MCID: RNS001
MIFTS: 30

Raine Syndrome malady

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

Summaries for Raine Syndrome

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Raine syndrome (RNS), also called osteosclerotic bone dysplasia, is a rare autosomal recessive... more...

MalaCards: Raine Syndrome, also known as lethal osteosclerotic bone dysplasia, is related to microphthalmia microtia fetal akinesia and osteosclerosis, and has symptoms including stillbirth/neonatal death, proptosis/exophthalmos and hypoplastic mandibula/partial absence of the mandibula. An important gene associated with Raine Syndrome is FAM20C (family with sequence similarity 20, member C). Affiliated tissues include bone, eye and lung.

Description from OMIM:46 259775

Aliases & Classifications for Raine Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Bone diseases, Ear diseases, Smell/Taste diseases


Characteristics (Orphanet epidemiological data):

48
raine syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

raine syndrome 42 20 22 46 48 60
lethal osteosclerotic bone dysplasia 42 48
combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis 42


External Ids:

OMIM46 259775
ICD10 via Orphanet26 Q78.2

Related Diseases for Raine Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Raine Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1microphthalmia microtia fetal akinesia10.3
2osteosclerosis10.0
3renal nutcracker syndrome10.0

Clinical Features for Raine Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

259775

Clinical synopsis from OMIM:

259775

Symptoms:

48 (show all 20)
  • 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
  • autosomal recessive inheritance
  • osteosclerosis/osteopetrosis/bone condensation
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • 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
  • microcephaly

Drugs & Therapeutics for Raine Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Raine Syndrome

Drug clinical trials:

Search ClinicalTrials for Raine Syndrome

Search NIH Clinical Center for Raine Syndrome

Search CenterWatch for Raine Syndrome

Genetic Tests for Raine Syndrome

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Raine Syndrome:

id Genetic test Affiliating Genes
1 Raine Syndrome20 22

Anatomical Context for Raine Syndrome

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32MalaCards
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MalaCards organs/tissues related to Raine Syndrome:

32
Bone, Eye, Lung

Animal Models for Raine Syndrome or affiliated genes

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Publications for Raine Syndrome

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Genetic Variations for Raine Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Raine Syndrome:

62
id Symbol AA change Variation ID SNP ID
1FAM20Cp.Gly379GluVAR_037530
2FAM20Cp.Gly379ArgVAR_037531
3FAM20Cp.Leu388ArgVAR_037532
4FAM20Cp.Arg549TrpVAR_037533

Expression for genes affiliated with Raine Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Raine Syndrome

Search GEO for disease gene expression data for Raine Syndrome.

Pathways for genes affiliated with Raine Syndrome

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Compounds for genes affiliated with Raine Syndrome

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GO Terms for genes affiliated with Raine Syndrome

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Products for genes affiliated with Raine Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Raine Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet