FPS
MCID: FNT005
MIFTS: 44

Fontaine Progeroid Syndrome (FPS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Fontaine Progeroid Syndrome

MalaCards integrated aliases for Fontaine Progeroid Syndrome:

Name: Fontaine Progeroid Syndrome 57 58 73 28 5 38
Gorlin-Chaudhry-Moss Syndrome 57 19 42 58 73
Craniofacial Dysostosis, Hypertrichosis, Hypoplasia of Labia Majora, Dental and Eye Anomalies, Patent Ductus Arteriosus, and Normal Intelligence 57 42 73
Gorlin Chaudhry Moss Syndrome 19 42 71
Gcm Syndrome 19 42 58
Gcms 57 42 73
Craniofacial Dysostosis, Patent Ductus Arteriosus, Hypertrichosis, Hypoplasia of Labia Majora, Dental and Eye Anomalies 19 42
Progeroid Syndrome, Congenital, Petty Type 57 73
Petty Laxova Wiedemann Syndrome 19 71
Fps 57 73
Dental and Eye Anomalies-Patent Ductus Arteriosus-Normal Intelligence Syndrome 58
Cranofacial Dysostosis-Hypertrichosis-Hypoplasia of Labia Majora Syndrome 58
Craniofacial Dysostosis-Genital, Dental, Cardiac Anomalies Syndrome 58
Progeroid Syndrome Congenital Petty Type 19
Petty-Laxova-Wiedemann Syndrome 58
Progeroid Syndrome, Petty Type 58
Progeroid Syndrome Petty Type 19
Petty Syndrome 58

Characteristics:


Inheritance:

Fontaine Progeroid Syndrome: Autosomal dominant 57
Gorlin-Chaudhry-Moss Syndrome: Autosomal recessive 58

Prevelance:

Gorlin-Chaudhry-Moss Syndrome: <1/1000000 (Worldwide) 58
Progeroid Syndrome, Petty Type: <1/1000000 (Worldwide) 58

Age Of Onset:

Gorlin-Chaudhry-Moss Syndrome: Neonatal 58
Progeroid Syndrome, Petty Type: Neonatal 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
variable features may be present
early lethality in some patients


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Fontaine Progeroid Syndrome

MedlinePlus Genetics: 42 Gorlin-Chaudhry-Moss syndrome is a condition that affects many parts of the body. The signs and symptoms of this disorder are apparent from birth or infancy.Gorlin-Chaudhry-Moss syndrome is characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face. Many people with this disorder have a premature fusion of skull bones along the coronal suture, the growth line that goes over the head from ear to ear. These changes can result in a head that is abnormally wide and pointed at the top (acrobrachycephaly). Affected individuals also have distinctive facial characteristics that can include a flat or sunken appearance of the middle of the face (midface hypoplasia), and small eyes (microphthalmia) with narrowed openings (narrowed palpebral fissures). Affected individuals may also have farsightedness (hyperopia) and dental problems such as small teeth (microdontia) or fewer teeth than normal (hypodontia).Many people with Gorlin-Chaudhry-Moss syndrome have a lack of fatty tissue under the skin (lipodystrophy). The lack of fat, together with thin, wrinkled, loose skin and veins visible beneath the skin, makes affected individuals look older than their biological age. This appearance of premature aging is sometimes described as progeroid.Affected individuals also have excessive hair growth (hypertrichosis) on their face and body. They have a low hairline on the forehead and their scalp hair is often coarse. People with Gorlin-Chaudhry-Moss syndrome also have shortened bones at the ends of the fingers and toes (short distal phalanges). Affected females have unusually small external genital folds (hypoplasia of the labia majora).Some individuals with Gorlin-Chaudhry-Moss syndrome have mild developmental delay but intelligence is usually normal in this disorder, as is life expectancy.

MalaCards based summary: Fontaine Progeroid Syndrome, also known as gorlin-chaudhry-moss syndrome, is related to slc25a24 fontaine progeroid syndrome and platelet disorder, familial, with associated myeloid malignancy. An important gene associated with Fontaine Progeroid Syndrome is SLC25A24 (Solute Carrier Family 25 Member 24). Affiliated tissues include eye, skin and bone, and related phenotypes are failure to thrive and nystagmus

Orphanet 58 Gorlin-chaudhry-moss syndrome: Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.

Progeroid syndrome, petty type: Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.

UniProtKB/Swiss-Prot: 73 An autosomal dominant progeroid disorder characterized by prenatal and postnatal growth retardation, decreased subcutaneous fat tissue, wrinkled skin, an aged appearance since birth, an abnormal scalp hair pattern, sparse hair, hypoplastic distal phalanges with hypoplastic nails, a widely open anterior fontanel, facial dysmorphisms, and craniosynostosis. Early death is observed in some patients.

OMIM®: 57 Fontaine progeroid syndrome (FPS) is characterized by prenatal and postnatal growth retardation, decreased subcutaneous fat tissue, sparse hair, triangular face, widely open anterior fontanel, convex and broad nasal ridge, micrognathia, craniosynostosis in some patients, and early death in many (summary by Writzl et al., 2017). (612289) (Updated 24-Oct-2022)

GARD: 19 Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.

Related Diseases for Fontaine Progeroid Syndrome

Diseases related to Fontaine Progeroid Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 135)
# Related Disease Score Top Affiliating Genes
1 slc25a24 fontaine progeroid syndrome 11.3
2 platelet disorder, familial, with associated myeloid malignancy 11.2
3 weill-marchesani syndrome 1 10.7
4 hypertrichosis 10.7
5 crouzon syndrome 10.6
6 dysostosis 10.6
7 sarcoma 10.5
8 progeroid syndrome 10.4
9 patent ductus arteriosus 1 10.3
10 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 10.3
11 tooth agenesis 10.3
12 aortic dissection 10.3
13 synostosis 10.3
14 aortic disease 10.3
15 necrotizing soft tissue infection 10.3
16 umbilical hernia 10.3
17 hemangioma 10.2
18 microphthalmia 10.1
19 craniosynostosis 10.1
20 cutis laxa 10.1
21 connective tissue disease 10.1
22 hutchinson-gilford progeria syndrome 10.1
23 rickets 10.0
24 lung cancer 10.0
25 gastroesophageal reflux 10.0
26 microvascular complications of diabetes 1 10.0
27 microvascular complications of diabetes 2 10.0
28 microvascular complications of diabetes 3 10.0
29 microvascular complications of diabetes 4 10.0
30 microvascular complications of diabetes 5 10.0
31 microvascular complications of diabetes 6 10.0
32 microvascular complications of diabetes 7 10.0
33 barrett esophagus 10.0
34 atrial heart septal defect 10.0
35 mesenchymal cell neoplasm 10.0
36 turner syndrome 10.0
37 systemic scleroderma 10.0
38 47 xxx syndrome 10.0
39 splenomegaly 10.0
40 argyria 10.0
41 wiedemann-rautenstrauch syndrome 10.0
42 laminopathy 10.0
43 hypogonadotropic hypogonadism 7 with or without anosmia 9.9
44 down syndrome 9.9
45 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 9.9
46 schopf-schulz-passarge syndrome 9.9
47 pituitary hormone deficiency, combined, 2 9.9
48 robin sequence with cleft mandible and limb anomalies 9.9
49 caspase 8 deficiency 9.9
50 pancreatic and cerebellar agenesis 9.9

Graphical network of the top 20 diseases related to Fontaine Progeroid Syndrome:



Diseases related to Fontaine Progeroid Syndrome

Symptoms & Phenotypes for Fontaine Progeroid Syndrome

Human phenotypes related to Fontaine Progeroid Syndrome:

58 30 (show top 50) (show all 125)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001508
2 nystagmus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000639
3 hypertelorism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000316
4 mandibular prognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000303
5 umbilical hernia 58 30 Very rare (1%) Frequent (79-30%)
Very frequent (99-80%)
HP:0001537
6 thick eyebrow 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000574
7 coarse hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002208
8 short stature 58 30 Very rare (1%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0004322
9 brachycephaly 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000248
10 abnormality of the nail 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001597
11 lipoatrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100578
12 everted lower lip vermilion 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000232
13 strabismus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000486
14 intrauterine growth retardation 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001511
15 abnormal dermatoglyphics 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007477
16 epicanthus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000286
17 prematurely aged appearance 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007495
18 conductive hearing impairment 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000405
19 low-set, posteriorly rotated ears 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000368
20 abnormality of vision 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000504
21 low anterior hairline 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000294
22 generalized hirsutism 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0002230
23 broad forehead 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000337
24 redundant skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001582
25 short distal phalanx of finger 58 30 Very rare (1%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0009882
26 long eyelashes in irregular rows 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007740
27 wide anterior fontanel 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000260
28 underdeveloped supraorbital ridges 58 30 Very rare (1%) Very frequent (99-80%)
HP:0009891
29 sparse hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008070
30 decreased skull ossification 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004331
31 oligodontia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000677
32 brittle hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002299
33 shagreen patch 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009721
34 coronal craniosynostosis 58 30 Very rare (1%) Very frequent (99-80%)
HP:0004440
35 congenital craniofacial dysostosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008497
36 abnormal metacarpal morphology 30 Hallmark (90%) HP:0005916
37 reduced subcutaneous adipose tissue 30 Very rare (1%) HP:0003758
38 abnormal foot morphology 30 Hallmark (90%) HP:0001760
39 tooth agenesis 30 Hallmark (90%) HP:0009804
40 patent ductus arteriosus 58 30 Very rare (1%) Frequent (79-30%)
HP:0001643
41 sclerocornea 58 30 Frequent (33%) Frequent (79-30%)
HP:0000647
42 hypoplasia of the maxilla 58 30 Frequent (33%) Frequent (79-30%)
HP:0000327
43 astigmatism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000483
44 aplasia/hypoplasia of the nasal bone 58 30 Frequent (33%) Frequent (79-30%)
HP:0010940
45 intellectual disability, mild 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001256
46 upper eyelid coloboma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000636
47 microcephaly 30 Very rare (1%) HP:0000252
48 cryptorchidism 30 Very rare (1%) HP:0000028
49 micrognathia 30 Very rare (1%) HP:0000347
50 low-set ears 30 Very rare (1%) HP:0000369

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Growth Other:
failure to thrive
intrauterine growth retardation

Neurologic Central Nervous System:
hydrocephalus
periventricular heterotopia
hypotonia
thin corpus callosum
hypoplastic cerebellum
more
Head And Neck Eyes:
hypertelorism
synophrys
downslanting palpebral fissures
hyperopia
short palpebral fissures
more
Growth Height:
short stature

Head And Neck Head:
brachycephaly
turricephaly
large anterior fontanel
microcephaly (in some patients)

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Ears:
low-set ears
posteriorly rotated ears
dysplastic ears
hypoplastic or absent ear lobes
conductive hearing loss (in some patients)

Cardiovascular Heart:
atrial septal defect
bicuspid aortic valve
left ventricular hypertrophy
patent ductus arteriosus
tricuspid insufficiency

Genitourinary External Genitalia Male:
micropenis
scrotal hypoplasia

Skeletal Skull:
craniosynostosis
premature fusion of coronal sutures
premature fusion of parietotemporal sutures (uncommon)
widely open metopic suture (uncommon)
widely open sagittal sutures (uncommon)
more
Genitourinary External Genitalia Female:
hypoplastic labia majora

Skeletal Hands:
syndactyly
absent distal phalanges
short distal phalanges

Skeletal:
delayed bone age
low bone density
deficient endochondral ossification

Skin Nails Hair Nails:
small nails
absent nails (in some patients)

Cardiovascular Vascular:
pulmonary artery hypertension
aortic ectasia

Skeletal Pelvis:
hypoplastic or absent pubic bones

Skeletal Spine:
scoliosis
platyspondyly
notching of multiple vertebral bodies, superior and inferior

Respiratory Lung:
respiratory insufficiency
pulmonary hypoplasia
recurrent aspiration pneumonia
reduced number of alveoli
pneumothorax due to bronchopleural fistula

Abdomen External Features:
umbilical hernia
abdominal muscle hypoplasia

Abdomen Gastrointestinal:
gastroesophageal reflux
anteriorly placed anus
feeding problems
partial malrotation

Head And Neck Teeth:
microdontia
oligodontia

Head And Neck Face:
retrognathia
micrognathia
long philtrum
low anterior hairline
broad forehead
more
Head And Neck Neck:
low posterior hairline
hypertrichosis

Head And Neck Mouth:
protruding tongue
thin upper lip
small mouth
protruding lower lip
high-arched palate (in some patients)

Skin Nails Hair Skin:
redundant skin
dermal translucency
deep palmar creases
reduced subcutaneous fat
wrinkled skin

Head And Neck Nose:
convex nasal ridge
small nose
depressed nasal root

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Skeletal Feet:
syndactyly
absent distal phalanges
short distal phalanges

Chest Breasts:
absent nipples
small nipples
widely space nipples

Muscle Soft Tissue:
muscle weakness (in some patients)

Skin Nails Hair Hair:
coarse scalp hair
sparse scalp hair (parietal area may be particularly affected)
abnormal scalp hair pattern
low anterior and posterior hairlines
hypertrichosis (including face, neck, trunk, and limbs)

Prenatal Manifestations Movement:
reduction of fetal movements (uncommon)

Clinical features from OMIM®:

612289 (Updated 24-Oct-2022)

Drugs & Therapeutics for Fontaine Progeroid Syndrome

Search Clinical Trials, NIH Clinical Center for Fontaine Progeroid Syndrome

Genetic Tests for Fontaine Progeroid Syndrome

Genetic tests related to Fontaine Progeroid Syndrome:

# Genetic test Affiliating Genes
1 Fontaine Progeroid Syndrome 28 SLC25A24

Anatomical Context for Fontaine Progeroid Syndrome

Organs/tissues related to Fontaine Progeroid Syndrome:

MalaCards : Eye, Skin, Bone, Tongue, Lung, Cerebellum, Liver
ODiseA: Respiratory System-Lung, Respiratory System

Publications for Fontaine Progeroid Syndrome

Articles related to Fontaine Progeroid Syndrome:

(show top 50) (show all 1519)
# Title Authors PMID Year
1
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. 62 57 5
29100093 2017
2
Necrotizing soft tissue infection of the scalp after fronto-facial advancement by internal distraction in a 7-year old girl with Gorlin-Chaudhry-Moss syndrome--a case report. 62 57 5
21216154 2011
3
De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise. 57 5
29100094 2017
4
Fontaine-Farriaux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies. 57 5
19731360 2009
5
Can Hutchinson-Gilford progeria syndrome be a neonatal condition? 57 5
10594888 1999
6
Lethal neonatal Hutchinson-Gilford progeria syndrome. 57 5
10215548 1999
7
Gorlin-Chaudhry-Moss syndrome revisited: expanding the phenotype. 62 57
23686885 2013
8
Two sisters resembling Gorlin-Chaudhry-Moss syndrome. 62 57
21910232 2011
9
Gorlin-Chaudhry-Moss or Saethre-Chotzen syndrome? 62 57
7554354 1995
10
Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: confirmation of the Gorlin-Chaudhry-Moss syndrome. 62 57
1442899 1992
11
Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies-a new syndrome? 62 57
13851313 1960
12
Diagnosis of progeria syndrome is the only one possible 57
10594889 1999
13
Previously unrecognized congenital progeroid disorder. 57
2309786 1990
14
An unidentified neonatal progeroid syndrome: follow-up report. 57
569581 1979
15
[A new complex polymalformative syndrome (author's transl)]. 57
21227 1977
16
Congenital mesodermal dysmorpho-dystrophy (brachymorphic type). 57
13821935 1960
17
Immunomodulatory efficacy of Cousinia thomsonii C.B. Clarke in ameliorating inflammatory cascade expressions. 62
36116611 2023
18
Evaluation of the simulated aerosol optical properties over India: COALESCE model inter-comparison of three GCMs with ground and satellite observations. 62
36055485 2022
19
Biodegradation of renewable polyurethane foams in marine environments occurs through depolymerization by marine microorganisms. 62
36154974 2022
20
Characterization of petroleum degrading bacteria and its optimization conditions on effective utilization of petroleum hydrocarbons. 62
36115172 2022
21
Evaluation of potential changes in landslide susceptibility and landslide occurrence frequency in China under climate change. 62
35981587 2022
22
Torrefaction/carbonization-enhanced gasification-steam reforming of biomass for promoting hydrogen-enriched syngas production and tar elimination over gasification biochars. 62
36113820 2022
23
Chinese patent medicine shouhui tongbian capsule attenuated loperamide-induced constipation through modulating the gut microbiota in rat. 62
35934189 2022
24
Future injury mortality burden attributable to compound hot extremes will significantly increase in China. 62
35798110 2022
25
Projections of heatwave-attributable mortality under climate change and future population scenarios in China. 62
36105236 2022
26
Nanoarchitecture of graphene nanosheets decorated with NiCr layered double hydroxide for sonophotocatalytic degradation of refractory antibiotics. 62
35793723 2022
27
Nitrogen dependence of rhamnolipid mediated degradation of petroleum crude oil by indigenous Pseudomonas sp. WD23 in seawater. 62
35675868 2022
28
Influence of bioaugmentation in crude oil contaminated soil by Pseudomonas species on the removal of total petroleum hydrocarbon. 62
36243087 2022
29
Hydrological impacts of future climate and land use/cover changes in the Lower Mekong Basin: a case study of the Srepok River Basin, Vietnam. 62
36255530 2022
30
Assessment of the impact of reforestation on soil, riparian sediment and river water quality based on polyaromatic hydrocarbon pollutants. 62
36202033 2022
31
Determination of Ethanol Content in Water Kefir using Headspace Gas Chromatography with Mass Spectrometry Detection: Matrix Extension and Methanol characterization. 62
36264117 2022
32
Application of a headspace GC-MS method to evaluate the product quality of alcohol-based hand wipe sanitizers. 62
35739060 2022
33
Unveiling Antimicrobial and Antioxidant Compositional Differences between Dukkah and Za'atar via SPME-GCMS and HPLC-DAD. 62
36235006 2022
34
A fully automated method to quantitate total carbon dioxide in equine plasma by headspace GCMS. 62
35940610 2022
35
Isolation and Phytochemical Screening of Endophytic Fungi Isolated from Medicinal Plant Mappia foetida and Evaluation of Its In Vitro Cytotoxicity in Cancer. 62
35536539 2022
36
Identification and Bioassays of Sex-Specific Compounds From a Nuisance Net-Spinning Caddisfly Smicridea fasciatella (Trichoptera: Hydropsychidae). 62
35980339 2022
37
Assessing impacts of global climate change on water and food security in the black soil region of Northeast China using an improved SWAT-CO2 model. 62
36265642 2022
38
Highly Photosensitive Lead Sulfide Thin Films Grown by H2 S Free MOCVD Using a Single Source Metal-Organic Precursor. 62
36048144 2022
39
Modeling the effect of climate change on the distribution of threatened medicinal orchid Satyrium nepalense D. Don in India. 62
35524848 2022
40
Measurement Uncertainty and Validation for Quantitation of Salbutamol in Human Urine by Gas Chromatography-Tandem Mass Spectrometry. 62
36214345 2022
41
Two New C21 Steroidal Glycosides from Selaginella Braunii Baker. 62
36098055 2022
42
An inulin-type fructan (AMP1-1) from Atractylodes macrocephala with anti-weightlessness bone loss activity. 62
35868743 2022
43
Testing the role of local plant chemical diversity on plant-herbivore interactions and plant species coexistence. 62
35611398 2022
44
Pyrolysis of vegetable oil soapstock in fluidized bed: Characteristics of thermal decomposition and analysis of pyrolysis products. 62
35569655 2022
45
Future global concurrent droughts and their effects on maize yield. 62
36126712 2022
46
GC-MS analysis of curculigo orchiodes and medicinal herbs with cytotoxic, hepatoprotective attributes of ethanolic extract from Indian origin. 62
35320638 2022
47
In vivo 2-Hydroxyglutarate Monitoring With Edited MR Spectroscopy for the Follow-up of IDH-Mutant Diffuse Gliomas: The IDASPE Prospective Study. 62
36180241 2022
48
Detection of IEMs by Mass Spectrometry Techniques in High-Risk Children: A Pilot Study. 62
35713767 2022
49
Differences in extremes and uncertainties in future runoff simulations using SWAT and LSTM for SSP scenarios. 62
35640757 2022
50
Projections of fire probability and ecosystem vulnerability under 21st century climate across a trans-Andean productivity gradient in Patagonia. 62
35654202 2022

