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13 OMIM references -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
30 signs/symptoms
Autosomal dominant nonsyndromic intellectual deficit
Chondrodysplasia, Blomstrand type

CACNG2 PTH1R
CDH15
CTNNB1
DOCK8
DYNC1H1
DYRK1A
EPB41L1
GRIN1
GRIN2B
KIF1A
KIRREL3
MBD5
SYNGAP1
TCF4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.65)
PTH1R



Citations in the biomedical literature:


Autosomal dominant nonsyndromic intellectual deficit
CACNG2 CDH15 CTNNB1 DOCK8 DYNC1H1 DYRK1A
EPB41L1 GRIN1 GRIN2B KIF1A KIRREL3 MBD5
SYNGAP1 TCF4
Chondrodysplasia, Blomstrand type
PTH1R



Autosomal dominant nonsyndromic intellectual deficit
Chondrodysplasia, Blomstrand type

Synonym(s):
(no synonyms)

Synonym(s):
- BLC
- Blomstrand lethal chondrodysplasia

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

External references:
13 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537914

Chondrodysplasia, Blomstrand type

Very frequent
- Abnormal vertebral size / shape
- Advanced bone age
- Autosomal recessive inheritance
- Clavicle absent / abnormal
- Depressed nasal bridge
- Epiphyseal anomaly
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Low set ears / posteriorly rotated ears
- Metaphyseal anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow rib cage / thorax
- Nasal atrophy / hypoplasia / arhinia / rudimentary nose
- Osteosclerosis / osteopetrosis / bone condensation
- Polyhydramnios
- Prematurity
- Proptosis / exophthalmos
- Rib structure anomalies
- Short limbs / micromelia / brachymelia
- Short rib cage / thorax
- Short stature / dwarfism / nanism
- Stillbirth / neonatal death

Frequent
- Anteverted nares / nostrils
- Bowed diaphysis / diaphyses / long bones
- Cataract / lens opacification
- Hydrops fetalis
- Long philtrum
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Metacarpal anomalies / Archibald's sign
- Premature eruption of teeth / natal teeth
- Synostosis



Autosomal dominant nonsyndromic intellectual deficit

(no data available)