FRNS
MCID: FRY002
MIFTS: 45

Fryns Syndrome (FRNS) malady

Neuronal, Fetal categories

Summaries for Fryns Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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: Fryns Syndrome, also known as diaphragmatic hernia, abnormal face, and distal limb anomalies, is related to congenital diaphragmatic hernia and mental retardation, and has symptoms including hypertelorism, low set ears/posteriorly rotated ears and short neck. An important gene associated with Fryns Syndrome is MED12 (mediator complex subunit 12). Affiliated tissues include brain, kidney and lung, and related mouse phenotypes are normal and mortality/aging.

Genetics Home Reference:21 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:64 Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in... more...

Description from OMIM:47 229850

GeneReviews summary for fryns

Aliases & Classifications for Fryns Syndrome

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 49Orphanet, 47OMIM, 61UMLS, 62UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
fryns syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

fryns syndrome 19 43 20 22 21 49 47 61
diaphragmatic hernia, abnormal face, and distal limb anomalies 43 21
diaphragmatic hernia - abnormal face - distal limb anomalies 49
moerman van den berghe fryns syndrome 43
frontotemporal dementia 61
ftd-3 19
frns 43


External Ids:

UMLS via Orphanet62 C0220730
OMIM47 229850
MESH via Orphanet36 C538070
ICD10 via Orphanet26 Q87.8

Related Diseases for Fryns Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 104)
idRelated DiseaseScoreTop Affiliating Genes
1congenital diaphragmatic hernia30.6DISP1, HLX, ZFPM2
2mental retardation30.3FTSJ1, DLG3, MED12
3amyotrophic lateral sclerosis11.0
4lateral sclerosis11.0
5alzheimer's disease10.8
6inclusion body myopathy with early-onset paget disease and frontotemporal dementia10.8
7aphasia10.7
8grn-related frontotemporal dementia10.7
9semantic dementia10.7
10primary progressive aphasia10.7
11progressive supranuclear palsy10.7
12corticobasal degeneration10.7
13frontotemporal dementia, ubiquitin-positive10.6
14lujan fryns syndrome10.6
15lujan syndrome10.6
16frontotemporal dementia with parkinsonism-1710.6
17amyotrophic lateral sclerosis with frontotemporal dementia10.6
18pick's disease10.5
19parkinson's disease10.5
20n syndrome10.5
21bipolar disorder10.4
22brain disease10.4
23lewy body dementia10.4
24intracranial hypotension10.4
25tauopathy10.4
26inclusion body myopathy with paget disease of bone and/or frontotemporal dementia10.4
27inclusion body myopathy with early-onset paget disease and frontotemporal dementia 110.4
28amyotrophic lateral sclerosis 14, with or without frontotemporal dementia10.4
29petit-fryns syndrome10.4
30cartwright nelson fryns syndrome10.4
31vascular dementia10.3
32pathological gambling10.3
33tardbp-related frontotemporal dementia10.3
34inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 310.3
35marfan syndrome10.3
36micro syndrome10.3
37frints de smet fabry fryns syndrome10.3
38frontotemporal dementia10.3
39adult syndrome10.2
40vascular disease10.2
41neuronal intranuclear inclusion disease10.2
42alzheimer disease risk factor10.2
43vcp-related amyotrophic lateral sclerosis/frontotemporal dementia10.2
44c9orf72-related amyotrophic lateral sclerosis/frontotemporal dementia10.2
45ubqln2-related amyotrophic lateral sclerosis/frontotemporal dementia10.2
46cerebral atrophy10.2
47dementia, familial, nonspecific10.2
48inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 210.2
49memory impairment10.2
50amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia10.2

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



Diseases related to fryns syndrome

Clinical Features for Fryns Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

229850

Clinical synopsis from OMIM:

229850

Symptoms:

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

Drugs & Therapeutics for Fryns Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Fryns Syndrome

Drug clinical trials:

Search ClinicalTrials for Fryns Syndrome

Search NIH Clinical Center for Fryns Syndrome

Search CenterWatch for Fryns Syndrome

Genetic Tests for Fryns Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Fryns Syndrome:

id Genetic test Affiliating Genes
1 Fryns Syndrome20 22

Anatomical Context for Fryns Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Fryns Syndrome:

33
Brain, Kidney, Lung, Adrenal gland, T cells

Animal Models for Fryns Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Fryns Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028737.9ZFPM2, FTSJ1, MED12, DISP1
2MP:00107687.7ZFPM2, DLG3, MED12, HLX, DISP1

Publications for Fryns Syndrome

Sources:
51PubMed
See all sources

Articles related to Fryns Syndrome:

(show top 50)    (show all 89)
idTitleAuthorsYear
1
Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands. (24357154)
2013
2
Fryns Syndrome: A Lethal Birth Defect with Variable Phenotypic Expressions in Siblings. (23604607)
2013
3
Fryns syndrome with atypical findings--with large midline cleft on forehead but normal cranial MRI findings. (21290970)
2010
4
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. (19800039)
2009
5
Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effects? (19449404)
2009
6
Fryns syndrome: case report and review of the literature. (17960800)
2008
7
Anophthalmia, cleft lip/palate, absent vomer bone, nystagmus, and mental-motor retardation: a new syndrome or Fryns "anophthalmia-plus" syndrome? (18452356)
2008
8
Prenatal diagnosis of Fryns syndrome associated with a microdeletion at 8p23.1. (17602449)
2007
9
Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome. (16760741)
2006
10
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). (16831221)
2006
11
Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. (17036352)
2006
12
Fryns syndrome with osteochondrodysplasia. (15793837)
2005
13
Psychiatric symptomatology of Lujan-Fryns syndrome: an X-linked syndrome displaying Marfanoid symptoms with autistic features, hyperactivity, shyness and schizophreniform symptoms. (16094260)
2005
14
Fryns syndrome: report of eight new cases. (15654233)
2005
15
Severe epilepsy and pachygyria associated with peculiar facial traits characterize Fryns-Aftimos syndrome. (15794188)
2005
16
A case of Fryns syndrome without diaphragmatic hernia and review of the literature. (15194956)
2004
17
Fryns syndrome: a case associated with karyotype XO. (15323276)
2004
18
Documentation of anomalies not previously described in Fryns syndrome. (12494439)
2003
19
Fryns syndrome: a surviving case with associated Hirschsprung's disease and hemidiaphragmatic agenesis. (12047706)
2002
20
Fryns syndrome in children with congenital diaphragmatic hernia. (12483630)
2002
21
Preserved neurobehavioral abilities in Lujan-Fryns syndrome. (11807907)
2002
22
A fetus with pseudo Fryns syndrome and t(18;22) translocation. (11491314)
2001
23
Ocular findings in Fryns syndrome. (11167240)
2000
24
Diaphragmatic hernia and Fryns syndrome phenotype in partial trisomy 22. (10893671)
2000
25
Aortic root dilation in apparent Lujan-Fryns syndrome. (10508979)
1999
26
Scalp defects in Fryns syndrome. (9664213)
1998
27
Use of three-dimensional ultrasound to establish the prenatal diagnosis of Fryns syndrome. (8894628)
1996
28
Lujan-Fryns syndrome in the differential diagnosis of schizophrenia. (8723050)
1996
29
Prenatal diagnosis and long survival of Fryns syndrome. (7740009)
1995
30
Fryns syndrome: two further cases without lateral diaphragmatic defects. (8574427)
1995
31
Two fetuses with Fryns syndrome without diaphragmatic defects. (7891381)
1994
32
Fryns syndrome: a rare familial cause of congenital diaphragmatic hernia. (7807364)
1994
33
Fryns syndrome: a new definition. (8066003)
1994
34
Fryns syndrome. (8456824)
1993
35
Fryns syndrome: another example of non-lethal outcome with severe mental handicap. (1472353)
1992
36
Fryns syndrome without diaphragmatic hernia? (1785645)
1991
37
Osteochondrodysplasia in Fryns syndrome. (1903587)
1991
38
Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia. (2314962)
1990
39
Terminal deletion of 6q and Fryns syndrome: a microdeletion/syndrome pair? (2363440)
1990
40
Apparent Fryns syndrome in a boy with a tandem duplication of 1q24-31.2. (2596530)
1989
41
Ring chromosome 15 in a patient with features of Fryns' syndrome. (2746621)
1989
42
Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome. (2650550)
1989
43
Fryns syndrome: report on 8 new cases. (2650934)
1989
44
Fryns syndrome. (3346889)
1988
45
Fryns syndrome: a predictable, lethal pattern of multiple congenital anomalies. (3799773)
1987
46
Fryns syndrome in a girl born to consanguineous parents. (3564997)
1987
47
A case of Fryns syndrome. (3950939)
1986
48
The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance. (4075561)
1985
49
Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome. (6859098)
1983
50
Fryns syndrome without deletion 16q. (6968534)
1980

Genetic Variations for Fryns Syndrome

Expression for genes affiliated with Fryns Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Fryns Syndrome

Search GEO for disease gene expression data for Fryns Syndrome.

Pathways for genes affiliated with Fryns Syndrome

Compounds for genes affiliated with Fryns Syndrome

GO Terms for genes affiliated with Fryns Syndrome

Sources:
16Gene Ontology
See all sources

Molecular functions related to Fryns Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein C-terminus bindingGO:0080229.6DLG3, MED12

Products for genes affiliated with Fryns Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fryns Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet