Familial hemophagocytic lymphohistiocytosis

General Information (adopted from Orphanet):

Synonyms, Signs: Familial HLH
Number of Symptoms 37
OrphanetNr: 540
OMIM Id: 267700
603552
603553
608898
613101
ICD-10: D76.1
UMLs:
MeSH:
MedDRA:
Snomed: 398250003

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Infancy
Adolescent
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Brain inflammatory disease
 -Rare neurologic disease
Primary hemophagocytic lymphohistiocytosis
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0001259) Coma 65 / 7739
2
 (HPO:0002383) Encephalitis 41 / 7739
3
 (HPO:0001263) Global developmental delay 853 / 7739
4
 (HPO:0001250) Seizures 1245 / 7739
5
 (HPO:0002516) Increased intracranial pressure 47 / 7739
6
 (HPO:0002922) Increased CSF protein 27 / 7739
7
 (HPO:0002301) Hemiplegia 42 / 7739
8
 (HPO:0000737) Irritability 93 / 7739
9
 (HPO:0002445) Tetraplegia 26 / 7739
10
 (HPO:0001251) Ataxia 413 / 7739
11
 (HPO:0012229) CSF pleocytosis 5 / 7739
12
 (HPO:0001276) Hypertonia 317 / 7739
13
 (HPO:0001287) Meningitis 46 / 7739
14
 (HPO:0000952) Jaundice 105 / 7739
15
 (HPO:0001744) Splenomegaly 337 / 7739
16
 (HPO:0002240) Hepatomegaly 467 / 7739
17
 (HPO:0001508) Failure to thrive 454 / 7739
18
 (HPO:0001873) Thrombocytopenia 224 / 7739
19
 (HPO:0011900) Hypofibrinogenemia 8 / 7739
20
 (HPO:0008151) Prolonged prothrombin time 13 / 7739
21
 (HPO:0012156) Hemophagocytosis 9 / 7739
22
 (HPO:0003645) Prolonged partial thromboplastin time 20 / 7739
23
 (HPO:0001882) Leukopenia 51 / 7739
24
 (HPO:0001903) Anemia 289 / 7739
25
 (HPO:0003073) Hypoalbuminemia 40 / 7739
26
 (HPO:0003233) Hypoalphalipoproteinemia 18 / 7739
27
 (HPO:0002155) Hypertriglyceridemia 67 / 7739
28
 (HPO:0002902) Hyponatremia 37 / 7739
29
 (HPO:0003281) Increased serum ferritin 32 / 7739
30
 (HPO:0003141) Hyperbetalipoproteinemia 10 / 7739
31
 (HPO:0003075) Hypoproteinemia 27 / 7739
32
 (HPO:0003362) Increased circulating very-low-density lipoprotein cholesterol 9 / 7739
33
 (HPO:0003573) Increased total bilirubin 10 / 7739
34
 (HPO:0007430) Generalized edema 5 / 7739
35
 (HPO:0002716) Lymphadenopathy 129 / 7739
36
 (HPO:0001252) Muscular hypotonia 990 / 7739
37
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: