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Achondrogenesis type 2
1 OMIM reference -
1 associated gene
25 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 1
Legg-Calvé-Perthes disease
1 OMIM reference -
1 associated gene
9 signs/symptoms
Achondrogenesis type 2
Legg-Calvé-Perthes disease

COL2A1
(UniProt - OMIM)
 COL2A1
(UniProt - OMIM)

COMMON
GENES 		COL2A1


Citations in the biomedical literature:


Achondrogenesis type 2
COL2A1
Legg-Calvé-Perthes disease



Achondrogenesis type 2
Legg-Calvé-Perthes disease

Synonym(s):
- Achondrogenesis, Langer-Saldino type
Synonym(s):
- Aseptic necrosis of the capital femoral epiphysis
- Osteochondritis of the capital femoral epiphysis
- Osteochondrosis of the capital femoral epiphysis
- Perthes disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C536017
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Short stature / dwarfism / nanism

Achondrogenesis type 2
Legg-Calvé-Perthes disease

Very frequent
- Abnormal / absent ossification
- Anteverted nares / nostrils
- Autosomal dominant inheritance
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Excess nuchal skin without pterygium colli
- Flat face
- Frontal bossing / prominent forehead
- Hydrops fetalis
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Long philtrum
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow rib cage / thorax
- Short limbs / micromelia / brachymelia
- Short neck
- Short rib cage / thorax
- Short / small nose
- Stillbirth / neonatal death

Frequent
- Inguinal / inguinoscrotal / crural hernia
- Polyhydramnios
- Umbilical hernia

Occasional
- Congenital cardiac anomaly / malformation / cardiopathy
- Cystic hygroma
- Postaxial polydactyly (hand)


Very frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Articular / joint pain / arthralgia
- Cartilage destruction / chondrolysis
- Delayed bone age
- Joint / articular deformation
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Osteonecrosis / bone infarction
- Polygenic / multifactorial inheritance