MCID: RSS025
MIFTS: 43

Ras-Associated Autoimmune Leukoproliferative Disorder

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

Aliases & Classifications for Ras-Associated Autoimmune Leukoproliferative Disorder

MalaCards integrated aliases for Ras-Associated Autoimmune Leukoproliferative Disorder:

Name: Ras-Associated Autoimmune Leukoproliferative Disorder 57 12 75 29 6 73
Rald 57 12 59 75
Alps4 57 12 75
Ras-Associated Autoimmune Leukoproliferative Disease 12 59
Autoimmune Lymphoproliferative Syndrome, Type Iv 57 75
Autoimmune Lymphoproliferative Syndrome Type Iv 12 13
Autoimmune Lymphoproliferative Syndrome Type 4 12 15
Ras-Associated Autoimmune Lymphoproliferative Syndrome Type Iv, Somatic 57
Ras-Associated Autoimmune Leukoproliferative Disorder ) 40
Autoimmune Lymphoproliferative Syndrome, Type Iv; Alps4 57
Autoimmune Lymphoproliferative Syndrome 4 75
Alps Type Iv 12
Alps Type 4 12

Characteristics:

Orphanet epidemiological data:

59
ras-associated autoimmune leukoproliferative disease
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood
caused by somatic mutations


HPO:

32
ras-associated autoimmune leukoproliferative disorder:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ras-Associated Autoimmune Leukoproliferative Disorder

OMIM : 57 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 nevus, epidermal. An important gene associated with Ras-Associated Autoimmune Leukoproliferative Disorder is NRAS (NRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are Signaling by GPCR and 4-1BB Pathway. Affiliated tissues include monocytes, t cells and b cells, and related phenotypes are splenomegaly and recurrent respiratory infections

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 RAS-associated autoimmune leukoproliferative disorder (RALD) is a rare genetic disorder of the immune... more...

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 10.3 KRAS NRAS
2 nevus, epidermal 10.2 KRAS NRAS
3 acneiform dermatitis 10.2 KRAS NRAS
4 core binding factor acute myeloid leukemia 10.1 KRAS NRAS
5 liver angiosarcoma 10.0 KRAS NRAS
6 small intestinal adenocarcinoma 9.7 ALDH1A1 KRAS
7 autoimmune lymphoproliferative syndrome 9.6 KRAS NRAS PRKCD

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:

57
AbdomenSpleen:
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:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 recurrent respiratory infections 32 occasional (7.5%) HP:0002205
3 hepatomegaly 32 HP:0002240
4 pancytopenia 32 HP:0001876
5 hemolytic anemia 32 HP:0001878
6 neutropenia 32 HP:0001875
7 lymphoma 32 HP:0002665
8 increased antibody level in blood 32 HP:0010702
9 autoimmune thrombocytopenia 32 HP:0001973
10 leukemia 32 HP:0001909
11 lymphoproliferative disorder 32 HP:0005523
12 follicular hyperplasia 32 HP:0002729
13 monocytosis 32 HP:0012311
14 decreased lymphocyte apoptosis 32 HP:0002731

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10 ALDH1A1 ALDH1A3 CYP26A1 KRAS NRAS PRKCD
2 craniofacial MP:0005382 9.91 ALDH1A1 ALDH1A3 CYP26A1 DHRS3 KRAS NRAS
3 growth/size/body region MP:0005378 9.87 PRKCD ALDH1A1 ALDH1A3 CYP26A1 DHRS3 KRAS
4 embryo MP:0005380 9.85 ALDH1A1 ALDH1A3 CYP26A1 DHRS3 KRAS NRAS
5 digestive/alimentary MP:0005381 9.8 ALDH1A3 CYP26A1 DHRS3 KRAS NRAS
6 mortality/aging MP:0010768 9.8 ALDH1A1 ALDH1A3 CYP26A1 DHRS3 KRAS NRAS
7 normal MP:0002873 9.55 ALDH1A1 ALDH1A3 CYP26A1 KRAS NRAS
8 skeleton MP:0005390 9.43 ALDH1A3 CYP26A1 DHRS3 KRAS NRAS PRKCD
9 vision/eye MP:0005391 9.1 DHRS3 KRAS NRAS RDH12 ALDH1A1 ALDH1A3

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 29 KRAS NRAS

Anatomical Context for Ras-Associated Autoimmune Leukoproliferative Disorder

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

41
Monocytes, 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:

75
# 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 rs112445441 GRCh37 Chromosome 12, 25398281: 25398281
2 KRAS NM_033360.3(KRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic rs112445441 GRCh38 Chromosome 12, 25245347: 25245347
3 KRAS NM_004985.4(KRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913529 GRCh37 Chromosome 12, 25398284: 25398284
4 KRAS NM_004985.4(KRAS): c.35G> A (p.Gly12Asp) single nucleotide variant Pathogenic rs121913529 GRCh38 Chromosome 12, 25245350: 25245350
5 NRAS NM_002524.4(NRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic rs121434596 GRCh37 Chromosome 1, 115258744: 115258744
6 NRAS NM_002524.4(NRAS): c.38G> A (p.Gly13Asp) single nucleotide variant Pathogenic rs121434596 GRCh38 Chromosome 1, 114716123: 114716123
7 KRAS NM_033360.3(KRAS): c.37G> T (p.Gly13Cys) single nucleotide variant Pathogenic rs121913535 GRCh37 Chromosome 12, 25398282: 25398282
8 KRAS NM_033360.3(KRAS): c.37G> T (p.Gly13Cys) single nucleotide variant Pathogenic rs121913535 GRCh38 Chromosome 12, 25245348: 25245348

