MCID: HMP022
MIFTS: 23

Hemophagocytic Lymphohistiocytosis, Familial, 1 malady

Genetic diseases, Immune diseases, Rare diseases, Blood diseases, Neuronal diseases categories

Summaries for Hemophagocytic Lymphohistiocytosis, Familial, 1

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OMIM:45 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 erythrophagocytic lymphohistiocytosis, is related to hemophagocytic lymphohistiocytosis and hemophagocytic lymphohistiocytosis, familial, 4, and has symptoms including autosomal recessive inheritance, irritability and jaundice. An important gene associated with Hemophagocytic Lymphohistiocytosis, Familial, 1 is FHL1 (four and a half LIM domains 1).

GeneReviews summary for hlh

Aliases & Classifications for Hemophagocytic Lymphohistiocytosis, Familial, 1

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Hemophagocytic Lymphohistiocytosis, Familial, 1, Aliases & Descriptions:

Name: Hemophagocytic Lymphohistiocytosis, Familial, 1 45 10 20
Familial Erythrophagocytic Lymphohistiocytosis 19
Hemophagocytic Lymphohistiocytosis, Familial 19
 
Familial Hemophagocytic Lymphocytosis 60
Fhlh 19


Classifications:



External Ids:

OMIM45 267700

Related Diseases for Hemophagocytic Lymphohistiocytosis, Familial, 1

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



Diseases related to hemophagocytic lymphohistiocytosis, familial, 1

Symptoms for Hemophagocytic Lymphohistiocytosis, Familial, 1

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Symptoms by clinical synopsis from OMIM:

267700

Clinical features from OMIM:

267700

HPO human phenotypes related to Hemophagocytic Lymphohistiocytosis, Familial, 1:

(show all 37)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 irritability HP:0000737
3 jaundice HP:0000952
4 seizures HP:0001250
5 ataxia HP:0001251
6 muscular hypotonia HP:0001252
7 coma HP:0001259
8 global developmental delay HP:0001263
9 hypertonia HP:0001276
10 meningitis HP:0001287
11 failure to thrive HP:0001508
12 splenomegaly HP:0001744
13 thrombocytopenia HP:0001873
14 leukopenia HP:0001882
15 anemia HP:0001903
16 hypertriglyceridemia HP:0002155
17 hepatomegaly HP:0002240
18 hemiplegia HP:0002301
19 encephalitis HP:0002383
20 tetraplegia HP:0002445
21 increased intracranial pressure HP:0002516
22 lymphadenopathy HP:0002716
23 hyponatremia HP:0002902
24 increased csf protein HP:0002922
25 hypoalbuminemia HP:0003073
26 hypoproteinemia HP:0003075
27 hyperbetalipoproteinemia HP:0003141
28 hypoalphalipoproteinemia HP:0003233
29 increased serum ferritin HP:0003281
30 increased circulating very-low-density lipoprotein cholesterol HP:0003362
31 increased total bilirubin HP:0003573
32 prolonged partial thromboplastin time HP:0003645
33 generalized edema HP:0007430
34 prolonged prothrombin time HP:0008151
35 hypofibrinogenemia HP:0011900
36 hemophagocytosis HP:0012156
37 csf pleocytosis HP:0012229

Drugs & Therapeutics for Hemophagocytic Lymphohistiocytosis, Familial, 1

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Drug clinical trials:

Search ClinicalTrials for Hemophagocytic Lymphohistiocytosis, Familial, 1

Search NIH Clinical Center for Hemophagocytic Lymphohistiocytosis, Familial, 1

Genetic Tests for Hemophagocytic Lymphohistiocytosis, Familial, 1

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Genetic tests related to Hemophagocytic Lymphohistiocytosis, Familial, 1:

id Genetic test Affiliating Genes
1 Familial Hemophagocytic Lymphohistiocytosis 120

Anatomical Context for Hemophagocytic Lymphohistiocytosis, Familial, 1

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Animal Models for Hemophagocytic Lymphohistiocytosis, Familial, 1 or affiliated genes

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Publications for Hemophagocytic Lymphohistiocytosis, Familial, 1

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Variations for Hemophagocytic Lymphohistiocytosis, Familial, 1

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Expression for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 1

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

Pathways for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 1

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Compounds for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 1

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GO Terms for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 1

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Products for genes affiliated with Hemophagocytic Lymphohistiocytosis, Familial, 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hemophagocytic Lymphohistiocytosis, Familial, 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet