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 51 47 24 53 69 26 12 67
Lethal Osteosclerotic Bone Dysplasia 47 53
Combination of Microcephaly, Exophthalmos, Hypoplastic Nose and Midface, Gum Hyperplasia, Cleft Palate, Apparently Low-Set Ears, and Osteosclerosis 47
 
Osteosclerotic Dysplasia, Neonatal Severe 24
Rns 69

Characteristics:

Orphanet epidemiological data:

53
raine syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
raine syndrome:
Inheritance: autosomal recessive inheritance
Mortality/Aging: neonatal death

Classifications:



External Ids:

OMIM51 259775
Orphanet53 ORPHA1832
UMLS via Orphanet68 C1850106
ICD10 via Orphanet30 Q78.2
MedGen36 C1850106

Summaries for Raine Syndrome

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OMIM:51 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 limbs/digits/tail and renal/urinary system.

UniProtKB/Swiss-Prot:69 Raine syndrome: Autosomal recessive osteosclerotic bone dysplasia with neonatal lethal outcome. Clinical features include generalized osteosclerosis, craniofacial dysplasia and microcephaly.

Wikipedia:70 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

Human phenotypes related to Raine Syndrome:

 63 (show all 50)
id Description HPO Frequency HPO Source Accession
1 microcephaly63 hallmark (90%) HP:0000252
2 micrognathia63 hallmark (90%) HP:0000347
3 low-set, posteriorly rotated ears63 hallmark (90%) HP:0000368
4 depressed nasal ridge63 hallmark (90%) HP:0000457
5 anteverted nares63 hallmark (90%) HP:0000463
6 short neck63 hallmark (90%) HP:0000470
7 exaggerated cupid's bow63 hallmark (90%) HP:0002263
8 increased bone mineral density63 hallmark (90%) HP:0011001
9 enlarged thorax63 hallmark (90%) HP:0100625
10 gingival overgrowth63 typical (50%) HP:0000212
11 proptosis63 typical (50%) HP:0000520
12 intrauterine growth retardation63 typical (50%) HP:0001511
13 respiratory insufficiency63 typical (50%) HP:0002093
14 short nose63 typical (50%) HP:0003196
15 hydronephrosis63 rare (5%) HP:0000126
16 wide mouth63 rare (5%) HP:0000154
17 hydrocephalus63 rare (5%) HP:0000238
18 mandibular prognathia63 rare (5%) HP:0000303
19 protruding ear63 rare (5%) HP:0000411
20 microdontia63 rare (5%) HP:0000691
21 pectus excavatum63 rare (5%) HP:0000767
22 brachydactyly syndrome63 rare (5%) HP:0001156
23 plagiocephaly63 rare (5%) HP:0001357
24 long hallux63 rare (5%) HP:0001847
25 highly arched eyebrow63 rare (5%) HP:0002553
26 arthrogryposis multiplex congenita63 rare (5%) HP:0002804
27 micromelia63 rare (5%) HP:0002983
28 hypoplasia of dental enamel63 rare (5%) HP:0006297
29 bowing of the long bones63 rare (5%) HP:0006487
30 narrow mouth63 HP:0000160
31 cleft palate63 HP:0000175
32 high palate63 HP:0000218
33 large fontanelles63 HP:0000239
34 brachyturricephaly63 HP:0000244
35 malar flattening63 HP:0000272
36 hypertelorism63 HP:0000316
37 mixed hearing impairment63 HP:0000410
38 choanal stenosis63 HP:0000452
39 choanal atresia63 HP:0000453
40 downslanted palpebral fissures63 HP:0000494
41 natal tooth63 HP:0000695
42 pulmonary hypoplasia63 HP:0002089
43 hypophosphatemia63 HP:0002148
44 cerebral calcification63 HP:0002514
45 elevated alkaline phosphatase63 HP:0003155
46 short stature63 HP:0004322
47 thoracic hypoplasia63 HP:0005257
48 depressed nasal bridge63 HP:0005280
49 protruding tongue63 HP:0010808
50 midface retrusion63 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 Syndrome26 24 FAM20C

Anatomical Context for Raine Syndrome

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MalaCards organs/tissues related to Raine Syndrome:

35
Bone, Eye, Tongue, Testes

Animal Models for Raine Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Raine Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.3DMP1, FAM20C, FGF23
2MP:00053679.3DMP1, FAM20C, FGF23
3MP:00053908.5DMP1, FAM20C, FGF23

Publications for Raine Syndrome

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Articles related to Raine Syndrome:

(show all 26)
idTitleAuthorsYear
1
Non lethal Raine syndrome and differential diagnosis. (27667191)
2016
2
Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660). (27862258)
2016
3
Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. (27187611)
2016
4
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations. (25928877)
2015
5
Report of a case of Raine syndrome and literature review. (25974638)
2015
6
Raine syndrome. (24959018)
2014
7
Raine syndrome: an overview. (25019372)
2014
8
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
9
Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia. (25026495)
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
Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. (18000911)
2007
16
Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. (17924334)
2007
17
Raine syndrome associated with cytomegalovirus infection. (15884638)
2005
18
Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome. (14564151)
2003
19
Further delineation of Raine syndrome. (12868469)
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:

69
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, ASP437ASNSNVPathogenicChr na, -1: -1
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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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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet