MCID: FRY002
MIFTS: 34

Fryns Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Fryns Syndrome

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Sources:
21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Fryns Syndrome:

Name: Fryns Syndrome 21 45 22 23 51 24 65
Diaphragmatic Hernia, Abnormal Face, and Distal Limb Anomalies 45 23
Diaphragmatic Hernia-Abnormal Face-Distal Limb Anomalies Syndrome 51
 
Moerman Van Den Berghe Fryns Syndrome 45
Frns 45

Characteristics:

Orphanet epidemiological data:

51
fryns syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (France),1-9/100000 (Europe); Age of onset: Antenatal,Infancy,Neonatal; Age of death: early childhood,embryofetal,infantile,stillbirth

Classifications:



External Ids:

Orphanet51 2059
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C538070
UMLS via Orphanet66 C0220730
UMLS65 C0220730

Summaries for Fryns Syndrome

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NIH Rare Diseases:45 Fryns syndrome is a condition that affects the development of many parts of the body. signs and symptoms vary widely among affected individuals. many affected individuals have a defect in the diaphragm muscle such as a congenital diaphragmatic hernia (a hole in the diaphragm present at birth). this may allow the stomach and intestines to move into the chest, which can result in pulmonary hypoplasia (underdevelopment of the lungs). other signs and symptoms may include abnormalities of the fingers and toes; distinctive facial features; severe developmental delay and intellectual disability; and abnormalities of the brain, cardiovascular system, gastrointestinal system, kidneys, and genitalia. most affected individuals die before birth or in early infancy. the cause of the condition is not known, but it is thought to be genetic and appears to be inherited in an autosomal recessive manner. last updated: 11/29/2011

MalaCards based summary: Fryns Syndrome, also known as diaphragmatic hernia, abnormal face, and distal limb anomalies, is related to lujan-fryns syndrome and cartwright nelson fryns syndrome, and has symptoms including broad forehead, micrognathia/retrognathia/micrognathism/retrognathism and broad nose/nasal bridge. An important gene associated with Fryns Syndrome is MED12 (Mediator Complex Subunit 12). Affiliated tissues include lung, kidney and brain.

Genetics Home Reference:23 Fryns syndrome is a condition that affects the development of many parts of the body. The features of this disorder vary widely among affected individuals and overlap with the signs and symptoms of several other disorders. These factors can make Fryns syndrome difficult to diagnose.

Wikipedia:68 Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in... more...

GeneReviews summary for NBK1459

Related Diseases for Fryns Syndrome

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

(show top 50)    (show all 81)
idRelated DiseaseScoreTop Affiliating Genes
1lujan-fryns syndrome12.5
2cartwright nelson fryns syndrome12.3
3frints de smet fabry fryns syndrome12.3
4petit-fryns syndrome12.3
5die smulders vles fryns syndrome12.2
6male pseudohermaphroditism intellectual disability syndrome, verloes type11.5
7arachnodactyly - intellectual disability - dysmorphism11.3
8limb deficiencies distal with micrognathia11.3
9lujan syndrome11.3
10lethal chondrodysplasia moerman type11.2
11alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome11.2
12symbrachydactyly of hands and feet11.2
13opitz-kaveggia syndrome10.3
14myocardial infarction10.1
15medulloblastoma10.1
16lung cancer10.1
17psoriatic arthritis10.1
18cystic fibrosis10.1
19myxoid liposarcoma10.1
20panic disorder10.1
21c4a deficiency10.1
22arthritis10.1
23bipolar disorder10.1
24crohn's disease10.1
25hepatitis10.1
26hydrocephalus10.1
27leukemia10.1
28liver disease10.1
29polycystic ovary syndrome10.1
30lymphoma10.1
31cerebellar medulloblastoma10.1
32ectopic pregnancy10.1
33stomach cancer10.1
34hemiplegia10.1
35rabies10.1
36arachnoiditis10.1
37sick sinus syndrome10.1
38farmer's lung10.1
39normal pressure hydrocephalus10.1
40histoplasmosis10.1
41acanthoma10.1
42melanoma10.1
43hepatitis d10.1
44coccidiosis10.1
45gastroenteritis10.1
46protein s deficiency10.1
47orchitis10.1
48rhizomelic chondrodysplasia punctata10.1
49chondrodysplasia punctata10.1
50long qt syndrome10.1

Graphical network of the top 20 diseases related to Fryns Syndrome:



Diseases related to fryns syndrome

Symptoms for Fryns Syndrome

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Symptoms:

 51 (show all 51)
  • broad forehead
  • micrognathia/retrognathia/micrognathism/retrognathism
  • broad nose/nasal bridge
  • tented upper lip
  • long philtrum
  • high vaulted/narrow palate
  • low set ears/posteriorly rotated ears
  • short neck
  • hypoplastic/absent nipples
  • absent/small fingernails/anonychia of hands
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • diaphragmatic hernia/defect/agenesis
  • multicystic kidney/renal dysplasia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • stillbirth/neonatal death
  • coarse face
  • hypertelorism
  • corneal clouding/opacity/vascularisation
  • anteverted nares/nostrils
  • macrostomia/big mouth
  • median cleft lip
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • excess nuchal skin without pterygium colli
  • abnormally placed nipples
  • terminal/third phalangeal bone of fingers hypoplasia
  • clinodactyly of fifth finger
  • tetralogy of fallot/trilogy of fallot
  • cardiac septal defect
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • dilated cerebral ventricles without hydrocephaly
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • corpus callosum/septum pellucidum total/partial agenesis
  • seizures/epilepsy/absences/spasms/status epilepticus
  • polyhydramnios
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • narrow rib cage/thorax
  • omphalocele/exomphalos
  • duodenal atresia/stenosis/megaduodenum
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • intestinal/gut/bowel malrotation
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • anus ectopia/anteposition/malposition
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • vesicorenal/vesicoureteral reflux
  • uterine/uterus/fallopian tubes anomalies
  • hypospadias/epispadias/bent penis
  • dandy-walker anomaly

Drugs & Therapeutics for Fryns Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic Analysis of Fraser Syndrome and Fryns SyndromeCompletedNCT00032877

Search NIH Clinical Center for Fryns Syndrome

Genetic Tests for Fryns Syndrome

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Genetic tests related to Fryns Syndrome:

id Genetic test Affiliating Genes
1 Fryns Syndrome22

Anatomical Context for Fryns Syndrome

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MalaCards organs/tissues related to Fryns Syndrome:

33
Lung, Kidney, Brain, Testes, Bone, Uterus, Skin

Animal Models for Fryns Syndrome or affiliated genes

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Publications for Fryns Syndrome

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Articles related to Fryns Syndrome:

(show top 50)    (show all 86)
idTitleAuthorsYear
1
Functional Overexpression of Vomeronasal Receptors Using a Herpes Simplex Virus Type 1 (HSV-1)-Derived Amplicon. (27195771)
2016
2
Secreted Frizzled-Related Protein 3 (sFRP3) in acute coronary syndromes. (25920031)
2015
3
Analysis of the complex formation, interaction and electron transfer pathway between the "open" conformation of NADPH-cytochrome P450 reductase and aromatase. (26087061)
2015
4
Organization of the human mitochondrial hydrogen sulfide oxidation pathway. (25225291)
2014
5
Systematic transcriptome analysis of the zebrafish model of diamond-blackfan anemia induced by RPS24 deficiency. (25189322)
2014
6
An overview of clinical tools used to assess neonatal abstinence syndrome. (25062523)
2014
7
Peutz-Jeghers syndrome--a rare case and a literature review. (25199243)
2014
8
Smudge cells following treatment with pentostatin in a patient with B-cell prolymphocytic leukemia. (24049774)
2013
9
Intravenous infusions in chronic pain management. (23703410)
2013
10
Promoter characterization and role of cAMP/PKA/CREB in the basal transcription of the mouse ORMDL3 gene. (23577138)
2013
11
The histone methyltransferase Ezh2 is a crucial epigenetic regulator of allogeneic T-cell responses mediating graft-versus-host disease. (24141370)
2013
12
Cyclosporine/ketoconazole reduces treatment costs for nephrotic syndrome. (24339519)
2013
13
Hemoptysis and respiratory failure following sildenafil use for pulmonary hypertension. (23544289)
2013
14
The association between online gaming, social phobia, and depression: an internet survey. (22839747)
2012
15
Management of spasticity in progressive multiple sclerosis: efficacy of repeated intrathecal triamcinolone acetonide administration. (22612755)
2012
16
Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome. (22639462)
2012
17
A case of small cell carcinoma of the ovary hypercalcemic variant in a teenager. (24371647)
2012
18
AMPK is a direct adenylate charge-regulated protein kinase. (21680840)
2011
19
Concurrent administration of intravenous systemic and intravitreal methotrexate for intraocular lymphoma with central nervous system involvement. (20464643)
2010
20
Management of pleural recurrence after curative resection of thymoma. (19379989)
2009
21
Common genetic variation in the ABCB1 gene is associated with the cholesterol-lowering effect of simvastatin in males. (19891551)
2009
22
Reconstruction of a human hemicornea through natural scaffolds compatible with the growth of corneal epithelial stem cells and stromal keratocytes. (19862337)
2009
23
Upregulation of beta-amyloid precursor protein expression in glioblastoma multiforme. (18521005)
2008
24
Spontaneous and prostatic steroid binding protein peptide-induced autoimmune prostatitis in the nonobese diabetic mouse. (17641022)
2007
25
Biochemical and structural characterization of mammalian-like purine nucleoside phosphorylase from the Archaeon Pyrococcus furiosus. (17419725)
2007
26
Dapoxetine, a novel selective serotonin transport inhibitor for the treatment of premature ejaculation. (18360636)
2007
27
Status of estrogen and progesterone receptors in various phases of the menstrual cycle in breast cancer. (16859061)
2006
28
Insight into the structural requirements of urokinase-type plasminogen activator inhibitors based on 3D QSAR CoMFA/CoMSIA models. (16420035)
2006
29
Hyperhomocysteinemia and mortality after coronary artery bypass grafting. (17183715)
2006
30
Inhibition of tumor angiogenesis by a natural fragment of a tRNA synthetase. (16297628)
2006
31
Short chain fatty acids regulate tyrosine hydroxylase gene expression through a cAMP-dependent signaling pathway. (16219387)
2005
32
Effects of imatinib on monocyte-derived dendritic cells are mediated by inhibition of nuclear factor-kappaB and Akt signaling pathways. (15756019)
2005
33
Liver damage in severely obese patients: a clinical-biochemical-morphologic study on 1,000 liver biopsies. (15329185)
2004
34
Association between human mu-opioid receptor gene polymorphism, pain tolerance, and opioid addiction. (12898579)
2003
35
Aspiration biopsy in a case of apocrine adenocarcinoma with foam cells (myoblastomatoid or histiocytoid adenocarcinoma). (11992376)
2002
36
Modulation of HLA-G expression in human thymic and amniotic epithelial cells. (11137212)
2000
37
T-cell apoptosis and differential human leucocyte antigen class II expression in human thymus. (10692044)
2000
38
Glycosylation is essential for functional expression of a human brain ecto-apyrase. (9931016)
1999
39
Molecular genetic evidence for subtypes of oligoastrocytomas. (9329453)
1997
40
Examination of the phosphoenolpyruvate carboxykinase gene promoter in patients with noninsulin-dependent diabetes mellitus. (8636258)
1996
41
IFN-gamma enhances production of IFN-alpha in human macrophages but not in monocytes. (8807500)
1996
42
Hemimegaloencephaly with periventricular heterotopia--case report. (7526246)
1994
43
Congenital syphilis: evaluation and management of neonates born to mothers with reactive serologic tests for syphilis. (7854881)
1994
44
Multiple metachronous skin squamous cell carcinomas and epidermodysplasia verruciformis in the head region: a human papilloma virus-associated disease. (7848644)
1994
45
Responses of myocardial high energy phosphates and wall thickening to prolonged regional hypoperfusion induced by subtotal coronary stenosis. (8371671)
1993
46
Concentration of prealbumin, ceruloplasmin, alpha-macroglobulin and haptoglobin in blood serum of patients with chronic non-A, non-B hepatitis treated with hemodialysis for chronic renal failure]. (1284260)
1992
47
Paraneoplastic syndromes. (3040785)
1987
48
Fetal hemoglobin variants identified in adults through restriction endonuclease gene mapping methodology. (2412617)
1985
49
Effect of 5-hydroxytryptophane upon electroencephalogram in hepatic coma. (13453484)
1957
50
A study of urinary excretion of xanthurenic acid and other tryptophan metabolites in human beings with pyridoxine deficiency induced by desoxypyridoxine. (14886005)
1951

Variations for Fryns Syndrome

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Expression for genes affiliated with Fryns Syndrome

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Search GEO for disease gene expression data for Fryns Syndrome.

Pathways for genes affiliated with Fryns Syndrome

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GO Terms for genes affiliated with Fryns Syndrome

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Sources for Fryns Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet