MCID: RNS001
MIFTS: 39

Raine Syndrome 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 50 46 23 52 68 25 12 66
Lethal Osteosclerotic Bone Dysplasia 46 52
Combination of Microcephaly, Exophthalmos, Hypoplastic Nose and Midface, Gum Hyperplasia, Cleft Palate, Apparently Low-Set Ears, and Osteosclerosis 46
 
Osteosclerotic Dysplasia, Neonatal Severe 23
Rns 68

Characteristics:

Orphanet epidemiological data:

52
raine syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
raine syndrome:
Inheritance: autosomal recessive inheritance
Mortality/Aging: neonatal death


Classifications:



External Ids:

OMIM50 259775
Orphanet52 ORPHA1832
ICD10 via Orphanet29 Q78.2
UMLS via Orphanet67 C1850106
MedGen35 C1850106

Summaries for Raine Syndrome

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OMIM:50 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 microcephaly, micrognathia and low-set, posteriorly rotated ears. 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 skeleton and renal/urinary system.

UniProtKB/Swiss-Prot:68 Raine syndrome: Autosomal recessive osteosclerotic bone dysplasia with neonatal lethal outcome. Clinical features include generalized osteosclerosis, craniofacial dysplasia and microcephaly.

Wikipedia:69 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 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

HPO human phenotypes related to Raine Syndrome:

(show all 58)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 micrognathia hallmark (90%) HP:0000347
3 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
4 depressed nasal ridge hallmark (90%) HP:0000457
5 anteverted nares hallmark (90%) HP:0000463
6 short neck hallmark (90%) HP:0000470
7 exaggerated cupid's bow hallmark (90%) HP:0002263
8 increased bone mineral density hallmark (90%) HP:0011001
9 enlarged thorax hallmark (90%) HP:0100625
10 gingival overgrowth typical (50%) HP:0000212
11 micrognathia typical (50%) HP:0000347
12 proptosis typical (50%) HP:0000520
13 intrauterine growth retardation typical (50%) HP:0001511
14 respiratory insufficiency typical (50%) HP:0002093
15 short nose typical (50%) HP:0003196
16 hydronephrosis rare (5%) HP:0000126
17 wide mouth rare (5%) HP:0000154
18 hydrocephalus rare (5%) HP:0000238
19 mandibular prognathia rare (5%) HP:0000303
20 protruding ear rare (5%) HP:0000411
21 microdontia rare (5%) HP:0000691
22 pectus excavatum rare (5%) HP:0000767
23 brachydactyly syndrome rare (5%) HP:0001156
24 plagiocephaly rare (5%) HP:0001357
25 long hallux rare (5%) HP:0001847
26 highly arched eyebrow rare (5%) HP:0002553
27 arthrogryposis multiplex congenita rare (5%) HP:0002804
28 micromelia rare (5%) HP:0002983
29 hypoplasia of dental enamel rare (5%) HP:0006297
30 bowing of the long bones rare (5%) HP:0006487
31 narrow mouth HP:0000160
32 cleft palate HP:0000175
33 gingival overgrowth HP:0000212
34 high palate HP:0000218
35 large fontanelles HP:0000239
36 brachyturricephaly HP:0000244
37 microcephaly HP:0000252
38 malar flattening HP:0000272
39 hypertelorism HP:0000316
40 micrognathia HP:0000347
41 mixed hearing impairment HP:0000410
42 choanal stenosis HP:0000452
43 choanal atresia HP:0000453
44 short neck HP:0000470
45 downslanted palpebral fissures HP:0000494
46 proptosis HP:0000520
47 natal tooth HP:0000695
48 pulmonary hypoplasia HP:0002089
49 hypophosphatemia HP:0002148
50 cerebral calcification HP:0002514
51 elevated alkaline phosphatase HP:0003155
52 short nose HP:0003196
53 short stature HP:0004322
54 thoracic hypoplasia HP:0005257
55 depressed nasal bridge HP:0005280
56 protruding tongue HP:0010808
57 increased bone mineral density HP:0011001
58 midface retrusion HP:0011800

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 Syndrome25 23 FAM20C

Anatomical Context for Raine Syndrome

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MalaCards organs/tissues related to Raine Syndrome:

34
Bone, Eye, Tongue, Testes

Animal Models for Raine Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Raine Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5DMP1, FAM20C, FGF23
2MP:00053678.4DMP1, FAM20C, FGF23
3MP:00053718.2DMP1, FAM20C, FGF23

Publications for Raine Syndrome

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Articles related to Raine Syndrome:

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

68
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_073663
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)single nucleotide variantPathogenicrs267606795GRCh37Chr 7, 295835: 295835
2FAM20CNM_020223.3(FAM20C): c.1163T> G (p.Leu388Arg)single nucleotide variantPathogenicrs796051849GRCh38Chr 7, 255939: 255939
3FAM20CNM_020223.3(FAM20C): c.1645C> T (p.Arg549Trp)single nucleotide variantPathogenicrs796051850GRCh38Chr 7, 259870: 259870
4FAM20CNM_020223.3(FAM20C): c.957-3C> Gsingle nucleotide variantPathogenicrs796051851GRCh38Chr 7, 248312: 248312
5FAM20CNM_020223.3(FAM20C): c.1136G> A (p.Gly379Glu)single nucleotide variantPathogenicrs796051852GRCh38Chr 7, 255912: 255912
6FAM20CNM_020223.3(FAM20C): c.1364-2A> Gsingle nucleotide variantPathogenicrs796051853GRCh38Chr 7, 257003: 257003
7FAM20CNM_020223.3(FAM20C): c.956+5G> Csingle nucleotide variantPathogenicrs796051854GRCh38Chr 7, 246512: 246512
8FAM20CNM_020223.3(FAM20C): c.1446-1G> Asingle nucleotide variantPathogenicrs796051855GRCh38Chr 7, 258645: 258645
9FAM20CFAM20C, ASP437ASNsingle nucleotide variantPathogenic
10FAM20CNM_020223.3(FAM20C): c.737T> A (p.Ile246Asn)single nucleotide variantPathogenicrs796051874GRCh38Chr 7, 195685: 195685
11FAM20CNM_020223.3(FAM20C): c.796G> A (p.Gly266Arg)single nucleotide variantPathogenicrs796051875GRCh38Chr 7, 208909: 208909
12FAM20CNM_020223.3(FAM20C): c.982C> T (p.Pro328Ser)single nucleotide variantPathogenicrs797044462GRCh38Chr 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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Biological processes related to Raine Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1biomineral tissue developmentGO:00312149.0DMP1, FAM20C

Sources for Raine Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet