FPS
MCID: FNT005
MIFTS: 42

Fontaine Progeroid Syndrome (FPS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Fontaine Progeroid Syndrome

MalaCards integrated aliases for Fontaine Progeroid Syndrome:

Name: Fontaine Progeroid Syndrome 57 58 72 36 29 6
Gorlin-Chaudhry-Moss Syndrome 57 20 43 58 72
Craniofacial Dysostosis, Hypertrichosis, Hypoplasia of Labia Majora, Dental and Eye Anomalies, Patent Ductus Arteriosus, and Normal Intelligence 57 43 72
Gorlin Chaudhry Moss Syndrome 20 43 70
Gcm Syndrome 20 43 58
Gcms 57 43 72
Craniofacial Dysostosis, Patent Ductus Arteriosus, Hypertrichosis, Hypoplasia of Labia Majora, Dental and Eye Anomalies 20 43
Progeroid Syndrome, Congenital, Petty Type 57 72
Fps 57 72
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
Gorlin-Chaudhry-Moss Syndrome; Gcms 57
Petty Laxova Wiedemann Syndrome 70
Petty-Laxova-Wiedemann Syndrome 58
Progeroid Syndrome, Petty Type 58
Aging, Premature 44
Petty Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
gorlin-chaudhry-moss syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable features may be present
early lethality in some patients


HPO:

31
fontaine progeroid syndrome:
Onset and clinical course death in infancy neonatal death congenital onset
Inheritance autosomal dominant inheritance


Classifications:

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


Summaries for Fontaine Progeroid Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2095 Definition 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. Epidemiology To date, 7 cases of GCM have been described in the world literature and all patients are female with no known parental consanguinity. Clinical description GCM is a congenital disorder in which patients present with a stocky body build, normal intelligence, coronal craniosynostosis, facial dysmorphism (brachy/turricephaly, low anterior and posterior hairline, coarse hair, synophrys, depressed supraorbital ridges, short and downslanted or upslanted palpebral fissures, ectropion of lower eyelid, underdeveloped ala nasi, prominent columella, midface hypoplasia, and underdeveloped small ears with increased posterior angulation), conductive hearing loss, ocular (coloboma of the eyelid (see this term), hyperopia, microphthalmia) and oro-dental (microdontia, irregularly shaped widely spaced teeth, oligodontia (see this term), narrow, and high arched narrow palate with medial cleft) anomalies and generalized hypertrichosis. Anomalies of the extremities (hypoplastic distal phalanges, small/aplastic nails, cutaneous syndactyly, absent flexion crease of the thumbs, single transverse palmar creases), umbilical hernia, and hypoplasia of labia majora are also observed. Other additional features that may be observed include congenital laryngomalacia and heart disease (patent arterial duct) (see these terms). Progeroid syndrome, Petty type and Saethre-Chotzen syndrome (see these terms) have overlapping features with GCM syndrome and should be considered in the differential diagnosis. Etiology The etiology is still unknown and, to date, no causative gene has been implicated in the physiopathology of GCM. Genetic counseling GCM is considered to be inherited in an autosomal recessive manner. However, the lack of consanguinity combined with the fact that all affected patients are female could suggest a de novo X-linked dominant disorder with male lethality.

MalaCards based summary : Fontaine Progeroid Syndrome, also known as gorlin-chaudhry-moss syndrome, is related to autosomal dominant deafness-onychodystrophy 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). The drugs Polyestradiol phosphate and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and tongue, and related phenotypes are failure to thrive and nystagmus

MedlinePlus Genetics : 43 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.

OMIM® : 57 Fontaine progeroid syndrome 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 05-Apr-2021)

KEGG : 36 Fontaine progeroid syndrome (FPS) is a rare genetic disorder characterized by early aging, bone dysplasia, characteristic face, and early demise. Mutations in SLC25A24, that encodes for calcium-binding mitochondrial carrier protein, cause FPS. Formerly, FPS was separated into two syndromes, Gorlin-Chaudhry-Moss syndrome and Fontaine-Farriaux syndrome. Because they share similar clinical manifestations and have common genetic basis, it has been proposed to be integrated into a single disorder.

UniProtKB/Swiss-Prot : 72 Fontaine progeroid syndrome: 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.

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 87)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant deafness-onychodystrophy syndrome 11.3
2 platelet disorder, familial, with associated myeloid malignancy 11.2
3 premature aging syndrome, penttinen type 11.2
4 werner syndrome 11.0
5 weill-marchesani syndrome 1 10.7
6 hypertrichosis 10.6
7 dysostosis 10.6
8 patent ductus arteriosus 1 10.3
9 tooth agenesis 10.3
10 aortic dissection 10.3
11 synostosis 10.3
12 craniosynostosis 10.3
13 aortic disease 10.3
14 progeroid syndrome petty type 10.3
15 necrotizing soft tissue infection 10.3
16 umbilical hernia 10.3
17 progeroid syndrome 10.3
18 hemangioma 10.2
19 microphthalmia 10.1
20 hutchinson-gilford progeria syndrome 10.1
21 gastroesophageal reflux 10.0
22 microvascular complications of diabetes 3 10.0
23 microvascular complications of diabetes 4 10.0
24 microvascular complications of diabetes 6 10.0
25 microvascular complications of diabetes 7 10.0
26 barrett esophagus 10.0
27 sarcoma 10.0
28 mesenchymal cell neoplasm 10.0
29 spindle cell sarcoma 10.0
30 splenomegaly 10.0
31 argyria 10.0
32 wiedemann-rautenstrauch syndrome 9.9
33 laminopathy 9.9
34 triiodothyronine receptor auxiliary protein 9.9
35 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 9.9
36 lung cancer 9.9
37 pituitary hormone deficiency, combined, 2 9.9
38 mevalonic aciduria 9.9
39 colitis 9.9
40 hypogonadotropic hypogonadism 9.9
41 hypogonadism 9.9
42 hepatitis b 9.9
43 hepatitis 9.9
44 mastocytosis 9.9
45 kallmann syndrome 9.9
46 craniopharyngioma 9.9
47 hyperglycemia 9.9
48 acne 9.9
49 hypopituitarism 9.9
50 congenital hypopituitarism 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 31 (show top 50) (show all 123)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 very rare (1%) Very frequent (99-80%) HP:0001508
2 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
5 umbilical hernia 58 31 very rare (1%) Frequent (79-30%),Very frequent (99-80%) HP:0001537
6 thick eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0000574
7 coarse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002208
8 short stature 58 31 very rare (1%) Very frequent (99-80%),Very frequent (99-80%) HP:0004322
9 brachycephaly 58 31 very rare (1%) Very frequent (99-80%) HP:0000248
10 abnormality of the nail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001597
11 lipoatrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100578
12 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
13 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
14 intrauterine growth retardation 58 31 very rare (1%) Very frequent (99-80%) HP:0001511
15 abnormal dermatoglyphics 58 31 hallmark (90%) Very frequent (99-80%) HP:0007477
16 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
17 prematurely aged appearance 58 31 hallmark (90%) Very frequent (99-80%) HP:0007495
18 conductive hearing impairment 58 31 very rare (1%) Very frequent (99-80%) HP:0000405
19 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
20 abnormality of vision 58 31 hallmark (90%) Very frequent (99-80%) HP:0000504
21 reduced number of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009804
22 low anterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0000294
23 generalized hirsutism 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002230
24 broad forehead 58 31 very rare (1%) Very frequent (99-80%) HP:0000337
25 redundant skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001582
26 short distal phalanx of finger 58 31 very rare (1%) Very frequent (99-80%),Very frequent (99-80%) HP:0009882
27 long eyelashes in irregular rows 58 31 hallmark (90%) Very frequent (99-80%) HP:0007740
28 abnormality of the metacarpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0001163
29 wide anterior fontanel 58 31 very rare (1%) Very frequent (99-80%) HP:0000260
30 underdeveloped supraorbital ridges 58 31 very rare (1%) Very frequent (99-80%) HP:0009891
31 sparse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0008070
32 decreased skull ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0004331
33 oligodontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000677
34 brittle hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002299
35 shagreen patch 58 31 hallmark (90%) Very frequent (99-80%) HP:0009721
36 coronal craniosynostosis 58 31 very rare (1%) Very frequent (99-80%) HP:0004440
37 congenital craniofacial dysostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008497
38 reduced subcutaneous adipose tissue 31 very rare (1%) HP:0003758
39 abnormal foot morphology 31 hallmark (90%) HP:0001760
40 hypoplasia of the maxilla 58 31 frequent (33%) Frequent (79-30%) HP:0000327
41 patent ductus arteriosus 58 31 very rare (1%) Frequent (79-30%) HP:0001643
42 sclerocornea 58 31 frequent (33%) Frequent (79-30%) HP:0000647
43 astigmatism 58 31 frequent (33%) Frequent (79-30%) HP:0000483
44 aplasia/hypoplasia of the nasal bone 58 31 frequent (33%) Frequent (79-30%) HP:0010940
45 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
46 upper eyelid coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000636
47 microcephaly 31 very rare (1%) HP:0000252
48 cryptorchidism 31 very rare (1%) HP:0000028
49 micrognathia 31 very rare (1%) HP:0000347
50 low-set ears 31 very rare (1%) HP:0000369

