Details of Disease

General Information of Disease (ID: DISW2W1R)

• Disease Name: Rh deficiency syndrome
• Synonyms: Rh-null disease, regulator type; RHN; Rh-Mod; Rh-null disease; RH-null, regulator type; Rh-null hemolytic Anemia, regulator type; RHNR; Rh-null syndrome; anemia, hemolytic, Rh-null, regulator type; Rh deficiency syndrome
• Definition: The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia.
• Disease Hierarchy:
  DIS487SI: Hereditary haemolytic anemia
  DIS4TC4I: Hereditary stomatocytosis
  DISW2W1R: Rh deficiency syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0019107
  MESH ID: C562717
  UMLS CUI: C0272052
  MedGen ID: 75772
  Orphanet ID: 71275
  SNOMED CT ID: 37272000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RHD	TTLCKI8	Supportive	Autosomal recessive	[1]
RHAG	TTVHFE8	Strong	Autosomal recessive	[2]
RHAG	TTVHFE8	Strong	GermlineCausalMutation	[3]
RHD	TTLCKI8	Definitive	GermlineCausalMutation	[1]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RHCE	OTS18IZ5	Supportive	Autosomal recessive	[4]
RHD	OTUPKABF	Supportive	Autosomal recessive	[1]
RHAG	OTJZWXE8	Strong	Autosomal recessive	[2]

References

• [1] Rhnull disease: the amorph type results from a novel double mutation in RhCe gene on D-negative background. Blood. 1998 Jul 15;92(2):664-71.
• [2] First report of Rh(null) individuals in the Indian population and characterization of the underlying molecular mechanisms. Transfusion. 2017 Aug;57(8):1944-1948. doi: 10.1111/trf.14150. Epub 2017 May 3.
• [3] Rh50 glycoprotein gene and rhnull disease: a silent splice donor is trans to a Gly279-->Glu missense mutation in the conserved transmembrane segment.Blood. 1998 Sep 1;92(5):1776-84.
• [4] Molecular defects of the RHCE gene in Rh-deficient individuals of the amorph type. Blood. 1998 Jul 15;92(2):639-46.