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Familial isolated congenital asplenia
1 OMIM reference -
2 associated genes
94 connected diseases
No signs/symptoms info
Disease Type of connection
Atrial septal defect, ostium secundum type
Familial atrial fibrillation
Single ventricular septal defect
Tetralogy of Fallot
Hypoplastic left heart syndrome
Atrial septal defect - atrioventricular conduction defects
Familial progressive cardiac conduction defect
Thyroid hypoplasia
Blackfan-Diamond anemia
Amyotrophic lateral sclerosis
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Craniometaphyseal dysplasia
Dyskeratosis congenita
Hoyeraal-Hreidarsson syndrome
Familial pancreatic carcinoma
Familial isolated dilated cardiomyopathy
46,XY partial gonadal dysgenesis
8p23.1 microdeletion syndrome
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Complete atrioventricular canal - ventricle hypoplasia
Partial atrioventricular canal
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Holt-Oram syndrome
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
EEC syndrome
Kabuki syndrome
Limb-mammary syndrome
Split hand-split foot malformation
Catecholaminergic polymorphic ventricular tachycardia
Autosomal dominant nonsyndromic intellectual deficit
B-cell chronic lymphocytic leukemia
Chuvash erythrocytosis
Dedifferentiated liposarcoma
Desmoid tumor
Estrogen resistance syndrome
Familial articular chondrocalcinosis
Fibronectin glomerulopathy
Frontotemporal dementia with motor neuron disease
Generalized juvenile polyposis / juvenile polyposis coli
Hemoglobinopathy Toms River
Hepatocellular carcinoma, childhood-onset
Hereditary hemorrhagic telangiectasia
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary persistence of fetal hemoglobin - sickle cell disease
Hereditary thrombophilia due to congenital protein S deficiency
Hypermethioninemia due to glycine N-methyltransferase deficiency
Muscular dystrophy, Selcen type
Myhre syndrome
Oculodentodigital dysplasia
Retinopathy - anemia- central nervous system anomalies
Syndactyly type 3
Very long chain acyl-CoA dehydrogenase deficiency
Von Hippel-Lindau disease
Well-differentiated liposarcoma
X-linked cerebral adrenoleukodystrophy
Young adult-onset Parkinsonism
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
17q23.1q23.2 microdeletion syndrome
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Pyruvate dehydrogenase E1-beta deficiency
Congenital muscular dystrophy type 1A
Congenital pulmonary alveolar proteinosis
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Junctional epidermolysis bullosa - pyloric atresia
Primary peritoneal carcinoma
Autosomal dominant progressive external ophthalmoplegia
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Hirschsprung disease
Hypotrichosis simplex
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Inflammatory myofibroblastic tumor
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Omenn syndrome
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Thrombocytopenia - absent radius
Translocation renal cell carcinoma
(no synonyms)

Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
NKX2-5 P52952600584
RPSA P08865150370
No signs/symptoms info available.