MCID: RNS001
MIFTS: 34

Raine Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Ear diseases, Smell/Taste diseases categories
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Summaries for Raine Syndrome

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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 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 osteosclerosis, and has symptoms including stillbirth/neonatal death, proptosis/exophthalmos and hypoplastic mandibula/partial absence of the mandibula. An important gene associated with Raine Syndrome is FAM20C (family with sequence similarity 20, member C). Affiliated tissues include bone, eye and lung.

Description from OMIM:47 259775

Aliases & Classifications for Raine Syndrome

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Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:



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 62
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
UMLS via Orphanet63 C1850106

Related Diseases for Raine Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Raine Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1microphthalmia microtia fetal akinesia10.3
2osteosclerosis10.1
3renal nutcracker syndrome10.1
4cytomegalovirus infection10.1

Symptoms for Raine Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

259775

Clinical features from OMIM:

259775

Symptoms:

49 (show all 20)
  • 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
  • autosomal recessive inheritance
  • osteosclerosis/osteopetrosis/bone condensation
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • 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
  • microcephaly

Drugs & Therapeutics for Raine Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Raine Syndrome

Search NIH Clinical Center for Raine Syndrome

Genetic Tests for Raine Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Raine Syndrome:

id Genetic test Affiliating Genes
1 Raine Syndrome20 22

Anatomical Context for Raine Syndrome

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33MalaCards
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MalaCards organs/tissues related to Raine Syndrome:

33
Bone, Eye, Lung

Animal Models for Raine Syndrome or affiliated genes

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Publications for Raine Syndrome

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52PubMed
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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

Variations for Raine Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Raine Syndrome:

64
id Symbol AA change Variation ID SNP ID
1FAM20Cp.Gly379GluVAR_037530
2FAM20Cp.Gly379ArgVAR_037531
3FAM20Cp.Leu388ArgVAR_037532
4FAM20Cp.Arg549TrpVAR_037533

Clinvar genetic disease variations for Raine Syndrome:

1 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1FAM20CNM_020223.3(FAM20C): c.1093G> C (p.Gly365Arg)single nucleotide variantPathogenicrs267606795GRCh37Chr 7, 295835: 295835
2FAM20CFAM20C, LEU374ARGsingle nucleotide variantPathogenic
3FAM20CFAM20C, ARG535TRPsingle nucleotide variantPathogenic
4FAM20CFAM20C, IVS4, C-G, -3single nucleotide variantPathogenic
5FAM20CFAM20C, GLY365GLUundetermined variantPathogenic
6FAM20CFAM20C, IVS7, A-G, -2single nucleotide variantPathogenic
7FAM20CFAM20C, IVS4, G-C, +5single nucleotide variantPathogenic
8FAM20CFAM20C, IVS8, G-A, -1single nucleotide variantPathogenic
9FAM20CFAM20C, ASP437ASNsingle nucleotide variantPathogenic
10FAM20CFAM20C, ILE244ASNundetermined variantPathogenic
11FAM20CFAM20C, GLY266ARGundetermined variantPathogenic
12FAM20CFAM20C, PRO314SERsingle nucleotide variantPathogenic

Expression for genes affiliated with Raine Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Raine Syndrome

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Pathways for genes affiliated with Raine Syndrome

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Compounds for genes affiliated with Raine Syndrome

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GO Terms for genes affiliated with Raine Syndrome

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Products for genes affiliated with Raine Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Raine Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet