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Bilateral renal agenesis
1 OMIM reference -
3 associated genes
18 signs/symptoms
PROTEIN INTERACTIONS: 1
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Bilateral renal agenesis
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

ITGA8
(UniProt - OMIM)
 IKBKG
(UniProt - OMIM)
RET
(UniProt - OMIM)
UPK3A
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
RET
(0.68)
IKBKG


Citations in the biomedical literature:


Bilateral renal agenesis
ITGA8 RET UPK3A
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
IKBKG



Bilateral renal agenesis
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- X-linked MSMD due to IKBKG deficiency
- X-linked MSMD due to NEMO deficiency
- X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: C536482
External references:
1 OMIM reference -
No MeSH references
Bilateral renal agenesis

Very frequent
- Agenesis / hypoplasia / aplasia of kidneys
- Epicanthic folds
- Hypertelorism
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Low set ears / posteriorly rotated ears
- Oligoamnios
- Short columella / depressed nasal tip
- Stillbirth / neonatal death

Frequent
- Congenital cardiac anomaly / malformation / cardiopathy
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Intestinal / colonic anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Sacro-coccyx / sacrum anomaly
- Tracheo-esophageal fistula / esophageal atresia / stenosis

Occasional
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Sirenomelia / mermaid / lower limb fusion
- Uterine / uterus / Fallopian tubes anomalies


X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

(no data available)