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PROTEIN INTERACTIONS: 1
1 OMIM reference -
4 associated genes
18 signs/symptoms
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
2p21 microdeletion syndrome

ISG15 CAMKMT
PPM1B
PREPL
SLC3A1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ISG15
(0.86)
PPM1B



Citations in the biomedical literature:


Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ISG15
2p21 microdeletion syndrome
CAMKMT PPM1B PREPL SLC3A1



Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
2p21 microdeletion syndrome

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

Synonym(s):
- 2p21 deletion
- Del(2)(p21)
- Monosomy 2p21

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal 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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

2p21 microdeletion syndrome

Very frequent
- Aminoacid metabolism anomalies / aminoaciduria
- Autosomal recessive inheritance
- Depressed nasal bridge
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Frontal bossing / prominent forehead
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Long / thick / curved lashes / trichomegaly / polytrichia
- Low set ears / posteriorly rotated ears
- Respiratory chain / mitochondrial anomalies
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Urinary / renal lithiasis / kidney stones / nephritic colic

Frequent
- Hypocalcemia
- Organic acid metabolism anomalies
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Fetal immobility / abnormal fetal movements
- Hypoglycemia


Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

(no data available)