RHAG): c.1139G> T (p.Gly380Val) single nucleotide variant Pathogenic rs121918589 GRCh37 Chromosome 6, 49574634: 49574634
10 RHAG NM_000324.2(RHAG): c.1139G> T (p.Gly380Val) single nucleotide variant Pathogenic rs121918589 GRCh38 Chromosome 6, 49606921: 49606921

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

Cellular components related to Rh-Null, Regulator Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 8.8 RHAG RHCE RHD

Biological processes related to Rh-Null, Regulator Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 organic cation transport GO:0015695 9.33 RHAG RHCE RHD
2 ammonium transmembrane transport GO:0072488 9.13 RHAG RHCE RHD
3 ammonium transport GO:0015696 8.8 RHAG RHCE RHD

Molecular functions related to Rh-Null, Regulator Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ammonium transmembrane transporter activity GO:0008519 8.8 RHAG RHCE RHD

Sources for Rh-Null, Regulator Type

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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