Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
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expandAortic Diseases (D001018)
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expandDental Enamel Hypoplasia (D003744)
Parent Node:
expandMuscular Diseases (D009135)
Parent Node:
expandOdontodysplasia (D018126)
Parent Node:
expandOsteoporosis (D010024)
Parent Node:
expandVascular Calcification (D061205)
..Starting node
..expandSingleton Merten syndrome (C537343)

       Child Nodes:



 Sister Nodes: 
..expandArterial calcification of infancy (C537440)
..expandMonckeberg Medial Calcific Sclerosis (D050380)
..expandSingleton Merten syndrome (C537343)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10249
Name:Singleton Merten syndrome
Definition:
Alternative IDs:OMIM:182250
ParentIDs:MESH:D001018|MESH:D003744|MESH:D009135|MESH:D010024|MESH:D018126|MESH:D061205
TreeNumbers:C05.116.198.579/C537343 |C05.651/C537343 |C07.650.800.255/C537343 |C07.650.800.600/C537343 |C07.793.700.255/C537343 |C07.793.700.600/C537343 |C10.668.491/C537343 |C14.907.109/C537343 |C16.131.850.800.255/C537343 |C16.131.850.800.600/C537343 |C18.452.174.130.780/C5
Synonyms:Merten-Singleton syndrome |Singleton-Merten Syndrome
Slim Mappings:Cardiovascular disease|Congenital abnormality|Metabolic disease|Mouth disease|Musculoskeletal disease|Nervous system disease
Reference: MedGen: C537343
MeSH: C537343
OMIM: 182250;

Genes: IFIH1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0005303Aortic arch calcification
3 HP:0004380Aortic valve calcification
4 HP:0001650Aortic valve stenosis
5 HP:0000337Broad forehead
6 HP:0001640Cardiomegaly
7 HP:0000670Carious teeth
8 HP:0001635Congestive heart failure
9 HP:0002673Coxa valga
10 HP:0000992Cutaneous photosensitivity
11 HP:0004325Decreased body weight
12 HP:0000706Eruption failure
13 HP:0006232Expanded metacarpals with widened medullary cavities
14 HP:0008102Expanded metatarsals with widened medullary cavities
15 HP:0006112Expanded phalanges with widened medullary cavities
16 HP:0001290Generalized hypotonia
17 HP:0002857Genu valgum
18 HP:0000501Glaucoma
19 HP:0009890High anterior hairline
20 HP:0002827Hip dislocation
21 HP:0030043Hip subluxation
22 HP:0000327Hypoplasia of the maxilla
23 HP:0006353Hypoplasia of the tooth germ
24 HP:0006386Hypoplastic distal radial epiphyses
25 HP:0001252Hypotonia
26 HP:0004382Mitral valve calcification
27 HP:0001324Muscle weakness
28 HP:0000545Myopia
29 HP:0001806Onycholysis
30 HP:0009771Osteolytic defects of the phalanges of the hand
31 HP:0000939Osteoporosis
32 HP:0001761Pes cavus
33 HP:0002205Recurrent respiratory infections
34 HP:0003182Shallow acetabular fossae
35 HP:0004322Short stature
36 HP:0000319Smooth philtrum
37 HP:0001682Subvalvular aortic stenosis
38 HP:0001762Talipes equinovarus
39 HP:0100550Tendon rupture
40 HP:0002515Waddling gait
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_022168.3(IFIH1):c.2465G>A (p.Arg822Gln)64135IFIH1Pathogenic376048533RCV000169754; NMedGen:CN033178,OMIM:1822502163128887163128887NM_022168.3:c.2465G>ANP_071451.2:p.Arg822GlnNC_000002.11:g.163128887C>TOMIM Allelic Variant:606951.0009CN033178 182250 Singleton-Merten syndrome 1