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RALD
MCID: RSS025
MIFTS: 52

Ras-Associated Autoimmune Leukoproliferative Disorder (RALD)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Ras-Associated Autoimmune Leukoproliferative Disorder

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MalaCards integrated aliases for Ras-Associated Autoimmune Leukoproliferative Disorder:

Name: Ras-Associated Autoimmune Leukoproliferative Disorder 56 12 73 29 6 39 71
Rald 56 12 58 73
Alps4 56 12 73
Ras-Associated Autoimmune Leukoproliferative Disease 12 58
Autoimmune Lymphoproliferative Syndrome, Type Iv 56 73
Autoimmune Lymphoproliferative Syndrome Type Iv 12 13
Autoimmune Lymphoproliferative Syndrome Type 4 12 15
Ras-Associated Autoimmune Lymphoproliferative Syndrome Type Iv, Somatic 56
Autoimmune Lymphoproliferative Syndrome, Type Iv; Alps4 56
Autoimmune Lymphoproliferative Syndrome 4 73
Alps Type Iv 12
Alps Type 4 12

Characteristics:

Orphanet epidemiological data:

58
ras-associated autoimmune leukoproliferative disease
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood
caused by somatic mutations


HPO:

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


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare haematological diseases
Rare immunological diseases


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Summaries for Ras-Associated Autoimmune Leukoproliferative Disorder

About this section
OMIM : 56 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 lymphoproliferative syndrome and autoimmune lymphoproliferative syndrome. 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 Drug metabolism - cytochrome P450. Affiliated tissues include monocytes, t cells and b cells, and related phenotypes are recurrent respiratory infections and splenomegaly

UniProtKB/Swiss-Prot : 73 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 : 74 RAS-associated autoimmune leukoproliferative disorder (RALD) is a rare genetic disorder of the immune... more...

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Related Diseases for Ras-Associated Autoimmune Leukoproliferative Disorder

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

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 lymphoproliferative syndrome 30.3 NRAS KRAS HRAS CASP10
2 autoimmune lymphoproliferative syndrome 30.3 NRAS KRAS HRAS CASP10
3 pyogenic granuloma 10.4 NRAS KRAS
4 signet ring basal cell carcinoma 10.4 KRAS HRAS
5 trachea carcinoma in situ 10.4 KRAS HRAS
6 cobblestone retinal degeneration 10.4 KRAS HRAS
7 nasal cavity adenocarcinoma 10.4 KRAS HRAS
8 malignant anus melanoma 10.4 NRAS HRAS
9 malignant dermis tumor 10.4 NRAS HRAS
10 ampulla of vater neoplasm 10.4 KRAS HRAS
11 malignant skin fibrous histiocytoma 10.4 NRAS HRAS
12 descending colon cancer 10.4 KRAS HRAS
13 periampullary adenoma 10.4 KRAS HRAS
14 adenosquamous lung carcinoma 10.4 KRAS HRAS
15 vulvar melanoma 10.4 NRAS HRAS
16 transverse colon cancer 10.4 KRAS HRAS
17 appendiceal neoplasm 10.4 KRAS HRAS
18 gallbladder benign neoplasm 10.4 KRAS HRAS
19 central nervous system melanocytic neoplasm 10.4 NRAS HRAS
20 myh-associated polyposis 10.4 KRAS HRAS
21 appendix adenocarcinoma 10.3 KRAS HRAS
22 mucinous lung adenocarcinoma 10.3 KRAS HRAS
23 wolffian duct adenocarcinoma 10.3 KRAS HRAS
24 ascending colon cancer 10.3 KRAS HRAS
25 biliary tract benign neoplasm 10.3 KRAS HRAS
26 acneiform dermatitis 10.3 NRAS KRAS HRAS
27 tumor of exocrine pancreas 10.3 KRAS HRAS
28 core binding factor acute myeloid leukemia 10.3 NRAS KRAS HRAS
29 large intestine adenocarcinoma 10.3 NRAS KRAS HRAS
30 oculoectodermal syndrome 10.3 NRAS KRAS HRAS
31 rasopathy 10.3 NRAS KRAS HRAS
32 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
33 schimmelpenning-feuerstein-mims syndrome 10.3 NRAS KRAS HRAS
34 thyroid tumor 10.3 NRAS KRAS HRAS
35 pancreatic acinar cell adenocarcinoma 10.3 KRAS HRAS
36 lung adenoma 10.3 KRAS HRAS ALDH1A1
37 juvenile myelomonocytic leukemia 10.3
38 chronic myelomonocytic leukemia 10.3
39 hemopericardium 10.3
40 pericardial effusion 10.3
41 thrombocytopenia 10.3
42 interstitial lung disease 10.3
43 lung disease 10.3
44 splenomegaly 10.3
45 nevus, epidermal 10.3 NRAS KRAS HRAS
46 differentiated thyroid carcinoma 10.3 NRAS KRAS HRAS
47 autoimmune disease 10.3
48 hemolytic anemia 10.3
49 cardiofaciocutaneous syndrome 1 10.3 NRAS KRAS HRAS
50 endosalpingiosis 10.3 KRAS HRAS

