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Autosomal dominant limb-girdle muscular dystrophy type 1B

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

PROTEIN INTERACTIONS: 1

3C syndrome

1 OMIM reference -
1 associated gene
64 signs/symptoms

Autosomal dominant limb-girdle muscular dystrophy type 1B

3C syndrome

LMNA

(UniProt - OMIM)

KIAA0196

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LMNA	(0.63)	KIAA0196

Citations in the biomedical literature:

Autosomal dominant limb-girdle muscular dystrophy type 1B		3C syndrome
	Synonym(s): - LGMD1B - Limb-girdle muscular dystrophy due to lamin A/C deficiency		Synonym(s): - Craniocerebellocardiac dysplasia - Ritscher-Schinzel syndrome

	Classification (Orphanet): - Rare cardiac disease - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535313

3C syndrome
	Very frequent - Autosomal recessive inheritance - Broad nasal root - Dandy-Walker anomaly - Frontal bossing / prominent forehead - Hypertelorism - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Large fontanelle / delayed fontanelle closure - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Atrial septal defect / interauricular communication - Atrioventricular canal - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Death in infancy - Depressed nasal bridge - Dilated cerebral ventricles without hydrocephaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - High vaulted / narrow palate - Hydrocephaly - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Hypoplastic left heart / ventricle - Kyphosis - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Motor deficit / trouble - Prominent occiput / occipital bossing - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Repeat respiratory infections - Scoliosis - Short stature / dwarfism / nanism - Short / small nose - Tetralogy of Fallot / trilogy of Fallot - Tricuspid valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Ventricular septal defect / interventricular communication Occasional - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Anus ectopia / anteposition / malposition - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Cleft lip and palate - Coloboma of iris - Cortico-adrenal hypoplasia / insufficiency - Failure to thrive / difficulties for feeding in infancy / growth delay - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Glaucoma - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypoplastic / absent nipples - Hypospadias / epispadias / bent penis - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Inguinal / inguinoscrotal / crural hernia - Intestinal / gut / bowel malrotation - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Micrognathia / retrognathia / micrognathism / retrognathism - Micropenis / small penis / agenesis - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Preauricular / branchial tags / appendages - Retinoschisis / retinal / chorioretinal coloboma - Rib number anomalies - Short hand / brachydactyly - Short neck - Single umbilical artery - Syndactyly of fingers / interdigital palm - Thin / hypoplastic / hyperconvex fingernails - Upper limb polydactyly / hexadactyly - Vertebral segmentation anomaly / hemivertebrae
Autosomal dominant limb-girdle muscular dystrophy type 1B
(no data available)