SGMRT1
MCID: SNG011
MIFTS: 27

Singleton-Merten Syndrome 1 (SGMRT1)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Oral diseases, Rare diseases

Aliases & Classifications for Singleton-Merten Syndrome 1

MalaCards integrated aliases for Singleton-Merten Syndrome 1:

Name: Singleton-Merten Syndrome 1 57 75 29 6
Sgmrt1 57 75
Syndrome, Singleton-Merten, Type 1 40

Characteristics:

OMIM:

57
Miscellaneous:
waddling gait
death in teens secondary to cardiac failure
following fever in infancy, muscular weakness and poor growth

Inheritance:
autosomal dominant


HPO:

32
singleton-merten syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Singleton-Merten Syndrome 1

OMIM : 57 Singleton-Merten syndrome (SGMRT) is an uncommon autosomal dominant disorder characterized by abnormalities of blood vessels, teeth, and bone. Calcifications of the aorta and aortic and mitral valves occur in childhood or puberty and can lead to early death. Dental findings include delayed primary tooth exfoliation and permanent tooth eruption, truncated tooth root formation, early-onset periodontal disease, and severe root and alveolar bone resorption associated with dysregulated mineralization, leading to tooth loss. Osseous features consist of osteoporosis, either generalized or limited to distal extremities, distal limb osteolysis, widened medullary cavities, and easy tearing of tendons from bone. Less common features are mild facial dysmorphism (high anterior hair line, broad forehead, smooth philtrum, thin upper vermilion border), generalized muscle weakness, psoriasis, early-onset glaucoma, and recurrent infections. The disorder manifests with variable inter- and intrafamilial phenotypes (summary by Rutsch et al., 2015). (182250)

MalaCards based summary : Singleton-Merten Syndrome 1, also known as sgmrt1, is related to singleton-merten syndrome 2 and aicardi-goutieres syndrome 7. An important gene associated with Singleton-Merten Syndrome 1 is IFIH1 (Interferon Induced With Helicase C Domain 1). Affiliated tissues include bone, skin and heart, and related phenotypes are genu valgum and muscular hypotonia

UniProtKB/Swiss-Prot : 75 Singleton-Merten syndrome 1: An autosomal dominant disorder with variable expression. Core features are marked aortic calcification, dental anomalies, osteopenia, acro- osteolysis, and to a lesser extent glaucoma, psoriasis, muscle weakness, and joint laxity. Dental anomalies include delayed eruption and immature root formation of anterior permanent teeth, early loss of permanent teeth due to short roots, acute root resorption, high caries, and aggressive alveolar bone loss. Additional clinical manifestations include particular facial characteristics and abnormal joint and muscle ligaments.

Related Diseases for Singleton-Merten Syndrome 1

Diseases in the Singleton-Merten Syndrome family:

Singleton-Merten Syndrome 1 Singleton-Merten Syndrome 2

Diseases related to Singleton-Merten Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 singleton-merten syndrome 2 11.1
2 aicardi-goutieres syndrome 7 9.8 IFIH1 GCA
3 aicardi-goutieres syndrome 9.8 IFIH1 GCA
4 singleton-merten syndrome 9.7 IFIH1 GCA

Symptoms & Phenotypes for Singleton-Merten Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscle weakness
tendon rupture
hypotonia
nonspecific muscle fiber atrophy

Head And Neck Face:
smooth philtrum
broad forehead
high anterior hairline

Skeletal:
osteoporosis

Skeletal Pelvis:
coxa valga
shallow acetabular fossa
hip subluxation

Skeletal Feet:
pes cavus
talipes equinovarus
expanded metatarsals with widened medullary cavities

Cardiovascular Vascular:
thoracic aorta calcification
aortic arch calcification

Head And Neck Teeth:
dental caries
unerupted teeth
hypoplastic tooth buds
immature root formation
acute root resorption
more
Skeletal Limbs:
genu valga
hypoplastic distal radial epiphyses

Growth Other:
poor growth

Skeletal Hands:
expanded phalanges with widened medullary cavities
expanded metacarpals with widened medullary cavities
acro-osteolysis

Respiratory:
recurrent respiratory infections

Growth Height:
short stature
height less than 3rd percentile

Cardiovascular Heart:
cardiomegaly
mitral valve calcification
aortic valve calcification
subaortic stenosis
aortic stenosis
more
Head And Neck Eyes:
myopia
glaucoma

Skin Nails Hair Nails:
onycholysis
subungual calcifications (in some patients)

Skeletal Skull:
maxillary hypoplasia
thickening of calvarium with age

Skin Nails Hair Skin:
photosensitivity
psoriasiform skin lesions
dry, scaly skin

Growth Weight:
weight less than 3rd percentile

Head And Neck Mouth:
thin upper vermilion


Clinical features from OMIM:

182250

Human phenotypes related to Singleton-Merten Syndrome 1:

32 (show all 40)
# Description HPO Frequency HPO Source Accession
1 genu valgum 32 HP:0002857
2 muscular hypotonia 32 HP:0001252
3 muscle weakness 32 HP:0001324
4 recurrent respiratory infections 32 HP:0002205
5 carious teeth 32 HP:0000670
6 smooth philtrum 32 HP:0000319
7 short stature 32 HP:0004322
8 osteoporosis 32 HP:0000939
9 cardiomegaly 32 HP:0001640
10 coxa valga 32 HP:0002673
11 congestive heart failure 32 HP:0001635
12 myopia 32 HP:0000545
13 pes cavus 32 HP:0001761
14 waddling gait 32 HP:0002515
15 talipes equinovarus 32 HP:0001762
16 hip dislocation 32 HP:0002827
17 broad forehead 32 HP:0000337
18 hypoplasia of the maxilla 32 HP:0000327
19 glaucoma 32 HP:0000501
20 mitral valve calcification 32 HP:0004382
21 cutaneous photosensitivity 32 HP:0000992
22 decreased body weight 32 HP:0004325
23 muscle fiber atrophy 32 HP:0100295
24 generalized hypotonia 32 HP:0001290
25 aortic valve stenosis 32 HP:0001650
26 aortic valve calcification 32 HP:0004380
27 tendon rupture 32 HP:0100550
28 high anterior hairline 32 HP:0009890
29 onycholysis 32 HP:0001806
30 osteolytic defects of the phalanges of the hand 32 HP:0009771
31 shallow acetabular fossae 32 HP:0003182
32 hypoplasia of the tooth germ 32 HP:0006353
33 aortic arch calcification 32 HP:0005303
34 hip subluxation 32 HP:0030043
35 hypoplastic distal radial epiphyses 32 HP:0006386
36 expanded phalanges with widened medullary cavities 32 HP:0006112
37 expanded metacarpals with widened medullary cavities 32 HP:0006232
38 expanded metatarsals with widened medullary cavities 32 HP:0008102
39 subvalvular aortic stenosis 32 HP:0001682
40 unerupted tooth 32 HP:0000706

Drugs & Therapeutics for Singleton-Merten Syndrome 1

Search Clinical Trials , NIH Clinical Center for Singleton-Merten Syndrome 1

Genetic Tests for Singleton-Merten Syndrome 1

Genetic tests related to Singleton-Merten Syndrome 1:

# Genetic test Affiliating Genes
1 Singleton-Merten Syndrome 1 29 IFIH1

Anatomical Context for Singleton-Merten Syndrome 1

MalaCards organs/tissues related to Singleton-Merten Syndrome 1:

41
Bone, Skin, Heart

Publications for Singleton-Merten Syndrome 1

Variations for Singleton-Merten Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Singleton-Merten Syndrome 1:

75
# Symbol AA change Variation ID SNP ID
1 IFIH1 p.Arg822Gln VAR_073666 rs376048533

ClinVar genetic disease variations for Singleton-Merten Syndrome 1:

6 (show top 50) (show all 112)
# Gene Variation Type Significance SNP ID Assembly Location
1 IFIH1 NM_022168.3(IFIH1): c.2465G> A (p.Arg822Gln) single nucleotide variant Pathogenic rs376048533 GRCh37 Chromosome 2, 163128887: 163128887
2 IFIH1 NM_022168.3(IFIH1): c.2465G> A (p.Arg822Gln) single nucleotide variant Pathogenic rs376048533 GRCh38 Chromosome 2, 162272377: 162272377
3 IFIH1 NM_022168.3(IFIH1): c.1641+1G> C single nucleotide variant Conflicting interpretations of pathogenicity rs35337543 GRCh38 Chromosome 2, 162279995: 162279995
4 IFIH1 NM_022168.3(IFIH1): c.1641+1G> C single nucleotide variant Conflicting interpretations of pathogenicity rs35337543 GRCh37 Chromosome 2, 163136505: 163136505
5 IFIH1 NM_022168.3(IFIH1): c.1879G> T (p.Glu627Ter) single nucleotide variant Benign/Likely benign rs35744605 GRCh37 Chromosome 2, 163134090: 163134090
6 IFIH1 NM_022168.3(IFIH1): c.1879G> T (p.Glu627Ter) single nucleotide variant Benign/Likely benign rs35744605 GRCh38 Chromosome 2, 162277580: 162277580
7 IFIH1 NM_022168.3(IFIH1): c.2020_2023delAGAT (p.Arg674Phefs) deletion Likely benign rs569337014 GRCh37 Chromosome 2, 163133946: 163133949
8 IFIH1 NM_022168.3(IFIH1): c.2020_2023delAGAT (p.Arg674Phefs) deletion Likely benign rs569337014 GRCh38 Chromosome 2, 162277436: 162277439
9 IFIH1 NM_022168.3(IFIH1): c.1121G> A (p.Arg374His) single nucleotide variant Conflicting interpretations of pathogenicity rs145520044 GRCh37 Chromosome 2, 163139061: 163139061
10 IFIH1 NM_022168.3(IFIH1): c.1121G> A (p.Arg374His) single nucleotide variant Conflicting interpretations of pathogenicity rs145520044 GRCh38 Chromosome 2, 162282551: 162282551
11 IFIH1 NM_022168.3(IFIH1): c.2459G> A (p.Arg820His) single nucleotide variant Uncertain significance rs74162087 GRCh37 Chromosome 2, 163128893: 163128893
12 IFIH1 NM_022168.3(IFIH1): c.2459G> A (p.Arg820His) single nucleotide variant Uncertain significance rs74162087 GRCh38 Chromosome 2, 162272383: 162272383
13 IFIH1 NM_022168.4(IFIH1): c.1312T> C (p.Ser438Pro) single nucleotide variant Uncertain significance rs139714761 GRCh37 Chromosome 2, 163138050: 163138050
14 IFIH1 NM_022168.4(IFIH1): c.1312T> C (p.Ser438Pro) single nucleotide variant Uncertain significance rs139714761 GRCh38 Chromosome 2, 162281540: 162281540
15 IFIH1 NM_022168.3(IFIH1): c.2784C> T (p.His928=) single nucleotide variant Benign rs145187664 GRCh38 Chromosome 2, 162268110: 162268110
16 IFIH1 NM_022168.3(IFIH1): c.2784C> T (p.His928=) single nucleotide variant Benign rs145187664 GRCh37 Chromosome 2, 163124620: 163124620
17 IFIH1 NM_022168.3(IFIH1): c.2767A> G (p.Ile923Val) single nucleotide variant Benign rs35667974 GRCh38 Chromosome 2, 162268127: 162268127
18 IFIH1 NM_022168.3(IFIH1): c.2767A> G (p.Ile923Val) single nucleotide variant Benign rs35667974 GRCh37 Chromosome 2, 163124637: 163124637
19 IFIH1 NM_022168.3(IFIH1): c.2524G> A (p.Glu842Lys) single nucleotide variant Uncertain significance rs79324540 GRCh38 Chromosome 2, 162272318: 162272318
20 IFIH1 NM_022168.3(IFIH1): c.2524G> A (p.Glu842Lys) single nucleotide variant Uncertain significance rs79324540 GRCh37 Chromosome 2, 163128828: 163128828
21 IFIH1 NM_022168.3(IFIH1): c.2196T> C (p.Tyr732=) single nucleotide variant Likely benign rs147175706 GRCh38 Chromosome 2, 162276795: 162276795
22 IFIH1 NM_022168.3(IFIH1): c.2196T> C (p.Tyr732=) single nucleotide variant Likely benign rs147175706 GRCh37 Chromosome 2, 163133305: 163133305
23 IFIH1 NM_022168.3(IFIH1): c.230G> A (p.Arg77Gln) single nucleotide variant Uncertain significance rs367851471 GRCh38 Chromosome 2, 162318078: 162318078
24 IFIH1 NM_022168.3(IFIH1): c.230G> A (p.Arg77Gln) single nucleotide variant Uncertain significance rs367851471 GRCh37 Chromosome 2, 163174588: 163174588
25 IFIH1 NM_022168.3(IFIH1): c.2469C> T (p.Ala823=) single nucleotide variant Benign rs13418718 GRCh38 Chromosome 2, 162272373: 162272373
26 IFIH1 NM_022168.3(IFIH1): c.2469C> T (p.Ala823=) single nucleotide variant Benign rs13418718 GRCh37 Chromosome 2, 163128883: 163128883
27 IFIH1 NM_022168.3(IFIH1): c.2455-7T> A single nucleotide variant Benign rs41399348 GRCh38 Chromosome 2, 162272394: 162272394
28 IFIH1 NM_022168.3(IFIH1): c.2455-7T> A single nucleotide variant Benign rs41399348 GRCh37 Chromosome 2, 163128904: 163128904
29 IFIH1 NM_022168.3(IFIH1): c.2785G> A (p.Val929Ile) single nucleotide variant Benign rs140562355 GRCh37 Chromosome 2, 163124619: 163124619
30 IFIH1 NM_022168.3(IFIH1): c.2785G> A (p.Val929Ile) single nucleotide variant Benign rs140562355 GRCh38 Chromosome 2, 162268109: 162268109
31 IFIH1 NM_022168.3(IFIH1): c.2946C> T (p.Leu982=) single nucleotide variant Benign rs74162089 GRCh38 Chromosome 2, 162267332: 162267332
32 IFIH1 NM_022168.3(IFIH1): c.2946C> T (p.Leu982=) single nucleotide variant Benign rs74162089 GRCh37 Chromosome 2, 163123842: 163123842
33 IFIH1 NM_022168.3(IFIH1): c.2454+6T> C single nucleotide variant Benign rs6748554 GRCh38 Chromosome 2, 162273789: 162273789
34 IFIH1 NM_022168.3(IFIH1): c.2454+6T> C single nucleotide variant Benign rs6748554 GRCh37 Chromosome 2, 163130299: 163130299
35 IFIH1 NM_022168.3(IFIH1): c.418G> A (p.Glu140Lys) single nucleotide variant Uncertain significance rs766508793 GRCh38 Chromosome 2, 162317890: 162317890
36 IFIH1 NM_022168.3(IFIH1): c.418G> A (p.Glu140Lys) single nucleotide variant Uncertain significance rs766508793 GRCh37 Chromosome 2, 163174400: 163174400
37 IFIH1 NM_022168.3(IFIH1): c.258C> G (p.Thr86=) single nucleotide variant Benign rs143870870 GRCh38 Chromosome 2, 162318050: 162318050
38 IFIH1 NM_022168.3(IFIH1): c.258C> G (p.Thr86=) single nucleotide variant Benign rs143870870 GRCh37 Chromosome 2, 163174560: 163174560
39 IFIH1 NC_000002.12: g.(?_162288115)_(162288375_?)del deletion Uncertain significance GRCh37 Chromosome 2, 163144625: 163144885
40 IFIH1 NC_000002.12: g.(?_162288115)_(162288375_?)del deletion Uncertain significance GRCh38 Chromosome 2, 162288115: 162288375
41 IFIH1 NM_022168.3(IFIH1): c.2937G> A (p.Leu979=) single nucleotide variant Likely benign rs372007025 GRCh38 Chromosome 2, 162267341: 162267341
42 IFIH1 NM_022168.3(IFIH1): c.2937G> A (p.Leu979=) single nucleotide variant Likely benign rs372007025 GRCh37 Chromosome 2, 163123851: 163123851
43 IFIH1 NM_022168.3(IFIH1): c.2597C> T (p.Pro866Leu) single nucleotide variant Uncertain significance rs200833729 GRCh38 Chromosome 2, 162272245: 162272245
44 IFIH1 NM_022168.3(IFIH1): c.2597C> T (p.Pro866Leu) single nucleotide variant Uncertain significance rs200833729 GRCh37 Chromosome 2, 163128755: 163128755
45 IFIH1 NM_022168.3(IFIH1): c.445A> G (p.Arg149Gly) single nucleotide variant Uncertain significance rs74162074 GRCh38 Chromosome 2, 162317863: 162317863
46 IFIH1 NM_022168.3(IFIH1): c.445A> G (p.Arg149Gly) single nucleotide variant Uncertain significance rs74162074 GRCh37 Chromosome 2, 163174373: 163174373
47 IFIH1 NM_022168.3(IFIH1): c.2807+1G> A single nucleotide variant Benign rs35732034 GRCh38 Chromosome 2, 162268086: 162268086
48 IFIH1 NM_022168.3(IFIH1): c.2807+1G> A single nucleotide variant Benign rs35732034 GRCh37 Chromosome 2, 163124596: 163124596
49 IFIH1 NM_022168.3(IFIH1): c.2122A> G (p.Ile708Val) single nucleotide variant Uncertain significance rs370796923 GRCh38 Chromosome 2, 162276869: 162276869
50 IFIH1 NM_022168.3(IFIH1): c.2122A> G (p.Ile708Val) single nucleotide variant Uncertain significance rs370796923 GRCh37 Chromosome 2, 163133379: 163133379

Expression for Singleton-Merten Syndrome 1

Search GEO for disease gene expression data for Singleton-Merten Syndrome 1.

Pathways for Singleton-Merten Syndrome 1

GO Terms for Singleton-Merten Syndrome 1

Sources for Singleton-Merten Syndrome 1

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