Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Raine syndrome

Raine syndrome is an autosomal recessive disorder caused by mutations of the FAM20C. The disease is characterized by hypophosphatemia and osteosclerotic bone deformations and lethal within a few weeks though some reports include elderly patients with hypophosphatemia only.

Symptoms

Hypophosphatemia
In Raine syndrome hypophosphatemia is associated with sclerotic bone disease.

Systematic

Hypophosphatemic bone and kindney disease
Disorders of the renal phosphate transporters
FGF23-induced hypophosphatemic rickets
Fanconi-type hypophosphatemic rickets
Hypophosphatemic rickets with hyperparathyroidism
Osteoglophonic dysplasia
Raine syndrome
FAM20C
X-linked dominant hypophosphatemic rickets

References:

1.

Kingston HM et al. (1991) A new lethal sclerosing bone dysplasia.

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2.

Al-Gazali LI et al. (2003) Further delineation of Raine syndrome.

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3.

Hülskamp G et al. (2003) Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome.

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4.

Simpson MA et al. (2007) Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

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5.

Simpson MA et al. (2009) Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia.

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6.

Fradin M et al. (2011) Osteosclerotic bone dysplasia in siblings with a Fam20C mutation.

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7.

Tagliabracci VS et al. (2012) Secreted kinase phosphorylates extracellular proteins that regulate biomineralization.

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8.

Nalbant D et al. (2005) FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells.

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9.

Hao J et al. (2007) Dentin matrix protein 4, a novel secretory calcium-binding protein that modulates odontoblast differentiation.

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10.

Vogel P et al. (2012) Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice.

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11.

Wang X et al. (2015) The specific role of FAM20C in dentinogenesis.

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12.

Kinoshita Y et al. (2014) Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia.

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13.

Liu P et al. (2014) Inactivation of Fam20C in cells expressing type I collagen causes periodontal disease in mice.

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14.

Acevedo AC et al. (2015) Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.

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15.

Faundes V et al. (2014) Raine syndrome: an overview.

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16.

Takeyari S et al. (2014) Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome.

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17.

Patel PJ et al. (1992) Osteopetrosis: brain ultrasound and computed tomography findings.

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18.

Kan AE et al. (1992) New distinct lethal osteosclerotic bone dysplasia (Raine syndrome).

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19.

Raine J et al. (1989) Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis.

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20.

Al Mane KA et al. (1996) Intracranial calcification in Raine syndrome.

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21.

FitzPatrick DR et al. (1998) Clinical phenotype of desmosterolosis.

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22.

None (1998) Raine syndrome.

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23.

Shalev SA et al. (1999) Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation.

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24.

Acosta AX et al. (2000) Raine dysplasia: a Brazilian case with a mild radiological involvement.

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25.

Mahafza T et al. (2001) Raine syndrome: report of a case with hand and foot anomalies.

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26.

Chitayat D et al. (2007) Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings.

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27.

Orphanet article

Orphanet ID 1832 [^]
28.

OMIM.ORG article

Omim 259775 [^]
29.

Wikipedia article

Wikipedia EN (Raine_syndrome) [^]
Update: April 29, 2019