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 45)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.62 ALDH1A1 ALDH1A3 CYP26A1 DHRS3 KRAS NRAS
2
Show member pathways
12.46 KRAS NRAS PRKCD
3
Show member pathways
12.34 KRAS NRAS PRKCD
4
Show member pathways
12.29 KRAS NRAS PRKCD
5
Show member pathways
12.26 KRAS NRAS PRKCD
6
Show member pathways
12.26 KRAS NRAS PRKCD
7
Show member pathways
12.25 KRAS NRAS PRKCD
8
Show member pathways
12.25 ALDH1A1 ALDH1A3 CYP26A1 DHRS3 RDH12
9
Show member pathways
12.24 KRAS NRAS PRKCD
10
Show member pathways
12.24 KRAS NRAS PRKCD
11
Show member pathways
12.22 KRAS NRAS PRKCD
12
Show member pathways
12.19 KRAS NRAS PRKCD
13
Show member pathways
12.15 KRAS NRAS PRKCD
14
Show member pathways
12.12 KRAS NRAS PRKCD
15
Show member pathways
12.11 KRAS NRAS PRKCD
16
Show member pathways
12.01 KRAS NRAS PRKCD
17
Show member pathways
11.99 KRAS NRAS PRKCD
18
Show member pathways
11.97 KRAS NRAS PRKCD
19
Show member pathways
11.95 KRAS NRAS PRKCD
20
Show member pathways
11.91 KRAS NRAS PRKCD
21
Show member pathways
11.88 KRAS NRAS PRKCD
22 11.76 KRAS NRAS PRKCD
23
Show member pathways
11.72 KRAS NRAS PRKCD
24 11.65 KRAS NRAS PRKCD
25 11.64 KRAS NRAS PRKCD
26 11.58 KRAS NRAS PRKCD
27 11.47 KRAS NRAS
28 11.44 KRAS NRAS
29
Show member pathways
11.43 DHRS3 RDH12
30 11.36 KRAS NRAS
31
Show member pathways
11.35 KRAS NRAS PRKCD
32 11.29 KRAS NRAS
33 11.18 KRAS NRAS
34 11.11 KRAS NRAS
35 11.11 KRAS NRAS
36
Show member pathways
11.09 KRAS NRAS
37
Show member pathways
11.08 ALDH1A1 ALDH1A3 CYP26A1 DHRS3
38
Show member pathways
11.02 KRAS NRAS
39 10.96 KRAS NRAS
40 10.96 KRAS NRAS PRKCD
41 10.93 KRAS NRAS
42 10.87 KRAS NRAS
43 10.66 ALDH1A1 ALDH1A3 CYP26A1 DHRS3 RDH12
44 10.62 KRAS NRAS
45
Show member pathways
10.61 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 9.55 ALDH1A1 ALDH1A3 CYP26A1 DHRS3 RDH12
2 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.5 KRAS NRAS PRKCD
3 epidermal growth factor receptor signaling pathway GO:0007173 9.43 KRAS NRAS
4 ERBB2 signaling pathway GO:0038128 9.4 KRAS NRAS
5 retinoic acid metabolic process GO:0042573 9.37 ALDH1A3 CYP26A1
6 negative regulation of retinoic acid receptor signaling pathway GO:0048387 9.26 CYP26A1 DHRS3
7 retinoid metabolic process GO:0001523 9.13 ALDH1A1 DHRS3 RDH12
8 retinol metabolic process GO:0042572 8.92 ALDH1A1 ALDH1A3 DHRS3 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, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor GO:0016620 9.4 ALDH1A1 ALDH1A3
2 retinol dehydrogenase activity GO:0004745 9.37 DHRS3 RDH12
3 aldehyde dehydrogenase (NAD) activity GO:0004029 9.32 ALDH1A1 ALDH1A3
4 NADP-retinol dehydrogenase activity GO:0052650 9.26 DHRS3 RDH12
5 3-chloroallyl aldehyde dehydrogenase activity GO:0004028 9.16 ALDH1A1 ALDH1A3
6 oxidoreductase activity GO:0016491 9.02 ALDH1A1 ALDH1A3 CYP26A1 DHRS3 RDH12
7 retinal dehydrogenase activity GO:0001758 8.96 ALDH1A1 ALDH1A3

Sources for Ras-Associated Autoimmune Leukoproliferative Disorder

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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