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Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
1 OMIM reference -
1 associated gene
154 connected diseases
No signs/symptoms info
Disease Type of connection
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Precursor T-cell acute lymphoblastic leukemia
Seckel syndrome
MALT lymphoma
Giant cell glioblastoma
Gliosarcoma
B-cell chronic lymphocytic leukemia
Herpetic encephalitis
Acute infantile liver failure-multisystemic involvement syndrome
Blackfan-Diamond anemia
Papillary or follicular thyroid carcinoma
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Inflammatory myofibroblastic tumor
Pediatric systemic lupus erythematosus
Autosomal dominant hypohidrotic ectodermal dysplasia
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Common variable immunodeficiency
Familial cylindromatosis
Familial multiple trichoepithelioma
Amyotrophic lateral sclerosis
Chronic mucocutaneous candidiasis
Persistent polyclonal B-cell lymphocytosis
Severe combined immunodeficiency due to CARD11 deficiency
Ataxia-telangiectasia
Ataxia-telangiectasia variant
Combined cervical dystonia
Mantle cell lymphoma
Cowden syndrome
FADD-related immunodeficiency
Oculootodental syndrome
Proteus syndrome
2p21 microdeletion syndrome
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Benign adult familial myoclonic epilepsy
Intermittent hydrarthrosis
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
TRAPS syndrome
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Young adult-onset Parkinsonism
Burkitt lymphoma
Distal monosomy 12p
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant nonsyndromic intellectual deficit
Autosomal dominant spastic paraplegia type 13
Baraitser-Winter syndrome
Catecholaminergic polymorphic ventricular tachycardia
Chronic intestinal pseudoobstruction
Congenital factor VII deficiency
Congenital lactic acidosis, Saguenay-Lac-St. Jean type
Congenital short bowel syndrome
Congenital valvular dysplasia
Constitutional mismatch repair deficiency syndrome
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Hereditary nonpolyposis colon cancer
Hypomyelination with atrophy of basal ganglia and cerebellum
Lissencephaly due to TUBA1A mutation
Muir-Torre syndrome
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Non-polyposis Turcot syndrome
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Periventricular nodular heterotopia
Polymicrogyria with optic nerve hypoplasia
Primary dystonia, DYT4 type
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
Pulverulent cataract
Severe combined immunodeficiency due to DNA-PKcs deficiency
Terminal osseous dysplasia - pigmentary defects
Translocation renal cell carcinoma
Acute biphenotypic leukemia
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Acute myelomonocytic leukemia
Autosomal recessive lymphoproliferative disease
Autosomal recessive spastic paraplegia type 43
Bilateral renal agenesis
Bilateral renal dysplasia
Dyskeratosis congenita
Familial medullary thyroid carcinoma
Haddad syndrome
Hirschsprung disease
Isolated megalencephaly
Milroy disease
Minimally differentiated acute myeloblastic leukemia
Mucocutaneous venous malformations
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Neuralgic amyotrophy
Neurodegeneration with brain iron accumulation due to C19orf12 mutation
Precursor B-cell acute lymphoblastic leukemia
Severe combined immunodeficiency due to LCK deficiency
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Thrombocytopenia - absent radius
Unilateral renal dysplasia
Acromegaly
Alexander disease type I
Alexander disease type II
Apolipoprotein A-I deficiency
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Autosomal dominant secondary polycythemia
Behçet disease
Blau syndrome
CANDLE syndrome
Congenital dyserythropoietic anemia type III
Familial hemophagocytic lymphohistiocytosis
Familial isolated dilated cardiomyopathy
Familial isolated pituitary adenoma
Follicular lymphoma
Hawkinsinuria
Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Intravascular large B-cell lymphoma
JMP syndrome
Jawad syndrome
Multiple endocrine neoplasia type 1
Muscular dystrophy, Selcen type
Myxoid / round cell liposarcoma
Nakajo-Nishimura syndrome
Neurofibromatosis type 3
Odontoleukodystrophy
Pachyonychia congenita
Pyogenic bacterial infections due to MyD88 deficiency
Sebocystomatosis
Split hand-split foot malformation
Tangier disease
Tyrosinemia type 3
Waldenström macroglobulinemia
ALK-positive anaplastic large cell lymphoma
ALK-positive large B-cell lymphoma
Adenine phosphoribosyltransferase deficiency
Autosomal recessive Robinow syndrome
Brachydactyly type B
Budd-Chiari syndrome
Essential thrombocythemia
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial thrombocytosis
Huntington disease
Juvenile Huntington disease
Myelofibrosis with myeloid metaplasia
Neuroblastoma
Phosphoenolpyruvate carboxykinase 1 deficiency
Polycythemia vera
Retinitis pigmentosa
Autoimmune lymphoproliferative syndrome with recurrent infections
Synonym(s):
- OL-EDA-ID
Classification (Orphanet):
- Rare bone disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
IKBKG Q9Y6K9300248
No signs/symptoms info available.