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



Diseases related to Ras-Associated Autoimmune Leukoproliferative Disorder
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Symptoms & Phenotypes for Ras-Associated Autoimmune Leukoproliferative Disorder

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Human phenotypes related to Ras-Associated Autoimmune Leukoproliferative Disorder:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 occasional (7.5%) HP:0002205
2 splenomegaly 31 HP:0001744
3 hepatomegaly 31 HP:0002240
4 hemolytic anemia 31 HP:0001878
5 leukemia 31 HP:0001909
6 lymphoma 31 HP:0002665
7 neutropenia 31 HP:0001875
8 pancytopenia 31 HP:0001876
9 lymphoproliferative disorder 31 HP:0005523
10 follicular hyperplasia 31 HP:0002729
11 autoimmune thrombocytopenia 31 HP:0001973
12 lymphocytosis 31 HP:0100827
13 monocytosis 31 HP:0012311
14 increased circulating antibody level 31 HP:0010702
15 decreased lymphocyte apoptosis 31 HP:0002731

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Hematology:
hemolytic anemia
pancytopenia
autoimmune thrombocytopenia

Respiratory:
recurrent respiratory infections (in some patients)

Abdomen Liver:
hepatomegaly

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

Clinical features from OMIM:

614470

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

26 (show all 40)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.27 KRAS
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 10.27 KRAS
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.27 KRAS
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-159 10.27 RARS1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.27 KRAS
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 10.27 KRAS
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.27 RARS1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.27 KRAS
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-183 10.27 HRAS
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 10.27 KRAS
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-196 10.27 KRAS
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 10.27 RARS1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.27 KRAS
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-23 10.27 KRAS
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 10.27 KRAS
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 10.27 KRAS
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 10.27 HRAS
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 10.27 KRAS ZNF423
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 10.27 KRAS
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.27 KRAS
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 10.27 KRAS
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.27 HRAS
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.27 RARS1
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-93 10.27 KRAS
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 10.27 HRAS
26 Decreased viability GR00055-A-1 10.15 HRAS KRAS
27 Decreased viability GR00055-A-2 10.15 HRAS KRAS
28 Decreased viability GR00055-A-3 10.15 KRAS
29 Decreased viability GR00106-A-0 10.15 KRAS
30 Decreased viability GR00221-A-1 10.15 HRAS KRAS NRAS
31 Decreased viability GR00221-A-2 10.15 HRAS KRAS
32 Decreased viability GR00221-A-3 10.15 HRAS NRAS
33 Decreased viability GR00249-S 10.15 ALDH1A3 CASP10 RBP4 STRA6
34 Decreased viability GR00301-A 10.15 KRAS
35 Decreased viability GR00381-A-1 10.15 KRAS RBP4 STRA6
36 Decreased viability GR00381-A-2 10.15 RBP4
37 Decreased viability GR00381-A-3 10.15 RBP4
38 Decreased viability GR00386-A-1 10.15 ALDH1A1 RALA UCP1 ZNF423
39 Decreased viability GR00402-S-2 10.15 ALDH1A3 CAVIN2 RARS1 UCP1
40 Increased the percentage of infected cells GR00402-S-1 8.62 ALDH1A1 ALDH3B2

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

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.34 ALDH1A1 ALDH1A2 ALDH1A3 CYP26A1 HRAS KRAS
2 cellular MP:0005384 10.3 ALDH1A1 ALDH1A2 ALDH1A3 CAVIN2 CYP26A1 KRAS
3 cardiovascular system MP:0005385 10.27 ALDH1A2 CAVIN2 CYP26A1 HRAS KRAS NRAS
4 craniofacial MP:0005382 10.25 ALDH1A1 ALDH1A2 ALDH1A3 CYP26A1 HRAS KRAS
5 embryo MP:0005380 10.22 ALDH1A1 ALDH1A2 ALDH1A3 CYP26A1 KRAS NRAS
6 mortality/aging MP:0010768 10.22 ALDH1A1 ALDH1A2 ALDH1A3 CRABP2 CYP26A1 HRAS
7 endocrine/exocrine gland MP:0005379 10.21 ALDH1A1 ALDH1A2 ALDH1A3 HRAS KRAS NRAS
8 normal MP:0002873 10.11 ALDH1A1 ALDH1A2 ALDH1A3 CYP26A1 HRAS KRAS
9 digestive/alimentary MP:0005381 10.08 ALDH1A3 CYP26A1 HRAS KRAS NRAS RBP4
10 limbs/digits/tail MP:0005371 10.06 ALDH1A2 CRABP2 CYP26A1 KRAS NRAS RALA
11 liver/biliary system MP:0005370 9.98 ALDH1A1 KRAS NRAS RALA RBP1 RDH10
12 hearing/vestibular/ear MP:0005377 9.95 ALDH1A2 CRABP2 KRAS RALA RBP1 RDH10
13 renal/urinary system MP:0005367 9.91 ALDH1A2 ALDH1A3 CYP26A1 HRAS KRAS RALA
14 respiratory system MP:0005388 9.76 ALDH1A1 ALDH1A2 ALDH1A3 CAVIN2 HRAS KRAS
15 pigmentation MP:0001186 9.72 KRAS NRAS RBP1 RBP4 STRA6
16 skeleton MP:0005390 9.65 ALDH1A2 ALDH1A3 CYP26A1 HRAS KRAS NRAS
17 vision/eye MP:0005391 9.36 ALDH1A1 ALDH1A2 ALDH1A3 KRAS NRAS RALA
Sources

Drugs & Therapeutics for Ras-Associated Autoimmune Leukoproliferative Disorder

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of the Immunopathogenesis, Natural History, and Genetics of Autoimmune Lymphoproliferative Syndrome (ALPS) Associated With an Expansion of CD4-8-/TCR Alpha/Beta+ T Cells Recruiting NCT00001350

Search NIH Clinical Center for Ras-Associated Autoimmune Leukoproliferative Disorder

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Genetic Tests for Ras-Associated Autoimmune Leukoproliferative Disorder

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Genetic tests related to Ras-Associated Autoimmune Leukoproliferative Disorder:

# Genetic test Affiliating Genes
1 Ras-Associated Autoimmune Leukoproliferative Disorder 29 KRAS NRAS
Sources

Anatomical Context for Ras-Associated Autoimmune Leukoproliferative Disorder

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

40
Monocytes, T Cells, B Cells, Bone, Liver, Heart, Colon
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Publications for Ras-Associated Autoimmune Leukoproliferative Disorder

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Articles related to Ras-Associated Autoimmune Leukoproliferative Disorder:

(show top 50) (show all 53)
# Title Authors PMID Year
1
Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation. 61 6 56
21063026 2011
2
Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis. 56 6
21079152 2011
3
NRAS mutation causes a human autoimmune lymphoproliferative syndrome. 56 6
17517660 2007
4
Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations. 6
25808193 2015
5
The expanding spectrum of the autoimmune lymphoproliferative syndromes. 56
24240292 2013
6
Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. 6
22683711 2012
7
Keratinocytic epidermal nevi are associated with mosaic RAS mutations. 6
22499344 2012
8
Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma. 6
20805368 2010
9
Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation. 6
20949522 2010
10
Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia. 6
19775298 2009
11
Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. 6
17332249 2007
12
Clinicopathologic significance of the K-ras gene codon 12 point mutation in stomach cancer. An analysis of 140 cases. 6
7773929 1995
13
Detection of point mutations in the Kirsten-ras oncogene provides evidence for the multicentricity of pancreatic carcinoma. 6
8439212 1993
14
N-ras gene point mutations in childhood acute lymphocytic leukemia correlate with a poor prognosis. 6
2407301 1990
15
The human c-Kirsten ras gene is activated by a novel mutation in codon 13 in the breast carcinoma cell line MDA-MB231. 6
3627975 1987
16
Amino-acid substitutions at codon 13 of the N-ras oncogene in human acute myeloid leukaemia. 6
2989702 1985
17
Risk factors for recurrent autoimmune liver diseases after liver transplantation: A meta-analysis. 61
32443344 2020
18
Relative Average Look Duration and its Association with Neurophysiological Activity in Young Children with Autism Spectrum Disorder. 61
32024855 2020
19
Alcohol Use Behaviors and Reasons to Abstain From or Limit Drinking Among Medically Vulnerable Youth. 61
31985512 2020
20
Superficial and Deep Cutaneous Involvement by RAS-Associated Autoimmunne Leukoproliferative Disease (RALD Cutis): A Histologic Mimicker of Histiocytoid Sweet Syndrome. 61
31335417 2019
21
RAS-associated Autoimmune Leukoproliferative disease (RALD) manifested with early-onset SLE-like syndrome: a case series of RALD in Chinese children. 61
31412876 2019
22
A full-width half-maximum method to assess retinal vascular structural changes in patients with ischemic heart disease and microvascular anginga. 61
31358869 2019
23
Cutaneous involvement in an 8-year-old boy with Ras-associated autoimmune leucoproliferative disorder (RALD). 61
29908030 2018
24
Weekly Rituximab Followed by Monthly Rituximab Treatment for Autoimmune Disease Associated With RAS-associated Autoimmune Leukoproliferative Disease. 61
30080751 2018
25
Status of KRAS in iPSCs Impacts upon Self-Renewal and Differentiation Propensity. 61
29983389 2018
26
[Ras-associated autoimmune leukoproliferative disorder: a report of 2 cases and literature review]. 61
29141318 2017
27
T and B cell clonal expansion in Ras-associated lymphoproliferative disease (RALD) as revealed by next-generation sequencing. 61
28500641 2017
28
The importance of considering monogenic causes of autoimmunity: A somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus. 61
28043923 2017
29
Reprogramming of the retinoic acid pathway in decidualizing human endometrial stromal cells. 61
28253328 2017
30
Trajectories and correlates of reasons for abstaining or limiting drinking during adolescence. 61
26320735 2016
31
Somatic mosaicism for a NRAS mutation associates with disparate clinical features in RAS-associated leukoproliferative disease: a report of two cases. 61
25896945 2015
32
JMML and RALD (Ras-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entities. 61
25691160 2015
33
Retinaldehyde dehydrogenase 1 deficiency inhibits PPARγ-mediated bone loss and marrow adiposity. 61
25064526 2014
34
Update on retinal vessel structure measurement with spectral-domain optical coherence tomography. 61
24976361 2014
35
Rapid atomic layer deposition of silica nanolaminates: synergistic catalysis of Lewis/Brønsted acid sites and interfacial interactions. 61
24126605 2013
36
Moderate vitamin A supplementation in obese mice regulates tissue factor and cytokine production in a sex-specific manner. 61
23850584 2013
37
Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans. 61
23430113 2013
38
Autocrine function of aldehyde dehydrogenase 1 as a determinant of diet- and sex-specific differences in visceral adiposity. 61
22933113 2013
39
Deficiency of retinaldehyde dehydrogenase 1 induces BMP2 and increases bone mass in vivo. 61
23951127 2013
40
Monogenic defects in lymphocyte apoptosis. 61
22918222 2012
41
Retinaldehyde dehydrogenase 1 regulates a thermogenic program in white adipose tissue. 61
22561685 2012
42
Effect of catalyst layer density and growth temperature in rapid atomic layer deposition of silica using tris(tert-pentoxy)silanol. 61
21517074 2011
43
Ralfuranone biosynthesis in Ralstonia solanacearum suggests functional divergence in the quinone synthetase family of enzymes. 61
21439480 2011
44
Laparoscopic live donor nephrectomy: Are ten cases per year enough to reach the quality standards? A report from a single small-volume transplant center. 61
19633883 2010
45
Screening anti-inflammatory components from Chinese traditional medicines using a peritoneal macrophage/cell membrane chromatography-offline-GC/MS method. 61
19664972 2009
46
[The effects of different occluder selection on cardiac remodeling post transcatheter closure in patients with secundum atrial septal defect]. 61
20128373 2009
47
Reasons for abstaining or limiting drinking: a developmental perspective. 61
19769427 2009
48
Retinoid metabolism and nuclear receptor responses: New insights into coordinated regulation of the PPAR-RXR complex. 61
18068127 2008
49
Complete robotic-assistance during laparoscopic living donor nephrectomies: an evaluation of 38 procedures at a single site. 61
17956521 2007
50
Retinaldehyde represses adipogenesis and diet-induced obesity. 61
17529981 2007
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Variations for Ras-Associated Autoimmune Leukoproliferative Disorder

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KRAS NM_033360.4(KRAS):c.38G>A (p.Gly13Asp)SNV Pathogenic 12580 rs112445441 12:25398281-25398281 12:25245347-25245347
2 KRAS NM_033360.4(KRAS):c.35G>A (p.Gly12Asp)SNV Pathogenic 12582 rs121913529 12:25398284-25398284 12:25245350-25245350
3 KRAS NM_033360.4(KRAS):c.*12A>TSNV Pathogenic 12587 rs104894360 12:25362838-25362838 12:25209904-25209904
4 NRAS NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)SNV Pathogenic 13901 rs121434596 1:115258744-115258744 1:114716123-114716123
5 KRAS NM_033360.4(KRAS):c.37G>T (p.Gly13Cys)SNV Pathogenic 45123 rs121913535 12:25398282-25398282 12:25245348-25245348
6 KRAS NM_033360.4(KRAS):c.101C>G (p.Pro34Arg)SNV Pathogenic/Likely pathogenic 12590 rs104894366 12:25398218-25398218 12:25245284-25245284
7 KRAS NM_033360.4(KRAS):c.355G>A (p.Asp119Asn)SNV Likely pathogenic 40460 rs730880471 12:25378643-25378643 12:25225709-25225709
8 KRAS NM_033360.4(KRAS):c.112-5C>TSNV Conflicting interpretations of pathogenicity 626130 rs376520586 12:25380351-25380351 12:25227417-25227417

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

73
# Symbol AA change Variation ID SNP ID
1 NRAS p.Gly13Asp VAR_063084 rs121434596

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Expression for Ras-Associated Autoimmune Leukoproliferative Disorder

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

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

(show all 43)
# Super pathways Score Top Affiliating Genes
1
Signaling by GPCR 65
Show member pathways
 13.97 STRA6 RDH16 RDH10 RBP4 RBP1 RALA
2
Drug metabolism - cytochrome P450 36
Show member pathways
 12.71 RDH16 RDH10 CYP26A1 ALDH3B2 ALDH1A3 ALDH1A2
3
VEGF Signaling 66
Show member pathways
 12.45 NRAS KRAS HRAS CASP10
4
Apoptosis Pathway 70
Show member pathways
 12.39 NRAS KRAS HRAS CASP10
5
Phospholipase D signaling pathway 36
Show member pathways
 12.35 RALA NRAS KRAS HRAS
6
Development FGFR signaling pathway 22
Show member pathways
 12.34 RALA NRAS KRAS HRAS
7
Metabolism of fat-soluble vitamins 65
Show member pathways
 12.22 STRA6 RDH16 RDH10 RBP4 RBP1
8
Jak Stat Signaling Pathway 66
Show member pathways
 12.05 NRAS KRAS HRAS
9
Apelin signaling pathway 36
12.03 UCP1 NRAS KRAS HRAS
10
Ceramide Pathway 63
Show member pathways
 11.97 NRAS KRAS HRAS CASP10
11
MAP Kinase Signaling 4
11.92 NRAS KRAS HRAS
12
Glioblastoma Multiforme 63
11.91 NRAS KRAS HRAS
13
Long-term potentiation 36
Show member pathways
 11.9 NRAS KRAS HRAS
14
Signaling by ERBB4 65
Show member pathways
 11.89 NRAS KRAS HRAS
15
AGE-RAGE signaling pathway in diabetic complications 36
11.85 NRAS KRAS HRAS
16
Signaling by Ligand-Responsive EGFR Variants in Cancer 65
Show member pathways
 11.81 NRAS KRAS HRAS
17
FGFR1 mutant receptor activation 65
Show member pathways
 11.8 NRAS KRAS HRAS
18
Gap junction 36
11.78 NRAS KRAS HRAS
19
VEGF Pathway (Tocris) 60
Show member pathways
 11.7 NRAS KRAS HRAS CASP10
20
Bladder cancer 36 1
11.69 NRAS KRAS HRAS
21
Central carbon metabolism in cancer 36
11.67 NRAS KRAS HRAS
22
Mitophagy - animal 36
11.65 NRAS KRAS HRAS
23
Negative regulation of MAPK pathway 65
Show member pathways
 11.63 NRAS KRAS HRAS
24
GnRH secretion 36
11.62 NRAS KRAS HRAS
25
Long-term depression 36
11.58 NRAS KRAS HRAS
26
Agrin Interactions at Neuromuscular Junction 63
11.55 NRAS KRAS HRAS
27
Signaling by Retinoic Acid 65
Show member pathways
 11.52 RDH16 RDH10 CYP26A1 CRABP2 ALDH1A3 ALDH1A2
28
Aryl Hydrocarbon Receptor 1
11.47 NRAS KRAS HRAS
29
the visual cycle I (vertebrates) 1
Show member pathways
 11.46 STRA6 RDH16 RDH10 RBP4 RBP1
30
Vemurafenib Pathway, Pharmacodynamics 60
11.41 NRAS KRAS HRAS
31
Crizotinib Pathway, Pharmacokinetics/Pharmacodynamics 60
11.35 NRAS KRAS HRAS
32
BDNF-TrkB Signaling 1
11.28 NRAS KRAS HRAS
33
PI3K-AKT-mTOR signaling pathway and therapeutic opportunities 1
11.22 NRAS KRAS HRAS
34
Extracellular vesicle-mediated signaling in recipient cells 1
11.21 NRAS KRAS HRAS
35
EGFR Transactivation by Gastrin 65
Show member pathways
 11.14 NRAS KRAS HRAS
36
Bisphosphonate Pathway, Pharmacodynamics 60
Show member pathways
 11.13 RALA NRAS KRAS HRAS
37
MNAR-PELP1 and Estrogen Receptor Interaction 63
11.07 NRAS KRAS HRAS
38
CD209 (DC-SIGN) signaling 65
11.04 NRAS KRAS HRAS
39
Serotonin Receptor 2 and ELK-SRF/GATA4 signaling 1
10.99 NRAS KRAS HRAS
40
Retinoid cycle disease events 65
Show member pathways
 10.91 STRA6 RBP4 RBP1
41
Vitamin A and Carotenoid Metabolism 1
10.87 RDH10 RBP4 RBP1 CYP26A1 CRABP2 ALDH1A3
42
p38MAPK events 65
10.67 RALA NRAS KRAS HRAS
43
retinoate biosynthesis II 1
Show member pathways
 10.55 RDH16 RBP4 RBP1 ALDH1A3 ALDH1A2 ALDH1A1
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GO Terms for Ras-Associated Autoimmune Leukoproliferative Disorder

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

# Name GO ID Score Top Affiliating Genes
1 organelle membrane GO:0031090 9.13 RDH16 RDH10 CYP26A1
2 lipid droplet GO:0005811 8.8 RDH10 RBP1 ALDH3B2

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 10 RDH16 RDH10 CYP26A1 ALDH3B2 ALDH1A3 ALDH1A2
2 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.75 NRAS KRAS HRAS
3 lung development GO:0030324 9.73 STRA6 RBP4 ALDH1A2
4 liver development GO:0001889 9.72 KRAS HRAS ALDH1A2
5 Ras protein signal transduction GO:0007265 9.71 RALA NRAS KRAS HRAS
6 embryonic forelimb morphogenesis GO:0035115 9.67 RDH10 CRABP2 ALDH1A2
7 retinoid metabolic process GO:0001523 9.65 STRA6 RDH10 RBP4 RBP1 ALDH1A1
8 response to vitamin A GO:0033189 9.61 RBP1 CYP26A1 ALDH1A2
9 ear development GO:0043583 9.57 STRA6 RDH10
10 retinoic acid metabolic process GO:0042573 9.55 RBP1 CYP26A1 CRABP2 ALDH1A3 ALDH1A2
11 nose development GO:0043584 9.54 RDH10 ALDH1A3
12 retinal metabolic process GO:0042574 9.54 RDH10 ALDH1A3 ALDH1A2
13 response to isolation stress GO:0035900 9.52 KRAS HRAS
14 vitamin A metabolic process GO:0006776 9.51 RBP1 ALDH1A2
15 embryonic camera-type eye development GO:0031076 9.5 RDH10 ALDH1A3 ALDH1A2
16 retinol transport GO:0034633 9.48 STRA6 RBP4
17 retinoic acid biosynthetic process GO:0002138 9.26 RDH10 RBP1 ALDH1A3 ALDH1A2
18 retinol metabolic process GO:0042572 9.17 RDH16 RDH10 RBP4 RBP1 ALDH1A3 ALDH1A2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.95 RDH16 RDH10 CYP26A1 ALDH3B2 ALDH1A3 ALDH1A2
2 GDP binding GO:0019003 9.73 RALA NRAS KRAS HRAS
3 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor GO:0016620 9.56 ALDH3B2 ALDH1A3 ALDH1A2 ALDH1A1
4 retinoid binding GO:0005501 9.54 RBP4 RBP1 CRABP2
5 retinal dehydrogenase activity GO:0001758 9.5 ALDH1A3 ALDH1A2 ALDH1A1
6 aldehyde dehydrogenase [NAD(P)+] activity GO:0004030 9.49 ALDH3B2 ALDH1A3
7 3-chloroallyl aldehyde dehydrogenase activity GO:0004028 9.48 ALDH3B2 ALDH1A2
8 retinol transmembrane transporter activity GO:0034632 9.46 STRA6 RBP4
9 aldehyde dehydrogenase (NAD) activity GO:0004029 9.46 ALDH3B2 ALDH1A3 ALDH1A2 ALDH1A1
10 retinol binding GO:0019841 9.26 STRA6 RBP4 RBP1 CRABP2
11 retinal binding GO:0016918 9.02 STRA6 RBP4 RBP1 CRABP2 ALDH1A2
Sources

Sources for Ras-Associated Autoimmune Leukoproliferative Disorder

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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