Ras-Associated Autoimmune Leukoproliferative Disorder disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

RALD MCID: RSS025 MIFTS: 51	Ras-Associated Autoimmune Leukoproliferative Disorder (RALD) Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Ras-Associated Autoimmune Leukoproliferative Disorder

MalaCards integrated aliases for Ras-Associated Autoimmune Leukoproliferative Disorder:

Name: Ras-Associated Autoimmune Leukoproliferative Disorder ⁵⁷ ¹¹ ⁷³ ³⁸ ⁷¹ ⁷⁵

Autoimmune Lymphoproliferative Syndrome Type 4 ¹¹ ²⁸ ⁵ ¹⁴

Rald ⁵⁷ ¹¹ ⁵⁸ ⁷³

Alps4 ⁵⁷ ¹¹ ⁷³

Ras-Associated Autoimmune Leukoproliferative Disease ¹¹ ⁵⁸

Autoimmune Lymphoproliferative Syndrome, Type Iv ⁵⁷ ⁷³

Ras-Associated Autoimmune Lymphoproliferative Syndrome Type Iv, Somatic ⁵⁷

Autoimmune Lymphoproliferative Syndrome Type Iv ¹¹

Autoimmune Lymphoproliferative Syndrome 4 ⁷³

Alps Type Iv ¹¹

Alps Type 4 ¹¹

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

Prevelance:

Ras-Associated Autoimmune Leukoproliferative Disease: <1/1000000 (Worldwide) ⁵⁸

Age Of Onset:

Ras-Associated Autoimmune Leukoproliferative Disease: Childhood,Infancy ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
onset in childhood
caused by somatic mutations

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Other diseases of blood and blood-forming organs

Other disorders of white blood cells

Other specified disorders of white blood cells

Orphanet: ⁵⁸

Rare haematological diseases

Rare immunological diseases

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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) (Updated 08-Dec-2022)

MalaCards based summary: Ras-Associated Autoimmune Leukoproliferative Disorder, also known as autoimmune lymphoproliferative syndrome type 4, is related to leukemia, acute myeloid and hemolytic anemia. An important gene associated with Ras-Associated Autoimmune Leukoproliferative Disorder is NRAS (NRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are Innate Immune System and Apoptotic Pathways in Synovial Fibroblasts. Affiliated tissues include monocytes, t cells and bone marrow, and related phenotypes are recurrent respiratory infections and splenomegaly

Orphanet: ⁵⁸ RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.

UniProtKB/Swiss-Prot: ⁷³ 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.

Disease Ontology: ¹¹ An autoimmune lymphoproliferative syndrome that has material basis in somatic mutation in the NRAS gene or the KRAS gene on chromosome 12p12.

Wikipedia: ⁷⁵ 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

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

(show top 50) (show all 138)

#	Related Disease	Score	Top Affiliating Genes
1	leukemia, acute myeloid	30.0	NRAS KRAS HRAS FASLG CASP8 BCL2L11
2	hemolytic anemia	29.9	TPP2 LRBA FASLG FAS CASP10
3	neuroblastoma	29.2	NRAS HRAS FASLG FAS CASP8 BCL2L11
4	lymphoproliferative syndrome	29.2	SH2D1A PRKCD NRAS LRBA FASLG FAS
5	autoimmune lymphoproliferative syndrome	28.1	SH2D1A PRKCD NRAS MAGT1 LRBA KRAS
6	juvenile myelomonocytic leukemia	10.4
7	splenomegaly	10.4
8	childhood leptomeningeal melanoma	10.4	NRAS HRAS
9	trachea carcinoma in situ	10.4	KRAS HRAS
10	common bile duct neoplasm	10.4	KRAS HRAS
11	malignant anus melanoma	10.4	NRAS HRAS
12	melanocytic nevus syndrome, congenital	10.4	NRAS HRAS
13	ampulla of vater benign neoplasm	10.4	KRAS HRAS
14	bladder urachal carcinoma	10.4	KRAS HRAS
15	hepatic flexure cancer	10.4	KRAS HRAS
16	vaginal carcinosarcoma	10.4	KRAS HRAS
17	urachus cancer	10.4	KRAS HRAS
18	adenosquamous lung carcinoma	10.4	KRAS HRAS
19	descending colon cancer	10.4	KRAS HRAS
20	chronic myelogenous leukemia, bcr-abl1 positive	10.4	NRAS KRAS
21	meningeal melanomatosis	10.4	NRAS HRAS
22	mucinous intrahepatic cholangiocarcinoma	10.4	KRAS HRAS
23	conjunctival nevus	10.4	NRAS HRAS
24	sigmoid neoplasm	10.4	KRAS HRAS
25	appendiceal neoplasm	10.3	KRAS HRAS
26	pancreatic mucinous cystadenoma	10.3	KRAS HRAS
27	central nervous system melanocytic neoplasm	10.3	NRAS HRAS
28	transverse colon cancer	10.3	KRAS HRAS
29	noonan syndrome-like disorder with loose anagen hair 1	10.3	KRAS HRAS
30	liver angiosarcoma	10.3	KRAS HRAS
31	ascending colon cancer	10.3	KRAS HRAS
32	mucinous lung adenocarcinoma	10.3	KRAS HRAS
33	malignant dermis tumor	10.3	NRAS HRAS
34	vulvar melanoma	10.3	NRAS HRAS
35	cystadenofibroma	10.3	KRAS HRAS
36	malignant skin fibrous histiocytoma	10.3	NRAS HRAS
37	endosalpingiosis	10.3	KRAS HRAS
38	malignant struma ovarii	10.3	NRAS HRAS
39	ovarian mucinous neoplasm	10.3	KRAS HRAS
40	appendix adenocarcinoma	10.3	KRAS HRAS
41	cervix melanoma	10.3	NRAS HRAS
42	large cell carcinoma with rhabdoid phenotype	10.3	KRAS HRAS
43	pancreatic signet ring cell adenocarcinoma	10.3	KRAS HRAS
44	cecum adenocarcinoma	10.3	KRAS HRAS
45	biliary tract benign neoplasm	10.3	KRAS HRAS
46	periampullary adenocarcinoma	10.3	KRAS HRAS
47	pancreatic acinar cell adenocarcinoma	10.3	KRAS HRAS
48	pleomorphic carcinoma	10.3	KRAS HRAS
49	small intestine adenocarcinoma	10.3	KRAS HRAS
50	acneiform dermatitis	10.3	NRAS KRAS HRAS

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

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Symptoms & Phenotypes for Ras-Associated Autoimmune Leukoproliferative Disorder

Human phenotypes related to Ras-Associated Autoimmune Leukoproliferative Disorder:

³⁰ (show all 15)

#	Description	HPO Frequency	HPO Source Accession
1	recurrent respiratory infections ³⁰	Occasional (7.5%)	HP:0002205
2	splenomegaly ³⁰		HP:0001744
3	hepatomegaly ³⁰		HP:0002240
4	hemolytic anemia ³⁰		HP:0001878
5	leukemia ³⁰		HP:0001909
6	lymphoma ³⁰		HP:0002665
7	neutropenia ³⁰		HP:0001875
8	pancytopenia ³⁰		HP:0001876
9	lymphocytosis ³⁰		HP:0100827
10	follicular hyperplasia ³⁰		HP:0002729
11	autoimmune thrombocytopenia ³⁰		HP:0001973
12	lymphoproliferative disorder ³⁰		HP:0005523
13	monocytosis ³⁰		HP:0012311
14	increased circulating antibody level ³⁰		HP:0010702
15	decreased lymphocyte apoptosis ³⁰		HP:0002731

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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 (Updated 08-Dec-2022)

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

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.21	B3GNT2 BCL2L11 CARD11 CASP8 CTPS1 FAS
2	cellular	MP:0005384	10.07	B3GNT2 BCL2L11 CARD11 CASP8 DOCK8 FAS
3	renal/urinary system	MP:0005367	10.06	BCL2L11 CASP8 CTPS1 FAS FASLG HRAS
4	endocrine/exocrine gland	MP:0005379	10.06	BCL2L11 CASP8 FAS FASLG HRAS KRAS
5	immune system	MP:0005387	10.06	B3GNT2 BCL2L11 CARD11 CASP8 CTPS1 DOCK8
6	neoplasm	MP:0002006	10.03	BCL2L11 CASP8 FAS FASLG HRAS KRAS
7	hematopoietic system	MP:0005397	9.8	B3GNT2 BCL2L11 CARD11 CASP8 DOCK8 FAS
8	integument	MP:0010771	9.32	BCL2L11 CARD11 CASP8 CTPS1 FAS FASLG

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Drugs & Therapeutics for Ras-Associated Autoimmune Leukoproliferative Disorder

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

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Genetic Tests for Ras-Associated Autoimmune Leukoproliferative Disorder

Genetic tests related to Ras-Associated Autoimmune Leukoproliferative Disorder:

#	Genetic test	Affiliating Genes
1	Autoimmune Lymphoproliferative Syndrome Type 4 ²⁸	KRAS NRAS

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Anatomical Context for Ras-Associated Autoimmune Leukoproliferative Disorder

Organs/tissues related to Ras-Associated Autoimmune Leukoproliferative Disorder:

MalaCards : Monocytes, T Cells, Bone Marrow, Bone, Liver, Myeloid, Breast

ODiseA: Blood And Bone Marrow

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Publications for Ras-Associated Autoimmune Leukoproliferative Disorder

Articles related to Ras-Associated Autoimmune Leukoproliferative Disorder:

(show top 50) (show all 65)

#	Title	Authors	PMID	Year
1	Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis. ⁶² ⁵⁷ ⁵	Niemela JE...Oliveira JB	21079152	2011
2	Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation. ⁶² ⁵⁷ ⁵	Takagi M...Mizutani S	21063026	2011
3	NRAS mutation causes a human autoimmune lymphoproliferative syndrome. ⁵⁷ ⁵	Oliveira JB...Lenardo MJ	17517660	2007
4	Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations. ⁵	Peacock JD...Steensma M	25808193	2015
5	Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. ⁵	Kiel C...Serrano L	24803665	2014
6	The expanding spectrum of the autoimmune lymphoproliferative syndromes. ⁵⁷	Oliveira JB	24240292	2013
7	Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. ⁵	Groesser L...Hafner C	22683711	2012
8	Keratinocytic epidermal nevi are associated with mosaic RAS mutations. ⁵	Hafner C...Real FX	22499344	2012
9	Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. ⁵	Gremer L...Ahmadian MR	20949621	2011
10	Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma. ⁵	Bourdeaut F...Delattre O	20805368	2010
11	Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation. ⁵	Rijntjes-Jacobs EG...Walther FJ	20949522	2010
12	Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia. ⁵	De Filippi P...Danesino C	19775298	2009
13	Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. ⁵	Matsuda K...Koike K	17332249	2007
14	Germline KRAS mutations cause Noonan syndrome. ⁵	Schubbert S...Kratz CP	16474405	2006
15	Clinicopathologic significance of the K-ras gene codon 12 point mutation in stomach cancer. An analysis of 140 cases. ⁵	Lee KH...Kim SH	7773929	1995
16	Detection of point mutations in the Kirsten-ras oncogene provides evidence for the multicentricity of pancreatic carcinoma. ⁵	Motojima K...Kanematsu T	8439212	1993
17	N-ras gene point mutations in childhood acute lymphocytic leukemia correlate with a poor prognosis. ⁵	Lubbert M...Koeffler HP	2407301	1990
18	The human c-Kirsten ras gene is activated by a novel mutation in codon 13 in the breast carcinoma cell line MDA-MB231. ⁵	Kozma SC...Hynes NE	3627975	1987
19	Amino-acid substitutions at codon 13 of the N-ras oncogene in human acute myeloid leukaemia. ⁵	Bos JL...Steenvoorden AC	2989702	1985
20	A case of refractory systemic lupus erythematosus with monocytosis exhibiting somatic KRAS mutation. ⁶²	Law SM...Ohmura K	35361277	2022
21	Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD). ⁶²	Papa R...Volpi S	34455097	2021
22	Correlations between Retinal Arterial Morphometric Parameters and Neurodegeneration in Patients with Type 2 Diabetes Mellitus with No or Mild Diabetic Retinopathy. ⁶²	Damian I...Nicoara SD	33807881	2021
23	Clinical Spectrum of Ras-Associated Autoimmune Leukoproliferative Disorder (RALD). ⁶²	Neven Q...Brichard B	33011939	2021
24	Idiopathic splenomegaly in childhood and the spectrum of RAS-associated lymphoproliferative disease: a case report. ⁶²	Blanchard-Rohner G...Turvey SE	33472608	2021
25	Differences and Similarities in Motives to Decrease Drinking, and to Drink in General Between Former and Current Heavy Drinkers-Implications for Changing Own Drinking Behaviour. ⁶²	Rowicka M	35095638	2021
26	Alcohol Use Behaviors and Reasons to Abstain From or Limit Drinking Among Medically Vulnerable Youth. ⁶²	Wisk LE...Weitzman ER	31985512	2020
27	Risk factors for recurrent autoimmune liver diseases after liver transplantation: A meta-analysis. ⁶²	Chen C...Jiang Y	32443344	2020
28	Genetic heterogeneity of pediatric systemic lupus erythematosus with lymphoproliferation. ⁶²	Li G...Sun L	32443356	2020
29	Relative Average Look Duration and its Association with Neurophysiological Activity in Young Children with Autism Spectrum Disorder. ⁶²	Isaev DY...Dawson G	32024855	2020
30	RAS-associated Autoimmune Leukoproliferative disease (RALD) manifested with early-onset SLE-like syndrome: a case series of RALD in Chinese children. ⁶²	Wang W...Song H	31412876	2019
31	Superficial and Deep Cutaneous Involvement by RAS-Associated Autoimmunne Leukoproliferative Disease (RALD Cutis): A Histologic Mimicker of Histiocytoid Sweet Syndrome. ⁶²	Tran TAN...Chang CC	31335417	2019
32	A full-width half-maximum method to assess retinal vascular structural changes in patients with ischemic heart disease and microvascular anginga. ⁶²	Xu BL...Tong YH	31358869	2019
33	Cutaneous involvement in an 8-year-old boy with Ras-associated autoimmune leucoproliferative disorder (RALD). ⁶²	Giacaman A...Martin-Santiago A	29908030	2018
34	Weekly Rituximab Followed by Monthly Rituximab Treatment for Autoimmune Disease Associated With RAS-associated Autoimmune Leukoproliferative Disease. ⁶²	Toyoda H...Hirayama M	30080751	2018
35	Status of KRAS in iPSCs Impacts upon Self-Renewal and Differentiation Propensity. ⁶²	Kubara K...Otsu M	29983389	2018
36	eRepo-ORP: Exploring the Opportunity Space to Combat Orphan Diseases with Existing Drugs. ⁶²	Brylinski M...Lemoine J	29237557	2018
37	[Ras-associated autoimmune leukoproliferative disorder: a report of 2 cases and literature review]. ⁶²	He TY...Yang J	29141318	2017
38	T and B cell clonal expansion in Ras-associated lymphoproliferative disease (RALD) as revealed by next-generation sequencing. ⁶²	Levy-Mendelovich S...Somech R	28500641	2017
39	The importance of considering monogenic causes of autoimmunity: A somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus. ⁶²	Ragotte RJ...Turvey SE	28043923	2017
40	Reprogramming of the retinoic acid pathway in decidualizing human endometrial stromal cells. ⁶²	Ozaki R...Takeda S	28253328	2017
41	Trajectories and correlates of reasons for abstaining or limiting drinking during adolescence. ⁶²	Merrill JE...Jackson KM	26320735	2016
42	Somatic mosaicism for a NRAS mutation associates with disparate clinical features in RAS-associated leukoproliferative disease: a report of two cases. ⁶²	Shiota M...Kanegane H	25896945	2015
43	JMML and RALD (Ras-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entities. ⁶²	Calvo KR...Rao VK	25691160	2015
44	Retinaldehyde dehydrogenase 1 deficiency inhibits PPARγ-mediated bone loss and marrow adiposity. ⁶²	Nallamshetty S...Plutzky J	25064526	2014
45	Update on retinal vessel structure measurement with spectral-domain optical coherence tomography. ⁶²	Zhu TP...Ma J	24976361	2014
46	Rapid atomic layer deposition of silica nanolaminates: synergistic catalysis of Lewis/Brønsted acid sites and interfacial interactions. ⁶²	Fang G...Ma J	24126605	2013
47	Moderate vitamin A supplementation in obese mice regulates tissue factor and cytokine production in a sex-specific manner. ⁶²	Gushchina LV...Ziouzenkova O	23850584	2013
48	Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans. ⁶²	Kuehn HS...Oliveira JB	23430113	2013
49	Deficiency of retinaldehyde dehydrogenase 1 induces BMP2 and increases bone mass in vivo. ⁶²	Nallamshetty S...Plutzky J	23951127	2013
50	Autocrine function of aldehyde dehydrogenase 1 as a determinant of diet- and sex-specific differences in visceral adiposity. ⁶²	Yasmeen R...Ziouzenkova O	22933113	2013

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Genes for Ras-Associated Autoimmune Leukoproliferative Disorder

Genes related to Ras-Associated Autoimmune Leukoproliferative Disorder (2 elite genes):

(show all 20)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	1714.39	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative somatic mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Unconfirmed association ⁵⁷ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	17332249 17517660 2989702 (more) 2407301 21079152 19775298
2	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	1380.15	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative somatic mutation ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴	3627975 7773929 8439212 (more) 16474405 17332249 20805368 20949522 20949621 21063026 21079152 22499344 22683711 24803665 25808193
3	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	5.96	DISEASES inferred ¹⁴
4	CASP10	Caspase 10	Protein Coding	5.81	DISEASES inferred ¹⁴
5	SH2D1A	SH2 Domain Containing 1A	Protein Coding	5.8	DISEASES inferred ¹⁴
6	TCF23	Transcription Factor 23	Protein Coding	5.54	DISEASES inferred ¹⁴
7	LRBA	LPS Responsive Beige-Like Anchor Protein	Protein Coding	5.44	DISEASES inferred ¹⁴
8	FASLG	Fas Ligand	Protein Coding	5.33	DISEASES inferred ¹⁴
9	MAGT1	Magnesium Transporter 1	Protein Coding	5.26	DISEASES inferred ¹⁴
10	IRX2-DT	IRX2 Divergent Transcript	RNA Gene	5.08	DISEASES inferred ¹⁴
11	PRKCD	Protein Kinase C Delta	Protein Coding	4.98	DISEASES inferred ¹⁴
12	BCL2L11	BCL2 Like 11	Protein Coding	4.94	DISEASES inferred ¹⁴
13	B3GNT2	UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 2	Protein Coding	4.89	DISEASES inferred ¹⁴
14	CARD11	Caspase Recruitment Domain Family Member 11	Protein Coding	4.87	DISEASES inferred ¹⁴
15	DOCK8	Dedicator Of Cytokinesis 8	Protein Coding	4.75	DISEASES inferred ¹⁴
16	CASP8	Caspase 8	Protein Coding	4.74	DISEASES inferred ¹⁴
17	TPP2	Tripeptidyl Peptidase 2	Protein Coding	4.74	DISEASES inferred ¹⁴
18	RALA	RAS Like Proto-Oncogene A	Protein Coding	4.68	DISEASES inferred ¹⁴
19	CTPS1	CTP Synthase 1	Protein Coding	4.64	DISEASES inferred ¹⁴
20	FAS	Fas Cell Surface Death Receptor	Protein Coding	4.6	DISEASES inferred ¹⁴

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Variations for Ras-Associated Autoimmune Leukoproliferative Disorder

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

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	KRAS	NM_033360.4(KRAS):c.436G>C (p.Ala146Pro)	SNV	Pathogenic	375963	rs121913527	GRCh37: 12:25378562-25378562 GRCh38: 12:25225628-25225628
2	KRAS	NM_004985.5(KRAS):c.101C>G (p.Pro34Arg)	SNV	Pathogenic	12590	rs104894366	GRCh37: 12:25398218-25398218 GRCh38: 12:25245284-25245284
3	NRAS	NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)	SNV	Pathogenic	13901	rs121434596	GRCh37: 1:115258744-115258744 GRCh38: 1:114716123-114716123
4	KRAS	NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)	SNV	Pathogenic	12580	rs112445441	GRCh37: 12:25398281-25398281 GRCh38: 12:25245347-25245347
5	KRAS	NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)	SNV	Pathogenic	12582	rs121913529	GRCh37: 12:25398284-25398284 GRCh38: 12:25245350-25245350
6	KRAS	NM_004985.5(KRAS):c.37G>T (p.Gly13Cys)	SNV	Pathogenic	45123	rs121913535	GRCh37: 12:25398282-25398282 GRCh38: 12:25245348-25245348
7	KRAS	NM_004985.5(KRAS):c.458A>T (p.Asp153Val)	SNV	Pathogenic	12587	rs104894360	GRCh37: 12:25362838-25362838 GRCh38: 12:25209904-25209904
8	KRAS	NM_033360.4(KRAS):c.355G>A (p.Asp119Asn)	SNV	Likely Pathogenic	40460	rs730880471	GRCh37: 12:25378643-25378643 GRCh38: 12:25225709-25225709
9	KRAS	NM_033360.4(KRAS):c.112-5C>T	SNV	Uncertain Significance	626130	rs376520586	GRCh37: 12:25380351-25380351 GRCh38: 12:25227417-25227417
10	KRAS	NM_004985.5(KRAS):c.451-5541A>G	SNV	Uncertain Significance	1028518	rs779951033	GRCh37: 12:25368386-25368386 GRCh38: 12:25215452-25215452

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

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

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Pathways for Ras-Associated Autoimmune Leukoproliferative Disorder

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

(show top 50) (show all 100)

