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

Aliases & Descriptions for Raine Syndrome:

Name: Raine Syndrome 54 50 24 56 66 29 13 69
Lethal Osteosclerotic Bone Dysplasia 50 56
Combination of Microcephaly, Exophthalmos, Hypoplastic Nose and Midface, Gum Hyperplasia, Cleft Palate, Apparently Low-Set Ears, and Osteosclerosis 50
Osteosclerotic Dysplasia, Neonatal Severe 24
Rns 66

Characteristics:

Orphanet epidemiological data:

56
lethal osteosclerotic bone dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
raine syndrome:
Mortality/Aging neonatal death
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 259775
Orphanet 56 ORPHA1832
UMLS via Orphanet 70 C1850106
ICD10 via Orphanet 34 Q78.2
MedGen 40 C1850106

Summaries for Raine Syndrome

OMIM : 54 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 malar flattening, hypertelorism and low-set 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 phenotypes are limbs/digits/tail and renal/urinary system

UniProtKB/Swiss-Prot : 66 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

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



Diseases related to Raine Syndrome

Symptoms & Phenotypes for Raine Syndrome

Symptoms by clinical synopsis from OMIM:

259775

Clinical features from OMIM:

259775

Human phenotypes related to Raine Syndrome:

32 (show all 46)
id Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hypertelorism 32 HP:0000316
3 low-set ears 32 HP:0000369
4 short neck 32 HP:0000470
5 pectus excavatum 32 HP:0000767
6 high palate 32 HP:0000218
7 hydrocephalus 32 HP:0000238
8 cerebral calcification 32 HP:0002514
9 gingival overgrowth 32 HP:0000212
10 mandibular prognathia 32 HP:0000303
11 global developmental delay 32 HP:0001263
12 depressed nasal bridge 32 HP:0005280
13 bowing of the long bones 32 HP:0006487
14 short nose 32 HP:0003196
15 microcephaly 32 HP:0000252
16 short stature 32 HP:0004322
17 hypophosphatemia 32 HP:0002148
18 cleft palate 32 HP:0000175
19 micrognathia 32 HP:0000347
20 micromelia 32 HP:0002983
21 microdontia 32 HP:0000691
22 protruding ear 32 HP:0000411
23 arthrogryposis multiplex congenita 32 HP:0002804
24 wide mouth 32 HP:0000154
25 downslanted palpebral fissures 32 HP:0000494
26 narrow mouth 32 HP:0000160
27 brachydactyly syndrome 32 HP:0001156
28 protruding tongue 32 HP:0010808
29 choanal atresia 32 HP:0000453
30 increased bone mineral density 32 HP:0011001
31 midface retrusion 32 HP:0011800
32 highly arched eyebrow 32 HP:0002553
33 proptosis 32 HP:0000520
34 large fontanelles 32 HP:0000239
35 hydronephrosis 32 HP:0000126
36 plagiocephaly 32 HP:0001357
37 brachyturricephaly 32 HP:0000244
38 choanal stenosis 32 HP:0000452
39 thoracic hypoplasia 32 HP:0005257
40 pulmonary hypoplasia 32 HP:0002089
41 long hallux 32 HP:0001847
42 elevated alkaline phosphatase 32 HP:0003155
43 mixed hearing impairment 32 HP:0000410
44 posteriorly rotated ears 32 HP:0000358
45 hypoplasia of dental enamel 32 HP:0006297
46 natal tooth 32 HP:0000695

MGI Mouse Phenotypes related to Raine Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.33 DMP1 FAM20C FGF23
2 renal/urinary system MP:0005367 9.13 DMP1 FAM20C FGF23
3 skeleton MP:0005390 8.8 DMP1 FAM20C FGF23

Drugs & Therapeutics for Raine Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 Consent for Use of Stored Patient Specimens for Future Testing Recruiting NCT00031408

Search NIH Clinical Center for Raine Syndrome

Genetic Tests for Raine Syndrome

Genetic tests related to Raine Syndrome:

id Genetic test Affiliating Genes
1 Raine Syndrome 29 24 FAM20C

Anatomical Context for Raine Syndrome

MalaCards organs/tissues related to Raine Syndrome:

39
Bone, Eye, Tongue

Publications for Raine Syndrome

Articles related to Raine Syndrome:

(show all 26)
id Title Authors Year
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

UniProtKB/Swiss-Prot genetic disease variations for Raine Syndrome:

66
id Symbol AA change Variation ID SNP ID
1 FAM20C p.Gly379Glu VAR_037530 rs796051852
2 FAM20C p.Gly379Arg VAR_037531
3 FAM20C p.Leu388Arg VAR_037532 rs796051849
4 FAM20C p.Arg549Trp VAR_037533 rs796051850
5 FAM20C p.Ile258Asn VAR_073660
6 FAM20C p.Thr268Met VAR_073661 rs778899041
7 FAM20C p.Gly280Arg VAR_073662 rs779708323
8 FAM20C p.Pro328Ser VAR_073663 rs797044462
9 FAM20C p.Asp451Asn VAR_073664

ClinVar genetic disease variations for Raine Syndrome:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 FAM20C NM_020223.3(FAM20C): c.1093G> C (p.Gly365Arg) single nucleotide variant Pathogenic rs267606795 GRCh37 Chromosome 7, 295835: 295835
2 FAM20C NM_020223.3(FAM20C): c.1163T> G (p.Leu388Arg) single nucleotide variant Pathogenic rs796051849 GRCh38 Chromosome 7, 255939: 255939
3 FAM20C NM_020223.3(FAM20C): c.1645C> T (p.Arg549Trp) single nucleotide variant Pathogenic rs796051850 GRCh38 Chromosome 7, 259870: 259870
4 FAM20C NM_020223.3(FAM20C): c.957-3C> G single nucleotide variant Pathogenic rs796051851 GRCh38 Chromosome 7, 248312: 248312
5 FAM20C NM_020223.3(FAM20C): c.1136G> A (p.Gly379Glu) single nucleotide variant Pathogenic rs796051852 GRCh38 Chromosome 7, 255912: 255912
6 FAM20C NM_020223.3(FAM20C): c.1364-2A> G single nucleotide variant Pathogenic rs796051853 GRCh38 Chromosome 7, 257003: 257003
7 FAM20C NM_020223.3(FAM20C): c.956+5G> C single nucleotide variant Pathogenic rs796051854 GRCh38 Chromosome 7, 246512: 246512
8 FAM20C NM_020223.3(FAM20C): c.1446-1G> A single nucleotide variant Pathogenic rs796051855 GRCh38 Chromosome 7, 258645: 258645
9 FAM20C FAM20C, ASP437ASN single nucleotide variant Pathogenic
10 FAM20C NM_020223.3(FAM20C): c.737T> A (p.Ile246Asn) single nucleotide variant Pathogenic rs796051874 GRCh38 Chromosome 7, 195685: 195685
11 FAM20C NM_020223.3(FAM20C): c.796G> A (p.Gly266Arg) single nucleotide variant Pathogenic rs796051875 GRCh38 Chromosome 7, 208909: 208909
12 FAM20C NM_020223.3(FAM20C): c.982C> T (p.Pro328Ser) single nucleotide variant Pathogenic rs797044462 GRCh38 Chromosome 7, 248340: 248340

Copy number variations for Raine Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 217128 7 1 7200000 Microdeletion Raine Syndrome

Expression for Raine Syndrome

Search GEO for disease gene expression data for Raine Syndrome.

Pathways for Raine Syndrome

GO Terms for Raine Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.13 DMP1 FAM20C FGF23
2 endoplasmic reticulum lumen GO:0005788 8.8 DMP1 FAM20C FGF23

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

id Name GO ID Score Top Affiliating Genes
1 biomineral tissue development GO:0031214 9.16 DMP1 FAM20C
2 post-translational protein modification GO:0043687 9.13 DMP1 FAM20C FGF23
3 cellular protein metabolic process GO:0044267 8.8 DMP1 FAM20C FGF23

Sources for Raine Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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