Hemophagocytic Lymphohistiocytosis, Familial, 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

FHL2 MCID: HMP012 MIFTS: 42	Hemophagocytic Lymphohistiocytosis, Familial, 2 (FHL2) Categories: Blood diseases, Genetic diseases, Immune diseases, Liver diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial, 2

MalaCards integrated aliases for Hemophagocytic Lymphohistiocytosis, Familial, 2:

Name: Hemophagocytic Lymphohistiocytosis, Familial, 2 ⁵⁷ ⁵³ ²⁹ ¹³ ⁶ ⁷³

Hplh2 ⁵⁷ ¹² ⁵³ ⁷⁵

Fhl2 ⁵⁷ ¹² ⁵³ ⁷⁵

Hlh2 ⁵⁷ ¹² ⁵³ ⁷⁵

Familial Hemophagocytic Lymphohistiocytosis 2 ¹² ⁷⁵ ¹⁵

Hemophagocytic Lymphohistiocytosis, Familial, 2, Susceptibility to ⁶

Lymphohistiocytosis, Hemophagocytic, Familial, Type 2 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

HPO:

³²

hemophagocytic lymphohistiocytosis, familial, 2:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 603553

Disease Ontology ¹² DOID:0110922

MedGen ⁴² C1863727

MeSH ⁴⁴ D051359

SNOMED-CT via HPO ⁶⁹ 258211005 18165001 128613002 more

UMLS ⁷³ C1863727

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Summaries for Hemophagocytic Lymphohistiocytosis, Familial, 2

OMIM : ⁵⁷ Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG; 147570) and TNF-alpha (191160), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by Dufourcq-Lagelouse et al., 1999, Stepp et al., 1999, and Molleran Lee et al., 2004). For a general phenotypic description and a discussion of genetic heterogeneity of FHL, see 267700. (603553)

MalaCards based summary : Hemophagocytic Lymphohistiocytosis, Familial, 2, also known as hplh2, is related to hemophagocytic lymphohistiocytosis and acute erythroid leukemia, and has symptoms including seizures, ataxia and hemiplegia. An important gene associated with Hemophagocytic Lymphohistiocytosis, Familial, 2 is PRF1 (Perforin 1), and among its related pathways/superpathways are Signaling by PTK6 and Bacterial invasion of epithelial cells. Affiliated tissues include t cells, bone and liver, and related phenotypes are seizures and ataxia

Disease Ontology : ¹² A hemophagocytic lymphohistiocytosis that has material basis in an autosomal recessive mutation of PRF1 on chromosome 10q22.1.

UniProtKB/Swiss-Prot : ⁷⁵ Familial hemophagocytic lymphohistiocytosis 2: A rare disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia.

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Related Diseases for Hemophagocytic Lymphohistiocytosis, Familial, 2

Diseases in the Hemophagocytic Lymphohistiocytosis family:

Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytic Lymphohistiocytosis, Familial, 5

Diseases related to Hemophagocytic Lymphohistiocytosis, Familial, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)

#	Related Disease	Score	Top Affiliating Genes
1	hemophagocytic lymphohistiocytosis	11.6
2	acute erythroid leukemia	11.4
3	rhabdomyosarcoma	11.4
4	dilated cardiomyopathy	11.2
5	hypogonadotropic hypogonadism 24 without anosmia	11.1
6	lymphoproliferative syndrome, x-linked, 1	11.1
7	hemophagocytic lymphohistiocytosis, familial, 4	11.1
8	cervical polyp	11.1
9	adrenal rest tumor	11.1
10	testis seminoma	11.1
11	cardiac rupture	11.1
12	left ventricular noncompaction	11.0
13	familial isolated dilated cardiomyopathy	11.0
14	breast cancer	10.2
15	colorectal cancer	10.2
16	leukemia	10.2
17	prostate cancer	10.1
18	cervical cancer	10.1
19	ovarian cancer	9.9
20	neuroblastoma	9.9
21	pancreatic cancer	9.9
22	leukemia, acute myeloid	9.9
23	pachyonychia congenita 3	9.9
24	ischemia	9.9
25	influenza	9.9
26	myeloid leukemia	9.9
27	viral infectious disease	9.9
28	hypertrophic cardiomyopathy	9.9
29	cranioectodermal dysplasia 1	9.9	IFT122 WDR35
30	short-rib thoracic dysplasia 3 with or without polydactyly	9.8	IFT122 WDR35
31	hemophagocytic lymphohistiocytosis, familial, 1	9.8	ELMO2 IFT122 WDR35