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.95	TPP2 SH2D1A RALA PRKCD NRAS MAGT1
2	Apoptotic Pathways in Synovial Fibroblasts ⁶⁴ Show member pathways Actin-Based Motility by Rho Family GTPases ⁶⁴ Cellular Apoptosis Pathway ⁶⁴ DHA Signaling ⁶⁴ eIF2 Pathway ⁶⁴ ERK5 Signaling ⁶⁴ Glioma Invasiveness ⁶⁴ Mitochondrial Apoptosis ⁶⁴ Nuclear Receptor Activation by Vitamin-A ⁶⁴ p53 Mediated Apoptosis ⁶⁴ PPAR Pathway ⁶⁴ Rac1 Pathway ⁶⁴ Rap1 Pathway ⁶⁴ Telomerase Components in Cell Signaling ⁶⁴	13.88	BCL2L11 CASP10 CASP8 FAS FASLG HRAS
3	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.81	TCF23 RALA PRKCD NRAS KRAS HRAS
4	Signal Transduction ⁶⁶	13.78	RALA PRKCD NRAS KRAS HRAS FASLG
5	MIF Mediated Glucocorticoid Regulation ⁶⁴ Show member pathways all-trans-Retinoic Acid Signaling in Brain ⁶⁴ Endothelin-1 Signaling Pathway ⁶⁴ Glucocorticoid Receptor Signaling ⁶⁴ IL-6 Pathway ⁶⁴ MIF Regulation of Innate Immune Cells ⁶⁴ NFAT Signaling and Lymphocyte Interactions ⁶⁴ Overview of proinflammatory and profibrotic mediators ⁷⁴ PEDF Induced Signaling ⁶⁴ PGC1Alpha Pathway ⁶⁴ RAR-Gamma-RXR-Alpha Degradation ⁶⁴ STAT3 Pathway ⁶⁴	13.67	PRKCD NRAS KRAS HRAS FASLG FAS
6	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.45	RALA PRKCD NRAS KRAS HRAS FASLG
7	Cytokine Signaling in Immune system ⁶⁶ Show member pathways Signaling by Interleukins ⁶⁶	13.34	RALA PRKCD NRAS KRAS HRAS FASLG
8	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	13.26	TCF23 PRKCD NRAS KRAS HRAS FASLG
9	PI3K-Akt signaling pathway ⁷⁴ Show member pathways Focal adhesion: PI3K-Akt-mTOR-signaling pathway ⁷⁴	12.98	NRAS KRAS HRAS FASLG BCL2L11
10	TCR Signaling (Qiagen) ⁶⁴ Show member pathways Fc-EpsilonRI Pathway ⁶⁴ ITK and TCR Signaling ⁶⁴ PDGF Pathway ⁶⁴ PKC-Theta Pathway ⁶⁴	12.95	PRKCD NRAS KRAS HRAS CARD11
11	TNFR1 Pathway ⁶⁴ Show member pathways Apoptosis ⁷⁴ Apoptosis and survival TNFR1 signaling pathway ²² Apoptosis modulation by HSP70 ⁷⁴ Apoptosis through Death Receptors ⁶⁴ Apoptotic Pathways Triggered By HIV1 ⁶⁴ Ceramide signaling pathway ⁶¹ DR3 Signaling ⁶⁴ GITR Pathway ⁶⁴ HIV-1 Nef: Negative effector of Fas and TNF-alpha ⁶¹ Stimulation of the cell death response by PAK-2p34 ⁶⁶ TNF Signaling ⁶⁴ TNF-related weak inducer of apoptosis (TWEAK) signaling pathway ⁷⁴ TRAIL Pathway ⁶⁴ TWEAK Pathway ⁶⁴	12.94	BCL2L11 CASP10 CASP8 FAS FASLG HRAS
12	p75 NTR receptor-mediated signalling ⁶⁶ Show member pathways Axonal growth inhibition (RHOA activation) ⁶⁶ Axonal growth stimulation ⁶⁶ Cell death signalling via NRAGE, NRIF and NADE ⁶⁶ Death Receptor Signaling ⁶⁶ G alpha (12/13) signalling events ⁶⁶ NADE modulates death signalling ⁶⁶ NF-kB is activated and signals survival ⁶⁶ NRAGE signals death through JNK ⁶⁶ NRIF signals cell death from the nucleus ⁶⁶ p75NTR negatively regulates cell cycle via SC1 ⁶⁶ p75NTR recruits signalling complexes ⁶⁶ p75NTR regulates axonogenesis ⁶⁶ p75NTR signals via NF-kB ⁶⁶ Regulated proteolysis of p75NTR ⁶⁶	12.91	FASLG FAS CASP8 CASP10 BCL2L11
13	NFAT and Cardiac Hypertrophy ⁶⁴ Show member pathways IGF1R Signaling ⁶⁴ Signaling Involved in Cardiac Hypertrophy ⁶⁴	12.9	RALA PRKCD NRAS KRAS HRAS
14	CCR5 Pathway in Macrophages ⁶⁴ Show member pathways Androgen Signaling ⁶⁴ Chemokine Signaling ⁶⁴ Chemokine signaling pathway ⁷⁴	12.89	PRKCD NRAS KRAS HRAS FASLG FAS
15	Alzheimer's disease and miRNA effects ⁷⁴ Show member pathways Alzheimer's disease ⁷⁴	12.87	NRAS KRAS HRAS FAS CASP8
16	Signaling by Receptor Tyrosine Kinases ⁶⁶	12.87	RALA PRKCD NRAS KRAS HRAS
17	Toll-like receptor signaling pathway ⁷⁴ Show member pathways Hepatitis B infection ⁷⁴ Measles virus infection ⁷⁴ Regulation of toll-like receptor signaling pathway ⁷⁴	12.84	NRAS KRAS HRAS FASLG FAS CASP8
18	fMLP Pathway ⁶⁴ Show member pathways CXCR4 Pathway ⁶⁴ Huntington's Disease Pathway ⁶⁴ Internalin Pathway ⁶⁴ Signal transduction Activation of PKC via G-Protein coupled receptor ²²	12.8	CASP8 HRAS KRAS NRAS PRKCD
19	MAPK-Erk Pathway ⁶⁷ Show member pathways Actin Dynamics Signaling Pathway ⁶⁷ G Protein-coupled Receptors Signaling ⁶⁷	12.78	BCL2L11 HRAS KRAS NRAS PRKCD
20	DREAM Repression and Dynorphin Expression ⁶⁴ Show member pathways Arrhythmogenic right ventricular cardiomyopathy ⁷⁴ BMP Pathway ⁶⁴ Calpain Protease Regulates Cellular Mechanics ⁶⁴ Caspase Cascade ⁶⁴ nNOS Signaling in Skeletal Muscle ⁶⁴ Presynaptic depolarization and calcium channel opening ⁶⁶ TOB in Osteoblast Signaling ⁶⁴	12.74	NRAS KRAS HRAS FASLG FAS CASP8
21	Programmed Cell Death ⁶⁶ Show member pathways Apoptosis ⁶⁶	12.71	PRKCD FASLG FAS CASP8 BCL2L11
22	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴	12.7	PRKCD NRAS KRAS HRAS FASLG
23	4-1BB Pathway ⁶⁴ Show member pathways CD27 Pathway ⁶⁴ CD40 Signaling ⁶⁴ CMV and MAPK Pathways ⁶⁴ NF-KappaB Activation by EBV ⁶⁴ NF-kappaB Activation by Viruses ⁶⁴ PKR Pathway ⁶⁴ SUMO Pathway ⁶⁴ TNFR2 Pathway ⁶⁴	12.68	PRKCD NRAS KRAS HRAS FASLG FAS
24	Overview of interferons-mediated signaling pathway ⁷⁴ Show member pathways all-trans-Retinoic Acid Mediated Apoptosis ⁶⁴ Cytokine Network ⁶⁴ Immune response IFN alpha/beta signaling pathway ²² Interferon alpha/beta signaling ⁶⁶ Jak/STAT Signaling Pathway ⁶⁵ Regulation of IFNA/IFNB signaling ⁶⁶ Type III interferon signaling ⁷⁴	12.67	PRKCD NRAS KRAS HRAS CASP8
25	TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions ⁶⁵ Show member pathways 14-3-3 Induced Apoptosis ⁶⁴ TNF Superfamily Pathway ⁶⁴ TNFs bind their physiological receptors ⁶⁶ TRAF Pathway ⁶⁴	12.65	PRKCD HRAS FASLG FAS CASP8 CASP10
26	Chks in Checkpoint Regulation ⁶⁴ Show member pathways DNA Repair Mechanisms ⁶⁴ Estrogen-mediated S-Phase Entry ⁶⁴ G2-M Phase Transition ⁶⁴ SREBP Proteolysis ⁶⁴	12.64	FASLG FAS CASP8 CASP10 BCL2L11
27	NF-kappaB Signaling ³	12.59	SH2D1A FASLG FAS CARD11
28	Signaling by NTRKs ⁶⁶ Show member pathways Activated NTRK3 signals through PI3K ⁶⁶ Activated NTRK3 signals through PLCG1 ⁶⁶ Activated NTRK3 signals through RAS ⁶⁶ Activation of TRKA receptors ⁶⁶ NGF-independant TRKA activation ⁶⁶ NTF3 activates NTRK3 signaling ⁶⁶ NTRK3 as a dependence receptor ⁶⁶ PI3K/AKT activation ⁶⁶ Retrograde neurotrophin signalling ⁶⁶ Signaling by NTRK1 (TRKA) ⁶⁶ Signaling by NTRK3 (TRKC) ⁶⁶	12.58	RALA NRAS KRAS HRAS
29	Endometrial cancer ⁷⁴ Show member pathways Chromosomal and microsatellite instability in colorectal cancer ⁷⁴ Melanoma ⁷⁴ Non-small cell lung cancer ⁷⁴ Pancreatic adenocarcinoma pathway ⁷⁴ Signal transduction PTEN pathway ²²	12.53	BCL2L11 CASP8 HRAS KRAS NRAS PRKCD
30	VEGF Pathway (Qiagen) ⁶⁴ Show member pathways CCKBR-Gastrin Stimulated Signaling ⁶⁴ Development VEGF-family signaling ²² Neurophilin interactions with VEGF and VEGFR ⁶⁶ VEGF and VEGFR signaling network ⁶¹ VEGF Family Ligands and Receptor Interactions ⁶⁴	12.46	HRAS KRAS NRAS PRKCD
31	Development FGFR signaling pathway ²² Show member pathways Development FGF-family signaling ²² Development Flt3 signaling ²² FGF Pathway ⁶⁴	12.43	HRAS KRAS NRAS PRKCD RALA
32	Death Receptor Signaling ⁶⁷ Show member pathways Apoptosis and survival Apoptotic TNF-family pathways ²² Apoptosis Signaling Pathway ⁶⁵ SARS-CoV-1-mediated effects on programmed cell death ⁶⁶ TNF Signaling ⁶⁷	12.4	FASLG FAS CASP8 CASP10
33	NF-kappaB Pathway ⁷⁰ Show member pathways Akt Pathway ⁷⁰ Apoptosis Pathway ⁷⁰	12.4	PRKCD NRAS KRAS HRAS CASP8 CASP10
34	Development EGFR signaling pathway ²² Show member pathways Development ERBB-family signaling ²² EGF Pathway ⁶⁴ EGFR Signaling Pathway ⁶⁷ ErbB receptor signaling network ⁶¹	12.4	PRKCD NRAS KRAS HRAS CASP8 CASP10
35	Apoptosis and Autophagy ³ Show member pathways Activation and oligomerization of BAK protein ⁶⁶ AIF Pathway ⁶⁴ Nanomaterial induced apoptosis ⁷⁴ Pro-survival signaling of neuroprotectin D1 ⁷⁴ vRNA Synthesis ⁶⁶	12.39	FASLG FAS CASP8 BCL2L11
36	Apoptosis and survival FAS signaling cascades ²² Show member pathways Apoptosis and survival Caspase cascade ²² Breakdown of the nuclear lamina ⁶⁶ Caspase Cascade in Apoptosis ⁶¹ Fas ligand pathway and stress induction of heat shock proteins ⁷⁴ Fas Signaling ⁶⁴	12.39	FASLG FAS CASP8 CASP10
37	CLEC7A (Dectin-1) signaling ⁶⁶ Show member pathways Alternative NF-kappaB pathway ⁶¹ CLEC7A/inflammasome pathway ⁶⁶ C-type lectin receptors (CLRs) ⁶⁶	12.38	CARD11 CASP8 HRAS KRAS NRAS PRKCD
38	B Cell Receptor Signaling Pathway ⁶⁷ Show member pathways T Cell Receptor Signaling Pathway ⁶⁷	12.36	PRKCD NRAS KRAS HRAS
39	Signaling by VEGF ⁶⁶ Show member pathways VEGFA-VEGFR2 Pathway ⁶⁶	12.35	PRKCD NRAS KRAS HRAS
40	MAPK signaling pathway ⁷⁴	12.32	PRKCD NRAS KRAS HRAS FASLG FAS
41	Signaling by ERBB2 KD Mutants ⁶⁶ Show member pathways Constitutive Signaling by Overexpressed ERBB2 ⁶⁶ GRB2 events in ERBB2 signaling ⁶⁶ PI3K events in ERBB2 signaling ⁶⁶ PI3K events in ERBB4 signaling ⁶⁶ PLCG1 events in ERBB2 signaling ⁶⁶ SHC1 events in ERBB2 signaling ⁶⁶ SHC1 events in ERBB4 signaling ⁶⁶ Signaling by ERBB2 ECD mutants ⁶⁶ Signaling by ERBB2 in Cancer ⁶⁶ Signaling by ERBB2 TMD/JMD mutants ⁶⁶	12.29	PRKCD NRAS KRAS HRAS
42	Ras signaling ⁷⁴	12.27	RALA NRAS KRAS HRAS FASLG
43	MAPK Signaling: Mitogens ⁶⁵ Show member pathways Akt Signaling Pathway ⁶⁵	12.25	BCL2L11 HRAS KRAS NRAS
44	VEGF Signaling Pathway ⁶⁰ ⁶⁷ Show member pathways Nanoparticle-mediated activation of receptor signaling ⁷⁴ TGF-beta Signaling ⁶⁷	12.25	PRKCD NRAS KRAS HRAS
45	p53 Signaling ⁶⁴ Show member pathways p53 Pathway ⁶⁷	12.25	FASLG FAS CASP8 CASP10
46	NGF Pathway ⁶⁴ Show member pathways MAPK and NFkB signaling pathways inhibited by Yersinia YopJ ⁷⁴ TRKA Signaling ⁶⁴	12.21	HRAS KRAS NRAS PRKCD
47	Regulation by c-FLIP ⁶⁶ Show member pathways CASP8 activity is inhibited ⁶⁶ Caspase activation via Death Receptors in the presence of ligand ⁶⁶ Caspase activation via Dependence Receptors in the absence of ligand ⁶⁶ Caspase activation via extrinsic apoptotic signalling pathway ⁶⁶ Dimerization of procaspase-8 ⁶⁶ FAS (CD95) signaling pathway ⁶¹ FasL/ CD95L signaling ⁶⁶ TRAIL signaling ⁶⁶ TRAIL signaling pathway ⁶¹	12.2	FASLG FAS CASP8 CASP10
48	Oncogenic MAPK signaling ⁶⁶ Show member pathways Signaling by BRAF and RAF1 fusions ⁶⁶	12.18	NRAS KRAS HRAS BCL2L11
49	FLT3 signaling in disease ⁶⁶ Show member pathways FLT3 Signaling ⁶⁶ FLT3 signaling by CBL mutants ⁶⁶ FLT3 signaling through SRC family kinases ⁶⁶ Negative regulation of FLT3 ⁶⁶ Signaling by FLT3 fusion proteins ⁶⁶ Signaling by FLT3 ITD and TKD mutants ⁶⁶ STAT5 Activation ⁶⁶ STAT5 activation downstream of FLT3 ITD mutants ⁶⁶	12.16	NRAS KRAS HRAS BCL2L11
50	CCR3 Pathway in Eosinophils ⁶⁴ Show member pathways VEGF and S-1P Signaling ⁶⁴	12.16	HRAS KRAS NRAS PRKCD

Sources

GO Terms for Ras-Associated Autoimmune Leukoproliferative Disorder

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

#	Name	GO ID	Score	Top Affiliating Genes
1	death-inducing signaling complex	GO:0031264	9.46	FAS CASP8
2	ripoptosome	GO:0097342	9.26	CASP8 CASP10
3	CD95 death-inducing signaling complex	GO:0031265	9.1	FAS CASP8 CASP10

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

#	Name	GO ID	Score	Top Affiliating Genes
1	extrinsic apoptotic signaling pathway	GO:0097191	9.73	FASLG FAS CASP8
2	B cell proliferation	GO:0042100	9.63	PRKCD CTPS1 CARD11
3	necroptotic signaling pathway	GO:0097527	9.62	FASLG FAS
4	regulation of apoptotic process	GO:0042981	9.61	FAS CASP8 CASP10 CARD11 BCL2L11
5	Ras protein signal transduction	GO:0007265	9.23	RALA NRAS KRAS HRAS

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

#	Name	GO ID	Score	Top Affiliating Genes
1	GDP binding	GO:0019003	9.56	RALA NRAS KRAS HRAS
2	death effector domain binding	GO:0035877	9.46	CASP8 CASP10
3	G protein activity	GO:0003925	9.23	RALA NRAS KRAS HRAS