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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
18 signs/symptoms
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Bilateral renal agenesis

IKBKG ITGA8
RET
UPK3A


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
IKBKG
Bilateral renal agenesis
ITGA8 RET UPK3A



Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Bilateral renal agenesis

Synonym(s):
- OL-EDA-ID

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare bone disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: x-linked recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536482

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


Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema

(no data available)