MCID: RNS001
MIFTS: 24

Raine Syndrome malady

Bone, Fetal, Ear, Smell/Taste categories

Summaries for Raine Syndrome

Sources:
64Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:64 Raine syndrome (RNS), also called osteosclerotic bone dysplasia, is a rare autosomal recessive... more...

MalaCards: Raine Syndrome, also known as lethal osteosclerotic bone dysplasia, is related to microphthalmia microtia fetal akinesia and renal nutcracker syndrome, and has symptoms including microcephaly, large fontanelle/delayed fontanelle closure and micrognathia/retrognathia/micrognathism/retrognathism. An important gene associated with Raine Syndrome is FAM20C (family with sequence similarity 20, member C).

Description from OMIM:47 259775

Aliases & Classifications for Raine Syndrome

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone, Ear, Smell/Taste


Characteristics (Orphanet epidemiological data):

49
raine syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

raine syndrome 43 20 22 47 49 61
lethal osteosclerotic bone dysplasia 43 49
combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis 43


External Ids:

OMIM47 259775
ICD10 via Orphanet26 Q78.2

Related Diseases for Raine Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Raine Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1microphthalmia microtia fetal akinesia10.3
2renal nutcracker syndrome10.1
3cytomegalovirus infection10.1

Clinical Features for Raine Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

259775

Clinical synopsis from OMIM:

259775

Symptoms:

49 (show all 20)
  • microcephaly
  • large fontanelle/delayed fontanelle closure
  • micrognathia/retrognathia/micrognathism/retrognathism
  • flattened nose
  • anteverted nares/nostrils
  • exaggerated cupid bows
  • cleft lip and palate
  • low set ears/posteriorly rotated ears
  • short neck
  • flared chest/bell-shaped thorax/shield chest
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • osteosclerosis/osteopetrosis/bone condensation
  • autosomal recessive inheritance
  • stillbirth/neonatal death
  • proptosis/exophthalmos
  • hypoplastic mandibula/partial absence of the mandibula
  • short/small nose
  • thickened/hypertrophic/fibromatous gingivae
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • intrauterine growth retardation

Drugs & Therapeutics for Raine Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Raine Syndrome

Drug clinical trials:

Search ClinicalTrials for Raine Syndrome

Search NIH Clinical Center for Raine Syndrome

Search CenterWatch for Raine Syndrome

Genetic Tests for Raine Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Raine Syndrome:

id Genetic test Affiliating Genes
1 Raine Syndrome20 22

Anatomical Context for Raine Syndrome

Animal Models for Raine Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Raine Syndrome

Sources:
51PubMed
See all sources

Articles related to Raine Syndrome:

(show all 17)
idTitleAuthorsYear
1
Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome. (24039075)
2013
2
The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins. (22900076)
2012
3
Raine syndrome: expanding the radiological spectrum. (21076826)
2011
4
Raine syndrome. (21948671)
2011
5
Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent. (20453638)
2010
6
Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. (18000911)
2007
7
Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. (17924334)
2007
8
Raine syndrome associated with cytomegalovirus infection. (15884638)
2005
9
Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome. (14564151)
2003
10
Further delineation of Raine syndrome. (12868469)
2003
11
Neuropathology of Raine syndrome. (11907809)
2002
12
Raine syndrome: report of a case with hand and foot anomalies. (11446420)
2001
13
Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation. (10482879)
1999
14
Intracranial calcification in Raine syndrome: radiological pathological correlation. (9799309)
1998
15
Raine syndrome. (9714445)
1998
16
Intracranial calcification in Raine syndrome. (8598998)
1996
17
New distinct lethal osteosclerotic bone dysplasia (Raine syndrome). (1642277)
1992

Genetic Variations for Raine Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Raine Syndrome:

63
id Symbol AA change Variation SNP ID
1FAM20Cp.Gly379GluVAR_037530
2FAM20Cp.Gly379ArgVAR_037531
3FAM20Cp.Leu388ArgVAR_037532
4FAM20Cp.Arg549TrpVAR_037533

Expression for genes affiliated with Raine Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Raine Syndrome

Search GEO for disease gene expression data for Raine Syndrome.

Pathways for genes affiliated with Raine Syndrome

Compounds for genes affiliated with Raine Syndrome

GO Terms for genes affiliated with Raine Syndrome

Products for genes affiliated with Raine Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Raine Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet