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Combined immunodeficiency due to STK4 deficiency
1 OMIM reference -
1 associated gene
96 connected diseases
No signs/symptoms info
Disease Type of connection
Blackfan-Diamond anemia
Amyotrophic lateral sclerosis
Papillary or follicular thyroid carcinoma
Precursor B-cell acute lymphoblastic leukemia
Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Propionic acidemia
Cowden syndrome
Proteus syndrome
Distal monosomy 12p
Alveolar rhabdomyosarcoma
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Chronic myeloid leukemia
Precursor T-cell acute lymphoblastic leukemia
17p13.3 microduplication syndrome
3-phosphoglycerate dehydrogenase deficiency
Acrokeratosis verruciformis of Hopf
Alexander disease type I
Alexander disease type II
Atelosteogenesis type I
Atelosteogenesis type III
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant Larsen syndrome
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal dominant spastic paraplegia type 13
Autosomal recessive Emery-Dreifuss muscular dystrophy
Boomerang dysplasia
Charcot-Marie-Tooth disease type 2B1
Chronic intestinal pseudoobstruction
Combined oxidative phosphorylation defect type 4
Congenital muscular dystrophy due to LMNA mutation
Congenital short bowel syndrome
Congenital valvular dysplasia
Darier disease
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Distal 17p13.3 microdeletion syndrome
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Ehlers-Danlos syndrome with periventricular heterotopia
Extraskeletal myxoid chondrosarcoma
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Frontometaphyseal dysplasia
Frontotemporal dementia with motor neuron disease
Heart-hand syndrome, Slovenian type
Hereditary motor and sensory neuropathy, Okinawa type
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Hutchinson-Gilford progeria syndrome
Hypotrichosis simplex
Idiopathic hypercalciuria
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Isolated ATP synthase deficiency
Juvenile amyotrophic lateral sclerosis
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Miller-Dieker syndrome
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Myxoid / round cell liposarcoma
Omenn syndrome
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Periventricular nodular heterotopia
Progeria-associated arthropathy
Pulverulent cataract
Pyruvate carboxylase deficiency, benign type
Pyruvate carboxylase deficiency, infantile type
Pyruvate carboxylase deficiency, severe neonatal type
Reducing body myopathy
Severe X-linked mitochondrial encephalomyopathy
Spastic paraplegia-optic atrophy-neuropathy syndrome
Spondylocarpotarsal synostosis
T-B+ severe combined immunodeficiency due to gamma chain deficiency
Terminal osseous dysplasia - pigmentary defects
Treacher-Collins syndrome
X-linked Charcot-Marie-Tooth disease type 4
X-linked Emery-Dreifuss muscular dystrophy
X-linked myopathy with postural muscle atrophy
- CID due to STK4 deficiency

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: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
STK4 Q13043604965
No signs/symptoms info available.