SFMS
MCID: SMT007
MIFTS: 32

Smith-Fineman-Myers Syndrome (SFMS)

Categories: Rare diseases

Aliases & Classifications for Smith-Fineman-Myers Syndrome

Summaries for Smith-Fineman-Myers Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93974 Definition An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). Epidemiology Prevalence is unknown. Since its initial description in 1980, SFMS has been described in males from 11 families and in one isolated case. Clinical description SFMS is characterised by facial dysmorphism (slanted palpebral fissures, narrow face, micrognathia, patulous lower lip, flat or small philtrum, and alternating exotropia and ptosis ), short stature, early hypotonia and later hypertonia, prominent upper central incisors, foot deformities ( pes planus, metatarsus varus, equinovarus ), psychomotor retardation, and behavioural problems. Etiology In most cases the syndrome is caused by mutations in the ATRX gene (Xq13.3), however, the causative gene in a large Chinese family with SFMS has been mapped to a 19.8 Mb interval on Xq25. Genetic counseling Transmission is X-linked recessive.

MalaCards based summary : Smith-Fineman-Myers Syndrome, also known as sfms, is related to alpha thalassemia-x-linked intellectual disability syndrome and mental retardation-hypotonic facies syndrome, x-linked, 1. An important gene associated with Smith-Fineman-Myers Syndrome is ATRX (ATRX Chromatin Remodeler), and among its related pathways/superpathways is Chromatin Regulation / Acetylation. Affiliated tissues include breast, whole blood and t cells, and related phenotypes are intellectual disability and hyperreflexia

Wikipedia : 73 Smith-Fineman-Myers syndrome (SFMS1) is a congenital disorder that causes birth defects. This syndrome... more...

Related Diseases for Smith-Fineman-Myers Syndrome

Graphical network of the top 20 diseases related to Smith-Fineman-Myers Syndrome:



Diseases related to Smith-Fineman-Myers Syndrome

Symptoms & Phenotypes for Smith-Fineman-Myers Syndrome

Human phenotypes related to Smith-Fineman-Myers Syndrome:

31 (show all 41)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 hallmark (90%) HP:0001249
2 hyperreflexia 31 frequent (33%) HP:0001347
3 dysphasia 31 frequent (33%) HP:0002357
4 hypertelorism 31 frequent (33%) HP:0000316
5 delayed speech and language development 31 frequent (33%) HP:0000750
6 pes planus 31 frequent (33%) HP:0001763
7 short stature 31 frequent (33%) HP:0004322
8 brachycephaly 31 frequent (33%) HP:0000248
9 cleft palate 31 frequent (33%) HP:0000175
10 metatarsus adductus 31 frequent (33%) HP:0001840
11 cryptorchidism 31 frequent (33%) HP:0000028
12 micrognathia 31 frequent (33%) HP:0000347
13 wide mouth 31 frequent (33%) HP:0000154
14 cerebral cortical atrophy 31 frequent (33%) HP:0002120
15 narrow face 31 frequent (33%) HP:0000275
16 dolichocephaly 31 frequent (33%) HP:0000268
17 downslanted palpebral fissures 31 frequent (33%) HP:0000494
18 severe global developmental delay 31 frequent (33%) HP:0011344
19 sloping forehead 31 frequent (33%) HP:0000340
20 restlessness 31 frequent (33%) HP:0000711
21 hyperactivity 31 frequent (33%) HP:0000752
22 persistence of primary teeth 31 frequent (33%) HP:0006335
23 difficulty walking 31 frequent (33%) HP:0002355
24 exotropia 31 frequent (33%) HP:0000577
25 infantile muscular hypotonia 31 frequent (33%) HP:0008947
26 bridged palmar crease 31 frequent (33%) HP:0011310
27 bilateral ptosis 31 frequent (33%) HP:0001488
28 clubbing of fingers 31 frequent (33%) HP:0100759
29 widely-spaced maxillary central incisors 31 frequent (33%) HP:0001566
30 impairment of activities of daily living 31 frequent (33%) HP:0031058
31 seizure 31 frequent (33%) HP:0001250
32 overjet 31 frequent (33%) HP:0011095
33 absent mastoid 31 frequent (33%) HP:0012761
34 delayed skeletal maturation 31 occasional (7.5%) HP:0002750
35 inguinal hernia 31 occasional (7.5%) HP:0000023
36 asplenia 31 occasional (7.5%) HP:0001746
37 posteriorly rotated ears 31 occasional (7.5%) HP:0000358
38 spastic diplegia 31 occasional (7.5%) HP:0001264
39 thoracic scoliosis 31 occasional (7.5%) HP:0002943
40 excessive femoral anteversion 31 occasional (7.5%) HP:0012427
41 lumbar scoliosis 31 occasional (7.5%) HP:0004626

GenomeRNAi Phenotypes related to Smith-Fineman-Myers Syndrome according to GeneCards Suite gene sharing:

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-121 9.77 SMARCA1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.77 ATRX
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.77 SMARCA1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-176 9.77 SMARCA1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.77 SMARCA1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-19 9.77 ATRX SMARCA1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.77 ATRX
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.77 ATRX
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.77 SMARCA1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.77 ATRX
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-38 9.77 ATRX
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.77 ATRX
13 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.58 SMARCA1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-15 9.58 SMARCA1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-150 9.58 SMARCA1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.58 ATRX
17 Increased shRNA abundance (Z-score > 2) GR00366-A-17 9.58 SMARCA1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-193 9.58 SMARCA1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.58 ATRX
20 Increased shRNA abundance (Z-score > 2) GR00366-A-71 9.58 ATRX
21 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.58 SMARCA1

MGI Mouse Phenotypes related to Smith-Fineman-Myers Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.02 ATRX CUL4B GPC3 GRIA3 SMARCA1

Drugs & Therapeutics for Smith-Fineman-Myers Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Improving Practice in Community-based Settings: A Randomized Trial of Supervision Strategies Unknown status NCT01800266
2 Childhood Obesity Treatment: A Maintenance Approach Completed NCT00759746
3 A Trial for a Procedure for Duodenal-Ileal Diversion With a Sleeve Gastrectomy for Patients With Obesity and Type 2 Diabetes Mellitus Recruiting NCT04627103

Search NIH Clinical Center for Smith-Fineman-Myers Syndrome

Genetic Tests for Smith-Fineman-Myers Syndrome

Anatomical Context for Smith-Fineman-Myers Syndrome

MalaCards organs/tissues related to Smith-Fineman-Myers Syndrome:

40
Breast, Whole Blood, T Cells

Publications for Smith-Fineman-Myers Syndrome

Articles related to Smith-Fineman-Myers Syndrome:

(show top 50) (show all 160)
# Title Authors PMID Year
1
Exploring quantitative cellular bioimaging and assessment of CdSe/ZnS quantum dots cellular uptake in single cells, using ns-LA-ICP-SFMS. 61
33714466 2021
2
A case-control study of oral diseases and quality of life in individuals with rheumatoid arthritis and systemic lupus erythematosus. 61
32803443 2021
3
Oil spill in northeastern Brazil: Application of fluorescence spectroscopy and PARAFAC in the analysis of oil-related compounds. 61
33338719 2021
4
Assessing team communication with patients' families: Findings from utilizing the Communication Assessment Tool-Team (CAT-T) in an interprofessional error disclosure simulation. 61
33676786 2021
5
Analytical validation using a gas mixing system for the determination of gaseous formaldehyde. 61
33094294 2020
6
Effect of Integrin Binding Peptide on Vascularization of Scaffold-Free Microtissue Spheroids. 61
32710228 2020
7
Rapid process development of serum-free pseudorabies virus production with the Quality by Design approach. 61
32086694 2020
8
Circularity in fisheries data weakens real world prediction. 61
32332835 2020
9
Substandard and Falsified Medicines in Myanmar. 61
32204459 2020
10
Length effect of stimuli-responsive block copolymer prodrug filomicelles on drug delivery efficiency. 61
31837355 2020
11
Molecular architectonics of DNA for functional nanoarchitectures. 61
31976202 2020
12
A novel ATRX mutation causes Smith‑Fineman‑Myers syndrome in a Chinese family. 61
31746429 2020
13
Relevance of cerebrospinal fluid findings in patients with multiple sclerosis and seizures. 61
31622901 2019
14
Madin-Darby canine kidney cell sialic acid receptor modulation induced by culture medium conditions: Implications for the isolation of influenza A virus. 61
31392833 2019
15
Modulation of seminal fluid molecules by males and females. 61
31472462 2019
16
Ultratrace Metal Speciation Analysis by Coupling of Sector-Field ICP-MS to High-Resolution Size Exclusion and Reversed-Phase Liquid Chromatography. 61
31373479 2019
17
Extreme-Scale Stochastic Particle Tracing for Uncertain Unsteady Flow Visualization and Analysis. 61
30047883 2019
18
Mechanisms of sublethal copper toxicity damage to the photosynthetic apparatus of Rhodospirillum rubrum. 61
31226316 2019
19
FI-ICP-TOFMS for quantification of biologically essential trace elements in cerebrospinal fluid - high-throughput at low sample volume. 61
31257367 2019
20
A Team Disclosure of Error Educational Activity: Objective Outcomes. 61
30938844 2019
21
Suit-type Wearable Robot Powered by Shape-memory-alloy-based Fabric Muscle. 61
31235870 2019
22
Validation of a questionnaire for consumers' perception of service quality in community pharmacy. 61
30170902 2019
23
Toxic metals in cord blood and later development of Type 1 diabetes. 61
31396560 2019
24
Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies. 61
30891959 2019
25
Regenerated silk fibroin membranes as separators for transparent microbial fuel cells. 61
30597451 2019
26
Flourishing Smart Flexible Membranes Beyond Paper. 61
30883096 2019
27
Engineering movement into automotive seating: Does the driver feel more comfortable and refreshed? 61
30487102 2019
28
Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes. 61
31781420 2019
29
Grade II Sylvian fissure meningiomas without dural attachment: case report and review of the literature. 61
30277091 2018
30
Determination of ultra-trace sulfur in high-purity metals by isotope dilution inductively coupled plasma sector field mass spectrometry combined with chemical separation procedure. 61
30086920 2018
31
Faculty facilitators' and standardized family members (SFMs) perceptions of student teamwork during an interprofessional education simulation workshop. 61
30136912 2018
32
Cutaneous Skeletal Hypophosphatemia Syndrome in Association with a Mosaic HRAS Mutation. 61
30373874 2018
33
Application of double-focusing sector field ICP-MS for determination of ultratrace constituents in samples characterized by complex composition of the matrix. 61
29216463 2018
34
Determination of ultra-trace level of 232Th in seawater by ICP-SFMS after matrix separation and preconcentration. 61
29289303 2018
35
Determination of Rare Earth Elements in multi-year high-resolution Arctic aerosol record by double focusing Inductively Coupled Plasma Mass Spectrometry with desolvation nebulizer inlet system. 61
28968931 2018
36
Trace Element Analysis of Borrelia burgdorferi by Inductively Coupled Plasma-Sector Field Mass Spectrometry. 61
29032538 2018
37
Multi-task transfer learning deep convolutional neural network: application to computer-aided diagnosis of breast cancer on mammograms. 61
29035873 2017
38
Fundamental constraints in synchronous muscle limit superfast motor control in vertebrates. 61
29165242 2017
39
Recommending Small, Frequent Meals in the Clinical Care of Adults: A Review of the Evidence and Important Considerations. 61
27589258 2017
40
Single SLM full-color holographic 3-D display based on sampling and selective frequency-filtering methods. 61
28788821 2017
41
Study of the Accumulation of Toxic and Essential Ultra-Trace Elements in Fruits of Sorbus domestica L. 61
28338629 2017
42
Determination of Ultra-trace Metal Impurities in High-purity Cadmium Using Inductively Coupled Plasma Mass Spectrometry after Matrix Separation with Anion Exchange Resin. 61
28302978 2017
43
Studies on Isotope Ratio Measurement of Cl by Inductively Coupled Plasma Triple-quad Mass Spectrometry. 61
28302981 2017
44
Effect of long term driving on driver discomfort and its relationship with seat fidgets and movements (SFMs). 61
27633204 2017
45
The performance of single and multi-collector ICP-MS instruments for fast and reliable 34S/32S isotope ratio measurements. 61
27812369 2016
46
Reference measurements for total mercury and methyl mercury content in marine biota samples using direct or species-specific isotope dilution inductively coupled plasma mass spectrometry. 61
27591651 2016
47
Bioengineering and serum free expansion of blood-derived γδ T cells. 61
27260209 2016
48
Indirect Evidence Link PCB Dehalogenation with Geobacteraceae in Anaerobic Sediment-Free Microcosms. 61
27379063 2016
49
A novel brain partition highlights the modular skeleton shared by structure and function. 61
26037235 2015
50
Error disclosure and family members' reactions: does the type of error really matter? 61
25630608 2015

Variations for Smith-Fineman-Myers Syndrome

Expression for Smith-Fineman-Myers Syndrome

Search GEO for disease gene expression data for Smith-Fineman-Myers Syndrome.

Pathways for Smith-Fineman-Myers Syndrome

Pathways related to Smith-Fineman-Myers Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.03 SMARCA1 ATRX

GO Terms for Smith-Fineman-Myers Syndrome

Biological processes related to Smith-Fineman-Myers Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin remodeling GO:0006338 8.96 SMARCA1 ATRX
2 positive regulation of protein catabolic process GO:0045732 8.62 GPC3 CUL4B

Molecular functions related to Smith-Fineman-Myers Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 helicase activity GO:0004386 8.62 SMARCA1 ATRX

Sources for Smith-Fineman-Myers Syndrome

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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