MCID: RNS001
MIFTS: 36

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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Wikipedia:65 Raine syndrome (RNS), also called osteosclerotic bone dysplasia, is a rare autosomal recessive... more...

MalaCards based summary: Raine Syndrome, also known as lethal osteosclerotic bone dysplasia, is related to microphthalmia microtia fetal akinesia and hypophosphatemia, 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). Affiliated tissues include bone, eye and lung.

Description from OMIM:46 259775

Aliases & Classifications for Raine Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Raine Syndrome, Aliases & Descriptions:

Name: Raine Syndrome 42 20 22 46 48 62
Lethal Osteosclerotic Bone Dysplasia 42 48
 
Combination of Microcephaly, Exophthalmos, Hypoplastic Nose and Midface, Gum Hyperplasia, Cleft Palate, Apparently Low-Set Ears, and Osteosclerosis 42
Osteosclerotic Bone Dysplasia, Lethal 62


Classifications:



Characteristics (Orphanet epidemiological data):

48
raine syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 259775
ICD10 via Orphanet26 Q78.2
UMLS via Orphanet63 C1850106

Related Diseases for Raine Syndrome

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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 akinesia10.4
2hypophosphatemia10.1
3osteomalacia10.1
4renal nutcracker syndrome10.1
5cytomegalovirus infection10.1

Graphical network of diseases related to Raine Syndrome:



Diseases related to raine syndrome

Symptoms for Raine Syndrome

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Symptoms by clinical synopsis from OMIM:

259775

Clinical features from OMIM:

259775

Symptoms:

48 (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

HPO human phenotypes related to Raine Syndrome:

(show all 63)
id Description Frequency HPO Source Accession
1 oral cleft hallmark (90%) HP:0000202
2 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
3 microcephaly hallmark (90%) HP:0000252
4 micrognathia hallmark (90%) HP:0000347
5 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
6 depressed nasal ridge hallmark (90%) HP:0000457
7 anteverted nares hallmark (90%) HP:0000463
8 short neck hallmark (90%) HP:0000470
9 exaggerated cupid's bow hallmark (90%) HP:0002263
10 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
11 increased bone mineral density hallmark (90%) HP:0011001
12 enlarged thorax hallmark (90%) HP:0100625
13 gingival overgrowth typical (50%) HP:0000212
14 micrognathia typical (50%) HP:0000347
15 proptosis typical (50%) HP:0000520
16 intrauterine growth retardation typical (50%) HP:0001511
17 respiratory insufficiency typical (50%) HP:0002093
18 short nose typical (50%) HP:0003196
19 hydronephrosis rare (5%) HP:0000126
20 wide mouth rare (5%) HP:0000154
21 hydrocephalus rare (5%) HP:0000238
22 mandibular prognathia rare (5%) HP:0000303
23 protruding ear rare (5%) HP:0000411
24 microdontia rare (5%) HP:0000691
25 pectus excavatum rare (5%) HP:0000767
26 plagiocephaly rare (5%) HP:0001357
27 long hallux rare (5%) HP:0001847
28 highly arched eyebrow rare (5%) HP:0002553
29 arthrogryposis multiplex congenita rare (5%) HP:0002804
30 micromelia rare (5%) HP:0002983
31 hypoplasia of dental enamel rare (5%) HP:0006297
32 bowing of the long bones rare (5%) HP:0006487
33 autosomal recessive inheritance HP:0000007
34 narrow mouth HP:0000160
35 cleft palate HP:0000175
36 gingival overgrowth HP:0000212
37 high palate HP:0000218
38 large fontanelles HP:0000239
39 brachyturricephaly HP:0000244
40 microcephaly HP:0000252
41 malar flattening HP:0000272
42 hypertelorism HP:0000316
43 micrognathia HP:0000347
44 posteriorly rotated ears HP:0000358
45 low-set ears HP:0000369
46 mixed hearing impairment HP:0000410
47 choanal stenosis HP:0000452
48 choanal atresia HP:0000453
49 short neck HP:0000470
50 downslanted palpebral fissures HP:0000494
51 proptosis HP:0000520
52 natal tooth HP:0000695
53 pulmonary hypoplasia HP:0002089
54 hypophosphatemia HP:0002148
55 cerebral calcification HP:0002514
56 elevated alkaline phosphatase HP:0003155
57 short nose HP:0003196
58 short stature HP:0004322
59 thoracic hypoplasia HP:0005257
60 depressed nasal bridge HP:0005280
61 protruding tongue HP:0010808
62 increased bone mineral density HP:0011001
63 midface retrusion HP:0011800

Drugs & Therapeutics for Raine Syndrome

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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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Genetic tests related to Raine Syndrome:

id Genetic test Affiliating Genes
1 Raine Syndrome20 22

Anatomical Context for Raine Syndrome

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MalaCards organs/tissues related to Raine Syndrome:

32
Bone, Eye, Lung

Animal Models for Raine Syndrome or affiliated genes

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Publications for Raine Syndrome

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Articles related to Raine Syndrome:

(show all 20)
idTitleAuthorsYear
1
Raine syndrome. (24959018)
2014
2
Raine syndrome: an overview. (25019372)
2014
3
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. (24982027)
2014
4
Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia. (25026495)
2014
5
Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome. (24039075)
2013
6
The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins. (22900076)
2012
7
Raine syndrome: expanding the radiological spectrum. (21076826)
2011
8
Raine syndrome. (21948671)
2011
9
Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent. (20453638)
2010
10
Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. (18000911)
2007
11
Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. (17924334)
2007
12
Raine syndrome associated with cytomegalovirus infection. (15884638)
2005
13
Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome. (14564151)
2003
14
Further delineation of Raine syndrome. (12868469)
2003
15
Neuropathology of Raine syndrome. (11907809)
2002
16
Raine syndrome: report of a case with hand and foot anomalies. (11446420)
2001
17
Intracranial calcification in Raine syndrome: radiological pathological correlation. (9799309)
1998
18
Raine syndrome. (9714445)
1998
19
Intracranial calcification in Raine syndrome. (8598998)
1996
20
New distinct lethal osteosclerotic bone dysplasia (Raine syndrome). (1642277)
1992

Variations for Raine Syndrome

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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:

6 (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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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

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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

Sources for Raine Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet