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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
Athyreosis
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
Adrenomyeloneuropathy
Autosomal dominant nonsyndromic intellectual deficit
B-cell chronic lymphocytic leukemia
CADDS
Chuvash erythrocytosis
Craniopharyngioma
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
Pilomatrixoma
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
SSR4-CDG
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Thrombocytopenia - absent radius
Translocation renal cell carcinoma
Synonym(s):
(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.