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1 OMIM reference -
1 associated gene
25 signs/symptoms
PROTEIN INTERACTIONS: 1
7 OMIM references -
9 associated genes
No signs/symptoms info
Achondrogenesis type 2
Immunodeficiency due to an early component of complement deficiency

COL2A1 C1QA
C1QB
C1QC
C1R
C1S
C2
C4A
C4B
SERPING1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL2A1
(0.52)
C1QA



Citations in the biomedical literature:


Achondrogenesis type 2
COL2A1
Immunodeficiency due to an early component of complement deficiency
C1QA C1QB C1QC C1R C1S C2
C4A C4B SERPING1



Achondrogenesis type 2
Immunodeficiency due to an early component of complement deficiency

Synonym(s):
- Achondrogenesis, Langer-Saldino type

Synonym(s):
- Immunodeficiency due to a C1, C4, or C2 component complement deficiency

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: C536017
External references:
7 OMIM references -
No MeSH references

Achondrogenesis type 2

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 stature / dwarfism / nanism
- 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)


Immunodeficiency due to an early component of complement deficiency

(no data available)