RNS
MCID: RNS001
MIFTS: 40

Raine Syndrome (RNS) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Ear diseases, Smell/Taste diseases

Aliases & Classifications for Raine Syndrome

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Aliases & Descriptions for Raine Syndrome:

Name: Raine Syndrome 52 48 24 54 70 27 12 68
Lethal Osteosclerotic Bone Dysplasia 48 54
Combination of Microcephaly, Exophthalmos, Hypoplastic Nose and Midface, Gum Hyperplasia, Cleft Palate, Apparently Low-Set Ears, and Osteosclerosis 48
 
Osteosclerotic Dysplasia, Neonatal Severe 24
Rns 70

Characteristics:

Orphanet epidemiological data:

54
raine syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
raine syndrome:
Inheritance: autosomal recessive inheritance
Mortality/Aging: neonatal death

Classifications:



External Ids:

OMIM52 259775
Orphanet54 ORPHA1832
UMLS via Orphanet69 C1850106
ICD10 via Orphanet31 Q78.2
MedGen37 C1850106

Summaries for Raine Syndrome

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OMIM:52 Raine syndrome is a neonatal osteosclerotic bone dysplasia of early and aggressive onset that usually results in death... (259775) more...

MalaCards based summary: Raine Syndrome, also known as lethal osteosclerotic bone dysplasia, is related to microphthalmia microtia fetal akinesia and renal nutcracker syndrome, and has symptoms including hydronephrosis, wide mouth and narrow mouth. An important gene associated with Raine Syndrome is FAM20C (FAM20C, Golgi Associated Secretory Pathway Kinase). Affiliated tissues include bone, eye and tongue, and related mouse phenotypes are limbs/digits/tail and renal/urinary system.

UniProtKB/Swiss-Prot:70 Raine syndrome: Autosomal recessive osteosclerotic bone dysplasia with neonatal lethal outcome. Clinical features include generalized osteosclerosis, craniofacial dysplasia and microcephaly.

Wikipedia:71 Raine syndrome (RNS), also called osteosclerotic bone dysplasia, is a rare autosomal recessive... more...

Related Diseases for Raine Syndrome

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Graphical network of the top 20 diseases related to Raine Syndrome:



Diseases related to raine syndrome

Symptoms & Phenotypes for Raine Syndrome

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Symptoms by clinical synopsis from OMIM:

259775

Clinical features from OMIM:

259775

Human phenotypes related to Raine Syndrome:

 64 (show all 46)
id Description HPO Frequency HPO Source Accession
1 hydronephrosis64 HP:0000126
2 wide mouth64 HP:0000154
3 narrow mouth64 HP:0000160
4 cleft palate64 HP:0000175
5 gingival overgrowth64 HP:0000212
6 high palate64 HP:0000218
7 hydrocephalus64 HP:0000238
8 large fontanelles64 HP:0000239
9 brachyturricephaly64 HP:0000244
10 microcephaly64 HP:0000252
11 malar flattening64 HP:0000272
12 mandibular prognathia64 HP:0000303
13 hypertelorism64 HP:0000316
14 micrognathia64 HP:0000347
15 posteriorly rotated ears64 HP:0000358
16 low-set ears64 HP:0000369
17 mixed hearing impairment64 HP:0000410
18 protruding ear64 HP:0000411
19 choanal stenosis64 HP:0000452
20 choanal atresia64 HP:0000453
21 short neck64 HP:0000470
22 downslanted palpebral fissures64 HP:0000494
23 proptosis64 HP:0000520
24 microdontia64 HP:0000691
25 natal tooth64 HP:0000695
26 pectus excavatum64 HP:0000767
27 brachydactyly syndrome64 HP:0001156
28 global developmental delay64 HP:0001263
29 plagiocephaly64 HP:0001357
30 long hallux64 HP:0001847
31 pulmonary hypoplasia64 HP:0002089
32 hypophosphatemia64 HP:0002148
33 cerebral calcification64 HP:0002514
34 highly arched eyebrow64 HP:0002553
35 arthrogryposis multiplex congenita64 HP:0002804
36 micromelia64 HP:0002983
37 elevated alkaline phosphatase64 HP:0003155
38 short nose64 HP:0003196
39 short stature64 HP:0004322
40 thoracic hypoplasia64 HP:0005257
41 depressed nasal bridge64 HP:0005280
42 hypoplasia of dental enamel64 HP:0006297
43 bowing of the long bones64 HP:0006487
44 protruding tongue64 HP:0010808
45 increased bone mineral density64 HP:0011001
46 midface retrusion64 HP:0011800

MGI Mouse Phenotypes related to Raine Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.3DMP1, FAM20C, FGF23
2MP:00053679.3DMP1, FAM20C, FGF23
3MP:00053908.5DMP1, FAM20C, FGF23

Drugs & Therapeutics for Raine Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Consent for Use of Stored Patient Specimens for Future TestingRecruitingNCT00031408

