MCID: SNG011
MIFTS: 27

Singleton-Merten Syndrome 1

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Blood diseases, Muscle 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 smooth philtrum and hypoplasia of the maxilla

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 extend 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 11.0
2 aicardi-goutieres syndrome 7 9.3 GCA IFIH1
3 singleton-merten syndrome 9.2 GCA IFIH1
4 aicardi-goutieres syndrome 9.0 GCA IFIH1

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

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 84)
# 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 Benign rs35337543 GRCh38 Chromosome 2, 162279995: 162279995
4 IFIH1 NM_022168.3(IFIH1): c.1641+1G> C single nucleotide variant Benign 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 Likely benign rs145520044 GRCh37 Chromosome 2, 163139061: 163139061
10 IFIH1 NM_022168.3(IFIH1): c.1121G> A (p.Arg374His) single nucleotide variant Likely benign 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_022168.3(IFIH1): c.2784C> T (p.His928=) single nucleotide variant Benign rs145187664 GRCh38 Chromosome 2, 162268110: 162268110
14 IFIH1 NM_022168.3(IFIH1): c.2784C> T (p.His928=) single nucleotide variant Benign rs145187664 GRCh37 Chromosome 2, 163124620: 163124620
15 IFIH1 NM_022168.3(IFIH1): c.2767A> G (p.Ile923Val) single nucleotide variant Benign rs35667974 GRCh37 Chromosome 2, 163124637: 163124637
16 IFIH1 NM_022168.3(IFIH1): c.2767A> G (p.Ile923Val) single nucleotide variant Benign rs35667974 GRCh38 Chromosome 2, 162268127: 162268127
17 IFIH1 NM_022168.3(IFIH1): c.2524G> A (p.Glu842Lys) single nucleotide variant Uncertain significance rs79324540 GRCh38 Chromosome 2, 162272318: 162272318
18 IFIH1 NM_022168.3(IFIH1): c.2524G> A (p.Glu842Lys) single nucleotide variant Uncertain significance rs79324540 GRCh37 Chromosome 2, 163128828: 163128828
19 IFIH1 NM_022168.3(IFIH1): c.2196T> C (p.Tyr732=) single nucleotide variant Likely benign rs147175706 GRCh38 Chromosome 2, 162276795: 162276795
20 IFIH1 NM_022168.3(IFIH1): c.2196T> C (p.Tyr732=) single nucleotide variant Likely benign rs147175706 GRCh37 Chromosome 2, 163133305: 163133305
21 IFIH1 NM_022168.3(IFIH1): c.230G> A (p.Arg77Gln) single nucleotide variant Uncertain significance rs367851471 GRCh38 Chromosome 2, 162318078: 162318078
22 IFIH1 NM_022168.3(IFIH1): c.230G> A (p.Arg77Gln) single nucleotide variant Uncertain significance rs367851471 GRCh37 Chromosome 2, 163174588: 163174588
23 IFIH1 NM_022168.3(IFIH1): c.2469C> T (p.Ala823=) single nucleotide variant Benign rs13418718 GRCh37 Chromosome 2, 163128883: 163128883
24 IFIH1 NM_022168.3(IFIH1): c.2469C> T (p.Ala823=) single nucleotide variant Benign rs13418718 GRCh38 Chromosome 2, 162272373: 162272373
25 IFIH1 NM_022168.3(IFIH1): c.2455-7T> A single nucleotide variant Benign rs41399348 GRCh37 Chromosome 2, 163128904: 163128904
26 IFIH1 NM_022168.3(IFIH1): c.2455-7T> A single nucleotide variant Benign rs41399348 GRCh38 Chromosome 2, 162272394: 162272394
27 IFIH1 NM_022168.3(IFIH1): c.2785G> A (p.Val929Ile) single nucleotide variant Benign rs140562355 GRCh38 Chromosome 2, 162268109: 162268109
28 IFIH1 NM_022168.3(IFIH1): c.2785G> A (p.Val929Ile) single nucleotide variant Benign rs140562355 GRCh37 Chromosome 2, 163124619: 163124619
29 IFIH1 NM_022168.3(IFIH1): c.2946C> T (p.Leu982=) single nucleotide variant Benign rs74162089 GRCh37 Chromosome 2, 163123842: 163123842
30 IFIH1 NM_022168.3(IFIH1): c.2946C> T (p.Leu982=) single nucleotide variant Benign rs74162089 GRCh38 Chromosome 2, 162267332: 162267332
31 IFIH1 NM_022168.3(IFIH1): c.2454+6T> C single nucleotide variant Benign rs6748554 GRCh37 Chromosome 2, 163130299: 163130299
32 IFIH1 NM_022168.3(IFIH1): c.2454+6T> C single nucleotide variant Benign rs6748554 GRCh38 Chromosome 2, 162273789: 162273789
33 IFIH1 NM_022168.3(IFIH1): c.418G> A (p.Glu140Lys) single nucleotide variant Uncertain significance rs766508793 GRCh38 Chromosome 2, 162317890: 162317890
34 IFIH1 NM_022168.3(IFIH1): c.418G> A (p.Glu140Lys) single nucleotide variant Uncertain significance rs766508793 GRCh37 Chromosome 2, 163174400: 163174400
35 IFIH1 NM_022168.3(IFIH1): c.258C> G (p.Thr86=) single nucleotide variant Benign rs143870870 GRCh38 Chromosome 2, 162318050: 162318050
36 IFIH1 NM_022168.3(IFIH1): c.258C> G (p.Thr86=) single nucleotide variant Benign rs143870870 GRCh37 Chromosome 2, 163174560: 163174560
37 IFIH1 NC_000002.12: g.(?_162288115)_(162288375_?)del deletion Uncertain significance GRCh38 Chromosome 2, 162288115: 162288375
38 IFIH1 NC_000002.12: g.(?_162288115)_(162288375_?)del deletion Uncertain significance GRCh37 Chromosome 2, 163144625: 163144885
39 IFIH1 NM_022168.3(IFIH1): c.2937G> A (p.Leu979=) single nucleotide variant Likely benign rs372007025 GRCh38 Chromosome 2, 162267341: 162267341
40 IFIH1 NM_022168.3(IFIH1): c.2937G> A (p.Leu979=) single nucleotide variant Likely benign rs372007025 GRCh37 Chromosome 2, 163123851: 163123851
41 IFIH1 NM_022168.3(IFIH1): c.2597C> T (p.Pro866Leu) single nucleotide variant Uncertain significance rs200833729 GRCh37 Chromosome 2, 163128755: 163128755
42 IFIH1 NM_022168.3(IFIH1): c.2597C> T (p.Pro866Leu) single nucleotide variant Uncertain significance rs200833729 GRCh38 Chromosome 2, 162272245: 162272245
43 IFIH1 NM_022168.3(IFIH1): c.445A> G (p.Arg149Gly) single nucleotide variant Uncertain significance rs74162074 GRCh38 Chromosome 2, 162317863: 162317863
44 IFIH1 NM_022168.3(IFIH1): c.445A> G (p.Arg149Gly) single nucleotide variant Uncertain significance rs74162074 GRCh37 Chromosome 2, 163174373: 163174373
45 IFIH1 NM_022168.3(IFIH1): c.2807+1G> A single nucleotide variant Benign rs35732034 GRCh38 Chromosome 2, 162268086: 162268086
46 IFIH1 NM_022168.3(IFIH1): c.2807+1G> A single nucleotide variant Benign rs35732034 GRCh37 Chromosome 2, 163124596: 163124596
47 IFIH1 NM_022168.3(IFIH1): c.2122A> G (p.Ile708Val) single nucleotide variant Uncertain significance rs370796923 GRCh37 Chromosome 2, 163133379: 163133379
48 IFIH1 NM_022168.3(IFIH1): c.2122A> G (p.Ile708Val) single nucleotide variant Uncertain significance rs370796923 GRCh38 Chromosome 2, 162276869: 162276869
49 IFIH1 NM_022168.3(IFIH1): c.2105C> T (p.Thr702Ile) single nucleotide variant Likely benign rs72650663 GRCh37 Chromosome 2, 163133396: 163133396
50 IFIH1 NM_022168.3(IFIH1): c.2105C> T (p.Thr702Ile) single nucleotide variant Likely benign rs72650663 GRCh38 Chromosome 2, 162276886: 162276886

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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