SGMRT1
MCID: SNG011
MIFTS: 30

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 56 73 29 6
Sgmrt1 56 73
Syndrome, Singleton-Merten, Type 1 39

Characteristics:

OMIM:

56
Miscellaneous:
waddling gait
death in teens secondary to cardiac failure
following fever in infancy, muscular weakness and poor growth

Inheritance:
autosomal dominant


HPO:

31
singleton-merten syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Singleton-Merten Syndrome 1

OMIM : 56 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. An important gene associated with Singleton-Merten Syndrome 1 is IFIH1 (Interferon Induced With Helicase C Domain 1). Affiliated tissues include bone, heart and skin, and related phenotypes are muscular hypotonia and recurrent respiratory infections

UniProtKB/Swiss-Prot : 73 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 11.3

Symptoms & Phenotypes for Singleton-Merten Syndrome 1

Human phenotypes related to Singleton-Merten Syndrome 1:

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

Symptoms via clinical synopsis from OMIM:

56
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

Skeletal Pelvis:
coxa valga
hip subluxation
shallow acetabular fossa

Cardiovascular Vascular:
thoracic aorta calcification
aortic arch calcification

Skeletal Limbs:
hypoplastic distal radial epiphyses
genu valga

Head And Neck Teeth:
dental caries
unerupted teeth
hypoplastic tooth buds
immature root formation
acute root resorption
more
Growth Weight:
weight less than 3rd percentile

Head And Neck Mouth:
thin upper vermilion

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

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

Skeletal:
osteoporosis

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

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

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

Skeletal Skull:
maxillary hypoplasia
thickening of calvarium with age

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

Growth Other:
poor growth

Clinical features from OMIM:

182250

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:

40
Bone, Heart, Skin

Publications for Singleton-Merten Syndrome 1

Articles related to Singleton-Merten Syndrome 1:

# Title Authors PMID Year
1
A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. 56 6
25620204 2015
2
Singleton-merten syndrome and impaired cardiac function. 6 56
21070929 2010
3
Singleton-Merten syndrome: an autosomal dominant disorder with variable expression. 56
23322711 2013
4
A syndrome of widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness (the Singleton-Merten syndrome). 56
175395 1976
5
An unusual syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition. 56
4272099 1973

Variations for Singleton-Merten Syndrome 1

ClinVar genetic disease variations for Singleton-Merten Syndrome 1:

6 (show top 50) (show all 161) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IFIH1 NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln)SNV Pathogenic 189338 rs376048533 2:163128887-163128887 2:162272377-162272377
2 IFIH1 NM_022168.4(IFIH1):c.2336G>A (p.Arg779His)SNV Pathogenic/Likely pathogenic 137622 rs587777446 2:163130423-163130423 2:162273913-162273913
3 IFIH1 NM_022168.4(IFIH1):c.2936T>G (p.Leu979Trp)SNV Likely pathogenic 541770 rs1553696482 2:163123852-163123852 2:162267342-162267342
4 IFIH1 NM_022168.4(IFIH1):c.986T>C (p.Leu329Pro)SNV Likely pathogenic 577615 rs923064561 2:163144754-163144754 2:162288244-162288244
5 IFIH1 NM_022168.4(IFIH1):c.716dup (p.Met240fs)duplication Likely pathogenic 587596 rs1558875029 2:163163271-163163272 2:162306761-162306762
6 IFIH1 NM_022168.4(IFIH1):c.2402G>A (p.Cys801Tyr)SNV Likely pathogenic 801772 2:163130357-163130357 2:162273847-162273847
7 IFIH1 NM_022168.4(IFIH1):c.906G>A (p.Pro302=)SNV Conflicting interpretations of pathogenicity 705357 2:163144834-163144834 2:162288324-162288324
8 IFIH1 NM_022168.4(IFIH1):c.2016del (p.Asp673fs)deletion Conflicting interpretations of pathogenicity 580488 rs773033563 2:163133953-163133953 2:162277443-162277443
9 IFIH1 NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp)SNV Conflicting interpretations of pathogenicity 625959 rs74162075 2:163167419-163167419 2:162310909-162310909
10 IFIH1 NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr)SNV Conflicting interpretations of pathogenicity 541788 rs148369169 2:163130397-163130397 2:162273887-162273887
11 IFIH1 NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr)SNV Conflicting interpretations of pathogenicity 541784 rs150317197 2:163144674-163144674 2:162288164-162288164
12 IFIH1 NM_022168.4(IFIH1):c.1121G>A (p.Arg374His)SNV Conflicting interpretations of pathogenicity 425215 rs145520044 2:163139061-163139061 2:162282551-162282551
13 IFIH1 NM_022168.4(IFIH1):c.2919G>C (p.Val973=)SNV Conflicting interpretations of pathogenicity 435492 rs376116707 2:163123869-163123869 2:162267359-162267359
14 IFIH1 NM_022168.4(IFIH1):c.1312T>C (p.Ser438Pro)SNV Conflicting interpretations of pathogenicity 445430 rs139714761 2:163138050-163138050 2:162281540-162281540
15 IFIH1 NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys)SNV Conflicting interpretations of pathogenicity 474952 rs79324540 2:163128828-163128828 2:162272318-162272318
16 IFIH1 NM_022168.4(IFIH1):c.1641+1G>CSNV Conflicting interpretations of pathogenicity 261563 rs35337543 2:163136505-163136505 2:162279995-162279995
17 IFIH1 NM_022168.4(IFIH1):c.1166G>A (p.Gly389Glu)SNV Uncertain significance 291088 rs765985079 2:163139016-163139016 2:162282506-162282506
18 IFIH1 NM_022168.4(IFIH1):c.1558A>G (p.Thr520Ala)SNV Uncertain significance 444523 rs145641024 2:163136589-163136589 2:162280079-162280079
19 IFIH1 NM_022168.4(IFIH1):c.2459G>A (p.Arg820His)SNV Uncertain significance 426581 rs74162087 2:163128893-163128893 2:162272383-162272383
20 IFIH1 NM_022168.4(IFIH1):c.230G>A (p.Arg77Gln)SNV Uncertain significance 474949 rs367851471 2:163174588-163174588 2:162318078-162318078
21 IFIH1 NM_022168.4(IFIH1):c.418G>A (p.Glu140Lys)SNV Uncertain significance 474958 rs766508793 2:163174400-163174400 2:162317890-162317890
22 IFIH1 NC_000002.12:g.(?_162288115)_(162288375_?)deldeletion Uncertain significance 541792 2:163144625-163144885 2:162288115-162288375
23 IFIH1 NM_022168.4(IFIH1):c.2044+2T>CSNV Uncertain significance 541772 rs201026962 2:163133923-163133923 2:162277413-162277413
24 IFIH1 NM_022168.4(IFIH1):c.1886T>C (p.Phe629Ser)SNV Uncertain significance 541769 rs200980825 2:163134083-163134083 2:162277573-162277573
25 IFIH1 NM_022168.4(IFIH1):c.1095+1G>TSNV Uncertain significance 541778 rs140125523 2:163144644-163144644 2:162288134-162288134
26 IFIH1 NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys)SNV Uncertain significance 541774 rs575678322 2:163138939-163138939 2:162282429-162282429
27 IFIH1 NM_022168.4(IFIH1):c.580G>C (p.Val194Leu)SNV Uncertain significance 541771 rs1553461143 2:163167317-163167317 2:162310807-162310807
28 IFIH1 NM_022168.4(IFIH1):c.2597C>T (p.Pro866Leu)SNV Uncertain significance 541773 rs200833729 2:163128755-163128755 2:162272245-162272245
29 IFIH1 NM_022168.4(IFIH1):c.445A>G (p.Arg149Gly)SNV Uncertain significance 541775 rs74162074 2:163174373-163174373 2:162317863-162317863
30 IFIH1 NM_022168.4(IFIH1):c.2122A>G (p.Ile708Val)SNV Uncertain significance 541776 rs370796923 2:163133379-163133379 2:162276869-162276869
31 IFIH1 NM_022168.4(IFIH1):c.457G>T (p.Ala153Ser)SNV Uncertain significance 625960 rs781431529 2:163167440-163167440 2:162310930-162310930
32 IFIH1 NM_022168.4(IFIH1):c.2045-1G>ASNV Uncertain significance 636388 2:163133457-163133457 2:162276947-162276947
33 IFIH1 NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs)deletion Uncertain significance 638319 2:163133933-163133934 2:162277423-162277424
34 IFIH1 NM_022168.4(IFIH1):c.2998T>C (p.Tyr1000His)SNV Uncertain significance 644196 2:163123790-163123790 2:162267280-162267280
35 IFIH1 NM_022168.4(IFIH1):c.2872G>A (p.Gly958Ser)SNV Uncertain significance 653274 2:163124015-163124015 2:162267505-162267505
36 IFIH1 NM_022168.4(IFIH1):c.2857G>A (p.Asp953Asn)SNV Uncertain significance 663134 2:163124030-163124030 2:162267520-162267520
37 IFIH1 NM_022168.4(IFIH1):c.2831A>T (p.Asn944Ile)SNV Uncertain significance 665367 2:163124056-163124056 2:162267546-162267546
38 IFIH1 NM_022168.4(IFIH1):c.2793G>A (p.Met931Ile)SNV Uncertain significance 665183 2:163124611-163124611 2:162268101-162268101
39 IFIH1 NM_022168.4(IFIH1):c.2780A>G (p.His927Arg)SNV Uncertain significance 647748 2:163124624-163124624 2:162268114-162268114
40 IFIH1 NM_022168.4(IFIH1):c.2657T>C (p.Met886Thr)SNV Uncertain significance 649971 2:163124747-163124747 2:162268237-162268237
41 IFIH1 NM_022168.4(IFIH1):c.2548C>T (p.Arg850Ter)SNV Uncertain significance 653250 2:163128804-163128804 2:162272294-162272294
42 IFIH1 NM_022168.4(IFIH1):c.1948G>A (p.Asp650Asn)SNV Uncertain significance 664006 2:163134021-163134021 2:162277511-162277511
43 IFIH1 NM_022168.4(IFIH1):c.1865C>T (p.Ala622Val)SNV Uncertain significance 651855 2:163134104-163134104 2:162277594-162277594
44 IFIH1 NM_022168.4(IFIH1):c.1860A>G (p.Ile620Met)SNV Uncertain significance 648968 2:163134109-163134109 2:162277599-162277599
45 IFIH1 NM_022168.4(IFIH1):c.1806A>T (p.Glu602Asp)SNV Uncertain significance 665140 2:163134163-163134163 2:162277653-162277653
46 IFIH1 NM_022168.4(IFIH1):c.1475G>A (p.Gly492Asp)SNV Uncertain significance 663443 2:163137887-163137887 2:162281377-162281377
47 IFIH1 NM_022168.4(IFIH1):c.1142T>C (p.Leu381Ser)SNV Uncertain significance 646143 2:163139040-163139040 2:162282530-162282530
48 IFIH1 NM_022168.4(IFIH1):c.996G>T (p.Gly332=)SNV Uncertain significance 657655 2:163144744-163144744 2:162288234-162288234
49 IFIH1 NM_022168.4(IFIH1):c.949C>T (p.Gln317Ter)SNV Uncertain significance 644533 2:163144791-163144791 2:162288281-162288281
50 IFIH1 NM_022168.4(IFIH1):c.688C>T (p.Gln230Ter)SNV Uncertain significance 660028 2:163163300-163163300 2:162306790-162306790

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

73
# Symbol AA change Variation ID SNP ID
1 IFIH1 p.Arg822Gln VAR_073666 rs376048533

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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39 LOVD
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
71 UMLS
72 UMLS via Orphanet
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