FHL1
MCID: HMP022
MIFTS: 39

Hemophagocytic Lymphohistiocytosis, Familial, 1 (FHL1) malady

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

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial, 1

Aliases & Descriptions for Hemophagocytic Lymphohistiocytosis, Familial, 1:

Name: Hemophagocytic Lymphohistiocytosis, Familial, 1 54 13
Familial Hemophagocytic Lymphohistiocytosis 1 12 24 29 14
Fhl1 12 24
Familial Erythrophagocytic Lymphohistiocytosis 23
Hemophagocytic Lymphohistiocytosis, Familial 23
Familial Hemophagocytic Lymphocytosis 69
Hplh1 12
Hlh1 12
Fhlh 23

Characteristics:

HPO:

32
hemophagocytic lymphohistiocytosis, familial, 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 267700
Disease Ontology 12 DOID:0110921

Summaries for Hemophagocytic Lymphohistiocytosis, Familial, 1

OMIM : 54 Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal... (267700) more...

MalaCards based summary : Hemophagocytic Lymphohistiocytosis, Familial, 1, also known as familial hemophagocytic lymphohistiocytosis 1, is related to hemophagocytic lymphohistiocytosis, familial, 4 and hemophagocytic lymphohistiocytosis, familial, 2, and has symptoms including ataxia, seizures 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 CDO in myogenesis. The drugs Cyclophosphamide and Busulfan have been mentioned in the context of this disorder.

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, 4 Hemophagocytic Lymphohistiocytosis, Familial, 1
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 all 48)
id Related Disease Score Top Affiliating Genes
1 hemophagocytic lymphohistiocytosis, familial, 4 12.2
2 hemophagocytic lymphohistiocytosis, familial, 2 12.2
3 hemophagocytic lymphohistiocytosis, familial, 3 12.2
4 hemophagocytic lymphohistiocytosis, familial, 5 12.2
5 scapuloperoneal myopathy, x-linked dominant 11.6
6 emery-dreifuss muscular dystrophy 11.4
7 reducing body myopathy 11.4
8 myopathy 11.4
9 scapuloperoneal myopathy 11.3
10 muscle hypertrophy 11.3
11 myofibrillar myopathy 11.2
12 myopathy, x-linked, with postural muscle atrophy 11.1
13 reducing body myopathy, x-linked 1b, with late childhood or adult onset 11.0
14 reducing body myopathy, x-linked 1a, severe, infantile or early childhood onset 11.0
15 emery-dreifuss muscular dystrophy, x-linked 10.9
16 childhood-onset reducing body myopathy, x-linked 10.9
17 early-onset severe reducing body myopathy, x-linked 10.9
18 fhl1-related emery-dreifuss muscular dystrophy, x-linked 10.9
19 fhl1-related myofibrillar myopathy 10.9
20 emery-dreifuss muscular dystrophy 1, x-linked 10.8
21 progressive muscular dystrophy 10.8
22 muscular dystrophy, rigid spine, 1 10.8
23 hemophagocytic lymphohistiocytosis 10.8
24 cardiomyopathy, familial hypertrophic 10.8
25 foot drop 10.8
26 lung cancer 10.3
27 muscular dystrophy 10.1
28 smoking as a quantitative trait locus 1 10.0 ELMO2 IFT122
29 3-hydroxyisobutryl-coa hydrolase deficiency 10.0 FHL1 MYOD1
30 hereditary ataxia 9.9 FHL1 UNC13D
31 myoblastoma 9.9 MYF6 MYOD1
32 kidney sarcoma 9.9 MYF6 MYOD1
33 advanced sleep-phase syndrome, familial, 2 9.9 MYF6 MYOD1
34 mediastinum rhabdomyosarcoma 9.8 MYF6 MYOD1
35 embryonal extrahepatic bile duct rhabdomyosarcoma 9.8 MYF6 MYOD1
36 polycystic kidney disease 9.8
37 chromophobe renal cell carcinoma 9.8
38 gastric cancer 9.8
39 cardiomyopathy 9.8
40 duchenne muscular dystrophy 9.7
41 talipes equinovarus 9.7
42 tongue squamous cell carcinoma 9.7
43 atrial fibrillation 9.7
44 pulmonary artery hypoplasia 9.7
45 clubfoot 9.7
46 prostatitis 9.7
47 squamous cell carcinoma 9.7
48 neu-laxova syndrome 2 9.1 ELMO2 FHL1 IFT122 MYF6 MYOD1 UNC13D

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

Symptoms by clinical synopsis from OMIM:

267700

Clinical features from OMIM:

267700

Human phenotypes related to Hemophagocytic Lymphohistiocytosis, Familial, 1:

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

UMLS symptoms related to Hemophagocytic Lymphohistiocytosis, Familial, 1:


