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Hypohidrotic ectodermal dysplasia with immunodeficiency
2 OMIM references -
2 associated genes
190 connected diseases
No signs/symptoms info
Disease Type of connection
Giant cell glioblastoma
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Precursor T-cell acute lymphoblastic leukemia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Amyotrophic lateral sclerosis
B-cell chronic lymphocytic leukemia
MALT lymphoma
Precursor B-cell acute lymphoblastic leukemia
Herpetic encephalitis
Papillary or follicular thyroid carcinoma
Seckel syndrome
Essential thrombocythemia
Inflammatory myofibroblastic tumor
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Common variable immunodeficiency
Split hand-split foot malformation
Chronic mucocutaneous candidiasis
Distal monosomy 12p
Acute infantile liver failure-multisystemic involvement syndrome
Blackfan-Diamond anemia
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Baraitser-Winter syndrome
Catecholaminergic polymorphic ventricular tachycardia
Hypomyelination with atrophy of basal ganglia and cerebellum
Lissencephaly due to TUBA1A mutation
Primary dystonia, DYT4 type
Translocation renal cell carcinoma
Severe combined immunodeficiency due to LCK deficiency
Budd-Chiari syndrome
Familial thrombocytosis
Myelofibrosis with myeloid metaplasia
Polycythemia vera
Anaplastic ependymoma
Adrenocortical carcinoma
Familial pancreatic carcinoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Adult-onset distal myopathy due to VCP mutation
Behavioral variant of frontotemporal dementia
Pediatric systemic lupus erythematosus
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Autosomal dominant hypohidrotic ectodermal dysplasia
Familial dysautonomia
Familial cylindromatosis
Familial multiple trichoepithelioma
Persistent polyclonal B-cell lymphocytosis
Severe combined immunodeficiency due to CARD11 deficiency
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
Autosomal agammaglobulinemia
SHORT syndrome
Autosomal dominant progressive external ophthalmoplegia
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Young adult-onset Parkinsonism
Burkitt lymphoma
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
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
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
Progressive sensorineural hearing loss - hypertrophic cardiomyopathy
Pulverulent cataract
Severe combined immunodeficiency due to DNA-PKcs deficiency
Terminal osseous dysplasia - pigmentary defects
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
Chronic myeloid leukemia
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
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Thrombocytopenia - absent radius
Unilateral renal dysplasia
22q11.2 deletion syndrome
2q37 microdeletion syndrome
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
Hereditary breast and ovarian cancer syndrome
Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
Intravascular large B-cell lymphoma
JMP syndrome
Jawad syndrome
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Multiple endocrine neoplasia type 1
Muscular dystrophy, Selcen type
Myxoid / round cell liposarcoma
Nakajo-Nishimura syndrome
Neurofibromatosis type 3
Pachyonychia congenita
Pyogenic bacterial infections due to MyD88 deficiency
Susceptibility to viral and mycobacterial infections
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
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Huntington disease
Juvenile Huntington disease
Phosphoenolpyruvate carboxykinase 1 deficiency
Retinitis pigmentosa
Autoimmune lymphoproliferative syndrome with recurrent infections
Autosomal recessive malignant osteopetrosis
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Coffin-Lowry syndrome
Distal hereditary motor neuropathy type 2
X-linked non-syndromic intellectual deficit
Adult hypophosphatasia
Childhood-onset hypophosphatasia
Dehydratase deficiency
Infantile hypophosphatasia
Perinatal lethal hypophosphatasia
Prenatal benign hypophosphatasia
- Anhidrotic ectodermal dysplasia with immunodeficiency

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare skin 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: child / adolescent
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
IKBKG Q9Y6K9300248
NFKBIA P25963164008
No signs/symptoms info available.