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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Cleft Palate (D002972)
Parent Node: Exophthalmos (D005094)
Parent Node: Microcephaly (D008831)
Parent Node: Osteosclerosis (D010026)
..Starting node ..Raine syndrome (C535282)
Child Nodes:
Sister Nodes:
..Axial osteosclerosis (C537792)
..Cerebellar hypoplasia with endosteal sclerosis (C535353)
..Craniofacial Dysostosis with Diaphyseal Hyperplasia (C562974)
..Distal Osteosclerosis (C565093)
..Dysosteosclerosis (C562973)
..Forney Robinson Pascoe syndrome (C537269)
..Hyperostosis Cranialis Interna (C564168)
..Melorheostosis (D008557) 1
..Mixed sclerosing bone dystrophy (C537479)
..Osteopathia striata cranial sclerosis (C536053)
..Osteopetrosis (D010022) 15
..Osteopoikilosis (D010023) 4
..Osteosclerosis with Ichthyosis and Fractures (C563483)
..Osteosclerotic Chondrodysplasia, Lethal, With Intracellular Inclusions (C566378)
..Pyknoachondrogenesis (C536251)
..Raine syndrome (C535282)
..Whyte Murphy syndrome (C536054)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9591

Name:

Raine syndrome

Definition:

Alternative IDs:

OMIM:259775

ParentIDs:

MESH:D000015|MESH:D002972|MESH:D005094|MESH:D008831|MESH:D010026

TreeNumbers:

C05.116.099.708.702/C535282 |C05.500.460.185/C535282 |C05.660.207.540.460.185/C535282 |C05.660.207.620/C535282 |C07.320.440.185/C535282 |C07.465.525.185/C535282 |C07.650.500.460.185/C535282 |C07.650.525.185/C535282 |C10.500.507.400.500/C535282 |C11.675.349/C53528

Synonyms:

Lethal osteosclerotic bone dysplasia |Osteosclerotic Bone Dysplasia, Lethal |RNS

Slim Mappings:

Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C535282
MeSH: C535282
OMIM: 259775;

