Raine Syndrome malady

Wikipedia: Raine syndrome (RNS), also called osteosclerotic bone dysplasia, is a rare autosomal recessive...⁴⁴ more...

MalaCards: Raine Syndrome, also known as combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis, is related to osteosclerosis and microphthalmia microtia fetal akinesia. An important gene associated with Raine Syndrome is FAM20C (family with sequence similarity 20, member C).

OMIM: 259775

raine syndrome 30 16 33 43 combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis 30 osteosclerotic dysplasia, neonatal severe 16

lethal osteosclerotic bone dysplasia 30 osteosclerosis 43

Diseases related to raine syndrome by text searches and GeneDecks gene sharing:

(show all 22)

id	Related Disease	Score	Top Affiliating Genes
1	osteosclerosis	9.2
2	microphthalmia microtia fetal akinesia	7.0
3	hyperostosis corticalis generalisata, benign form of worth with torus palatinus	6.9
4	myelofibrosis	6.9
5	axial osteosclerosis	6.5
6	hepatitis c	6.5
7	osteosclerosis abnormalities of nervous system and meninges	6.5
8	worth's syndrome	6.0
9	van buchem disease type 2	5.1
10	megakaryocytic leukemia	5.1
11	axial osteomalacia	5.1
12	beta thalassemia	5.1
13	mastocytosis	5.1
14	osteoporosis	5.1
15	poems syndrome	5.1
16	pseudohypoparathyroidism	5.1
17	pseudohypoparathyroidism type 1b	5.1
18	craniofacial dysostosis with diaphyseal hyperplasia	5.1
19	pycnodysostosis	5.1
20	systemic mastocytosis	5.1
21	thalassemia	5.1
22	hyperostosis	5.1

Clinical features from OMIM: 259775

Approved drugs:

Drug clinical trials:

Genetic tests related to raine syndrome:

id	Genetic test	Affiliating Genes
1	Raine Syndrome clinical/research

Articles related to raine syndrome:

id	Title	Authors	Year	Affiliating Genes
1	Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine Syndrome), highlighting a crucial molecule in bone development. (17924334)	Simpson M.A.... Crosby A.H.	2007	FAM20C

Genes related to raine syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	FAM20C	family with sequence similarity 20, member C	11.1	Publications, Disorders, Summaries