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Familial hemophagocytic lymphohistiocytosis
5 OMIM references -
4 associated genes
45 connected diseases
No signs/symptoms info
Disease Type of connection
Fatal post-viral neurodegenerative disorder
Idiopathic aplastic anemia
Cystic fibrosis
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Griscelli disease type 2
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Herpetic encephalitis
Hutchinson-Gilford progeria syndrome
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
MMEP syndrome
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Synonym(s):
- Familial HLH
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
5 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
PRF1 P14222170280
STX11 O75558605014
STXBP2 Q15833601717
UNC13D Q70J99608897
No signs/symptoms info available.