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12q14 microdeletion syndrome
2 associated genes
32 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Familial partial lipodystrophy, Köbberling type
1 OMIM reference -
1 associated gene
15 signs/symptoms
12q14 microdeletion syndrome
Familial partial lipodystrophy, Köbberling 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
HMGA2 LEMD3
Familial partial lipodystrophy, Köbberling type
LMNA



12q14 microdeletion syndrome
Familial partial lipodystrophy, Köbberling type

Synonym(s):
- Del(12)(q14)
- Deletion 12q14
- Monosomy 12q14
- Osteopoikilosis - short stature - intellectual deficit
Synonym(s):
- FPLD1
- Familial partial lipodystrophy type 1
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- 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: <1 / 1 000 000
Average age onset: adolescence / young
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, Köbberling 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
- Chronic arterial hypertension
- Hyperinsulinism / hyperinsulinemia
- Insulin resistance
- Insulin-dependent / type 1 diabetes
- Lipoatrophy

Frequent
- Abnormal / polycystic ovaries
- Acanthosis nigricans
- Hepatomegaly / liver enlargement (excluding storage disease)
- Liver / hepatic steatosis
- Xanthomas / lipomas

Occasional
- Angor pectoris / myocardial infarction
- Pancreatitis