RHNA
MCID: RHN014
MIFTS: 16

Rh-Null, Amorph Type (RHNA)

Categories: Blood diseases, Genetic diseases, Immune diseases

Aliases & Classifications for Rh-Null, Amorph Type

MalaCards integrated aliases for Rh-Null, Amorph Type:

Name: Rh-Null, Amorph Type 57 72 6
Rh-Null Disease, Amorph Type 57 72
Rhna 57 72
Rh-Null Syndrome, Amorph Type 72
Rh-Hr Blood-Group System 44

Classifications:



External Ids:

OMIM® 57 617970
MedGen 41 CN244925

Summaries for Rh-Null, Amorph Type

OMIM® : 57 The RH-null phenotype designates rare individuals whose red blood cells lack all Rh antigens. Two RH-null types, the regulator type (268150) and the amorph type, arising from independent genetic mechanisms have been distinguished. The regulator type is caused by mutation in the RHAG gene (180297). The amorph type arises from mutations at the RH locus itself that silence Rh expression. The RH locus contains the RHD (111680) and RHCE genes tandemly arranged at chromosome 1p36-p34. Four genes must therefore be silenced to produce the RH-null phenotype. The absence of the D antigen, produced by the RHD gene, is common in the human population; the D-negative phenotype may result from deletion or genetic alteration of the RHD gene. The RH-null amorph phenotype thus arises from inactivating mutations in RHCE on a D-negative background (summary by Huang et al., 1998, Huang et al., 2000). Clinically, Rh-null patients present mild to moderate hemolytic anemia; cells exhibit characteristic morphologic and functional abnormalities including spherocytosis, stomatocytosis, and diminished lifespan. Rh-null patients rarely develop antibodies without stimulation, and most cases occur in response to pregnancy or transfusion (Silvy et al., 2015). (617970) (Updated 05-Apr-2021)

MalaCards based summary : Rh-Null, Amorph Type, is also known as rh-null disease, amorph type. An important gene associated with Rh-Null, Amorph Type is RHCE (Rh Blood Group CcEe Antigens). Affiliated tissues include neutrophil.

UniProtKB/Swiss-Prot : 72 Rh-null, amorph type: An autosomal recessive condition characterized by red blood cells that lack all Rh antigens, have increased osmotic fragility, diminished lifespan, and show changes in morphology resulting in stomatocytosis. Rh-null individuals have mild to moderate hemolytic anemia. They are at risk of having adverse reactions in response to transfusion or pregnancy, because they may produce antibodies against several of the Rh antigens.

Related Diseases for Rh-Null, Amorph Type

Symptoms & Phenotypes for Rh-Null, Amorph Type

Clinical features from OMIM®:

617970 (Updated 05-Apr-2021)

Drugs & Therapeutics for Rh-Null, Amorph Type

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

Cochrane evidence based reviews: rh-hr blood-group system

Genetic Tests for Rh-Null, Amorph Type

Anatomical Context for Rh-Null, Amorph Type

MalaCards organs/tissues related to Rh-Null, Amorph Type:

40
Neutrophil

Publications for Rh-Null, Amorph Type

Articles related to Rh-Null, Amorph Type:

(show all 12)
# Title Authors PMID Year
1
Rhnull syndrome: identification of a novel mutation in RHce. 61 57 6
16271106 2005
2
Short duplication within the RHCE gene associated with an in cis deleted RHD causing a Rhnull amorph phenotype in an immunized pregnant woman with anti-Rh29. 57 6
25413218 2015
3
Molecular defects of the RHCE gene in Rh-deficient individuals of the amorph type. 6 57
9657766 1998
4
Spanish Rhnull family caused by a silent Rh gene: hematological, serological, and biochemical studies. 57 6
1503086 1992
5
Two siblings with Rh null disease. 6 57
4627672 1972
6
Molecular biology and genetics of the Rh blood group system. 57
10791884 2000
7
Rhnull disease: the amorph type results from a novel double mutation in RhCe gene on D-negative background. 57
9657769 1998
8
Genetic recombination at the human RH locus: a family study of the red-cell Evans phenotype reveals a transfer of exons 2-6 from the RHD to the RHCE gene. 6
8808597 1996
9
Hematological aspect of Rh deficiency syndrome: a case report and a review of the literature. 57
3103426 1987
10
Rapid health needs assessment experience in 11 august 2012 East azerbaijan earthquakes: a qualitative study. 61
25045586 2014
11
Rapid enzyme-linked immunosorbent assay for the detection of antibodies against human neutrophil antigens -1a, -1b, and -1c. 61
22554254 2013
12
A novel enzyme-linked immunosorbent assay method for the detection of human neutrophil antigen-2a antibodies. 61
19497055 2009

Variations for Rh-Null, Amorph Type

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RHCE RHCE, 2-BP DEL, 966T AND 968A Deletion Pathogenic 17710 GRCh37:
GRCh38:
2 RHCE RHCE, IVS4, G-T, +1 SNV Pathogenic 523640 GRCh37:
GRCh38:
3 RHCE RHCE, 1-BP DEL, 960G Deletion Pathogenic 523641 GRCh37:
GRCh38:
4 RHCE NM_138618.5(RHCE):c.939+3236_939+3242dup Duplication Pathogenic 523642 rs1553156106 GRCh37: 1:25712224-25712225
GRCh38: 1:25385733-25385734

Expression for Rh-Null, Amorph Type

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

Pathways for Rh-Null, Amorph Type

GO Terms for Rh-Null, Amorph Type

Sources for Rh-Null, Amorph 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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