RDYS
MCID: RTC002
MIFTS: 50

Reticular Dysgenesis (RDYS)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Reticular Dysgenesis

MalaCards integrated aliases for Reticular Dysgenesis:

Name: Reticular Dysgenesis 57 12 53 59 75 37 29 13 55 6 44 15 40 73
Severe Combined Immunodeficiency with Leukopenia 57 53 59 75
De Vaal Disease 57 12 59 75
Congenital Aleukia 57 53 75
Aleukocytosis 57 12 75
Hematopoietic Hypoplasia, Generalized 57 75
Generalized Hematopoietic Hypoplasia 59
Congenital Aleukocytosis 59
Reticular Dysgenesia 57
Scid with Leukopenia 59
Devaal Disease 53
Ak2 Deficiency 59
Rdys 75
Rd 53

Characteristics:

Orphanet epidemiological data:

59
reticular dysgenesis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
early death in the first few weeks of life


HPO:

32
reticular dysgenesis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 267500
Disease Ontology 12 DOID:0060020
NCIt 50 C27070
Orphanet 59 ORPHA33355
MESH via Orphanet 45 C538361
UMLS via Orphanet 74 C0272167 C1282908
ICD10 via Orphanet 34 D81.0
MedGen 42 C0272167
KEGG 37 H01128
UMLS 73 C0272167

Summaries for Reticular Dysgenesis

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 t cell and b cell immunodeficiency. 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 Fludarabine and Vidarabine have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone and thymus, and related phenotypes are failure to thrive and hearing impairment

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.

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.

Wikipedia : 76 Reticular dysgenesis (RD) is a rare, inherited autosomal recessive disease that results in... more...

Description from OMIM: 267500

Related Diseases for Reticular Dysgenesis

Diseases related to Reticular Dysgenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency 31.0 ADA AK2
2 combined t cell and b cell immunodeficiency 29.7 ADA AK2
3 respiratory distress syndrome in premature infants 12.1
4 restrictive dermopathy, lethal 11.8
5 immunoerythromyeloid hypoplasia 11.6
6 respiratory distress syndrome, infant 11.5
7 bronchopulmonary dysplasia 11.4
8 renal hypodysplasia/aplasia 1 11.0
9 renal hypodysplasia/aplasia 2 11.0
10 radin blood group antigen 11.0
11 refsum disease, classic 11.0
12 adult respiratory distress syndrome 11.0
13 retinal degeneration 10.5
14 retinitis 10.4
15 retinitis pigmentosa 10.4
16 leber congenital amaurosis 4 10.4
17 rhabdomyosarcoma 10.4
18 haemophilus influenzae 10.1
19 cone-rod dystrophy 2 10.0
20 fundus dystrophy 10.0
21 macular dystrophy, patterned, 1 10.0
22 retinoblastoma 10.0
23 embryonal rhabdomyosarcoma 10.0
24 butterfly-shaped pigment dystrophy 10.0
25 omenn syndrome 10.0
26 myelodysplastic syndrome 10.0
27 hematopoietic stem cell transplantation 10.0
28 fundus albipunctatus 9.9
29 disorganization, mouse, homolog of 9.9
30 macular degeneration, age-related, 1 9.9
31 polycystic kidney disease 9.9
32 placenta praevia 9.9
33 kidney disease 9.9
34 retinal disease 9.9
35 burkitt lymphoma 9.7
36 hepatocellular carcinoma 9.7
37 hypercarotenemia and vitamin a deficiency, autosomal dominant 9.7
38 glioma susceptibility 1 9.7
39 diaphragmatic hernia, congenital 9.7
40 macular dystrophy, concentric annular 9.7
41 retinal detachment 9.7
42 rheumatoid arthritis 9.7
43 neural tube defects 9.7
44 tracheoesophageal fistula with or without esophageal atresia 9.7
45 acheiropody 9.7
46 stargardt disease 1 9.7
47 myeloma, multiple 9.7
48 neuroblastoma 9.7
49 polycystic kidney disease 4 with or without polycystic liver disease 9.7
50 enhanced s-cone syndrome 9.7

Graphical network of the top 20 diseases related to Reticular Dysgenesis:



Diseases related to Reticular Dysgenesis

Symptoms & Phenotypes for Reticular Dysgenesis

Symptoms via clinical synopsis from OMIM:

57
Hematology:
lymphopenia
leukopenia
congenital agranulocytosis
absent bone marrow myeloid elements

Immunology:
absent cellular immunity
thymic hypoplasia
lymphoid hypoplasia
absent humoral immunity


Clinical features from OMIM:

267500

Human phenotypes related to Reticular Dysgenesis:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
2 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
3 chronic otitis media 59 32 hallmark (90%) Very frequent (99-80%) HP:0000389
4 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
5 malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002024
6 dehydration 59 32 occasional (7.5%) Occasional (29-5%) HP:0001944
7 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
8 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
9 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
10 skin ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0200042
11 decreased antibody level in blood 59 32 hallmark (90%) Very frequent (99-80%) HP:0004313
12 abnormality of mitochondrial metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0003287
13 cellular immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0005374
14 aplasia/hypoplasia of the thymus 59 32 hallmark (90%) Very frequent (99-80%) HP:0010515
15 diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002014
16 skin rash 59 32 occasional (7.5%) Occasional (29-5%) HP:0000988
17 sepsis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100806
18 abnormality of neutrophils 59 32 hallmark (90%) Very frequent (99-80%) HP:0001874
19 leukopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001882
20 severe combined immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0004430
21 lymphopenia 32 HP:0001888
22 hypoplasia of the thymus 32 HP:0000778
23 impaired t cell function 32 HP:0005435
24 congenital agranulocytosis 32 HP:0005541
25 combined immunodeficiency 32 HP:0005387
26 lack of t cell function 32 HP:0005354

GenomeRNAi Phenotypes related to Reticular Dysgenesis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 9.85 AK2 AK1
2 Decreased viability GR00221-A-1 9.85 AK7
3 Decreased viability GR00221-A-3 9.85 AK7
4 Decreased viability GR00221-A-4 9.85 AK2 AK7
5 Decreased viability GR00301-A 9.85 AK2
6 Decreased viability GR00342-S-1 9.85 AK7
7 Decreased viability GR00342-S-2 9.85 AK2 AK7
8 Decreased viability GR00342-S-3 9.85 AK2 AK7
9 Decreased viability GR00402-S-2 9.85 AK2 AK7 AK1

Drugs & Therapeutics for Reticular Dysgenesis

Drugs for Reticular Dysgenesis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Not Applicable 75607-67-9, 21679-14-1 30751
2
Vidarabine Approved, Investigational Not Applicable 24356-66-9 32326 21704
3
Cyclophosphamide Approved, Investigational Not Applicable 6055-19-2, 50-18-0 2907
4
Busulfan Approved, Investigational Not Applicable 55-98-1 2478
5
alemtuzumab Approved, Investigational Not Applicable 216503-57-0
6
Mesna Approved, Investigational Not Applicable 3375-50-6 598
7
Melphalan Approved Not Applicable 148-82-3 4053 460612
8 Immunologic Factors Not Applicable
9 Alkylating Agents Not Applicable
10 Antiviral Agents Not Applicable
11 Antirheumatic Agents Not Applicable
12 Antineoplastic Agents, Alkylating Not Applicable
13 Immunosuppressive Agents Not Applicable
14 Antimetabolites Not Applicable
15 Antimetabolites, Antineoplastic Not Applicable
16 Protective Agents Not Applicable
17 Anti-Infective Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Patients Treated for SCID (1968-Present) Recruiting NCT01346150
2 Natural History Study of SCID Disorders Recruiting NCT01186913
3 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Not Applicable Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA

Search NIH Clinical Center for Reticular Dysgenesis

Cochrane evidence based reviews: reticular dysgenesis

Genetic Tests for Reticular Dysgenesis

Genetic tests related to Reticular Dysgenesis:

# Genetic test Affiliating Genes
1 Reticular Dysgenesis 29 AK2

Anatomical Context for Reticular Dysgenesis

MalaCards organs/tissues related to Reticular Dysgenesis:

41
Myeloid, Bone, Thymus, Bone Marrow, Nk Cells, T Cells, Skin

Publications for Reticular Dysgenesis

Articles related to Reticular Dysgenesis:

(show all 24)
# Title Authors Year
1
Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome. ( 28331055 )
2017
2
Postpartum HLA-Matched Bone Marrow Donation from Mother to Neonate for Reticular Dysgenesis. ( 27913909 )
2017
3
Recent advances in understanding the pathogenesis and management of reticular dysgenesis. ( 29270983 )
2017
4
Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress. ( 26150473 )
2015
5
Skeletal abnormalities and successful hematopoietic stem cell transplantation in patients with reticular dysgenesis. ( 23763981 )
2013
6
First reported case of Omenn syndrome in a patient with reticular dysgenesis. ( 23014587 )
2013
7
Occurrence of myelodysplastic syndrome in 2 patients with reticular dysgenesis. ( 21458044 )
2011
8
Altered functional balance of Gfi-1 and Gfi-1b as an alternative cause of reticular dysgenesis? ( 19896777 )
2010
9
Reticular dysgenesis in a preterm infant: a case report. ( 20863163 )
2010
10
Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. ( 19043417 )
2009
11
Successful cord blood transplantation in a premature and dysmature neonate of 1700 g with reticular dysgenesis. ( 17262063 )
2007
12
Successful haploidentical bone marrow transplantation in a patient with reticular dysgenesis: three-year follow-up. ( 17854878 )
2007
13
Reticular dysgenesis: HLA non-identical bone marrow transplants in a series of 10 patients. ( 12040473 )
2002
14
Langerhans cell deficiency in reticular dysgenesis. ( 10891430 )
2000
15
Association of reticular dysgenesis (thymic alymphoplasia and congenital aleukocytosis) with bilateral sensorineural deafness. ( 10484810 )
1999
16
B cells and monocytes are not developmentally affected in a case of reticular dysgenesis. ( 9409641 )
1997
17
Haploidentical bone marrow transplants for two patients with reticular dysgenesis. ( 8807131 )
1996
18
Use of recombinant human granulocyte-macrophage colony stimulating factor in an infant with reticular dysgenesis. ( 8181497 )
1994
19
Effect of recombinant human granulocyte colony-stimulating factor in reticular dysgenesis. ( 7689877 )
1993
20
Use of recombinant human granulocyte colony stimulating factor in reticular dysgenesis. ( 1381605 )
1992
21
Severe congenital leukopenia (reticular dysgenesis). Immunologic and morphologic characterizations of leukocytes. ( 3875278 )
1985
22
Successful bone-marrow transplantation for reticular dysgenesis. ( 6132037 )
1983
23
Reticular dysgenesis: report of two brothers. ( 535190 )
1979
24
Severe combined immunodeficiency with leukopenia (reticular dysgenesis) in siblings: immunologic and histopathologic findings. ( 956962 )
1976

Variations for Reticular Dysgenesis

UniProtKB/Swiss-Prot genetic disease variations for Reticular Dysgenesis:

75
# Symbol AA change Variation ID SNP ID
1 AK2 p.Arg103Trp VAR_054630 rs267606648
2 AK2 p.Asp165Gly VAR_054631 rs267606643

ClinVar genetic disease variations for Reticular Dysgenesis:

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 AK2 NM_013411.4(AK2): c.636_*2601del deletion Pathogenic
2 AK2 NM_013411.4(AK2): c.118delT (p.Cys40Valfs) deletion Pathogenic rs387906581 GRCh37 Chromosome 1, 33490144: 33490144
3 AK2 NM_013411.4(AK2): c.118delT (p.Cys40Valfs) deletion Pathogenic rs387906581 GRCh38 Chromosome 1, 33024543: 33024543
4 AK2 NM_013411.4(AK2): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs137853206 GRCh37 Chromosome 1, 33502429: 33502429
5 AK2 NM_013411.4(AK2): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs137853206 GRCh38 Chromosome 1, 33036828: 33036828
6 AK2 AK2, 331, G-A, -1 single nucleotide variant Pathogenic
7 AK2 NM_013411.4(AK2): c.453delC (p.Tyr152Thrfs) deletion Pathogenic GRCh38 Chromosome 1, 33014567: 33014567
8 AK2 NM_013411.4(AK2): c.453delC (p.Tyr152Thrfs) deletion Pathogenic GRCh37 Chromosome 1, 33480168: 33480168
9 AK2 AK2, 498, G-A, +1 single nucleotide variant Pathogenic
10 AK2 NM_013411.4(AK2): c.494A> G (p.Asp165Gly) single nucleotide variant Pathogenic rs267606643 GRCh37 Chromosome 1, 33480127: 33480127
11 AK2 NM_013411.4(AK2): c.494A> G (p.Asp165Gly) single nucleotide variant Pathogenic rs267606643 GRCh38 Chromosome 1, 33014526: 33014526
12 AK2 NM_013411.4(AK2): c.556C> T (p.Arg186Cys) single nucleotide variant Pathogenic rs267606645 GRCh37 Chromosome 1, 33478946: 33478946
13 AK2 NM_013411.4(AK2): c.556C> T (p.Arg186Cys) single nucleotide variant Pathogenic rs267606645 GRCh38 Chromosome 1, 33013345: 33013345
14 AK2 AK2, EX2 DEL deletion Pathogenic
15 AK2 NM_013411.4(AK2): c.307C> T (p.Arg103Trp) single nucleotide variant Pathogenic rs267606648 GRCh37 Chromosome 1, 33487217: 33487217
16 AK2 NM_013411.4(AK2): c.307C> T (p.Arg103Trp) single nucleotide variant Pathogenic rs267606648 GRCh38 Chromosome 1, 33021616: 33021616
17 AK2 NM_001625.3(AK2): c.697A> T (p.Lys233Ter) single nucleotide variant Pathogenic rs267606646 GRCh37 Chromosome 1, 33478805: 33478805
18 AK2 NM_001625.3(AK2): c.697A> T (p.Lys233Ter) single nucleotide variant Pathogenic rs267606646 GRCh38 Chromosome 1, 33013204: 33013204
19 AK2 NM_013411.4(AK2): c.25G> T (p.Glu9Ter) single nucleotide variant Pathogenic rs267606647 GRCh37 Chromosome 1, 33502405: 33502405
20 AK2 NM_013411.4(AK2): c.25G> T (p.Glu9Ter) single nucleotide variant Pathogenic rs267606647 GRCh38 Chromosome 1, 33036804: 33036804
21 AK2 NM_001625.3(AK2): c.625G> A (p.Ala209Thr) single nucleotide variant Benign/Likely benign rs12116440 GRCh37 Chromosome 1, 33478877: 33478877
22 AK2 NM_001625.3(AK2): c.625G> A (p.Ala209Thr) single nucleotide variant Benign/Likely benign rs12116440 GRCh38 Chromosome 1, 33013276: 33013276
23 AK2 NM_013411.4(AK2): c.523delC (p.Arg175Aspfs) deletion Pathogenic GRCh37 Chromosome 1, 33478979: 33478979
24 AK2 NM_013411.4(AK2): c.523delC (p.Arg175Aspfs) deletion Pathogenic GRCh38 Chromosome 1, 33013378: 33013378
25 AK2 NM_001625.3(AK2): c.255G> A (p.Lys85=) single nucleotide variant Benign rs41301072 GRCh37 Chromosome 1, 33487269: 33487269
26 AK2 NM_001625.3(AK2): c.255G> A (p.Lys85=) single nucleotide variant Benign rs41301072 GRCh38 Chromosome 1, 33021668: 33021668
27 AK2 NM_001625.3(AK2): c.277A> G (p.Lys93Glu) single nucleotide variant Uncertain significance rs767276648 GRCh37 Chromosome 1, 33487247: 33487247
28 AK2 NM_001625.3(AK2): c.277A> G (p.Lys93Glu) single nucleotide variant Uncertain significance rs767276648 GRCh38 Chromosome 1, 33021646: 33021646
29 AK2 NM_001625.3(AK2): c.49C> G (p.Arg17Gly) single nucleotide variant Likely benign rs138577419 GRCh38 Chromosome 1, 33036780: 33036780
30 AK2 NM_001625.3(AK2): c.49C> G (p.Arg17Gly) single nucleotide variant Likely benign rs138577419 GRCh37 Chromosome 1, 33502381: 33502381
31 AK2 NM_001625.3(AK2): c.386G> A (p.Ser129Asn) single nucleotide variant Benign rs61750965 GRCh37 Chromosome 1, 33487007: 33487007
32 AK2 NM_001625.3(AK2): c.386G> A (p.Ser129Asn) single nucleotide variant Benign rs61750965 GRCh38 Chromosome 1, 33021406: 33021406
33 AK2 NM_001625.3(AK2): c.504C> T (p.Thr168=) single nucleotide variant Likely benign rs61750964 GRCh38 Chromosome 1, 33013397: 33013397
34 AK2 NM_001625.3(AK2): c.504C> T (p.Thr168=) single nucleotide variant Likely benign rs61750964 GRCh37 Chromosome 1, 33478998: 33478998
35 AK2 NM_001625.3(AK2): c.571C> G (p.His191Asp) single nucleotide variant Benign rs80324279 GRCh38 Chromosome 1, 33013330: 33013330
36 AK2 NM_001625.3(AK2): c.571C> G (p.His191Asp) single nucleotide variant Benign rs80324279 GRCh37 Chromosome 1, 33478931: 33478931
37 AK2 NM_001625.3(AK2): c.220-5delT deletion Likely benign GRCh38 Chromosome 1, 33021708: 33021708
38 AK2 NM_001625.3(AK2): c.220-5delT deletion Likely benign GRCh37 Chromosome 1, 33487309: 33487309
39 AK2 NM_001625.3(AK2): c.630C> T (p.Ile210=) single nucleotide variant Likely benign rs746330303 GRCh38 Chromosome 1, 33013271: 33013271
40 AK2 NM_001625.3(AK2): c.630C> T (p.Ile210=) single nucleotide variant Likely benign rs746330303 GRCh37 Chromosome 1, 33478872: 33478872
41 AK2 NM_001625.3(AK2): c.603C> T (p.Tyr201=) single nucleotide variant Likely benign rs138151595 GRCh38 Chromosome 1, 33013298: 33013298
42 AK2 NM_001625.3(AK2): c.603C> T (p.Tyr201=) single nucleotide variant Likely benign rs138151595 GRCh37 Chromosome 1, 33478899: 33478899
43 AK2 NM_001625.3(AK2): c.199A> G (p.Thr67Ala) single nucleotide variant Uncertain significance rs771799826 GRCh38 Chromosome 1, 33024462: 33024462
44 AK2 NM_001625.3(AK2): c.199A> G (p.Thr67Ala) single nucleotide variant Uncertain significance rs771799826 GRCh37 Chromosome 1, 33490063: 33490063
45 AK2 NC_000001.11: g.(?_33024422)_(33024587_?)del deletion Uncertain significance GRCh37 Chromosome 1, 33490023: 33490188
46 AK2 NC_000001.11: g.(?_33024422)_(33024587_?)del deletion Uncertain significance GRCh38 Chromosome 1, 33024422: 33024587
47 AK2 NM_001625.3(AK2): c.631G> A (p.Asp211Asn) single nucleotide variant Uncertain significance rs143825456 GRCh37 Chromosome 1, 33478871: 33478871
48 AK2 NM_001625.3(AK2): c.631G> A (p.Asp211Asn) single nucleotide variant Uncertain significance rs143825456 GRCh38 Chromosome 1, 33013270: 33013270
49 AK2 NM_001625.3(AK2): c.457C> G (p.His153Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 33480164: 33480164
50 AK2 NM_001625.3(AK2): c.457C> G (p.His153Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 33014563: 33014563

