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SSR4-CDG
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hirschsprung disease
9 OMIM references -
7 associated genes
17 signs/symptoms
SSR4-CDG
Hirschsprung disease

SSR4
(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)
SSR4
(0.49)
ECE1


Citations in the biomedical literature:


SSR4-CDG
SSR4
Hirschsprung disease
ECE1 EDN3 EDNRB GDNF L1CAM NRTN
RET



SSR4-CDG
Hirschsprung disease

Synonym(s):
(no synonyms)

Synonym(s):
- Aganglionic megacolon
- Congenital intestinal aganglionosis
- HSCR
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare gastroenterologic disease
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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: x-linked recessive
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
Hirschsprung disease

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
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intestinal perforation
- Polyposis of the bowel / colon / intestine
- Sensorineural deafness / hearing loss
- Sepsis severe / septicemia
- Short stature / dwarfism / nanism
- Thyroid neoplasm / tumor / carcinoma / cancer


SSR4-CDG

(no data available)