MCID: RNS001
MIFTS: 40

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 49 11 45 22 51 67 24 65
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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
raine syndrome:
Mortality/Aging: neonatal death
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 259775
Orphanet51 1832
ICD10 via Orphanet28 Q78.2
UMLS via Orphanet66 C1850106
MedGen34 C1850106
UMLS65 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 renal nutcracker syndrome, and has symptoms including enlarged thorax, increased bone mineral density and exaggerated cupid's bow. An important gene associated with Raine Syndrome is FAM20C (Family With Sequence Similarity 20 Member C). Affiliated tissues include bone, eye and lung, and related mouse phenotypes are limbs/digits/tail and renal/urinary system.

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

Wikipedia:68 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

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

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 FAM20C

Anatomical Context for Raine Syndrome

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MalaCards organs/tissues related to Raine Syndrome:

33
Bone, Eye, Lung, Tongue, Monocytes, Testes, Endothelial

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:00053718.7DMP1, FAM20C, FGF23
2MP:00053678.6DMP1, FAM20C, FGF23
3MP:00053908.5DMP1, FAM20C, FGF23
4MP:00053978.2DMP1, 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
Report of a case of Raine syndrome and literature review. (25974638)
2015
3
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations. (25928877)
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:

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