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Autoimmune lymphoproliferative syndrome
3 OMIM references -
5 associated genes
181 connected diseases
No signs/symptoms info
Disease Type of connection
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Noonan syndrome
Autosomal recessive systemic lupus erythematosus
Common variable immunodeficiency
Juvenile myelomonocytic leukemia
Large congenital melanocytic nevus
Intermittent hydrarthrosis
TRAPS syndrome
Autoimmune lymphoproliferative syndrome with recurrent infections
FADD-related immunodeficiency
Oculootodental syndrome
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Hemimegalencephaly
Chronic granulomatous disease
Pilocytic astrocytoma
Severe combined immunodeficiency due to LCK deficiency
Squamous cell carcinoma of head and neck
Amyotrophic lateral sclerosis
Giant cell glioblastoma
Gliosarcoma
CLOVE syndrome
Cowden syndrome
Hereditary nonpolyposis colon cancer
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
LEOPARD syndrome
Acute promyelocytic leukemia
Juvenile myoclonic epilepsy
Pediatric systemic lupus erythematosus
Precursor B-cell acute lymphoblastic leukemia
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
Familial isolated dilated cardiomyopathy
Familial pancreatic carcinoma
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Junctional epidermolysis bullosa - pyloric atresia
Pyogenic arthritis - pyoderma gangrenosum - acne
Autosomal dominant hyper-IgE syndrome
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Leprechaunism
Rabson-Mendenhall syndrome
Chronic mucocutaneous candidiasis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Noonan syndrome-like disorder with loose anagen hair
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Autosomal agammaglobulinemia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Bartsocas-Papas syndrome
SHORT syndrome
Fibronectin glomerulopathy
Autosomal recessive lymphoproliferative disease
Cone rod dystrophy
Pyruvate dehydrogenase phosphatase deficiency
Berardinelli-Seip congenital lipodystrophy
Childhood absence epilepsy
Chuvash erythrocytosis
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Von Hippel-Lindau disease
Catecholaminergic polymorphic ventricular tachycardia
Giant cell arteritis
Granulomatosis with polyangiitis
Hereditary cerebral cavernous malformation
Intellectual deficiency - hypotonia - spasticity - sleep disorder
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Episodic ataxia type 5
Frank-Ter Haar syndrome
Hereditary spherocytosis
Marie Unna hereditary hypotrichosis
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
ADULT syndrome
Adrenocortical carcinoma
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Ankyloblepharon - ectodermal defects - cleft lip / palate
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant methemoglobinemia
Autosomal recessive limb-girdle muscular dystrophy type 2G
B-cell chronic lymphocytic leukemia
Blackfan-Diamond anemia
Bladder exstrophy
Chronic myeloid leukemia
Classical progressive supranuclear palsy
Dedifferentiated liposarcoma
Distal hereditary motor neuropathy type 2
EEC syndrome
Essential thrombocythemia
Hb Bart's hydrops fetalis
Hemoglobin H disease
Hereditary chronic pancreatitis
Hyperlipoproteinemia type 4
Hyperlipoproteinemia type 5
Li-Fraumeni syndrome
Limb-mammary syndrome
Papilloma of choroid plexus
Parkinsonian-pyramidal syndrome
Precursor T-cell acute lymphoblastic leukemia
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Severe X-linked mitochondrial encephalomyopathy
Split hand-split foot malformation
Well-differentiated liposarcoma
X-linked Charcot-Marie-Tooth disease type 4
X-linked hypohidrotic ectodermal dysplasia
Young adult-onset Parkinsonism
Adult-onset distal myopathy due to VCP mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant nonsyndromic intellectual deficit
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
Herpetic encephalitis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Spastic paraplegia - Paget disease of bone
Spinocerebellar ataxia type 15 / 16
Spinocerebellar ataxia type 29
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Childhood-onset nemaline myopathy
Cleidocranial dysplasia
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Epidermolysis bullosa simplex with pyloric atresia
Familial papillary renal cell carcinoma
Familial retinoblastoma
Generalized junctional epidermolysis bullosa, non-Herlitz type
Hepatocellular carcinoma, childhood-onset
Intermediate nemaline myopathy
Leukocyte adhesion deficiency type I
Localized junctional epidermolysis bullosa, non-Herlitz type
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Monosomy 13q14
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Severe congenital nemaline myopathy
Typical nemaline myopathy
Unilateral retinoblastoma
Adult-onset autosomal dominant leukodystrophy
Baraitser-Winter syndrome
Becker muscular dystrophy
Developmental malformations - deafness - dystonia
Distal 22q11.2 microdeletion syndrome
Duchenne muscular dystrophy
Early infantile epileptic encephalopathy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial thoracic aortic aneurysm and aortic dissection
Fibrodysplasia ossificans progressiva
Follicular lymphoma
Generalized juvenile polyposis / juvenile polyposis coli
Growth delay due to insulin-like growth factor I resistance
Hereditary hemorrhagic telangiectasia
Idiopathic pulmonary fibrosis
Intravascular large B-cell lymphoma
Keratosis palmoplantaris striata
Lethal acantholytic epidermolysis bullosa
Malignant migrating partial seizures of infancy
Moyamoya disease
Myhre syndrome
Partial acquired lipodystrophy
Presynaptic congenital myasthenic syndromes
Severe combined immunodeficiency due to DNA-PKcs deficiency
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Aicardi-Goutières syndrome
Synonym(s):
- ALPS
- Canale-Smith syndrome
- FAS deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
- Rare immune disease
- Rare oncologic 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: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
1 MeSH reference: D056735
No signs/symptoms info available.