Genes: FAM20C;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002804	Arthrogryposis multiplex congenita	HP:0040283
3	HP:0006487	Bowing of the long bones	HP:0040283
4	HP:0001156	Brachydactyly	HP:0040283
5	HP:0000244	Brachyturricephaly
6	HP:0002514	Cerebral calcification
7	HP:0000453	Choanal atresia
8	HP:0000452	Choanal stenosis
9	HP:0000175	Cleft palate
10	HP:0005280	Depressed nasal bridge
11	HP:0000494	Downslanted palpebral fissures
12	HP:0003155	Elevated circulating alkaline phosphatase concentration
13	HP:0006297	Enamel hypoplasia	HP:0040283
14	HP:0000212	Gingival overgrowth
15	HP:0001263	Global developmental delay
16	HP:0000218	High palate
17	HP:0002553	Highly arched eyebrow	HP:0040283
18	HP:0000238	Hydrocephalus	HP:0040283
19	HP:0000126	Hydronephrosis	HP:0040283
20	HP:0000072	Hydroureter	HP:0040283
21	HP:0000316	Hypertelorism
22	HP:0002148	Hypophosphatemia
23	HP:0011001	Increased bone mineral density
24	HP:0000239	Large fontanelles
25	HP:0001847	Long hallux	HP:0040283
26	HP:0000369	Low-set ears
27	HP:0000272	Malar flattening
28	HP:0000303	Mandibular prognathia	HP:0040283
29	HP:0000252	Microcephaly
30	HP:0000691	Microdontia	HP:0040283
31	HP:0000347	Micrognathia
32	HP:0002983	Micromelia	HP:0040283
33	HP:0011800	Midface retrusion
34	HP:0000410	Mixed hearing impairment	HP:0040283
35	HP:0000160	Narrow mouth
36	HP:0000695	Natal tooth	HP:0040283
37	HP:0003811	Neonatal death
38	HP:0000767	Pectus excavatum	HP:0040283
39	HP:0001357	Plagiocephaly	HP:0040283
40	HP:0000358	Posteriorly rotated ears	HP:0040283
41	HP:0000520	Proptosis
42	HP:0000411	Protruding ear	HP:0040283
43	HP:0010808	Protruding tongue
44	HP:0002089	Pulmonary hypoplasia
45	HP:0000470	Short neck
46	HP:0003196	Short nose
47	HP:0004322	Short stature
48	HP:0005257	Thoracic hypoplasia
49	HP:0000154	Wide mouth	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_020223.3(FAM20C):c.737T>A (p.Ile246Asn)	56975	FAM20C	Pathogenic	796051874	RCV000023861;	N	MedGen:C1850106,OMIM:259775,ORPHA:1832	7	195685	195685	NM_020223.3:c.737T>A	NP_064608.2:p.Ile246Asn	7:g.195685T>A	OMIM Allelic Variant:611061.0010	C1850106 259775 Raine syndrome
NM_020223.3(FAM20C):c.796G>A (p.Gly266Arg)	56975	FAM20C	Pathogenic	796051875	RCV000023862;	N	MedGen:C1850106,OMIM:259775,ORPHA:1832	7	208909	208909	NM_020223.3:c.796G>A	NP_064608.2:p.Gly266Arg	7:g.208909G>A	OMIM Allelic Variant:611061.0011	C1850106 259775 Raine syndrome
NM_020223.3(FAM20C):c.956+5G>C	56975	FAM20C	Pathogenic	796051854	RCV000001084;	N	MedGen:C1850106,OMIM:259775,ORPHA:1832	7	286478	286478	NM_020223.3:c.956+5G>C		7:g.286478G>C	OMIM Allelic Variant:611061.0007	C1850106 259775 Raine syndrome
NM_020223.3(FAM20C):c.957-3C>G	56975	FAM20C	Pathogenic	796051851	RCV000001081;	N	MedGen:C1850106,OMIM:259775,ORPHA:1832	7	288278	288278	NM_020223.3:c.957-3C>G		7:g.288278C>G	OMIM Allelic Variant:611061.0004	C1850106 259775 Raine syndrome
NM_020223.3(FAM20C):c.982C>T (p.Pro328Ser)	56975	FAM20C	Pathogenic	797044462	RCV000023863;	N	MedGen:C1850106,OMIM:259775,ORPHA:1832	7	288306	288306	NM_020223.3:c.982C>T	NP_064608.2:p.Pro328Ser	7:g.288306C>T	OMIM Allelic Variant:611061.0012	C1850106 259775 Raine syndrome
NM_020223.3(FAM20C):c.1093G>C (p.Gly365Arg)	56975	FAM20C	Pathogenic	267606795	RCV000001078;	N	MedGen:C1850106,OMIM:259775,ORPHA:1832	7	295835	295835	NM_020223.3:c.1093G>C	NP_064608.2:p.Gly365Arg	NC_000007.13:g.295835G>C	OMIM Allelic Variant:611061.0001	C1850106 259775 Raine syndrome
NM_020223.3(FAM20C):c.1136G>A (p.Gly379Glu)	56975	FAM20C	Pathogenic	796051852	RCV000001082;	N	MedGen:C1850106,OMIM:259775,ORPHA:1832	7	295878	295878	NM_020223.3:c.1136G>A	NP_064608.2:p.Gly379Glu	7:g.295878G>A	OMIM Allelic Variant:611061.0005	C1850106 259775 Raine syndrome
NM_020223.3(FAM20C):c.1163T>G (p.Leu388Arg)	56975	FAM20C	Pathogenic	796051849	RCV000001079;	N	MedGen:C1850106,OMIM:259775,ORPHA:1832	7	295905	295905	NM_020223.3:c.1163T>G	NP_064608.2:p.Leu388Arg	7:g.295905T>G	OMIM Allelic Variant:611061.0002	C1850106 259775 Raine syndrome
NM_020223.3(FAM20C):c.1364-2A>G	56975	FAM20C	Pathogenic	796051853	RCV000001083;	N	MedGen:C1850106,OMIM:259775,ORPHA:1832	7	296969	296969	NM_020223.3:c.1364-2A>G		7:g.296969A>G	OMIM Allelic Variant:611061.0006	C1850106 259775 Raine syndrome
NM_020223.3(FAM20C):c.1446-1G>A	56975	FAM20C	Pathogenic	796051855	RCV000001085;	N	MedGen:C1850106,OMIM:259775,ORPHA:1832	7	298611	298611	NM_020223.3:c.1446-1G>A		7:g.298611G>A	OMIM Allelic Variant:611061.0008	C1850106 259775 Raine syndrome
NM_020223.3(FAM20C):c.1645C>T (p.Arg549Trp)	56975	FAM20C	Pathogenic	796051850	RCV000001080;	N	MedGen:C1850106,OMIM:259775,ORPHA:1832	7	299836	299836	NM_020223.3:c.1645C>T	NP_064608.2:p.Arg549Trp	7:g.299836C>T	OMIM Allelic Variant:611061.0003	C1850106 259775 Raine syndrome