RNS
MCID: RNS001
MIFTS: 44

Raine Syndrome (RNS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Raine Syndrome

MalaCards integrated aliases for Raine Syndrome:

Name: Raine Syndrome 57 73 20 58 72 36 13 70
Lethal Osteosclerotic Bone Dysplasia 20 58 29 6
Rns 57 72
Combination of Microcephaly, Exophthalmos, Hypoplastic Nose and Midface, Gum Hyperplasia, Cleft Palate, Apparently Low-Set Ears, and Osteosclerosis 20
Osteosclerotic Bone Dysplasia, Lethal 57
Syndrome, Raine 39

Characteristics:

Orphanet epidemiological data:

58
lethal osteosclerotic bone dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
some patients survive infancy


HPO:

31
raine syndrome:
Onset and clinical course neonatal death
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Raine Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1832 Definition A rare disorder defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Epidemiology Ten cases in eight families have been reported, the majority of a Middle East origin. Parental consanguinity was frequently present. Clinical description The cranial features are a wide anterior fontanelle, expressed proptosis with everted lower eyelids, severely depressed nasal bridge, small nose, low-set ears, and severe midface hypoplasia leading to choanal atresia. The mouth is usually triangular, gum hypertrophy is expressed, and there may be natal teeth and cleft palate /uvula. The radiological findings include generalized osteosclerosis of all bones and the base of the skull, with cortical hyperostosis and periosteal new bone formation. An obtuse mandibular angle is characteristic, as are irregularly formed ribs. Radiologically, widespread bilateral calcification in the periventricular white matter, basal ganglia, and thalamus is found and in some cases calcifications are also seen in the corpus callosum, falx, tentorium, and meninges. Extra-skeletal features can be hydronephrosis and ureteral stenosis. Etiology Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia. Diagnostic methods Diagnosis is based on clinical presentation and calcification demonstrable by ultrasound, plain X-rays and computing tomography (CT). Antenatal diagnosis Prenatal diagnosis by ultrasound or molecular testing is feasible. Genetic counseling The condition is transmitted in an autosomal recessive manner.

MalaCards based summary : Raine Syndrome, also known as lethal osteosclerotic bone dysplasia, is related to rickets and hypophosphatemic rickets, x-linked recessive. An important gene associated with Raine Syndrome is FAM20C (FAM20C Golgi Associated Secretory Pathway Kinase). Affiliated tissues include bone, eye and thalamus, and related phenotypes are short neck and microcephaly

OMIM® : 57 Raine syndrome is a neonatal osteosclerotic bone dysplasia of early and aggressive onset that usually results in death within the first few weeks of life, although there have been some reports of survival into childhood. Radiographic studies show a generalized increase in the density of all bones and a marked increase in the ossification of the skull. The increased ossification of the basal structures of the skull and facial bones underlies the characteristic facial features, which include narrow prominent forehead, proptosis, depressed nasal bridge, and midface hypoplasia. Periosteal bone formation is also characteristic of this disorder and differentiates it from osteopetrosis and other known lethal and nonlethal osteosclerotic bone dysplasias. The periosteal bone formation typically extends along the diaphysis of long bones adjacent to areas of cellular soft tissue (summary by Simpson et al., 2009). (259775) (Updated 05-Apr-2021)

KEGG : 36 Raine syndrome or lethal osteosclerotic bone dysplasia is an autosomal recessive disorder characterized by generalized osteosclerosis and characteristic facial dysmorphism. Death in the neonatal period is due to respiratory failure. Radiographic studies have shown generalized increase in the density of all bones and the basal structures of the skull, which leads to the characteristic facial features including microcephaly, proptosis, hypoplastic nose and midface, small jaw, and cleft palate.

UniProtKB/Swiss-Prot : 72 Raine syndrome: Autosomal recessive osteosclerotic bone dysplasia with neonatal lethal outcome. Clinical features include generalized osteosclerosis, craniofacial dysplasia and microcephaly.

Wikipedia : 73 Raine syndrome (RNS), also called osteosclerotic bone dysplasia, is a rare autosomal recessive... more...

Related Diseases for Raine Syndrome

Diseases related to Raine Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 rickets 30.0 FGF23 DMP1
2 hypophosphatemic rickets, x-linked recessive 29.7 FGF23 DMP1
3 hypophosphatemia 29.5 FGF23 FAM20C DMP1
4 osteomalacia 29.3 FGF23 FAM20C DMP1
5 hypophosphatemic rickets, x-linked dominant 29.0 FGF23 FAM20C DMP1
6 renal nutcracker syndrome 11.1
7 exophthalmos 10.4
8 epilepsy 10.3
9 autosomal recessive disease 10.3
10 focal epilepsy 10.2
11 choanal atresia, posterior 10.2
12 amelogenesis imperfecta 10.2
13 microcephaly 10.1
14 primary bone dysplasia with increased bone density 10.1
15 diarrhea 10.1
16 ischemia 10.1
17 aging 10.0
18 subacute delirium 10.0
19 seizure disorder 10.0
20 chondrodysplasia punctata syndrome 10.0
21 desmosterolosis 10.0
22 cerebellar hypoplasia 10.0
23 human cytomegalovirus infection 10.0
24 congenital cytomegalovirus 10.0
25 helix syndrome 10.0
26 newcastle disease 10.0
27 myopathy 10.0
28 decubitus ulcer 10.0
29 hypoxia 10.0
30 cleft palate, isolated 9.9
31 pectus excavatum 9.9
32 polykaryocytosis inducer 9.9
33 kohlschutter-tonz syndrome 9.9
34 osteomalacia, sclerosing, with cerebral calcification 9.9
35 osteonecrosis 9.9
36 hydrocephalus 9.9
37 respiratory failure 9.9
38 polyhydramnios 9.9
39 learning disability 9.9
40 pachygyria 9.9
41 hypoplastic amelogenesis imperfecta 9.9
42 microcephaly and chorioretinopathy 1 9.9 FGF23 FAM20C
43 hypophosphatemic rickets, autosomal dominant 9.9 FGF23 FAM20C
44 phosphorus metabolism disease 9.8 FGF23 FAM20C
45 arterial calcification of infancy 9.8 FGF23 FAM20C
46 alzheimer disease 9.8
47 amyotrophic lateral sclerosis 1 9.8
48 type 2 diabetes mellitus 9.8
49 lung cancer 9.8
50 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.8

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



Diseases related to Raine Syndrome

Symptoms & Phenotypes for Raine Syndrome

Human phenotypes related to Raine Syndrome:

58 31 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
2 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
3 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
4 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
5 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
6 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
7 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
8 large fontanelles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000239
9 delayed cranial suture closure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000270
10 median cleft lip and palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0008501
11 posteriorly rotated ears 58 31 occasional (7.5%) Very frequent (99-80%) HP:0000358
12 gingival overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0000212
13 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
14 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
15 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
16 respiratory failure 58 31 frequent (33%) Frequent (79-30%) HP:0002878
17 respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002098
18 mandibular aplasia 58 31 frequent (33%) Frequent (79-30%) HP:0009939
19 gingival fibromatosis 58 31 frequent (33%) Frequent (79-30%) HP:0000169
20 hydrocephalus 31 occasional (7.5%) HP:0000238
21 bowing of the long bones 31 occasional (7.5%) HP:0006487
22 mandibular prognathia 31 occasional (7.5%) HP:0000303
23 microdontia 31 occasional (7.5%) HP:0000691
24 pectus excavatum 31 occasional (7.5%) HP:0000767
25 wide mouth 31 occasional (7.5%) HP:0000154
26 brachydactyly 31 occasional (7.5%) HP:0001156
27 hydronephrosis 31 occasional (7.5%) HP:0000126
28 highly arched eyebrow 31 occasional (7.5%) HP:0002553
29 protruding ear 31 occasional (7.5%) HP:0000411
30 micromelia 31 occasional (7.5%) HP:0002983
31 arthrogryposis multiplex congenita 31 occasional (7.5%) HP:0002804
32 plagiocephaly 31 occasional (7.5%) HP:0001357
33 hydroureter 31 occasional (7.5%) HP:0000072
34 long hallux 31 occasional (7.5%) HP:0001847
35 mixed hearing impairment 31 occasional (7.5%) HP:0000410
36 hypoplasia of dental enamel 31 occasional (7.5%) HP:0006297
37 natal tooth 31 occasional (7.5%) HP:0000695
38 cerebral calcification 31 HP:0002514
39 high palate 31 HP:0000218
40 global developmental delay 31 HP:0001263
41 depressed nasal bridge 31 HP:0005280
42 hypertelorism 31 HP:0000316
43 short stature 31 HP:0004322
44 hypophosphatemia 31 HP:0002148
45 cleft palate 31 HP:0000175
46 dyspnea 58 Frequent (79-30%)
47 downslanted palpebral fissures 31 HP:0000494
48 narrow mouth 31 HP:0000160
49 protruding tongue 31 HP:0010808
50 choanal atresia 31 HP:0000453

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
high palate
cleft palate
small mouth
gingival hyperplasia
wide mouth (in some patients)
more
Head And Neck Nose:
depressed nasal bridge
hypoplastic nose

Growth Height:
short stature

Head And Neck Ears:
low-set ears
hearing loss, mixed (in some patients)
dysplastic ears (in some patients)
posteriorly rotated ears (in some patients)
protruding ears (in some patients)

Metabolic Features:
elevated alkaline phosphatase
low circulating phosphate

Skeletal Skull:
osteosclerosis

Skeletal Hands:
brachydactyly (in some patients)
bulbous fingertips (in some patients)
thick fingers (in some patients)

Head And Neck Teeth:
abnormal teeth (in some patients)
natal teeth (in some patients)
small teeth (in some patients)
enamel dysplasia (in some patients)

Genitourinary External Genitalia Male:
microscrotum (in some patients)

Genitourinary Ureters:
hydroureter, bilateral (in some patients)
stenotic ostia of ureters (in some patients)

Skeletal Spine:
absence of ossification of vertebral bodies c3 to c5 (rare)
vertebral segmentation defects (rare)

Skeletal Limbs:
short limbs (in some patients)
bowing of long bones (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
self-stimulating behavior (in some patients)

Head And Neck Neck:
short neck

Head And Neck Head:
microcephaly
brachycephaly
turribrachycephaly
plagiocephaly (in some patients)
wide fontanelles

Head And Neck Face:
micrognathia
midface hypoplasia
prognathism (in some patients)
choanal atresia or choanal stenosis
craniofacial dysplasia
more
Respiratory Lung:
pulmonary hypoplasia

Head And Neck Eyes:
downslanting palpebral fissures
exophthalmos
hypertelorism (in some patients)
arched eyebrows (in some patients)

Chest:
small thorax

Neurologic Central Nervous System:
cerebral calcifications
hydrocephalus (in some patients)
developmental delay (in some patients who survive infancy)

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum (in some patients)
multiple fracture-like rib lesions

Genitourinary Kidneys:
decreased tubular resorption of phosphate (in some patients)
hydronephrosis (in some patients)
double renal pelvis (in some patients)
renal cortex calcification (in some patients)

Skeletal:
osteosclerosis, generalized
arthrogryposis (rare)

Skeletal Pelvis:
absence of ossification of sacrum (rare)

Skeletal Feet:
large halluces (in some patients)

Clinical features from OMIM®:

259775 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Raine Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.13 DMP1 FAM20C FGF23
2 renal/urinary system MP:0005367 8.8 DMP1 FAM20C FGF23

Drugs & Therapeutics for Raine Syndrome

Search Clinical Trials , NIH Clinical Center for Raine Syndrome

Genetic Tests for Raine Syndrome

Genetic tests related to Raine Syndrome:

# Genetic test Affiliating Genes
1 Lethal Osteosclerotic Bone Dysplasia 29 FAM20C

Anatomical Context for Raine Syndrome

MalaCards organs/tissues related to Raine Syndrome:

40
Bone, Eye, Thalamus, Tongue, Cortex, Brain

Publications for Raine Syndrome

Articles related to Raine Syndrome:

(show top 50) (show all 55)
# Title Authors PMID Year
1
Osteosclerotic bone dysplasia in siblings with a Fam20C mutation. 61 6 57
20825432 2011
2
Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia. 6 57 61
19250384 2009
3
Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. 57 6 61
17924334 2007
4
Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome. 57 6 61
14564151 2003
5
Further delineation of Raine syndrome. 57 6 61
12868469 2003
6
A new lethal sclerosing bone dysplasia. 6 57
2020859 1991
7
Secreted kinase phosphorylates extracellular proteins that regulate biomineralization. 57 61
22582013 2012
8
Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. 57 61
18000911 2007
9
Raine syndrome: report of a case with hand and foot anomalies. 57 61
11446420 2001
10
Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation. 61 57
10482879 1999
11
Raine syndrome. 61 57
9714445 1998
12
Clinical phenotype of desmosterolosis. 57 61
9450875 1998
13
Intracranial calcification in Raine syndrome. 61 57
8598998 1996
14
New distinct lethal osteosclerotic bone dysplasia (Raine syndrome). 57 61
1642277 1992
15
Raine dysplasia: a Brazilian case with a mild radiological involvement. 57
10826619 2000
16
Osteopetrosis: brain ultrasound and computed tomography findings. 57
1468457 1992
17
Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis. 57
2614802 1989
18
Raine Syndrome, a Rare Lethal Osteosclerotic Bone Dysplasia: Prenatal Diagnosis With 3-Dimensional Ultrasound and a Postnatal Clinical Exome Evaluation. 61
32779771 2021
19
Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report. 61
33676444 2021
20
The ABCs of the atypical Fam20 secretory pathway kinases. 61
33759783 2021
21
Hypophosphataemic Rickets Secondary to Raine Syndrome: A Review of the Literature and Case Reports of Three Paediatric Patients' Dental Management. 61
33505751 2021
22
Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification. 61
32833257 2020
23
A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age. 61
32337609 2020
24
Natural history of non-lethal Raine syndrome during childhood. 61
32299476 2020
25
Two Novel FAM20C Variants in A Family with Raine Syndrome. 61
32093234 2020
26
Non-lethal Raine Syndrome in a Middle-Aged Woman Caused by a Novel FAM20C Mutation. 61
31471673 2019
27
Ancestral roles of the Fam20C family of secreted protein kinases revealed in C. elegans. 61
31541016 2019
28
A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome. 61
31297960 2019
29
A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee. 61
30151622 2019
30
A case of Raine syndrome presenting with facial dysmorphy and review of literature. 61
29751744 2018
31
Cover Image, Volume 176A, Number 3, March 2018. 61
29446569 2018
32
Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome. 61
29341424 2018
33
Specific ablation of mouse Fam20C in cells expressing type I collagen leads to skeletal defects and hypophosphatemia. 61
28620244 2017
34
Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660). 61
27862258 2017
35
Non lethal Raine syndrome and differential diagnosis. 61
27667191 2016
36
FAM20A binds to and regulates FAM20C localization. 61
27292199 2016
37
Report of a case of Raine syndrome and literature review. 61
25974638 2015
38
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations. 61
25928877 2015
39
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. 61
24982027 2014
40
Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia. 61
25026495 2014
41
Raine syndrome: an overview. 61
25019372 2014
42
Dynamic regulation of FGF23 by Fam20C phosphorylation, GalNAc-T3 glycosylation, and furin proteolysis. 61
24706917 2014
43
Raine syndrome. 61
24959018 2014
44
Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome. 61
24039075 2013
45
Crystal structure of the Golgi casein kinase. 61
23754375 2013
46
Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice. 61
22615579 2012
47
The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins. 61
22900076 2012
48
Raine syndrome. 61
21948671 2011
49
Raine syndrome: expanding the radiological spectrum. 61
21076826 2011
50
Expression of FAM20C in the osteogenesis and odontogenesis of mouse. 61
20644212 2010

Variations for Raine Syndrome

ClinVar genetic disease variations for Raine Syndrome:

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FAM20C NM_020223.4(FAM20C):c.1093G>C (p.Gly365Arg) SNV Pathogenic 1023 rs267606795 GRCh37: 7:295835-295835
GRCh38: 7:255869-255869
2 FAM20C NM_020223.4(FAM20C):c.1163T>G (p.Leu388Arg) SNV Pathogenic 1024 rs796051849 GRCh37: 7:295905-295905
GRCh38: 7:255939-255939
3 FAM20C NM_020223.4(FAM20C):c.1645C>T (p.Arg549Trp) SNV Pathogenic 1025 rs796051850 GRCh37: 7:299836-299836
GRCh38: 7:259870-259870
4 FAM20C NM_020223.4(FAM20C):c.957-3C>G SNV Pathogenic 1026 rs796051851 GRCh37: 7:288278-288278
GRCh38: 7:248312-248312
5 FAM20C NM_020223.4(FAM20C):c.1136G>A (p.Gly379Glu) SNV Pathogenic 1027 rs796051852 GRCh37: 7:295878-295878
GRCh38: 7:255912-255912
6 FAM20C NM_020223.4(FAM20C):c.1364-2A>G SNV Pathogenic 1028 rs796051853 GRCh37: 7:296969-296969
GRCh38: 7:257003-257003
7 FAM20C NM_020223.4(FAM20C):c.956+5G>C SNV Pathogenic 1029 rs796051854 GRCh37: 7:286478-286478
GRCh38: 7:246512-246512
8 FAM20C NM_020223.4(FAM20C):c.1446-1G>A SNV Pathogenic 1030 rs796051855 GRCh37: 7:298611-298611
GRCh38: 7:258645-258645
9 FAM20C D437N SNV Pathogenic 30875 GRCh37:
GRCh38:
10 FAM20C NM_020223.4(FAM20C):c.737T>A (p.Ile246Asn) SNV Pathogenic 30876 rs796051874 GRCh37: 7:195685-195685
GRCh38: 7:195685-195685
11 FAM20C NM_020223.4(FAM20C):c.796G>A (p.Gly266Arg) SNV Pathogenic 30877 rs796051875 GRCh37: 7:208909-208909
GRCh38: 7:208909-208909
12 FAM20C NM_020223.4(FAM20C):c.982C>T (p.Pro328Ser) SNV Pathogenic 30878 rs797044462 GRCh37: 7:288306-288306
GRCh38: 7:248340-248340
13 FAM20C NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr) SNV Likely pathogenic 289269 rs148276213 GRCh37: 7:295970-295970
GRCh38: 7:256004-256004
14 FAM20C NM_020223.4(FAM20C):c.1680C>A (p.Cys560Ter) SNV Uncertain significance 444005 rs371584776 GRCh37: 7:299871-299871
GRCh38: 7:259905-259905
15 FAM20C NM_020223.4(FAM20C):c.1375C>T (p.Arg459Cys) SNV Uncertain significance 930917 GRCh37: 7:296982-296982
GRCh38: 7:257016-257016
16 FAM20C NM_020223.4(FAM20C):c.953_956+30dup Duplication Benign 402845 rs771282640 GRCh37: 7:286468-286469
GRCh38: 7:246502-246503

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

72
# 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

Copy number variations for Raine Syndrome from CNVD:

7
# CNVD ID Chromosome 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:

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

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

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

Sources for Raine Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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