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 Syndrome27 24 FAM20C

Anatomical Context for Raine Syndrome

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MalaCards organs/tissues related to Raine Syndrome:

36
Bone, Eye, Tongue

Publications for Raine Syndrome

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Articles related to Raine Syndrome:

(show all 26)
idTitleAuthorsYear
1
Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660). (27862258)
2016
2
Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. (27187611)
2016
3
Non lethal Raine syndrome and differential diagnosis. (27667191)
2016
4
Report of a case of Raine syndrome and literature review. (25974638)
2015
5
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations. (25928877)
2015
6
Raine syndrome: an overview. (25019372)
2014
7
Raine syndrome. (24959018)
2014
8
Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia. (25026495)
2014
9
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
10
Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome. (24039075)
2013
11
The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins. (22900076)
2012
12
Raine syndrome: expanding the radiological spectrum. (21076826)
2011
13
Raine syndrome. (21948671)
2011
14
Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent. (20453638)
2010
15
Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. (17924334)
2007
16
Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. (18000911)
2007
17
Raine syndrome associated with cytomegalovirus infection. (15884638)
2005
18
Further delineation of Raine syndrome. (12868469)
2003
19
Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome. (14564151)
2003
20
Neuropathology of Raine syndrome. (11907809)
2002
21
Raine syndrome: report of a case with hand and foot anomalies. (11446420)
2001
22
Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation. (10482879)
1999
23
Intracranial calcification in Raine syndrome: radiological pathological correlation. (9799309)
1998
24
Raine syndrome. (9714445)
1998
25
Intracranial calcification in Raine syndrome. (8598998)
1996
26
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:

70
id Symbol AA change Variation ID SNP ID
1FAM20Cp.Gly379GluVAR_037530rs796051852
2FAM20Cp.Gly379ArgVAR_037531
3FAM20Cp.Leu388ArgVAR_037532rs796051849
4FAM20Cp.Arg549TrpVAR_037533rs796051850
5FAM20Cp.Ile258AsnVAR_073660
6FAM20Cp.Thr268MetVAR_073661rs778899041
7FAM20Cp.Gly280ArgVAR_073662rs779708323
8FAM20Cp.Pro328SerVAR_073663rs797044462
9FAM20Cp.Asp451AsnVAR_073664

Clinvar genetic disease variations for Raine Syndrome:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1FAM20CNM_ 020223.3(FAM20C): c.1093G> C (p.Gly365Arg)SNVPathogenicrs267606795GRCh37Chr 7, 295835: 295835
2FAM20CNM_ 020223.3(FAM20C): c.1163T> G (p.Leu388Arg)SNVPathogenicrs796051849GRCh38Chr 7, 255939: 255939
3FAM20CNM_ 020223.3(FAM20C): c.1645C> T (p.Arg549Trp)SNVPathogenicrs796051850GRCh38Chr 7, 259870: 259870
4FAM20CNM_ 020223.3(FAM20C): c.957-3C> GSNVPathogenicrs796051851GRCh38Chr 7, 248312: 248312
5FAM20CNM_ 020223.3(FAM20C): c.1136G> A (p.Gly379Glu)SNVPathogenicrs796051852GRCh38Chr 7, 255912: 255912
6FAM20CNM_ 020223.3(FAM20C): c.1364-2A> GSNVPathogenicrs796051853GRCh38Chr 7, 257003: 257003
7FAM20CNM_ 020223.3(FAM20C): c.956+5G> CSNVPathogenicrs796051854GRCh38Chr 7, 246512: 246512
8FAM20CNM_ 020223.3(FAM20C): c.1446-1G> ASNVPathogenicrs796051855GRCh38Chr 7, 258645: 258645
9FAM20CFAM20C, ASP437ASNSNVPathogenic
10FAM20CNM_ 020223.3(FAM20C): c.737T> A (p.Ile246Asn)SNVPathogenicrs796051874GRCh38Chr 7, 195685: 195685
11FAM20CNM_ 020223.3(FAM20C): c.796G> A (p.Gly266Arg)SNVPathogenicrs796051875GRCh38Chr 7, 208909: 208909
12FAM20CNM_ 020223.3(FAM20C): c.982C> T (p.Pro328Ser)SNVPathogenicrs797044462GRCh38Chr 7, 248340: 248340

Copy number variations for Raine Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1217128717200000MicrodeletionRaine Syndrome

Expression for genes affiliated with Raine Syndrome

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Search GEO for disease gene expression data for Raine Syndrome.

Pathways for genes affiliated with Raine Syndrome

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GO Terms for genes affiliated with Raine Syndrome

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Cellular components related to Raine Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:00057889.3DMP1, FAM20C, FGF23
2extracellular regionGO:00055768.5DMP1, FAM20C, FGF23

Biological processes related to Raine Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1biomineral tissue developmentGO:00312149.7DMP1, FAM20C
2cellular protein metabolic processGO:00442679.1DMP1, FAM20C, FGF23
3post-translational protein modificationGO:00436878.5DMP1, FAM20C, FGF23

Sources for Raine Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet