MCID: RNS001
MIFTS: 42

Raine Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Ear diseases, Smell/Taste diseases categories

Aliases & Classifications for Raine Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Raine Syndrome:

Name: Raine Syndrome 49 11 45 22 51 24 65 67
Lethal Osteosclerotic Bone Dysplasia 45 51
Combination of Microcephaly, Exophthalmos, Hypoplastic Nose and Midface, Gum Hyperplasia, Cleft Palate, Apparently Low-Set Ears, and Osteosclerosis 45
 
Osteosclerotic Dysplasia, Neonatal Severe 22
Rns 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
raine syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM49 259775
Orphanet51 1832
ICD10 via Orphanet28 Q78.2
UMLS via Orphanet66 C1850106
MedGen34 C1850106

Summaries for Raine Syndrome

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OMIM:49 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 epilepsy syndrome, and has symptoms including microcephaly, micrognathia and low-set, posteriorly rotated ears. An important gene associated with Raine Syndrome is FAM20C (Family With Sequence Similarity 20, Member C). Affiliated tissues include bone, lung and tongue, and related mouse phenotypes are limbs/digits/tail and skeleton.

UniProtKB/Swiss-Prot:67 Raine syndrome: Autosomal recessive osteosclerotic bone dysplasia with neonatal lethal outcome. Clinical features include generalized osteosclerosis, craniofacial dysplasia and microcephaly.

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 for Raine Syndrome

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Symptoms by clinical synopsis from OMIM:

259775

Clinical features from OMIM:

259775

Symptoms:

 51 (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 60)
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 autosomal recessive inheritance HP:0000007
32 narrow mouth HP:0000160
33 cleft palate HP:0000175
34 gingival overgrowth HP:0000212
35 high palate HP:0000218
36 large fontanelles HP:0000239
37 brachyturricephaly HP:0000244
38 microcephaly HP:0000252
39 malar flattening HP:0000272
40 hypertelorism HP:0000316
41 micrognathia HP:0000347
42 mixed hearing impairment HP:0000410
43 choanal stenosis HP:0000452
44 choanal atresia HP:0000453
45 short neck HP:0000470
46 downslanted palpebral fissures HP:0000494
47 proptosis HP:0000520
48 natal tooth HP:0000695
49 pulmonary hypoplasia HP:0002089
50 hypophosphatemia HP:0002148
51 cerebral calcification HP:0002514
52 elevated alkaline phosphatase HP:0003155
53 short nose HP:0003196
54 neonatal death HP:0003811
55 short stature HP:0004322
56 thoracic hypoplasia HP:0005257
57 depressed nasal bridge HP:0005280
58 protruding tongue HP:0010808
59 increased bone mineral density HP:0011001
60 hypoplasia of midface HP:0011800

Drugs & Therapeutics for Raine Syndrome

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Interventional clinical trials:

Search ClinicalTrials, 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 Syndrome22 24 FAM20C

Anatomical Context for Raine Syndrome

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MalaCards organs/tissues related to Raine Syndrome:

33
Bone, Lung, Tongue

Animal Models for Raine Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Raine Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.5DMP1, FAM20C, FGF23
2MP:00053908.2DMP1, FAM20C, FGF23

Publications for Raine Syndrome

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Articles related to Raine Syndrome:

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

67
id Symbol AA change Variation ID SNP ID
1FAM20Cp.Gly379GluVAR_037530
2FAM20Cp.Gly379ArgVAR_037531
3FAM20Cp.Leu388ArgVAR_037532
4FAM20Cp.Arg549TrpVAR_037533
5FAM20Cp.Ile258AsnVAR_073660
6FAM20Cp.Thr268MetVAR_073661
7FAM20Cp.Gly280ArgVAR_073662
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

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet