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MCID: RTC002
MIFTS: 52
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Reticular Dysgenesis
Categories:
Genetic diseases, Rare diseases, Blood diseases, Immune diseases
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MalaCards integrated aliases for Reticular Dysgenesis:
Characteristics:Orphanet epidemiological data:59
reticular dysgenesis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood; HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Blood diseases Immune diseases
ICD10:
34
External Ids:
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NIH Rare Diseases
:
53
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 33355Disease definitionReticular 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 transcriptionrepressor (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 severe combined immunodeficiency and combined immunodeficiency, x-linked. An important gene associated with Reticular Dysgenesis is AK2 (Adenylate Kinase 2), and among its related pathways/superpathways are Purine metabolism and Purine metabolism (KEGG). The drugs alemtuzumab and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone and bone marrow, and related phenotypes are failure to thrive and hearing impairment UniProtKB/Swiss-Prot : 75 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. 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. Wikipedia : 76 Reticular dysgenesis (RD) is a rare, inherited autosomal recessive disease that results in... more...
Description from OMIM:
267500
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:267500Human phenotypes related to Reticular Dysgenesis:59 32 (show all 26)
GenomeRNAi Phenotypes related to Reticular Dysgenesis according to GeneCards Suite gene sharing:26
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Drugs for Reticular Dysgenesis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 16)
Interventional clinical trials:
Cochrane evidence based reviews: reticular dysgenesis |
MalaCards organs/tissues related to Reticular Dysgenesis:41
Myeloid,
Bone,
Bone Marrow,
Thymus,
Nk Cells,
Skin,
T Cells
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Articles related to Reticular Dysgenesis:(show all 24)
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Genes related to Reticular Dysgenesis (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Reticular Dysgenesis:75
ClinVar genetic disease variations for Reticular Dysgenesis:6
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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:37
Pathways related to Reticular Dysgenesis according to GeneCards Suite gene sharing:
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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:
Molecular functions related to Reticular Dysgenesis according to GeneCards Suite gene sharing:
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