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Familial primary hypomagnesemia with normocalcuria and normocalcemia
2 OMIM references -
2 associated genes
30 connected diseases
No signs/symptoms info
Disease Type of connection
Adult hepatocellular carcinoma
Giant cell glioblastoma
Gliosarcoma
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Lethal congenital contracture syndrome type 2
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy
Adult-onset autosomal dominant leukodystrophy
X-linked Emery-Dreifuss muscular dystrophy
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
CNNM2 Q9H8M5607803
EGF P01133131530
No signs/symptoms info available.