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

Drugs & Therapeutics for Fontaine Progeroid Syndrome

Drugs for Fontaine Progeroid Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Polyestradiol phosphate Approved Phase 4 28014-46-2
2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
3 Contraceptive Agents Phase 4
4 Hormone Antagonists Phase 4
5 Estradiol 3-benzoate Phase 4
6 Estradiol 17 beta-cypionate Phase 4
7 Hormones Phase 4
8 Estrogens Phase 4
9
Scopolamine Approved, Investigational 51-34-3, 6533-68-2 5184
10
Mecamylamine Approved, Investigational 60-40-2 4032
11
Hydrocortisone Approved, Vet_approved 50-23-7 5754
12
Hydrocortisone acetate Approved, Vet_approved 50-03-3
13
Inulin Approved, Investigational, Nutraceutical 9005-80-5 24763
14 Acidophilus
15 Guar
16 Reverse Transcriptase Inhibitors
17 Anti-Retroviral Agents
18 HIV Integrase Inhibitors
19 Integrase Inhibitors
20
protease inhibitors
21 HIV Protease Inhibitors
22 Gastrointestinal Agents
23 Parasympatholytics
24 Antiemetics
25 Neurotransmitter Agents
26 Anesthetics
27 Mydriatics
28 Muscarinic Antagonists
29 Cholinergic Agents
30 Bromides
31 Butylscopolammonium Bromide
32 Cholinergic Antagonists
33 Hydrocortisone hemisuccinate
34 Hydrocortisone 17-butyrate 21-propionate

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 The Impact of HIV on Accelerated Aging in the Female Genital Tract: a Pilot Trial of Topical Estradiol to Improve the Vaginal Microbiome and Symptoms of Vaginal Atrophy in Menopausal Women With HIV Recruiting NCT04079218 Phase 4 Estradiol Vaginal Insert
2 Non-randomized Clinical Trial for Evaluation of the Dissector Assisted Malar Elevation in Videoendoscopic Rhytidoplasty. Unknown status NCT00925158
3 Assessment of White Matter Hyperintensities Burden in Adult Patients With Cyanotic Congenital Heart Disease: a Pilot Study Unknown status NCT03487302
4 Pathology of Helicases and Premature Aging: Study by Derivation of hiPS Completed NCT03898817
5 Clinical Trial, Randomized and Controlled With Placebo to Evaluate the Addition to an Antiretroviral Treatment of a Probiotic, Only or in Conjunction of a Pre-biotical, in Adults Infected by Hiv-1 With a cd4 Record Less Than 500 Cells / mm3 Completed NCT03542786
6 Premature Aging and Type 2 Diabetes Mellitus: an Increased Risk of Cardiomyopathy? Completed NCT01536808
7 Cholinergic Correlates of Impaired Cognitive Ability in HIV-Associated Neurocognitive Disorders Completed NCT03244488 Scopolamine Injectable Product;Mecamylamine Pill
8 The TANTALUS® II for the Treatment of Type 2 Diabetes: A Single-Blind Cross-Over Study Completed NCT01303302
9 Novel Screening Tools For the Evaluation and Management of Malnourished Children in the Developing World Completed NCT02449408
10 Volatile Marker Testing for Digestive Cancer and Precancerous Lesion Detection, Evaluation of Confounding Factors Completed NCT02332213
11 A Prospective Clinical Trial of the TANTALUS System In Treatment of Obese to Morbidly Obese Patients Completed NCT00779363
12 A Randomized, Double-blind, Comparator-controlled, Cross-over Study to Investigate the Safety and Efficacy of RiaGev™ in Healthy Adults Active, not recruiting NCT04483011
13 Evaluation of Malglycemia Via Continuous Glucose Monitoring in the Pediatric Hematopoietic Stem Cell Transplant Population Active, not recruiting NCT03037671
14 Social Norms and Antihypertensive Medication Adherence Withdrawn NCT03292393

Search NIH Clinical Center for Fontaine Progeroid Syndrome

Cochrane evidence based reviews: aging, premature

Genetic Tests for Fontaine Progeroid Syndrome

Genetic tests related to Fontaine Progeroid Syndrome:

# Genetic test Affiliating Genes
1 Fontaine Progeroid Syndrome 29 SLC25A24

Anatomical Context for Fontaine Progeroid Syndrome

MalaCards organs/tissues related to Fontaine Progeroid Syndrome:

40
Eye, Bone, Tongue, Cerebellum

Publications for Fontaine Progeroid Syndrome

Articles related to Fontaine Progeroid Syndrome:

(show all 23)
# Title Authors PMID Year
1
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. 61 6 57
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. 61 57 6
21216154 2011
3
De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise. 6 57
29100094 2017
4
Fontaine-Farriaux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies. 6 57
19731360 2009
5
Can Hutchinson-Gilford progeria syndrome be a neonatal condition? 6 57
10594888 1999
6
Lethal neonatal Hutchinson-Gilford progeria syndrome. 6 57
10215548 1999
7
Gorlin-Chaudhry-Moss syndrome revisited: expanding the phenotype. 61 57
23686885 2013
8
Two sisters resembling Gorlin-Chaudhry-Moss syndrome. 61 57
21910232 2011
9
Gorlin-Chaudhry-Moss or Saethre-Chotzen syndrome? 61 57
7554354 1995
10
Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: confirmation of the Gorlin-Chaudhry-Moss syndrome. 61 57
1442899 1992
11
Diagnosis of progeria syndrome is the only one possible 57
10594889 1999
12
Previously unrecognized congenital progeroid disorder. 57
2309786 1990
13
An unidentified neonatal progeroid syndrome: follow-up report. 57
569581 1979
14
[A new complex polymalformative syndrome (author's transl)]. 57
21227 1977
15
Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies-a new syndrome? 57
13851313 1960
16
Congenital mesodermal dysmorpho-dystrophy (brachymorphic type). 57
13821935 1960
17
Pathophysiology of premature aging characteristics in Mendelian progeroid disorders. 61
32791128 2020
18
Is Gorlin-Chaudhry-Moss syndrome associated with aortopathy? 61
32355952 2020
19
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review. 61
32340404 2020
20
A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up. 61
31775791 2019
21
A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24. 61
30329211 2018
22
[Gorlin-Chaudhry-Moss syndrome]. 61
11462675 2001
23
An etiologic and nosologic overview of craniosynostosis syndromes. 61
179637 1975

Variations for Fontaine Progeroid Syndrome

ClinVar genetic disease variations for Fontaine Progeroid Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC25A24 NM_013386.5(SLC25A24):c.650G>A (p.Arg217His) SNV Pathogenic 370032 rs1553253989 GRCh37: 1:108700103-108700103
GRCh38: 1:108157481-108157481
2 SLC25A24 NM_013386.5(SLC25A24):c.649C>T (p.Arg217Cys) SNV Pathogenic 369980 rs1553253990 GRCh37: 1:108700104-108700104
GRCh38: 1:108157482-108157482
3 SLC25A24 NM_013386.5(SLC25A24):c.812_822+1del Deletion Uncertain significance 1032578 GRCh37: 1:108697604-108697615
GRCh38: 1:108154982-108154993

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

72
# Symbol AA change Variation ID SNP ID
1 SLC25A24 p.Arg217Cys VAR_080617 rs155325399
2 SLC25A24 p.Arg217His VAR_080618 rs155325398

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

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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