Graphical network of the top 20 diseases related to Hemophagocytic Lymphohistiocytosis, Familial, 2:

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Symptoms & Phenotypes for Hemophagocytic Lymphohistiocytosis, Familial, 2

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neurologic Central Nervous System:
seizures
ataxia
encephalitis
tetraplegia
increased intracranial pressure
more

Abdomen Spleen:
splenomegaly

Laboratory Abnormalities:
hypertriglyceridemia
hyponatremia
prolonged prothrombin time
hypoalbuminemia
hypoproteinemia
more

Skin Nails Hair Skin:
jaundice
purpuric rashes

Muscle Soft Tissue:
generalized edema

Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

Hematology:
anemia
thrombocytopenia
leukopenia

Immunology:
lymphadenopathy
overproduction by t lymphocytes and macrophages of cytokines, particularly interferon gamma and tumor necrosis factor alpha
activated hla dr+ t cells in peripheral blood
reduced natural killer cell cytotoxicity
reduced t cell cytotoxicity
more

Head And Neck Head:
bulging fontanelle

Clinical features from OMIM:

603553

Human phenotypes related to Hemophagocytic Lymphohistiocytosis, Familial, 2:

³² (show all 32)

#	Description	HPO Source Accession
1	seizures ³²	HP:0001250
2	ataxia ³²	HP:0001251
3	failure to thrive ³²	HP:0001508
4	encephalitis ³²	HP:0002383
5	tetraplegia ³²	HP:0002445
6	global developmental delay ³²	HP:0001263
7	splenomegaly ³²	HP:0001744
8	hepatomegaly ³²	HP:0002240
9	increased intracranial pressure ³²	HP:0002516
10	hypertonia ³²	HP:0001276
11	hypertriglyceridemia ³²	HP:0002155
12	anemia ³²	HP:0001903
13	irritability ³²	HP:0000737
14	thrombocytopenia ³²	HP:0001873
15	jaundice ³²	HP:0000952
16	coma ³²	HP:0001259
17	hyponatremia ³²	HP:0002902
18	meningitis ³²	HP:0001287
19	lymphadenopathy ³²	HP:0002716
20	hemiplegia ³²	HP:0002301
21	generalized hypotonia ³²	HP:0001290
22	increased serum ferritin ³²	HP:0003281
23	leukopenia ³²	HP:0001882
24	prolonged prothrombin time ³²	HP:0008151
25	increased csf protein ³²	HP:0002922
26	hypoalbuminemia ³²	HP:0003073
27	hypoproteinemia ³²	HP:0003075
28	csf pleocytosis ³²	HP:0012229
29	increased total bilirubin ³²	HP:0003573
30	generalized edema ³²	HP:0007430
31	hemophagocytosis ³²	HP:0012156
32	hypofibrinogenemia ³²	HP:0011900

UMLS symptoms related to Hemophagocytic Lymphohistiocytosis, Familial, 2:

seizures, ataxia, hemiplegia, bulging fontanelle, icterus

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Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis, Familial, 2

Search Clinical Trials , NIH Clinical Center for Hemophagocytic Lymphohistiocytosis, Familial, 2

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Genetic Tests for Hemophagocytic Lymphohistiocytosis, Familial, 2

Genetic tests related to Hemophagocytic Lymphohistiocytosis, Familial, 2:

#	Genetic test	Affiliating Genes
1	Hemophagocytic Lymphohistiocytosis, Familial, 2 ²⁹	PRF1

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Anatomical Context for Hemophagocytic Lymphohistiocytosis, Familial, 2

MalaCards organs/tissues related to Hemophagocytic Lymphohistiocytosis, Familial, 2:

⁴¹

T Cells, Bone, Liver, Lymph Node, Spleen, Bone Marrow, Nk Cells

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Publications for Hemophagocytic Lymphohistiocytosis, Familial, 2

Articles related to Hemophagocytic Lymphohistiocytosis, Familial, 2:

#	Title	Authors	Year
1	Bone marrow derived mesenchymal stem cells ameliorate inflammatory response in an in vitro model of familial hemophagocytic lymphohistiocytosis 2. ( 30021624 )	Sevim H...G?rp?nar ?A	2018

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Genes for Hemophagocytic Lymphohistiocytosis, Familial, 2

Genes related to Hemophagocytic Lymphohistiocytosis, Familial, 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PRF1	Perforin 1	Protein Coding	1324.22	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	10583959 20301617 12229880 (more) 15728124 16278825 11179007 15365097 14757862 21234777 23443029 15459303 15659737 12599189 7851014 15342365 27535533 14739222 16720836 17311987 12716377
2	ELMO2	Engulfment And Cell Motility 2	Protein Coding	16.5	DISEASES inferred ¹⁵
3	IFT122	Intraflagellar Transport 122	Protein Coding	15.84	DISEASES inferred ¹⁵
4	WDR35	WD Repeat Domain 35	Protein Coding	15.65	DISEASES inferred ¹⁵
5	FOXD1	Forkhead Box D1	Protein Coding	15.57	DISEASES inferred ¹⁵
6	RETREG1	Reticulophagy Regulator 1	Protein Coding	15.49	DISEASES inferred ¹⁵
7	DOCK1	Dedicator Of Cytokinesis 1	Protein Coding	15.36	DISEASES inferred ¹⁵

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Variations for Hemophagocytic Lymphohistiocytosis, Familial, 2

UniProtKB/Swiss-Prot genetic disease variations for Hemophagocytic Lymphohistiocytosis, Familial, 2:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	PRF1	p.Val183Gly	VAR_010744	rs104894183
2	PRF1	p.Arg225Trp	VAR_010745	rs28933973
3	PRF1	p.Asn252Ser	VAR_010746	rs28933375
4	PRF1	p.Cys279Tyr	VAR_010747	rs104894182
5	PRF1	p.Pro345Leu	VAR_010748	rs28933374
6	PRF1	p.Gly429Glu	VAR_010749	rs104894181
7	PRF1	p.Val50Met	VAR_010772
8	PRF1	p.Ile224Asn	VAR_010774

ClinVar genetic disease variations for Hemophagocytic Lymphohistiocytosis, Familial, 2:

⁶ (show top 50) (show all 141)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PRF1	PRF1, 1-BP DEL, 50T	deletion	Pathogenic
2	PRF1	NM_001083116.2(PRF1): c.1122G> A (p.Trp374Ter)	single nucleotide variant	Pathogenic	rs104894176	GRCh37	Chromosome 10, 72358355: 72358355
3	PRF1	NM_001083116.2(PRF1): c.1122G> A (p.Trp374Ter)	single nucleotide variant	Pathogenic	rs104894176	GRCh38	Chromosome 10, 70598599: 70598599
4	PRF1	NM_001083116.2(PRF1): c.190C> T (p.Gln64Ter)	single nucleotide variant	Pathogenic	rs104894180	GRCh37	Chromosome 10, 72360469: 72360469
5	PRF1	NM_001083116.2(PRF1): c.190C> T (p.Gln64Ter)	single nucleotide variant	Pathogenic	rs104894180	GRCh38	Chromosome 10, 70600713: 70600713
6	PRF1	NM_001083116.2(PRF1): c.673C> T (p.Arg225Trp)	single nucleotide variant	Pathogenic	rs28933973	GRCh37	Chromosome 10, 72358804: 72358804
7	PRF1	NM_001083116.2(PRF1): c.673C> T (p.Arg225Trp)	single nucleotide variant	Pathogenic	rs28933973	GRCh38	Chromosome 10, 70599048: 70599048
8	PRF1	NM_001083116.2(PRF1): c.1286G> A (p.Gly429Glu)	single nucleotide variant	Pathogenic	rs104894181	GRCh37	Chromosome 10, 72358191: 72358191
9	PRF1	NM_001083116.2(PRF1): c.1286G> A (p.Gly429Glu)	single nucleotide variant	Pathogenic	rs104894181	GRCh38	Chromosome 10, 70598435: 70598435
10	PRF1	NM_001083116.2(PRF1): c.1034C> T (p.Pro345Leu)	single nucleotide variant	Pathogenic	rs28933374	GRCh37	Chromosome 10, 72358443: 72358443
11	PRF1	NM_001083116.2(PRF1): c.1034C> T (p.Pro345Leu)	single nucleotide variant	Pathogenic	rs28933374	GRCh38	Chromosome 10, 70598687: 70598687
12	PRF1	NM_001083116.2(PRF1): c.836G> A (p.Cys279Tyr)	single nucleotide variant	Pathogenic	rs104894182	GRCh37	Chromosome 10, 72358641: 72358641
13	PRF1	NM_001083116.2(PRF1): c.836G> A (p.Cys279Tyr)	single nucleotide variant	Pathogenic	rs104894182	GRCh38	Chromosome 10, 70598885: 70598885
14	PRF1	NM_001083116.2(PRF1): c.548T> G (p.Val183Gly)	single nucleotide variant	Pathogenic	rs104894183	GRCh37	Chromosome 10, 72358929: 72358929
15	PRF1	NM_001083116.2(PRF1): c.548T> G (p.Val183Gly)	single nucleotide variant	Pathogenic	rs104894183	GRCh38	Chromosome 10, 70599173: 70599173
16	PRF1	NM_001083116.2(PRF1): c.755A> G (p.Asn252Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs28933375	GRCh37	Chromosome 10, 72358722: 72358722
17	PRF1	NM_001083116.2(PRF1): c.755A> G (p.Asn252Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs28933375	GRCh38	Chromosome 10, 70598966: 70598966
18	PRF1	NM_001083116.2(PRF1): c.1304C> T (p.Thr435Met)	single nucleotide variant	Pathogenic	rs28933376	GRCh37	Chromosome 10, 72358173: 72358173
19	PRF1	NM_001083116.2(PRF1): c.1304C> T (p.Thr435Met)	single nucleotide variant	Pathogenic	rs28933376	GRCh38	Chromosome 10, 70598417: 70598417
20	PRF1	NM_001083116.2(PRF1): c.272C> T (p.Ala91Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs35947132	GRCh37	Chromosome 10, 72360387: 72360387
21	PRF1	NM_001083116.2(PRF1): c.272C> T (p.Ala91Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs35947132	GRCh38	Chromosome 10, 70600631: 70600631
22	PRF1	NM_001083116.2(PRF1): c.11G> A (p.Arg4His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs35418374	GRCh37	Chromosome 10, 72360648: 72360648
23	PRF1	NM_001083116.2(PRF1): c.11G> A (p.Arg4His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs35418374	GRCh38	Chromosome 10, 70600892: 70600892
24	PRF1	NM_001083116.2(PRF1): c.1090_1091delCT (p.Leu364Glufs)	deletion	Pathogenic	rs771552960	GRCh38	Chromosome 10, 70598630: 70598631
25	PRF1	NM_001083116.2(PRF1): c.1090_1091delCT (p.Leu364Glufs)	deletion	Pathogenic	rs771552960	GRCh37	Chromosome 10, 72358386: 72358387
