ODCs

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12q14 microdeletion syndrome

2 associated genes
32 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Mandibuloacral dysplasia with type A lipodystrophy

1 OMIM reference -
1 associated gene
28 signs/symptoms

12q14 microdeletion syndrome

Mandibuloacral dysplasia with type A lipodystrophy

HMGA2	(UniProt - OMIM)		LMNA	(UniProt - OMIM)
LEMD3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LEMD3	(0.49)	LMNA

Citations in the biomedical literature:

12q14 microdeletion syndrome		Mandibuloacral dysplasia with type A lipodystrophy
	Synonym(s): - Del(12)(q14) - Deletion 12q14 - Monosomy 12q14 - Osteopoikilosis - short stature - intellectual deficit		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535705


COMMON SIGNS	- Abnormal pigmentary skin changes / skin pigmentation anomalies - Hypotonia - Short stature / dwarfism / nanism

12q14 microdeletion syndrome		Mandibuloacral dysplasia with type A lipodystrophy
	Very frequent - Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - 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 - 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		Very frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Alopecia - Clavicle absent / abnormal - Large fontanelle / delayed fontanelle closure - Osteolysis / osteoclasia / bone destruction / erosions - Premature ageing - Restricted joint mobility / joint stiffness / ankylosis - Skin hypoplasia / aplasia / atrophy - Terminal / third phalangeal bone of fingers hypoplasia - Wormian bones Frequent - Eyebrows anomalies - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin resistance - Proptosis / exophthalmos Occasional - Anomalies of cartilages, joints and periarticular tissue - Anomalies of eyelids, eyelashes and lacrimal system - Anomalies of teeth and dentition - Articular / joint pain / arthralgia - Autosomal recessive inheritance - Breast tissue / mammary gland absence / aplasia - Cataract / lens opacification - Hearing loss / hypoacusia / deafness - High vaulted / narrow palate - Muscle anomalies - Tight skin / lack of elasticity