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PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
12 signs/symptoms
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Spondylocarpotarsal synostosis

ISG15 FLNB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ISG15
(0.87)
FLNB



Citations in the biomedical literature:


Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ISG15
Spondylocarpotarsal synostosis
FLNB



Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Spondylocarpotarsal synostosis

Synonym(s):
- MSMD due to complete ISG15 deficiency

Synonym(s):
- Synspondylism

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

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Spondylocarpotarsal synostosis

Very frequent
- Abnormal vertebral size / shape
- Autosomal recessive inheritance
- Carpal bones fusion / synostosis
- Lordosis
- Restricted joint mobility / joint stiffness / ankylosis
- Short rib cage / thorax
- Vertebral segmentation anomaly / hemivertebrae

Occasional
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Conductive deafness / hearing loss
- Pectus excavatum
- Polycystic kidneys
- Sensorineural deafness / hearing loss


Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

(no data available)