ODCs

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12q14 microdeletion syndrome

2 associated genes
32 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Familial partial lipodystrophy, Dunnigan type

1 OMIM reference -
1 associated gene
36 signs/symptoms

12q14 microdeletion syndrome

Familial partial lipodystrophy, Dunnigan type

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		Familial partial lipodystrophy, Dunnigan type
	Synonym(s): - Del(12)(q14) - Deletion 12q14 - Monosomy 12q14 - Osteopoikilosis - short stature - intellectual deficit		Synonym(s): - Dunnigan syndrome - FPLD2 - Familial partial lipodystrophy type 2

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: unknown Average age onset: childhood 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


COMMON SIGNS	- Diabetes mellitus

12q14 microdeletion syndrome		Familial partial lipodystrophy, Dunnigan type
	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 - 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		Very frequent - Abnormal fat distribution / lipodystrophy - Autosomal dominant inheritance - Hepatomegaly / liver enlargement (excluding storage disease) - Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia - Insulin resistance - Lipoatrophy - Muscle hypertrophy - Round face - Skin hypoplasia / aplasia / atrophy - Xanthomas / lipomas Frequent - Anomalies of skin, subcutaneous tissue and mucosae - Arterial atheroma / precocious atherosclerosis / arteriosclerosis - Nails anomalies - Precocious menopause / secondary amenorrhea - Premature eruption of teeth / natal teeth - Thin skin Occasional - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Abnormal / polycystic ovaries - Acanthosis nigricans - Angor pectoris / myocardial infarction - Anomalies of complement - Cardiomyopathy / hypertrophic / dilated - Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue - Cranial nerves palsy - Heart / cardiac failure - Hirsutism / hypertrichosis / Increased body hair - Liver / hepatic steatosis - Maternal hypertension / eclampsia / preeclampsia / gravidic toxemia - Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea - Myalgia / muscular pain - Myopathy - Pancreatitis - Renal glomerular defect / glomerulopathy - Splenomegaly - Storage liver disease