ORPHA:71275

Rh deficiency syndrome

Synonyms: Rh-null syndrome

Type: Disease
Group: Disorder
Inheritance: Autosomal recessive
Age of onset: No data available
Status: active

A rare constitutional hemolytic anemia due to a red cell membrane anomaly characterized by lack or severe reduction of Rh blood group antigens, resulting in increased osmotic fragility of red blood cells and chronic hemolytic anemia of varying severity with stomatocytosis and spherocytosis. Two types of the syndrome arising from independent genetic mechanisms have been distinguished: the regulator type is caused by defects of the Rh associated glycoprotein (encoded by the <i>RHAG</i> gene), while the amorph type is due to mutations at the <i>RH</i> locus itself.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Rh deficiency syndrome	Rh-null syndrome
fr	Syndrome de déficit Rh
de	Rh-null-Syndrom	Rh-Mangel-Syndrom
es	Síndrome de deficiencia de Rh
it	Sindrome da deficit di Rh	Sindrome del Rh null
nl	Rh-deficiëntiesyndroom	Rh-nulsyndroom
pt	Síndrome de deficiência de Rh	Síndrome de Rh nulo
pl	Zespół niedoboru Rh	= en
cs	Syndrom deficitu Rh antigenů	Syndrom nepřítomnosti Rh antigenů
uk	Синдром резус-дефіциту	Синдром резус-негативності
zh	Rh缺乏综合征	Rh因子缺乏综合征
tr	Rh eksikliği sendromu	Rh-null sendromu

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	268150	NTBT		validated
OMIM	617970	BTNT		validated
OMIM	619462	BTNT		validated
ICD-10	D58.8	NTBT	attributed	validated
ICD-11	3A10.Y	NTBT	index	validated
MONDO	0019107	E		validated
MeSH	C562717	E		validated
UMLS	C0272052	E		validated
GARD	12916	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:97992Rare hematologic disease

Parents in the classifications (1):

ORPHA:98365Hereditary stomatocytosis
rare genetic diseases; rare hematological diseases

No children.

Genes

3 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
RHAG	Disease-causing germline mutation(s) in	Assessed	HGNC:10006	ENSG00000112077	180297	6p12.3	Rh associated glycoprotein	8563755[PMID]_9716608[PMID]
RHCE	Disease-causing germline mutation(s) in	Assessed	HGNC:10008	ENSG00000188672	111700	1p36.11	Rh blood group CcEe antigens	9657766[PMID]_9657769[PMID]
RHD	Disease-causing germline mutation(s) in	Assessed	HGNC:10009	ENSG00000187010	111680	1p36.11	Rh blood group D antigen	9657769[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

20 annotations · validated 2021-09-16

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001878	Hemolytic anemia
HP:0005502	Increased red cell osmotic fragility
HP:0032366	Positive direct antiglobulin test
HP:0020181	Reduced haptoglobin level
HP:0001923	Reticulocytosis
Frequent (79-30%)
HP:0002904	Hyperbilirubinemia
HP:0032231	Hypochromia
HP:0025435	Increased circulating lactate dehydrogenase concentration
HP:0004444	Spherocytosis
HP:0004446	Stomatocytosis
Occasional (29-5%)
HP:0011273	Anisocytosis
HP:0001433	Hepatosplenomegaly
HP:0012418	Hypoxemia
HP:0001511	Intrauterine growth retardation
HP:0000952	Jaundice
HP:0001562	Oligohydramnios
HP:0005268	Spontaneous abortion
HP:0001649	Tachycardia
HP:0002789	Tachypnea
Very rare (<4-1%)
HP:0001972	Macrocytic anemia

Run the differential on the 5 obligate / very frequent terms

Annotation source: 32378229[PMID]_25413218[PMID]_32484254[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/71275
This record as JSON: /data/d/71275.json