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Omenn syndrome
1 OMIM reference -
9 associated genes
175 connected diseases
28 signs/symptoms
Disease Type of connection
Combined immunodeficiency with skin granulomas
Severe combined immunodeficiency due to complete RAG1 / 2 deficiency
Combined immunodeficiency T+ B+ due to partial RAG1 deficiency
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
T-B+ severe combined immunodeficiency due to gamma chain deficiency
CHARGE syndrome
Kallmann syndrome
LIG4 syndrome
Normosmic congenital hypogonadotropic hypogonadism
Severe combined immunodeficiency due to DCLRE1C deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency
MELAS syndrome
Maternally-inherited Leigh syndrome
Leber hereditary optic neuropathy
Hereditary breast and ovarian cancer syndrome
Coffin-Siris syndrome
Isolated cytochrome C oxidase deficiency
Amyotrophic lateral sclerosis
Severe combined immunodeficiency due to DNA-PKcs deficiency
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Familial prostate cancer
Ataxia-telangiectasia variant
B-cell chronic lymphocytic leukemia
Combined cervical dystonia
Mantle cell lymphoma
Genetic recurrent myoglobinuria
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Chronic mucocutaneous candidiasis
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Seckel syndrome
Blackfan-Diamond anemia
Precursor T-cell acute lymphoblastic leukemia
Bilateral generalized polymicrogyria
Cernunnos-XLF deficiency
Microcephaly - seizures - developmental delay
Glucocorticoid resistance
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Acute encephalopathy with biphasic seizures and late reduced diffusion
Anophthalmia / microphthalmia - esophageal atresia
Colobomatous microphthalmia
Familial multiple meningioma
Familial rhabdoid tumor
Isolated anophthalmia - microphthalmia
Septo-optic dysplasia
Alström syndrome
Cardiofaciocutaneous syndrome
Charcot-Marie-Tooth disease type 4G
Congenital sialidosis type 2
Juvenile sialidosis type 2
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Sialidosis type 1
Xeroderma pigmentosum complementation group E
Ataxia-telangiectasia-like disorder
Familial pancreatic carcinoma
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Nijmegen breakage syndrome
Nijmegen breakage syndrome-like disorder
Primary peritoneal carcinoma
Acute myeloblastic leukemia with 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
Aleukemic mast cell leukemia
Bullous diffuse cutaneous mastocytosis
Classic mast cell leukemia
Cutaneous mastocytoma
Gastrointestinal stromal tumor
Isolated bone marrow mastocytosis
Lymphoadenopathic mastocytosis with eosinophilia
Nodular urticaria pigmentosa
Plaque-form urticaria pigmentosa
Pseudoxanthomatous diffuse cutaneous mastocytosis
Smouldering systemic mastocytosis
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Telangiectasia macularis eruptiva perstans
Typical urticaria pigmentosa
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive ataxia due to PEX10 deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2F
Autosomal recessive primary microcephaly
Baraitser-Winter syndrome
Budd-Chiari syndrome
Burkitt lymphoma
CLN10 disease
Chronic intestinal pseudoobstruction
Combined immunodeficiency due to STK4 deficiency
Cone rod dystrophy
Congenital short bowel syndrome
Congenital valvular dysplasia
Cornelia de Lange syndrome
Dyskeratosis congenita
Ehlers-Danlos syndrome type 7B
Ehlers-Danlos syndrome with periventricular heterotopia
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos / osteogenesis imperfecta syndrome
Essential thrombocythemia
Familial isolated dilated cardiomyopathy
Familial thrombocytosis
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
Frontometaphyseal dysplasia
Glycogen storage disease due to aldolase A deficiency
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Hereditary combined deficiency of vitamin K-dependent clotting factors
High bone mass osteogenesis imperfecta
Hoyeraal-Hreidarsson syndrome
Idiopathic CD4 lymphocytopenia
Idiopathic hypereosinophilic syndrome
Immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Infantile Refsum disease
Infantile osteopetrosis with neuroaxonal dysplasia
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
Juvenile myelomonocytic leukemia
Leber 'plus' disease
MERRF syndrome
MMEP syndrome
Male infertility with normal virilization due to meiosis defect
Meckel syndrome
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Mitochondrial nonsyndromic sensorineural deafness
Myelofibrosis with myeloid metaplasia
Neonatal adrenoleukodystrophy
Niemann-Pick disease type C, adult neurologic onset
Niemann-Pick disease type C, juvenile neurologic onset
Niemann-Pick disease type C, late infantile neurologic onset
Niemann-Pick disease type C, severe early infantile neurologic onset
Niemann-Pick disease type C, severe perinatal form
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Osteodysplasty, Melnick-Needles type
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Papillary or follicular thyroid carcinoma
Periventricular nodular heterotopia
Polycythemia vera
Primary hyperoxaluria type 2
Retinopathy - anemia- central nervous system anomalies
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Sporadic Leigh syndrome
Terminal osseous dysplasia - pigmentary defects
Triose phosphate-isomerase deficiency
Zellweger syndrome
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Familial partial lipodystrophy associated with PPARG mutations
Giant cell glioblastoma
Acute promyelocytic leukemia
Autosomal agammaglobulinemia
Autosomal dominant hyper-IgE syndrome
Laron syndrome with immunodeficiency
SHORT syndrome
17p13.3 microduplication syndrome
Bowen-Conradi syndrome
Distal 17p13.3 microdeletion syndrome
Familial isolated congenital asplenia
Frontotemporal dementia with motor neuron disease
Hypotrichosis simplex
Juvenile amyotrophic lateral sclerosis
Miller-Dieker syndrome
Myxoid / round cell liposarcoma
Oculopharyngeal muscular dystrophy
Translocation renal cell carcinoma
- Combined immunodeficiency with hypereosinophilia

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Very frequent
- Alopecia
- Autosomal recessive inheritance
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hepatomegaly / liver enlargement (excluding storage disease)
- Lymphadenopathy / polyadenopathies
- Lymphocytes anomalies
- Malabsorption / chronic diarrhea / steatorrhea
- Severe combined immune deficiency syndrome / SCID

- Absent / decreased / thin eyebrows
- Cutaneous edema
- Dry / squaly skin / exfoliation
- Eosinophils anomalies / hypereosinophilia
- Fever / chilling
- Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity
- Hyperleukocytosis / leukocytosis
- Pruritus / itching
- Splenomegaly
- Thick skin / pachydermia / orange skin

- Anaemia
- Autoimmunity / autoimmune reaction / autoantibodies
- Dysplastic / thick / grooved fingernails
- Hypothyroidy
- Lymphoma
- Metaphyseal anomaly
- Nephrotic syndrome
- Sepsis severe / septicemia
- Thyroiditis