26	PRF1	NM_001083116.2(PRF1): c.207delC (p.Asp70Thrfs)	deletion	Pathogenic	rs786205093	GRCh37	Chromosome 10, 72360452: 72360452
27	PRF1	NM_001083116.2(PRF1): c.207delC (p.Asp70Thrfs)	deletion	Pathogenic	rs786205093	GRCh38	Chromosome 10, 70600696: 70600696
28	PRF1	NM_001083116.2(PRF1): c.1246C> T (p.Gln416Ter)	single nucleotide variant	Pathogenic	rs193302876	GRCh37	Chromosome 10, 72358231: 72358231
29	PRF1	NM_001083116.2(PRF1): c.1246C> T (p.Gln416Ter)	single nucleotide variant	Pathogenic	rs193302876	GRCh38	Chromosome 10, 70598475: 70598475
30	PRF1	NM_005041.5(PRF1): c.1337A> C (p.Gln446Pro)	single nucleotide variant	Likely pathogenic	rs751161742	GRCh38	Chromosome 10, 70598384: 70598384
31	PRF1	NM_005041.5(PRF1): c.1337A> C (p.Gln446Pro)	single nucleotide variant	Likely pathogenic	rs751161742	GRCh37	Chromosome 10, 72358140: 72358140
32	PRF1	NM_001083116.2(PRF1): c.900C> T (p.His300=)	single nucleotide variant	Benign	rs885822	GRCh37	Chromosome 10, 72358577: 72358577
33	PRF1	NM_001083116.2(PRF1): c.900C> T (p.His300=)	single nucleotide variant	Benign	rs885822	GRCh38	Chromosome 10, 70598821: 70598821
34	PRF1	NM_001083116.2(PRF1): c.807C> T (p.His269=)	single nucleotide variant	Benign/Likely benign	rs147453010	GRCh37	Chromosome 10, 72358670: 72358670
35	PRF1	NM_001083116.2(PRF1): c.807C> T (p.His269=)	single nucleotide variant	Benign/Likely benign	rs147453010	GRCh38	Chromosome 10, 70598914: 70598914
36	PRF1	NM_001083116.2(PRF1): c.726C> T (p.Cys242=)	single nucleotide variant	Benign/Likely benign	rs35329429	GRCh38	Chromosome 10, 70598995: 70598995
37	PRF1	NM_001083116.2(PRF1): c.726C> T (p.Cys242=)	single nucleotide variant	Benign/Likely benign	rs35329429	GRCh37	Chromosome 10, 72358751: 72358751
38	PRF1	NM_001083116.2(PRF1): c.630C> T (p.Pro210=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144004164	GRCh38	Chromosome 10, 70599091: 70599091
39	PRF1	NM_001083116.2(PRF1): c.630C> T (p.Pro210=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144004164	GRCh37	Chromosome 10, 72358847: 72358847
40	PRF1	NM_001083116.2(PRF1): c.528C> T (p.Cys176=)	single nucleotide variant	Benign/Likely benign	rs138588977	GRCh38	Chromosome 10, 70600375: 70600375
41	PRF1	NM_001083116.2(PRF1): c.528C> T (p.Cys176=)	single nucleotide variant	Benign/Likely benign	rs138588977	GRCh37	Chromosome 10, 72360131: 72360131
42	PRF1	NM_001083116.2(PRF1): c.462A> G (p.Ala154=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs116554195	GRCh38	Chromosome 10, 70600441: 70600441
43	PRF1	NM_001083116.2(PRF1): c.462A> G (p.Ala154=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs116554195	GRCh37	Chromosome 10, 72360197: 72360197
44	PRF1	NM_001083116.2(PRF1): c.435G> A (p.Val145=)	single nucleotide variant	Benign	rs115281140	GRCh37	Chromosome 10, 72360224: 72360224
45	PRF1	NM_001083116.2(PRF1): c.435G> A (p.Val145=)	single nucleotide variant	Benign	rs115281140	GRCh38	Chromosome 10, 70600468: 70600468
46	PRF1	NM_001083116.2(PRF1): c.666C> A (p.His222Gln)	single nucleotide variant	Pathogenic	rs751247865	GRCh37	Chromosome 10, 72358811: 72358811
47	PRF1	NM_001083116.2(PRF1): c.666C> A (p.His222Gln)	single nucleotide variant	Pathogenic	rs751247865	GRCh38	Chromosome 10, 70599055: 70599055
48	PRF1	NM_001083116.2(PRF1): c.1310C> T (p.Ala437Val)	single nucleotide variant	Uncertain significance	rs138126912	GRCh37	Chromosome 10, 72358167: 72358167
49	PRF1	NM_001083116.2(PRF1): c.1310C> T (p.Ala437Val)	single nucleotide variant	Uncertain significance	rs138126912	GRCh38	Chromosome 10, 70598411: 70598411
50	PRF1	NM_001083116.2(PRF1): c.1120T> G (p.Trp374Gly)	single nucleotide variant	Likely pathogenic	rs1060499556	GRCh37	Chromosome 10, 72358357: 72358357

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Expression for Hemophagocytic Lymphohistiocytosis, Familial, 2

Search GEO for disease gene expression data for Hemophagocytic Lymphohistiocytosis, Familial, 2.

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Pathways for Hemophagocytic Lymphohistiocytosis, Familial, 2

Pathways related to Hemophagocytic Lymphohistiocytosis, Familial, 2 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Signaling by PTK6 ⁶⁶ Show member pathways PTK6 Activates STAT3 ⁶⁶ PTK6 Down-Regulation ⁶⁶ PTK6 Expression ⁶⁶ PTK6 promotes HIF1A stabilization ⁶⁶ PTK6 Regulates Proteins Involved in RNA Processing ⁶⁶ PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases ⁶⁶ PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1 ⁶⁶ RAS signaling downstream of NF1 loss-of-function variants ⁶⁶	11.37	DOCK1 ELMO2
2	Bacterial invasion of epithelial cells ³⁷	11.02	DOCK1 ELMO2
3	Shigellosis ³⁷	10.77	DOCK1 ELMO2
4	Intraflagellar transport ⁶⁶	10.24	IFT122 WDR35

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GO Terms for Hemophagocytic Lymphohistiocytosis, Familial, 2

Cellular components related to Hemophagocytic Lymphohistiocytosis, Familial, 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ciliary basal body	GO:0036064	9.16	IFT122 WDR35
2	ciliary tip	GO:0097542	8.96	IFT122 WDR35
3	intraciliary transport particle A	GO:0030991	8.62	IFT122 WDR35

Biological processes related to Hemophagocytic Lymphohistiocytosis, Familial, 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	apoptotic process	GO:0006915	9.58	DOCK1 ELMO2 PRF1
2	Fc-gamma receptor signaling pathway involved in phagocytosis	GO:0038096	9.37	DOCK1 ELMO2
3	phagocytosis	GO:0006909	9.32	DOCK1 ELMO2
4	vascular endothelial growth factor receptor signaling pathway	GO:0048010	9.26	DOCK1 ELMO2
5	intraciliary transport involved in cilium assembly	GO:0035735	9.16	IFT122 WDR35
6	protein localization to cilium	GO:0061512	8.96	IFT122 WDR35
7	intraciliary retrograde transport	GO:0035721	8.62	IFT122 WDR35

Molecular functions related to Hemophagocytic Lymphohistiocytosis, Familial, 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	SH3 domain binding	GO:0017124	8.62	DOCK1 ELMO2

Sources

Sources for Hemophagocytic Lymphohistiocytosis, Familial, 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Hemophagocytic Lymphohistiocytosis, Familial, 2 (FHL2)

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial, 2

MalaCards integrated aliases for Hemophagocytic Lymphohistiocytosis, Familial, 2:

Characteristics:

OMIM:

HPO:

Classifications:

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Summaries for Hemophagocytic Lymphohistiocytosis, Familial, 2

Related Diseases for Hemophagocytic Lymphohistiocytosis, Familial, 2

Diseases in the Hemophagocytic Lymphohistiocytosis family:

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Symptoms & Phenotypes for Hemophagocytic Lymphohistiocytosis, Familial, 2

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Clinical features from OMIM:

Human phenotypes related to Hemophagocytic Lymphohistiocytosis, Familial, 2:

UMLS symptoms related to Hemophagocytic Lymphohistiocytosis, Familial, 2:

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Genetic Tests for Hemophagocytic Lymphohistiocytosis, Familial, 2

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Anatomical Context for Hemophagocytic Lymphohistiocytosis, Familial, 2

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Genes for Hemophagocytic Lymphohistiocytosis, Familial, 2

Genes related to Hemophagocytic Lymphohistiocytosis, Familial, 2 (1 elite genes):

Variations for Hemophagocytic Lymphohistiocytosis, Familial, 2

UniProtKB/Swiss-Prot genetic disease variations for Hemophagocytic Lymphohistiocytosis, Familial, 2:

ClinVar genetic disease variations for Hemophagocytic Lymphohistiocytosis, Familial, 2:

Expression for Hemophagocytic Lymphohistiocytosis, Familial, 2

Pathways for Hemophagocytic Lymphohistiocytosis, Familial, 2

Pathways related to Hemophagocytic Lymphohistiocytosis, Familial, 2 according to GeneCards Suite gene sharing:

GO Terms for Hemophagocytic Lymphohistiocytosis, Familial, 2

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