ODCs

Cytoscape Web

Click node...

12q14 microdeletion syndrome

2 associated genes
32 signs/symptoms

PROTEIN INTERACTIONS: 2

Aneurysm - osteoarthritis syndrome

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

12q14 microdeletion syndrome

Aneurysm - osteoarthritis syndrome

HMGA2	(UniProt - OMIM)		SMAD3	(UniProt - OMIM)
LEMD3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LEMD3 HMGA2	(0.72) (0.52)	SMAD3 SMAD3

Citations in the biomedical literature:

12q14 microdeletion syndrome		Aneurysm - osteoarthritis syndrome
	Synonym(s): - Del(12)(q14) - Deletion 12q14 - Monosomy 12q14 - Osteopoikilosis - short stature - intellectual deficit		Synonym(s): - AOS - Loeys-Dietz syndrome with osteoarthritis

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare surgical thoracic disease - Rare systemic or rheumatologic disease

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: unknown		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant

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

12q14 microdeletion syndrome
	Very frequent - Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Tremor Occasional - Agenesis / hypoplasia / aplasia of kidneys - Anodontia / oligodontia / hypodontia - Arnold-Chiari anomaly - Asplenia / polysplenia / spleen lobulation / accessory spleen - Broad nose / nasal bridge - Clinodactyly of fifth finger - Deepset eyes / enophthalmos - Diabetes mellitus - Downturned mouth - Ectopic / horseshoe / fused kidneys - Frontal bossing / prominent forehead - High nasal bridge - Hypotonia - Intestinal / gut / bowel malrotation - Micrognathia / retrognathia / micrognathism / retrognathism - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Scoliosis - Small / triangular nares / nostrils - Subcutaneous nodules / lipomas / tumefaction / swelling - Synophris / synophrys - Syringomelia - Thick / bushy eyebrows - Thin / retracted lips - Triangular face
Aneurysm - osteoarthritis syndrome
(no data available)