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Caudal regression sequence

1 OMIM reference -
2 associated genes
29 signs/symptoms

PROTEIN INTERACTIONS: 1

Muscular dystrophy, Selcen type

1 OMIM reference -
1 associated gene
No signs/symptoms info

Caudal regression sequence

Muscular dystrophy, Selcen type

FUZ	(UniProt - OMIM)		BAG3	(UniProt - OMIM)
VANGL1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FUZ	(0.63)	BAG3

Citations in the biomedical literature:

Caudal regression sequence		Muscular dystrophy, Selcen type
	Synonym(s): - Caudal dysplasia - Sacral agenesis syndrome - Sacral regression syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare renal disease - Rare urogenital disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: multigenic/multifactorial		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adolescence / young Average age of death: - Type of inheritance: autosomal dominant

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

Caudal regression sequence
	Very frequent - Encopresis / fecal incontinence - Maternal diabetes - Motor deficit / trouble - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Polygenic / multifactorial inheritance - Sacrococcyx agenesis - Vertebral segmentation anomaly / hemivertebrae Frequent - Agenesis / hypoplasia / aplasia of kidneys - Areflexia / hyporeflexia - Congenital cardiac anomaly / malformation / cardiopathy - Ectopic / horseshoe / fused kidneys - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Restricted joint mobility / joint stiffness / ankylosis - Scoliosis - Sphincter dysfunction - Talipes-varus / metatarsal varus - Vesicorenal / vesicoureteral reflux Occasional - Ambiguous genitalia - Arnold-Chiari anomaly - Chronic arterial hypertension - Cleft lip and palate - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Renal failure - Rib number anomalies - Stillbirth / neonatal death - Undescended / ectopic testes / cryptorchidia / unfixed testes
Muscular dystrophy, Selcen type
(no data available)