MCID: RSS025
MIFTS: 43

Ras-Associated Autoimmune Leukoproliferative Disorder

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

Aliases & Classifications for Ras-Associated Autoimmune Leukoproliferative Disorder

MalaCards integrated aliases for Ras-Associated Autoimmune Leukoproliferative Disorder:

Name: Ras-Associated Autoimmune Leukoproliferative Disorder 53 12 71 28 69
Rald 53 12 55 71
Alps4 53 12 71
Ras-Associated Autoimmune Leukoproliferative Disease 12 55
Autoimmune Lymphoproliferative Syndrome, Type Iv 53 71
Autoimmune Lymphoproliferative Syndrome Type Iv 12 13
Autoimmune Lymphoproliferative Syndrome Type 4 12 14
Ras-Associated Autoimmune Lymphoproliferative Syndrome Type Iv, Somatic 53
Autoimmune Lymphoproliferative Syndrome, Type Iv; Alps4 53
Autoimmune Lymphoproliferative Syndrome 4 71
Alps Type Iv 12
Alps Type 4 12

Characteristics:

Orphanet epidemiological data:

55
ras-associated autoimmune leukoproliferative disease
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood
caused by somatic mutations


HPO:

31
ras-associated autoimmune leukoproliferative disorder:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ras-Associated Autoimmune Leukoproliferative Disorder

OMIM : 53 RAS-associated leukoproliferative disorder is characterized by lymphadenopathy, splenomegaly, and variable autoimmune phenomena, including autoimmune hemolytic anemia, idiopathic thrombocytopenic purpura, and neutropenia. Laboratory studies show an expansion of lymphocytes due to defective apoptosis, as well as significant autoantibodies. Some patients have recurrent infections, and there may be an increased risk of hematologic malignancy (summary by Oliveira, 2013 and Niemela et al., 2010). The disorder shows significant overlap with autoimmune lymphoproliferative syndrome (ALPS; 601859) and was originally designated ALPS IV. (614470)

MalaCards based summary : Ras-Associated Autoimmune Leukoproliferative Disorder, also known as rald, is related to schimmelpenning-feuerstein-mims syndrome and alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity, and has symptoms including splenomegaly, recurrent respiratory infections and hepatomegaly. An important gene associated with Ras-Associated Autoimmune Leukoproliferative Disorder is KRAS (KRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are Signaling by GPCR and NFAT and Cardiac Hypertrophy. Affiliated tissues include t cells and b cells, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

UniProtKB/Swiss-Prot : 71 RAS-associated autoimmune leukoproliferative disorder: A disorder of apoptosis, characterized by chronic accumulation of non- malignant lymphocytes, defective lymphocyte apoptosis, and an increased risk for the development of hematologic malignancies.

Related Diseases for Ras-Associated Autoimmune Leukoproliferative Disorder

Diseases related to Ras-Associated Autoimmune Leukoproliferative Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 schimmelpenning-feuerstein-mims syndrome 10.2 KRAS NRAS
2 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
3 nevus, epidermal 10.1 KRAS NRAS
4 acneiform dermatitis 10.1 KRAS NRAS
5 core binding factor acute myeloid leukemia 10.1 KRAS NRAS
6 liver angiosarcoma 10.0 KRAS NRAS
7 autoimmune lymphoproliferative syndrome 9.8 KRAS NRAS PRKCD
8 small intestinal adenocarcinoma 9.8 ALDH1A1 KRAS

Graphical network of the top 20 diseases related to Ras-Associated Autoimmune Leukoproliferative Disorder:



Diseases related to Ras-Associated Autoimmune Leukoproliferative Disorder

Symptoms & Phenotypes for Ras-Associated Autoimmune Leukoproliferative Disorder

Symptoms via clinical synopsis from OMIM:

53
Abdomen Spleen:
splenomegaly

Hematology:
pancytopenia
hemolytic anemia
autoimmune thrombocytopenia

Respiratory:
recurrent respiratory infections (in some patients)

Abdomen Liver:
hepatomegaly

Immunology:
neutropenia
lymphadenopathy
recurrent infections (in some patients)
autoimmune disorders
hypergammaglobulinemia
more
Neoplasia:
increased risk of hematologic malignancy (1 patient)


Clinical features from OMIM:

614470

Human phenotypes related to Ras-Associated Autoimmune Leukoproliferative Disorder:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 recurrent respiratory infections 31 occasional (7.5%) HP:0002205
3 hepatomegaly 31 HP:0002240
4 pancytopenia 31 HP:0001876
5 hemolytic anemia 31 HP:0001878
6 neutropenia 31 HP:0001875
7 lymphoma 31 HP:0002665
8 increased antibody level in blood 31 HP:0010702
9 autoimmune thrombocytopenia 31 HP:0001973
10 leukemia 31 HP:0001909
11 lymphoproliferative disorder 31 HP:0005523
12 follicular hyperplasia 31 HP:0002729
13 monocytosis 31 HP:0012311
14 decreased lymphocyte apoptosis 31 HP:0002731

GenomeRNAi Phenotypes related to Ras-Associated Autoimmune Leukoproliferative Disorder according to GeneCards Suite gene sharing:

25 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.55 KRAS
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.55 ALDH1A1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.55 KRAS
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.55 ALDH1A1 FLNB KRAS
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.55 FLNB
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.55 KRAS
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.55 KRAS
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.55 KRAS
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.55 KRAS
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.55 KRAS
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.55 KRAS
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.55 ALDH1A1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.55 ALDH1A1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.55 ALDH1A1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.55 ALDH1A1

MGI Mouse Phenotypes related to Ras-Associated Autoimmune Leukoproliferative Disorder:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.03 ALDH1A1 ALDH1A3 CYP26A1 FLNB KRAS NRAS
2 craniofacial MP:0005382 9.88 ALDH1A1 ALDH1A3 CYP26A1 FLNB KRAS NRAS
3 growth/size/body region MP:0005378 9.87 ALDH1A1 ALDH1A3 CYP26A1 FLNB KRAS NRAS
4 mortality/aging MP:0010768 9.8 ALDH1A1 ALDH1A3 CYP26A1 FLNB KRAS NRAS
5 embryo MP:0005380 9.77 ALDH1A1 ALDH1A3 CYP26A1 KRAS NRAS
6 normal MP:0002873 9.55 ALDH1A3 CYP26A1 KRAS NRAS ALDH1A1
7 skeleton MP:0005390 9.43 FLNB KRAS NRAS PRKCD ALDH1A3 CYP26A1
8 vision/eye MP:0005391 9.02 ALDH1A1 ALDH1A3 KRAS NRAS RDH12

Drugs & Therapeutics for Ras-Associated Autoimmune Leukoproliferative Disorder

Search Clinical Trials , NIH Clinical Center for Ras-Associated Autoimmune Leukoproliferative Disorder

Genetic Tests for Ras-Associated Autoimmune Leukoproliferative Disorder

Genetic tests related to Ras-Associated Autoimmune Leukoproliferative Disorder:

# Genetic test Affiliating Genes
1 Ras-Associated Autoimmune Leukoproliferative Disorder 28 KRAS NRAS

Anatomical Context for Ras-Associated Autoimmune Leukoproliferative Disorder

MalaCards organs/tissues related to Ras-Associated Autoimmune Leukoproliferative Disorder:

38
T Cells, B Cells

Publications for Ras-Associated Autoimmune Leukoproliferative Disorder

Articles related to Ras-Associated Autoimmune Leukoproliferative Disorder:

# Title Authors Year
1
JMML and RALD (Ras-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entities. ( 25691160 )
2015

Variations for Ras-Associated Autoimmune Leukoproliferative Disorder

UniProtKB/Swiss-Prot genetic disease variations for Ras-Associated Autoimmune Leukoproliferative Disorder:

71
# Symbol AA change Variation ID SNP ID
1 NRAS p.Gly13Asp VAR_063084 rs121434596

ClinVar genetic disease variations for Ras-Associated Autoimmune Leukoproliferative Disorder:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KRAS NM_033360.3(KRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic/Likely pathogenic rs112445441 GRCh37 Chromosome 12, 25398281: 25398281
2 KRAS NM_004985.4(KRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121913529 GRCh37 Chromosome 12, 25398284: 25398284
3 NRAS NM_002524.4(NRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121434596 GRCh37 Chromosome 1, 115258744: 115258744
4 KRAS NM_033360.3(KRAS): c.37G> T (p.Gly13Cys) single nucleotide variant Pathogenic rs121913535 GRCh37 Chromosome 12, 25398282: 25398282

Expression for Ras-Associated Autoimmune Leukoproliferative Disorder

Search GEO for disease gene expression data for Ras-Associated Autoimmune Leukoproliferative Disorder.

Pathways for Ras-Associated Autoimmune Leukoproliferative Disorder

Pathways related to Ras-Associated Autoimmune Leukoproliferative Disorder according to GeneCards Suite gene sharing:

(show all 48)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 ALDH1A1 ALDH1A3 CYP26A1 KRAS NRAS PRKCD
2
Show member pathways
12.6 KRAS NRAS PRKCD
3
Show member pathways
12.48 KRAS NRAS PRKCD
4
Show member pathways
12.48 ALDH1A1 ALDH1A3 CYP26A1 RDH12
5 12.44 FLNB KRAS NRAS PRKCD
6
Show member pathways
12.39 KRAS NRAS PRKCD
7
Show member pathways
12.32 KRAS NRAS PRKCD
8
Show member pathways
12.31 KRAS NRAS PRKCD
9
Show member pathways
12.27 KRAS NRAS PRKCD
10
Show member pathways
12.27 KRAS NRAS PRKCD
11
Show member pathways
12.26 KRAS NRAS PRKCD
12
Show member pathways
12.25 KRAS NRAS PRKCD
13
Show member pathways
12.21 KRAS NRAS PRKCD
14
Show member pathways
12.18 KRAS NRAS PRKCD
15
Show member pathways
12.17 KRAS NRAS PRKCD
16
Show member pathways
12.14 KRAS NRAS PRKCD
17
Show member pathways
12.14 KRAS NRAS PRKCD
18
Show member pathways
12.12 KRAS NRAS PRKCD
19
Show member pathways
12.11 KRAS NRAS PRKCD
20 12.09 FLNB KRAS NRAS
21
Show member pathways
12.08 KRAS NRAS PRKCD
22
Show member pathways
11.99 KRAS NRAS PRKCD
23
Show member pathways
11.94 KRAS NRAS PRKCD
24
Show member pathways
11.89 KRAS NRAS PRKCD
25
Show member pathways
11.79 KRAS NRAS PRKCD
26 11.74 KRAS NRAS PRKCD
27
Show member pathways
11.63 KRAS NRAS PRKCD
28 11.59 KRAS NRAS PRKCD
29 11.54 KRAS NRAS PRKCD
30 11.48 KRAS NRAS
31 11.45 KRAS NRAS
32 11.43 KRAS NRAS PRKCD
33 11.37 KRAS NRAS
34 11.3 KRAS NRAS
35
Show member pathways
11.25 KRAS NRAS PRKCD
36 11.23 KRAS NRAS PRKCD
37 11.19 KRAS NRAS
38 11.11 KRAS NRAS
39 11.11 KRAS NRAS
40
Show member pathways
11.09 KRAS NRAS
41
Show member pathways
11.01 KRAS NRAS
42 10.95 KRAS NRAS
43
Show member pathways
10.95 ALDH1A1 ALDH1A3 CYP26A1
44 10.92 KRAS NRAS
45 10.86 KRAS NRAS
46 10.57 ALDH1A1 ALDH1A3 CYP26A1 RDH12
47 10.55 KRAS NRAS
48
Show member pathways
10.52 ALDH1A1 ALDH1A3

GO Terms for Ras-Associated Autoimmune Leukoproliferative Disorder

Biological processes related to Ras-Associated Autoimmune Leukoproliferative Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.56 ALDH1A1 ALDH1A3 CYP26A1 RDH12
2 retinoid metabolic process GO:0001523 9.4 ALDH1A1 RDH12
3 epidermal growth factor receptor signaling pathway GO:0007173 9.37 KRAS NRAS
4 ERBB2 signaling pathway GO:0038128 9.32 KRAS NRAS
5 retinoic acid metabolic process GO:0042573 9.16 ALDH1A3 CYP26A1
6 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.13 KRAS NRAS PRKCD
7 retinol metabolic process GO:0042572 8.8 ALDH1A1 ALDH1A3 RDH12

Molecular functions related to Ras-Associated Autoimmune Leukoproliferative Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.46 ALDH1A1 ALDH1A3 CYP26A1 RDH12
2 aldehyde dehydrogenase (NAD) activity GO:0004029 8.96 ALDH1A1 ALDH1A3
3 retinal dehydrogenase activity GO:0001758 8.62 ALDH1A1 ALDH1A3

Sources for Ras-Associated Autoimmune Leukoproliferative Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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