Singleton-Merten Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Sources

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Muscle diseases Oral diseases Blood diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 182250

OMIM Phenotypic Series ⁵⁶ PS182250

MeSH ⁴³ D001018 D010024 D014071 more

MedGen ⁴¹ C0432254 C4225427

Sources

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.

Sources

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

Sources

Symptoms & Phenotypes for Singleton-Merten Syndrome 1

Human phenotypes related to Singleton-Merten Syndrome 1:

³¹ (show all 40)

#	Description	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

Sources

Drugs & Therapeutics for Singleton-Merten Syndrome 1

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

Sources

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

Sources

Anatomical Context for Singleton-Merten Syndrome 1

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

⁴⁰

Bone, Heart, Skin

Sources

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	Rutsch F...Hennekam RC	25620204	2015
2	Singleton-merten syndrome and impaired cardiac function. ⁶ ⁵⁶	Valverde I...Simpson J	21070929	2010
3	Singleton-Merten syndrome: an autosomal dominant disorder with variable expression. ⁵⁶	Feigenbaum A...Hennekam RC	23322711	2013
4	A syndrome of widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness (the Singleton-Merten syndrome). ⁵⁶	Gay BB...Kuhn JP	175395	1976
5	An unusual syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition. ⁵⁶	Singleton EB...Merten DF	4272099	1973

Sources

Genes for Singleton-Merten Syndrome 1

Genes related to Singleton-Merten Syndrome 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	IFIH1	Interferon Induced With Helicase C Domain 1	Protein Coding	1320.61	Molecular basis known ⁵⁶ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	25620204 21070929

Sources

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>C	SNV	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_?)del	deletion	Uncertain significance	541792		2:163144625-163144885	2:162288115-162288375
23	IFIH1	NM_022168.4(IFIH1):c.2044+2T>C	SNV	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>T	SNV	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>A	SNV	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

Sources

Expression for Singleton-Merten Syndrome 1

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

Sources

Pathways for Singleton-Merten Syndrome 1

Sources

GO Terms for Singleton-Merten Syndrome 1

Sources

Sources for Singleton-Merten Syndrome 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Singleton-Merten Syndrome 1 (SGMRT1)

Aliases & Classifications for Singleton-Merten Syndrome 1

MalaCards integrated aliases for Singleton-Merten Syndrome 1:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Singleton-Merten Syndrome 1

Related Diseases for Singleton-Merten Syndrome 1

Diseases in the Singleton-Merten Syndrome family:

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

Symptoms & Phenotypes for Singleton-Merten Syndrome 1

Human phenotypes related to Singleton-Merten Syndrome 1:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Singleton-Merten Syndrome 1

Genetic Tests for Singleton-Merten Syndrome 1

Genetic tests related to Singleton-Merten Syndrome 1:

Anatomical Context for Singleton-Merten Syndrome 1

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

Publications for Singleton-Merten Syndrome 1

Articles related to Singleton-Merten Syndrome 1:

Genes for Singleton-Merten Syndrome 1

Genes related to Singleton-Merten Syndrome 1 (1 elite genes):

Variations for Singleton-Merten Syndrome 1

ClinVar genetic disease variations for Singleton-Merten Syndrome 1:

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

Expression for Singleton-Merten Syndrome 1

Pathways for Singleton-Merten Syndrome 1

GO Terms for Singleton-Merten Syndrome 1

Sources for Singleton-Merten Syndrome 1