Expression for Reticular Dysgenesis

Search GEO for disease gene expression data for Reticular Dysgenesis.

Pathways for Reticular Dysgenesis

Pathways related to Reticular Dysgenesis according to KEGG:

37
# Name Kegg Source Accession
1 Purine metabolism hsa00230

Pathways related to Reticular Dysgenesis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.19 ADA AK1 AK2 AK7
2
Show member pathways
12.17 AK1 AK2 AK7
3
Show member pathways
11.9 ADA AK1 AK2 AK7
4
Show member pathways
11.78 AK1 AK2 AK7
5
Show member pathways
11.37 ADA AK1 AK2 AK7
6 10.73 AK1 AK2 AK7
7 10 AK1 AK2 AK7

GO Terms for Reticular Dysgenesis

Cellular components related to Reticular Dysgenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sperm flagellum GO:0036126 8.62 AK1 AK2

Biological processes related to Reticular Dysgenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.63 AK1 AK2 AK7
2 ATP metabolic process GO:0046034 9.43 AK1 AK2
3 nucleoside diphosphate phosphorylation GO:0006165 9.4 AK1 AK7
4 nucleoside triphosphate biosynthetic process GO:0009142 9.37 AK1 AK7
5 nucleobase-containing compound metabolic process GO:0006139 9.33 AK1 AK2 AK7
6 ADP biosynthetic process GO:0006172 9.32 AK1 AK2
7 AMP metabolic process GO:0046033 9.26 AK1 AK2
8 nucleobase-containing small molecule interconversion GO:0015949 9.13 AK1 AK2 AK7
9 nucleoside monophosphate phosphorylation GO:0046940 8.8 AK1 AK2 AK7

Molecular functions related to Reticular Dysgenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.43 AK1 AK2 AK7
2 nucleoside diphosphate kinase activity GO:0004550 9.16 AK1 AK7
3 adenylate kinase activity GO:0004017 9.13 AK1 AK2 AK7
4 nucleobase-containing compound kinase activity GO:0019205 8.8 AK1 AK2 AK7

Sources for Reticular Dysgenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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