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 57 73 29 6
Sgmrt1 57 73
Syndrome, Singleton-Merten, Type 1 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® : 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) (Updated 05-Mar-2021)

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 and heart, and related phenotypes are muscle weakness 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 11.0

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 muscle weakness 31 HP:0001324
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 cardiomegaly 31 HP:0001640
7 genu valgum 31 HP:0002857
8 congestive heart failure 31 HP:0001635
9 osteoporosis 31 HP:0000939
10 myopia 31 HP:0000545
11 waddling gait 31 HP:0002515
12 talipes equinovarus 31 HP:0001762
13 hypoplasia of the maxilla 31 HP:0000327
14 glaucoma 31 HP:0000501
15 mitral valve calcification 31 HP:0004382
16 hip dislocation 31 HP:0002827
17 broad forehead 31 HP:0000337
18 high anterior hairline 31 HP:0009890
19 pes cavus 31 HP:0001761
20 cutaneous photosensitivity 31 HP:0000992
21 coxa valga 31 HP:0002673
22 decreased body weight 31 HP:0004325
23 aortic valve calcification 31 HP:0004380
24 tendon rupture 31 HP:0100550
25 aortic valve stenosis 31 HP:0001650
26 generalized hypotonia 31 HP:0001290
27 onycholysis 31 HP:0001806
28 subvalvular aortic stenosis 31 HP:0001682
29 hip subluxation 31 HP:0030043
30 muscle fiber atrophy 31 HP:0100295
31 shallow acetabular fossae 31 HP:0003182
32 osteolytic defects of the phalanges of the hand 31 HP:0009771
33 hypoplasia of the tooth germ 31 HP:0006353
34 unerupted tooth 31 HP:0000706
35 hypotonia 31 HP:0001252
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®:

57 (Updated 05-Mar-2021)
Muscle Soft Tissue:
muscle weakness
tendon rupture
hypotonia
nonspecific muscle fiber atrophy

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

Cardiovascular Heart:
cardiomegaly
mitral valve calcification
aortic valve calcification
aortic stenosis
subaortic 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

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

Respiratory:
recurrent respiratory infections

Growth Height:
short stature
height less than 3rd percentile

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

Head And Neck Teeth:
dental caries
unerupted teeth
hypoplastic tooth buds
immature root formation
acute root resorption
more
Growth Other:
poor growth

Clinical features from OMIM®:

182250 (Updated 05-Mar-2021)

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

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. 57 6
25620204 2015
2
Singleton-merten syndrome and impaired cardiac function. 57 6
21070929 2010
3
Singleton-Merten syndrome: an autosomal dominant disorder with variable expression. 57
23322711 2013
4
A syndrome of widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness (the Singleton-Merten syndrome). 57
175395 1976
5
An unusual syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition. 57
4272099 1973

Variations for Singleton-Merten Syndrome 1

ClinVar genetic disease variations for Singleton-Merten Syndrome 1:

6 (show top 50) (show all 208)
# 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.2465G>A (p.Arg822Gln) SNV Pathogenic 189338 rs376048533 2:163128887-163128887 2:162272377-162272377
3 IFIH1 NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) SNV Pathogenic 137622 rs587777446 2:163130423-163130423 2:162273913-162273913
4 IFIH1 NM_022168.4(IFIH1):c.716dup (p.Met240fs) Duplication Likely pathogenic 587596 rs1558875029 2:163163271-163163272 2:162306761-162306762
5 IFIH1 NM_022168.4(IFIH1):c.986T>C (p.Leu329Pro) SNV Likely pathogenic 577615 rs923064561 2:163144754-163144754 2:162288244-162288244
6 IFIH1 NM_022168.4(IFIH1):c.2936T>G (p.Leu979Trp) SNV Likely pathogenic 541770 rs1553696482 2:163123852-163123852 2:162267342-162267342
7 IFIH1 NM_022168.4(IFIH1):c.2402G>A (p.Cys801Tyr) SNV Likely pathogenic 801772 rs1576222807 2:163130357-163130357 2:162273847-162273847
8 IFIH1 NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu) SNV Conflicting interpretations of pathogenicity 705603 rs144455277 2:163124024-163124024 2:162267514-162267514
9 IFIH1 NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys) SNV Conflicting interpretations of pathogenicity 474952 rs79324540 2:163128828-163128828 2:162272318-162272318
10 IFIH1 NM_022168.4(IFIH1):c.1641+1G>C SNV Conflicting interpretations of pathogenicity 261563 rs35337543 2:163136505-163136505 2:162279995-162279995
11 IFIH1 NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp) SNV Conflicting interpretations of pathogenicity 625959 rs74162075 2:163167419-163167419 2:162310909-162310909
12 IFIH1 NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) SNV Conflicting interpretations of pathogenicity 541784 rs150317197 2:163144674-163144674 2:162288164-162288164
13 IFIH1 NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) SNV Conflicting interpretations of pathogenicity 541788 rs148369169 2:163130397-163130397 2:162273887-162273887
14 IFIH1 NM_022168.4(IFIH1):c.1641+2T>C SNV Uncertain significance 834133 2:163136504-163136504 2:162279994-162279994
15 IFIH1 NM_022168.4(IFIH1):c.1486G>A (p.Ala496Thr) SNV Uncertain significance 834571 2:163137876-163137876 2:162281366-162281366
16 IFIH1 NM_022168.4(IFIH1):c.1303T>A (p.Ser435Thr) SNV Uncertain significance 836508 2:163138879-163138879 2:162282369-162282369
17 IFIH1 NM_022168.4(IFIH1):c.3055del (p.Cys1019fs) Deletion Uncertain significance 836873 2:163123733-163123733 2:162267223-162267223
18 IFIH1 NM_022168.4(IFIH1):c.2216_2222del (p.Thr739fs) Deletion Uncertain significance 837605 2:163133279-163133285 2:162276769-162276775
19 IFIH1 NM_022168.4(IFIH1):c.1589del (p.Asn530fs) Deletion Uncertain significance 837942 2:163136558-163136558 2:162280048-162280048
20 IFIH1 NM_022168.4(IFIH1):c.1558A>G (p.Thr520Ala) SNV Uncertain significance 444523 rs145641024 2:163136589-163136589 2:162280079-162280079
21 IFIH1 NM_022168.4(IFIH1):c.2641A>G (p.Ile881Val) SNV Uncertain significance 842968 2:163124763-163124763 2:162268253-162268253
22 IFIH1 NM_022168.4(IFIH1):c.2788A>G (p.Asn930Asp) SNV Uncertain significance 843149 2:163124616-163124616 2:162268106-162268106
23 IFIH1 NM_022168.4(IFIH1):c.1222G>A (p.Asp408Asn) SNV Uncertain significance 844159 2:163138960-163138960 2:162282450-162282450
24 IFIH1 NM_022168.4(IFIH1):c.1710G>A (p.Met570Ile) SNV Uncertain significance 845324 2:163134770-163134770 2:162278260-162278260
25 IFIH1 NM_022168.4(IFIH1):c.556C>T (p.Arg186Cys) SNV Uncertain significance 845631 2:163167341-163167341 2:162310831-162310831
26 IFIH1 NM_022168.4(IFIH1):c.145A>G (p.Thr49Ala) SNV Uncertain significance 848148 2:163174673-163174673 2:162318163-162318163
27 IFIH1 NM_022168.4(IFIH1):c.1853G>A (p.Arg618Gln) SNV Uncertain significance 849039 2:163134116-163134116 2:162277606-162277606
28 IFIH1 NM_022168.4(IFIH1):c.2191G>T (p.Ala731Ser) SNV Uncertain significance 849273 2:163133310-163133310 2:162276800-162276800
29 IFIH1 NM_022168.4(IFIH1):c.285G>A (p.Met95Ile) SNV Uncertain significance 851462 2:163174533-163174533 2:162318023-162318023
30 IFIH1 NM_022168.4(IFIH1):c.1745C>T (p.Ala582Val) SNV Uncertain significance 852349 2:163134735-163134735 2:162278225-162278225
31 IFIH1 NM_022168.4(IFIH1):c.2616+6G>A SNV Uncertain significance 852801 2:163128730-163128730 2:162272220-162272220
32 IFIH1 NM_022168.4(IFIH1):c.2259T>G (p.His753Gln) SNV Uncertain significance 855667 2:163133242-163133242 2:162276732-162276732
33 IFIH1 NM_022168.4(IFIH1):c.1874A>T (p.His625Leu) SNV Uncertain significance 855752 2:163134095-163134095 2:162277585-162277585
34 IFIH1 NM_022168.4(IFIH1):c.1927G>T (p.Asp643Tyr) SNV Uncertain significance 855766 2:163134042-163134042 2:162277532-162277532
35 IFIH1 NM_022168.4(IFIH1):c.1535A>G (p.Asn512Ser) SNV Uncertain significance 857407 2:163136612-163136612 2:162280102-162280102
36 IFIH1 NM_022168.4(IFIH1):c.2428G>A (p.Val810Ile) SNV Uncertain significance 857685 2:163130331-163130331 2:162273821-162273821
37 IFIH1 NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs) Deletion Uncertain significance 638319 rs774076578 2:163133933-163133934 2:162277423-162277424
38 IFIH1 NM_022168.4(IFIH1):c.229C>A (p.Arg77=) SNV Uncertain significance 858398 2:163174589-163174589 2:162318079-162318079
39 IFIH1 NM_022168.4(IFIH1):c.2561T>G (p.Met854Arg) SNV Uncertain significance 858942 2:163128791-163128791 2:162272281-162272281
40 IFIH1 NM_022168.4(IFIH1):c.217C>T (p.Leu73Phe) SNV Uncertain significance 859413 2:163174601-163174601 2:162318091-162318091
41 IFIH1 NM_022168.4(IFIH1):c.1153T>C (p.Tyr385His) SNV Uncertain significance 860770 2:163139029-163139029 2:162282519-162282519
42 IFIH1 NM_022168.4(IFIH1):c.2642T>C (p.Ile881Thr) SNV Uncertain significance 860887 2:163124762-163124762 2:162268252-162268252
43 IFIH1 NM_022168.4(IFIH1):c.2392A>G (p.Ile798Val) SNV Uncertain significance 861040 2:163130367-163130367 2:162273857-162273857
44 IFIH1 NM_022168.4(IFIH1):c.1962T>G (p.Cys654Trp) SNV Uncertain significance 863053 2:163134007-163134007 2:162277497-162277497
45 IFIH1 NM_022168.4(IFIH1):c.643G>A (p.Val215Ile) SNV Uncertain significance 863462 2:163163345-163163345 2:162306835-162306835
46 IFIH1 NM_022168.4(IFIH1):c.1120C>T (p.Arg374Cys) SNV Uncertain significance 863575 2:163139062-163139062 2:162282552-162282552
47 IFIH1 NM_022168.4(IFIH1):c.2761C>T (p.His921Tyr) SNV Uncertain significance 863672 2:163124643-163124643 2:162268133-162268133
48 IFIH1 NM_022168.4(IFIH1):c.1063G>T (p.Glu355Ter) SNV Uncertain significance 863752 2:163144677-163144677 2:162288167-162288167
49 IFIH1 NM_022168.4(IFIH1):c.2101del (p.Lys700_Leu701insTer) Deletion Uncertain significance 864715 2:163133400-163133400 2:162276890-162276890
50 IFIH1 NM_022168.4(IFIH1):c.2459G>C (p.Arg820Pro) SNV Uncertain significance 587614 rs74162087 2:163128893-163128893 2:162272383-162272383

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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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