ataxia, hemiplegia, icterus, seizures, bulging fontanelle

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis, Familial, 1

Drugs for Hemophagocytic Lymphohistiocytosis, Familial, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 59)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2,Phase 1 50-18-0, 6055-19-2 2907
2
Busulfan Approved, Investigational Phase 1, Phase 2 55-98-1 2478
3
alemtuzumab Approved, Investigational Phase 2,Phase 1 216503-57-0
4
Cytarabine Approved, Investigational Phase 2 147-94-4 6253
5
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
6
Melphalan Approved Phase 1, Phase 2 148-82-3 4053 460612
7
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
8
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
9
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
10
Thiotepa Approved Phase 1, Phase 2 52-24-4 5453
11 Alkylating Agents Phase 2,Phase 1
12 Anti-Infective Agents Phase 2
13 Antimetabolites Phase 2,Phase 1
14 Antimetabolites, Antineoplastic Phase 2,Phase 1
15 Antineoplastic Agents, Alkylating Phase 2,Phase 1
16 Antirheumatic Agents Phase 2,Phase 1
17 Immunosuppressive Agents Phase 2,Phase 1
18 Calcineurin Inhibitors Phase 1, Phase 2
19 Antiviral Agents Phase 2
20 Antiemetics Phase 1, Phase 2
21 Anti-Inflammatory Agents Phase 1, Phase 2
22 Antineoplastic Agents, Hormonal Phase 1, Phase 2
23 Autonomic Agents Phase 1, Phase 2
24 Gastrointestinal Agents Phase 1, Phase 2
25 glucocorticoids Phase 1, Phase 2
26 Hormone Antagonists Phase 1, Phase 2
27 Hormones Phase 1, Phase 2
28 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
29 Liver Extracts Phase 1, Phase 2
30 Methylprednisolone acetate Phase 1, Phase 2
31 Methylprednisolone Hemisuccinate Phase 1, Phase 2
32 Neuroprotective Agents Phase 1, Phase 2
33 Peripheral Nervous System Agents Phase 1, Phase 2
34 Pharmaceutical Solutions Phase 1, Phase 2
35 Prednisolone acetate Phase 1, Phase 2
36 Prednisolone hemisuccinate Phase 1, Phase 2
37 Prednisolone phosphate Phase 1, Phase 2
38 Protective Agents Phase 1, Phase 2
39
Cyclosporine Approved, Investigational, Vet_approved 79217-60-0, 59865-13-3 5284373 6435893
40
Etoposide Approved 33419-42-0 36462
41
Lenograstim Approved 135968-09-1
42
Methotrexate Approved 1959-05-2, 59-05-2 126941
43
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
44
Prednisone Approved, Vet_approved 53-03-2 5865
45
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
46
leucovorin Approved, Nutraceutical 58-05-9 54575, 6560146 143
47 Antifungal Agents
48 Antilymphocyte Serum
49 Antineoplastic Agents, Phytogenic
50 Dermatologic Agents

Interventional clinical trials:


id Name Status NCT ID Phase
1 T Cell Depletion for Recipients of HLA Haploidentical Related Donor Stem Cell Grafts Recruiting NCT00368355 Phase 2
2 CD34+ (Malignant) Stem Cell Selection for Patients Receiving Allogenic Stem Cell Transplant Recruiting NCT02061800 Phase 1, Phase 2
3 Administration of Donor T Cells With the Caspase-9 Suicide Gene Active, not recruiting NCT01494103 Phase 1
4 CASPALLO: Allodepleted T Cells Transduced With Inducible Caspase 9 Suicide Gene Active, not recruiting NCT00710892 Phase 1
5 Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders Unknown status NCT00006056
6 Investigation of the Role of FHL-1 and Myostatin in Intensive Care Unit Acquired Paresis (ICUAP) Completed NCT01321320
7 CD34+ Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation for Non-Malignant Disease Recruiting NCT01966367
8 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054

Search NIH Clinical Center for Hemophagocytic Lymphohistiocytosis, Familial, 1

Genetic Tests for Hemophagocytic Lymphohistiocytosis, Familial, 1

Genetic tests related to Hemophagocytic Lymphohistiocytosis, Familial, 1:

id Genetic test Affiliating Genes
1 Familial Hemophagocytic Lymphohistiocytosis 1 29 24

Anatomical Context for Hemophagocytic Lymphohistiocytosis, Familial, 1

Publications for Hemophagocytic Lymphohistiocytosis, Familial, 1

Variations for Hemophagocytic Lymphohistiocytosis, Familial, 1

ClinVar genetic disease variations for Hemophagocytic Lymphohistiocytosis, Familial, 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 UNC13D NM_199242.2(UNC13D): c.1389+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs777759523 GRCh37 Chromosome 17, 73832419: 73832419
2 PRF1 NM_001083116.1(PRF1): c.673C> T (p.Arg225Trp) single nucleotide variant Pathogenic rs28933973 GRCh37 Chromosome 10, 72358804: 72358804
3 STXBP2 NM_006949.3(STXBP2): c.1247-1G> C single nucleotide variant Pathogenic rs140148806 GRCh37 Chromosome 19, 7710082: 7710082

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:

id Super pathways Score Top Affiliating Genes
1 10.85 MYF6 MYOD1
2
Show member pathways
10.39 MYF6 MYOD1

GO Terms for Hemophagocytic Lymphohistiocytosis, Familial, 1

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

id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.76 FHL1 IFT122 MYF6 MYOD1
2 phagocytosis GO:0006909 9.48 ELMO2 UNC13D
3 skeletal muscle tissue development GO:0007519 9.43 MYF6 MYOD1
4 skeletal muscle cell differentiation GO:0035914 9.4 MYF6 MYOD1
5 positive regulation of muscle cell differentiation GO:0051149 9.37 MYF6 MYOD1
6 positive regulation of myoblast differentiation GO:0045663 9.32 MYF6 MYOD1
7 positive regulation of myoblast fusion GO:1901741 9.26 MYF6 MYOD1
8 positive regulation of skeletal muscle fiber development GO:0048743 9.16 MYF6 MYOD1
9 muscle organ development GO:0007517 9.13 FHL1 MYF6 MYOD1
10 muscle cell fate commitment GO:0042693 8.62 MYF6 MYOD1

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

id Name GO ID Score Top Affiliating Genes
1 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 9.16 MYF6 MYOD1
2 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 8.96 MYF6 MYOD1
3 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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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