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Familial partial lipodystrophy, Dunnigan type
1 OMIM reference -
1 associated gene
36 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Muscle-eye-brain disease
8 OMIM references -
8 associated genes
24 signs/symptoms
Familial partial lipodystrophy, Dunnigan type
Muscle-eye-brain disease

LMNA
(UniProt - OMIM)
 B3GALNT2
(UniProt - OMIM)
FKRP
(UniProt - OMIM)
FKTN
(UniProt - OMIM)
GMPPB
(UniProt - OMIM)
LARGE
(UniProt - OMIM)
POMGNT1
(UniProt - OMIM)
POMT1
(UniProt - OMIM)
POMT2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
LMNA
(0.63)
GMPPB


Citations in the biomedical literature:


Familial partial lipodystrophy, Dunnigan type
LMNA
Muscle-eye-brain disease
B3GALNT2 FKRP FKTN GMPPB LARGE POMGNT1
POMT1 POMT2



Familial partial lipodystrophy, Dunnigan type
Muscle-eye-brain disease

Synonym(s):
- Dunnigan syndrome
- FPLD2
- Familial partial lipodystrophy type 2
Synonym(s):
- MEB syndrome
- Muscle-eye-brain syndrome
- Santavuori congenital muscular dystrophy
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
External references:
8 OMIM references -
No MeSH references
COMMON
SIGNS 		- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Myopathy

Familial partial lipodystrophy, Dunnigan type
Muscle-eye-brain disease

Very frequent
- Abnormal fat distribution / lipodystrophy
- Autosomal dominant inheritance
- Diabetes mellitus
- 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 / 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
- Pancreatitis
- Renal glomerular defect / glomerulopathy
- Splenomegaly
- Storage liver disease


Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal gait
- Autosomal recessive inheritance
- EEG anomalies
- Glaucoma
- Hydrocephaly
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mild visual loss / impaired visual acuity
- Myopia
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Strabismus / squint

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Cataract / lens opacification
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Movement disorder
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Meningocele