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RDYS
MCID: RTC002
MIFTS: 52
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Reticular Dysgenesis (RDYS)
Categories:
Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases
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MalaCards integrated aliases for Reticular Dysgenesis:
Characteristics:Orphanet epidemiological data:58
reticular dysgenesis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
early death in the first few weeks of life HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Blood diseases Immune diseases Bone diseases
ICD10:
33
Orphanet: 58
Rare immunological diseases External Ids:
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GARD :
20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 33355DefinitionReticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.EpidemiologyReticular dysgenesis accounts for less than 2% of all SCID cases. The annual incidence has been estimated at 1/3,000,000-1/5,000,000. Both males and females are affected, and consanguinity has been noted in several families.Clinical descriptionThe disease presents earlier than other forms of SCID, at birth or early in the neonatal period, with signs of sepsis, failure to thrive, diarrhea, fever, recurrent infections including upper respiratory tract infections, oral candidiasis, perianal infections and abscesses, and bilateral sensorineural deafness. Despite recurrent infections, no significant lymphoid or tonsillar tissue is evident. Hemoglobin levels are usually within reference ranges at birth, but patients may develop anemia secondary to sepsis and chronic illness.EtiologyReticular dysgenesis is characterized by profound neutropenia and T and natural killer (NK) cell lymphocytopenia, and is caused by mutations in the AK2 gene (1p34). The resulting deficiency in adenylate kinase 2 causes increased apoptosis of myeloid and lymphoid precursors. However, patients without this mutation have been observed implying an alternative cause. An imbalance of growth factor independent-1 transcription repressor (Gfi-1) and/or Gfi-1b has been proposed.Diagnostic methodsDiagnosis is based on evidence of sensorineural deafness in combination with evidence of a marked reduction of T and NK cell counts when compared to age-matched healthy controls. Materno-fetal engraftment is usually present.Differential diagnosisDifferential diagnosis includes all other forms of SCID.Antenatal diagnosisPrenatal diagnosis can be performed in families where there is a family history and where the genetic mutation has been identified.Genetic counselingTransmission is autosomal recessive.Management and treatmentThe only curative treatment for this disease is allogenic hematopoietic stem cell transplantation.PrognosisWithout treatment, patients die from septicemia within days after birth.Visit the Orphanet disease page for more resources.
MalaCards based summary : Reticular Dysgenesis, also known as severe combined immunodeficiency with leukopenia, is related to lymphopenia and severe combined immunodeficiency. An important gene associated with Reticular Dysgenesis is AK2 (Adenylate Kinase 2), and among its related pathways/superpathways are Purine metabolism and Metabolism of nucleotides. Affiliated tissues include myeloid, thymus and bone marrow, and related phenotypes are hearing impairment and chronic otitis media Disease Ontology : 12 A severe combined immunodeficiency that is the most severe form of SCID and has material basis in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. KEGG : 36 Reticular dysgenesis (RD) is a rare congenital immunodeficiency classified within the severe combined immunodeficiencies (SCIDs). It is inherited in an autosomal recessive manner, and is characterized by absence of granulocytes and almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immune functions, leading to fatal septicemia within days after birth. The bone marrow showed a maturation arrest in the myeloid and lymphoid lineage. The underlying genetic defect for most cases of RD have been identified in the gene encoding adenylate kinase 2 (AK2). UniProtKB/Swiss-Prot : 73 Reticular dysgenesis: A fatal form of severe combined immunodeficiency, characterized by absence of granulocytes, almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immunity, leading to fatal septicemia within days after birth. In bone marrow of individuals with reticular dysgenesis, myeloid differentiation is blocked at the promyelocytic stage, whereas erythro- and megakaryocytic maturation is generally normal. Inheritance is autosomal recessive. Wikipedia : 74 Reticular dysgenesis (RD) is a rare, inherited autosomal recessive disease that results in... more...
More information from OMIM:
267500
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Human phenotypes related to Reticular Dysgenesis:58 31 (show all 27)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:267500 (Updated 05-Mar-2021)GenomeRNAi Phenotypes related to Reticular Dysgenesis according to GeneCards Suite gene sharing:26 (show all 35)
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Cochrane evidence based reviews: reticular dysgenesis |
MalaCards organs/tissues related to Reticular Dysgenesis:40
Myeloid,
Thymus,
Bone Marrow,
Bone,
Neutrophil,
Liver,
Monocytes
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Articles related to Reticular Dysgenesis:(show top 50) (show all 60)
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Genes related to Reticular Dysgenesis (1 elite genes):(show all 14) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Reticular Dysgenesis:6 (show top 50) (show all 64)
UniProtKB/Swiss-Prot genetic disease variations for Reticular Dysgenesis:73
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Search
GEO
for disease gene expression data for Reticular Dysgenesis.
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Pathways related to Reticular Dysgenesis according to KEGG:36
Pathways related to Reticular Dysgenesis according to GeneCards Suite gene sharing:(show all 12)
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Cellular components related to Reticular Dysgenesis according to GeneCards Suite gene sharing:
Biological processes related to Reticular Dysgenesis according to GeneCards Suite gene sharing:(show all 23)
Molecular functions related to Reticular Dysgenesis according to GeneCards Suite gene sharing:
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