Variations for Fontaine Progeroid Syndrome

ClinVar genetic disease variations for Fontaine Progeroid Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC25A24 NM_013386.5(SLC25A24):c.649C>T (p.Arg217Cys) SNV Pathogenic
369980 rs1553253990 GRCh37: 1:108700104-108700104
GRCh38: 1:108157482-108157482
2 SLC25A24 NM_013386.5(SLC25A24):c.650G>A (p.Arg217His) SNV Pathogenic
370032 rs1553253989 GRCh37: 1:108700103-108700103
GRCh38: 1:108157481-108157481
3 SLC25A24 NM_013386.5(SLC25A24):c.424G>A (p.Val142Met) SNV Uncertain Significance
1683655 GRCh37: 1:108703890-108703890
GRCh38: 1:108161268-108161268
4 SLC25A24 NM_013386.5(SLC25A24):c.812_822+1del DEL Uncertain Significance
1032578 rs1679855807 GRCh37: 1:108697604-108697615
GRCh38: 1:108154982-108154993
5 SLC25A24 NM_013386.5(SLC25A24):c.398+45T>C SNV Benign
1246080 GRCh37: 1:108724518-108724518
GRCh38: 1:108181896-108181896
6 SLC25A24 NM_013386.5(SLC25A24):c.276A>G (p.Lys92=) SNV Benign
1181064 GRCh37: 1:108728484-108728484
GRCh38: 1:108185862-108185862

UniProtKB/Swiss-Prot genetic disease variations for Fontaine Progeroid Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 SLC25A24 p.Arg217Cys VAR_080617 rs1553253990
2 SLC25A24 p.Arg217His VAR_080618 rs1553253989

Expression for Fontaine Progeroid Syndrome

Search GEO for disease gene expression data for Fontaine Progeroid Syndrome.

Pathways for Fontaine Progeroid Syndrome

GO Terms for Fontaine Progeroid Syndrome

Sources for Fontaine Progeroid Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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