MCID: RHN014
MIFTS: 7

Rh-Null, Amorph Type

Categories: Genetic diseases

Aliases & Classifications for Rh-Null, Amorph Type

MalaCards integrated aliases for Rh-Null, Amorph Type:

Name: Rh-Null, Amorph Type 57 6
Rh-Null Disease, Amorph Type 57
Rhna 57

Classifications:



External Ids:

OMIM 57 617970

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)

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).

Related Diseases for Rh-Null, Amorph Type

Symptoms & Phenotypes for Rh-Null, Amorph Type

Clinical features from OMIM:

617970

Drugs & Therapeutics for Rh-Null, Amorph Type

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Anatomical Context for Rh-Null, Amorph Type

Publications for Rh-Null, Amorph Type

Variations for Rh-Null, Amorph Type

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RHCE RHCE, 2-BP DEL, 966T AND 968A deletion Pathogenic
2 RHCE NM_020485.5(RHCE): c.1044_1050dup (p.Thr351Alafs) duplication Pathogenic GRCh37 Chromosome 1, 25712225: 25712231
3 RHCE NM_020485.5(RHCE): c.1044_1050dup (p.Thr351Alafs) duplication Pathogenic GRCh38 Chromosome 1, 25385734: 25385740
4 RHCE RHCE, IVS4, G-T, +1 single nucleotide variant Pathogenic
5 RHCE RHCE, 1-BP DEL, 960G deletion Pathogenic

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

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