FEL
MCID: HMP022
MIFTS: 46

Hemophagocytic Lymphohistiocytosis, Familial, 1 (FEL)

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

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial, 1

MalaCards integrated aliases for Hemophagocytic Lymphohistiocytosis, Familial, 1:

Name: Hemophagocytic Lymphohistiocytosis, Familial, 1 58 13
Familial Hemophagocytic Lymphohistiocytosis 1 12 30 15
Hemophagocytic Lymphohistiocytosis, Familial 58 25
Hplh1 58 12
Fhl1 58 12
Hlh1 58 12
Hemophagocytic Lymphohistiocytosis, Familial; Fhl; Fhlh; Hplh 58
Erythrophagocytic Lymphohistiocytosis, Familial; Fel 58
Erythrophagocytic Lymphohistiocytosis, Familial 58
Familial Erythrophagocytic Lymphohistiocytosis 25
Familial Hemophagocytic Lymphocytosis 74
Hemophagocytic Reticulosis, Familial 58
Reticulosis, Familial Histiocytic 58
Fhlh 25
Fhl 58
Fel 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
hemophagocytic lymphohistiocytosis, familial, 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hemophagocytic Lymphohistiocytosis, Familial, 1

OMIM : 58 Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999). (267700)

MalaCards based summary : Hemophagocytic Lymphohistiocytosis, Familial, 1, also known as familial hemophagocytic lymphohistiocytosis 1, is related to hemophagocytic lymphohistiocytosis, familial, 2 and hemophagocytic lymphohistiocytosis, familial, 4, and has symptoms including seizures, ataxia and hemiplegia. An important gene associated with Hemophagocytic Lymphohistiocytosis, Familial, 1 is FHL1 (Four And A Half LIM Domains 1), and among its related pathways/superpathways are C-MYB transcription factor network and Myogenesis. Affiliated tissues include t cells, liver and bone, and related phenotypes are seizures and ataxia

Disease Ontology : 12 A hemophagocytic lymphohistiocytosis that has material basis in an autosomal recessive mutation of HPLH1 on chromosome 9q21.3-q22.

GeneReviews: NBK1444

Related Diseases for Hemophagocytic Lymphohistiocytosis, Familial, 1

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, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 hemophagocytic lymphohistiocytosis, familial, 2 33.0 ELMO2 IFT122 WDR35
2 hemophagocytic lymphohistiocytosis, familial, 4 12.5
3 hemophagocytic lymphohistiocytosis, familial, 3 12.5
4 hemophagocytic lymphohistiocytosis, familial, 5 12.5
5 myopathy, x-linked, with postural muscle atrophy 12.1
6 reducing body myopathy 12.1
7 scapuloperoneal myopathy, x-linked dominant 11.9
8 emery-dreifuss muscular dystrophy 11.7
9 myopathy 11.7
10 muscular dystrophy 11.7
11 scapuloperoneal myopathy 11.6
12 muscle hypertrophy 11.6
13 hypertrophic cardiomyopathy 11.5
14 pulmonary artery hypoplasia 11.4
15 uruguay faciocardiomusculoskeletal syndrome 11.4
16 reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset 11.4
17 reducing body myopathy, x-linked 1b, with late childhood or adult onset 11.4
18 hemophagocytic lymphohistiocytosis 11.3
19 perrault syndrome 1 11.1
20 scoliosis 11.1
21 foot drop 11.1
22 virus associated hemophagocytic syndrome 11.1
23 emery-dreifuss muscular dystrophy, x-linked 11.0
24 lung cancer 10.6
25 body mass index quantitative trait locus 1 10.2
26 squamous cell carcinoma 10.1
27 histiocytosis 10.1
28 malignant histiocytosis 10.1
29 hemophagocytic syndrome associated with an infection 10.1
30 chromophobe renal cell carcinoma 10.1
31 polycystic kidney disease 10.1
32 tendinopathy 10.1
33 tendinitis 10.1
34 tendinosis 10.1
35 central nervous system mesenchymal non-meningothelial tumor 10.1 MYF6 MYOD1
36 rigid spine muscular dystrophy 1 10.1
37 gastric cancer 10.1
38 myofibrillar myopathy 10.1
39 inflammatory leiomyosarcoma 10.0 MYF6 MYOD1
40 conventional leiomyosarcoma 10.0 MYF6 MYOD1
41 radin blood group antigen 10.0
42 diabetes mellitus, noninsulin-dependent 10.0
43 pancreatic cancer 10.0
44 asthma 10.0
45 allergic rhinitis 10.0
46 rhinitis 10.0
47 extraosseous ewing's sarcoma 10.0 MYF6 MYOD1
48 atrial standstill 1 9.9
49 hepatocellular carcinoma 9.9
50 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.9

Graphical network of the top 20 diseases related to Hemophagocytic Lymphohistiocytosis, Familial, 1:



Diseases related to Hemophagocytic Lymphohistiocytosis, Familial, 1

Symptoms & Phenotypes for Hemophagocytic Lymphohistiocytosis, Familial, 1

Human phenotypes related to Hemophagocytic Lymphohistiocytosis, Familial, 1:

33 (show all 37)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 ataxia 33 HP:0001251
3 muscular hypotonia 33 HP:0001252
4 failure to thrive 33 HP:0001508
5 encephalitis 33 HP:0002383
6 tetraplegia 33 HP:0002445
7 global developmental delay 33 HP:0001263
8 splenomegaly 33 HP:0001744
9 hepatomegaly 33 HP:0002240
10 increased intracranial pressure 33 HP:0002516
11 hypertonia 33 HP:0001276
12 hypertriglyceridemia 33 HP:0002155
13 anemia 33 HP:0001903
14 irritability 33 HP:0000737
15 thrombocytopenia 33 HP:0001873
16 jaundice 33 HP:0000952
17 coma 33 HP:0001259
18 hyponatremia 33 HP:0002902
19 meningitis 33 HP:0001287
20 lymphadenopathy 33 HP:0002716
21 hemiplegia 33 HP:0002301
22 generalized hypotonia 33 HP:0001290
23 increased serum ferritin 33 HP:0003281
24 leukopenia 33 HP:0001882
25 prolonged partial thromboplastin time 33 HP:0003645
26 prolonged prothrombin time 33 HP:0008151
27 increased csf protein 33 HP:0002922
28 hypoalbuminemia 33 HP:0003073
29 increased total bilirubin 33 HP:0003573
30 hypoproteinemia 33 HP:0003075
31 csf pleocytosis 33 HP:0012229
32 generalized edema 33 HP:0007430
33 hemophagocytosis 33 HP:0012156
34 hypofibrinogenemia 33 HP:0011900
35 decreased hdl cholesterol concentration 33 HP:0003233
36 increased ldl cholesterol concentration 33 HP:0003141
37 increased vldl cholesterol concentration 33 HP:0003362

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
ataxia
encephalitis
tetraplegia
increased intracranial pressure
more
Abdomen Spleen:
splenomegaly

Laboratory Abnormalities:
hypertriglyceridemia
hyponatremia
prolonged prothrombin time
hypoalbuminemia
increased total bilirubin
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:

267700

UMLS symptoms related to Hemophagocytic Lymphohistiocytosis, Familial, 1:


seizures, ataxia, hemiplegia, icterus, bulging fontanelle

MGI Mouse Phenotypes related to Hemophagocytic Lymphohistiocytosis, Familial, 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.26 FHL1 MYF6 MYOD1 WDR35
2 respiratory system MP:0005388 8.92 MYF6 MYOD1 STXBP2 WDR35

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis, Familial, 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Investigation of the Role of FHL-1 and Myostatin in Intensive Care Unit Acquired Paresis (ICUAP) Completed NCT01321320 Not Applicable

Search NIH Clinical Center for Hemophagocytic Lymphohistiocytosis, Familial, 1

Genetic Tests for Hemophagocytic Lymphohistiocytosis, Familial, 1

Genetic tests related to Hemophagocytic Lymphohistiocytosis, Familial, 1:

# Genetic test Affiliating Genes
1 Familial Hemophagocytic Lymphohistiocytosis 1 30

Anatomical Context for Hemophagocytic Lymphohistiocytosis, Familial, 1

MalaCards organs/tissues related to Hemophagocytic Lymphohistiocytosis, Familial, 1:

42
T Cells, Liver, Bone, Lymph Node, Spleen, Bone Marrow

Publications for Hemophagocytic Lymphohistiocytosis, Familial, 1

Articles related to Hemophagocytic Lymphohistiocytosis, Familial, 1:

# Title Authors Year
1
Hemophagocytic Lymphohistiocytosis, Familial ( 20301617 )
1993

Variations for Hemophagocytic Lymphohistiocytosis, Familial, 1

Expression for Hemophagocytic Lymphohistiocytosis, Familial, 1

Search GEO for disease gene expression data for Hemophagocytic Lymphohistiocytosis, Familial, 1.

Pathways for Hemophagocytic Lymphohistiocytosis, Familial, 1

Pathways related to Hemophagocytic Lymphohistiocytosis, Familial, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.05 MYF6 MYOD1
2
Show member pathways
10.72 MYF6 MYOD1
3 10.24 IFT122 WDR35

GO Terms for Hemophagocytic Lymphohistiocytosis, Familial, 1

Cellular components related to Hemophagocytic Lymphohistiocytosis, Familial, 1 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, 1 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.81 FHL1 IFT122 MYF6 MYOD1
2 cellular response to tumor necrosis factor GO:0071356 9.52 MYOD1 WDR35
3 skeletal muscle tissue development GO:0007519 9.49 MYF6 MYOD1
4 skeletal muscle cell differentiation GO:0035914 9.48 MYF6 MYOD1
5 intraciliary transport involved in cilium assembly GO:0035735 9.46 IFT122 WDR35
6 protein localization to cilium GO:0061512 9.43 IFT122 WDR35
7 positive regulation of muscle cell differentiation GO:0051149 9.4 MYF6 MYOD1
8 positive regulation of myoblast differentiation GO:0045663 9.37 MYF6 MYOD1
9 positive regulation of myoblast fusion GO:1901741 9.32 MYF6 MYOD1
10 intraciliary retrograde transport GO:0035721 9.26 IFT122 WDR35
11 positive regulation of skeletal muscle fiber development GO:0048743 9.16 MYF6 MYOD1
12 muscle organ development GO:0007517 9.13 FHL1 MYF6 MYOD1
13 muscle cell fate commitment GO:0042693 8.62 MYF6 MYOD1

Molecular functions related to Hemophagocytic Lymphohistiocytosis, Familial, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 E-box binding GO:0070888 8.62 MYF6 MYOD1

Sources for Hemophagocytic Lymphohistiocytosis, Familial, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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