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8p11.2 deletion syndrome
1 associated gene
34 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
Hirschsprung disease
9 OMIM references -
7 associated genes
17 signs/symptoms
8p11.2 deletion syndrome
Hirschsprung disease

ANK1
(UniProt - OMIM)
 ECE1
(UniProt - OMIM)
EDN3
(UniProt - OMIM)
EDNRB
(UniProt - OMIM)
GDNF
(UniProt - OMIM)
L1CAM
(UniProt - OMIM)
NRTN
(UniProt - OMIM)
RET
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ANK1
(0.58)
L1CAM


Citations in the biomedical literature:


8p11.2 deletion syndrome
ANK1
Hirschsprung disease
ECE1 EDN3 EDNRB GDNF L1CAM NRTN
RET



8p11.2 deletion syndrome
Hirschsprung disease

Synonym(s):
- Del(8)(p11.2)
- Monosomy 8p11.2
Synonym(s):
- Aganglionic megacolon
- Congenital intestinal aganglionosis
- HSCR
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic 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: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
External references:
9 OMIM references -
1 MeSH reference: D006627
COMMON
SIGNS 		- Failure to thrive / difficulties for feeding in infancy / growth delay
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Short stature / dwarfism / nanism

8p11.2 deletion syndrome
Hirschsprung disease

Very frequent
- Hemolytic anemia
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Insterstitial / subtelomeric microdeletion / deletion
- Late puberty / hypogonadism / hypogenitalism
- Micrognathia / retrognathia / micrognathism / retrognathism
- Micropenis / small penis / agenesis
- Red cell structure / shape anomalies
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Frequent
- Azoospermia / oligospermia / asthenospermia
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- External ear anomalies
- High vaulted / narrow palate
- Microcephaly
- Nystagmus

Occasional
- Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia
- Atrial septal defect / interauricular communication
- Blepharophimosis / short palpebral fissures
- Coloboma of iris
- Depressed nasal bridge
- Epicanthic folds
- Hypertelorism
- Microcornea
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Patent ductus arteriosus
- Retinal / chorioretinal dysplasia / dystrophy
- Rib number anomalies
- Sacral sinus / dimple
- Seizures / epilepsy / absences / spasms / status epilepticus
- Splenomegaly
- Talipes-varus / metatarsal varus
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures


Very frequent
- Acute abdominal pain / colic
- Constipation
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Functional anomalies of the digestive system
- Intestinal obstruction / ileus
- Nausea / vomiting / regurgitation / merycism / hyperemesis

Frequent
- Weight loss / loss of appetite / break in weight curve / general health alteration

Occasional
- Acute diarrhea
- Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large
- Intestinal perforation
- Polyposis of the bowel / colon / intestine
- Sensorineural deafness / hearing loss
- Sepsis severe / septicemia
- Thyroid neoplasm / tumor / carcinoma / cancer