FRNS
MCID: FRY002
MIFTS: 49

Fryns Syndrome (FRNS) malady

Neuronal diseases, Fetal diseases categories

Summaries for Fryns Syndrome

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42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 frontotemporal dementia, and has symptoms including absent/small fingernails/anonychia of hands, imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula and excess nuchal skin without pterygium colli. An important gene associated with Fryns Syndrome is MED12 (mediator complex subunit 12). Affiliated tissues include lung, kidney and brain, 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:63 Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in... more...

Description from OMIM:46 229850

GeneReviews summary for fryns

Aliases & Classifications for Fryns Syndrome

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Sources:
60UMLS, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 48Orphanet, 46OMIM, 61UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
fryns syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

fryns syndrome 19 42 20 22 21 48 46 60
diaphragmatic hernia, abnormal face, and distal limb anomalies 42 21
diaphragmatic hernia - abnormal face - distal limb anomalies 48
moerman van den berghe fryns syndrome 42
frontotemporal dementia 60
frns 42


External Ids:

UMLS via Orphanet61 C0220730
OMIM46 229850
MESH via Orphanet35 C538070
ICD10 via Orphanet26 Q87.8

Related Diseases for Fryns Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Fryns Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 105)
idRelated DiseaseScoreTop Affiliating Genes
1congenital diaphragmatic hernia30.6ZFPM2, HLX, DISP1
2frontotemporal dementia11.5
3dementia11.5
4alzheimer's disease11.0
5amyotrophic lateral sclerosis10.9
6lateral sclerosis10.9
7neuronitis10.9
8motor neuron disease10.8
9inclusion body myopathy with early-onset paget disease and frontotemporal dementia10.8
10myopathy10.8
11pick's disease10.7
12aphasia10.7
13grn-related frontotemporal dementia10.7
14progressive supranuclear palsy10.7
15frontotemporal dementia with parkinsonism-1710.6
16tauopathy10.6
17amyotrophic lateral sclerosis with frontotemporal dementia10.6
18chmp2b-related frontotemporal dementia10.6
19cerebritis10.5
20frontotemporal dementia, chromosome 3-linked10.5
21lewy body dementia10.5
22inclusion body myopathy with paget disease of bone and/or frontotemporal dementia10.5
23bipolar disorder10.4
24brain disease10.4
25chromosomal disease10.4
26lujan fryns syndrome10.4
27intracranial hypotension10.4
28paget's disease of bone10.4
29frontotemporal dementia, ubiquitin-positive10.4
30inclusion body myopathy with early-onset paget disease and frontotemporal dementia 110.4
31amyotrophic lateral sclerosis 14, with or without frontotemporal dementia10.4
32petit-fryns syndrome10.3
33cartwright nelson fryns syndrome10.3
34lujan syndrome10.3
35parkinson's disease10.3
36vascular dementia10.3
37pathological gambling10.3
38tardbp-related frontotemporal dementia10.3
39inclusion body myopathy wtih early-onset paget disease without frontotemporal dementia 310.3
40frints de smet fabry fryns syndrome10.3
41die smulders vles fryns syndrome10.2
42male pseudohermaphroditism intellectual disability syndrome, verloes type10.2
43huntington's disease10.2
44adult syndrome10.2
45vascular disease10.2
46vitamin b12 deficiency10.2
47primary progressive aphasia10.2
48vcp-related amyotrophic lateral sclerosis/frontotemporal dementia10.2
49c9orf72-related amyotrophic lateral sclerosis/frontotemporal dementia10.2
50ubqln2-related amyotrophic lateral sclerosis/frontotemporal dementia10.2

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



Diseases related to fryns syndrome

Clinical Features for Fryns Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

229850

Clinical synopsis from OMIM:

229850

Symptoms:

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

Drugs & Therapeutics for Fryns Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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20GeneTests, 22GTR
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Genetic tests related to Fryns Syndrome:

id Genetic test Affiliating Genes
1 Fryns Syndrome20 22

Anatomical Context for Fryns Syndrome

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32MalaCards
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MalaCards organs/tissues related to Fryns Syndrome:

32
Lung, Kidney, Brain, Testes, Bone, Skin, Uterus, Eye, Adrenal gland

Animal Models for Fryns Syndrome or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Fryns Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028737.9ZFPM2, FTSJ1, MED12, DISP1
2MP:00107687.7ZFPM2, DLG3, MED12, HLX, DISP1

Publications for Fryns Syndrome

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Sources:
50PubMed
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Articles related to Fryns Syndrome:

(show top 50)    (show all 89)
idTitleAuthorsYear
1
Fryns anophthalmia-plus syndrome in an 18-week-old fetus. (21675878)
2012
2
Fryns syndrome with atypical findings--with large midline cleft on forehead but normal cranial MRI findings. (21290970)
2010
3
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
4
Fryns syndrome: case report and review of the literature. (17960800)
2008
5
Anophthalmia, cleft lip/palate, absent vomer bone, nystagmus, and mental-motor retardation: a new syndrome or Fryns "anophthalmia-plus" syndrome? (18452356)
2008
6
Prenatal diagnosis of Fryns syndrome associated with a microdeletion at 8p23.1. (17602449)
2007
7
Fryns syndrome: a lethal mesoectodermal birth defect with variable expression in a pair of monozygotic twins. (17384863)
2007
8
Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome. (16760741)
2006
9
Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report. (17103446)
2006
10
Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. (17036352)
2006
11
A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism. (16080293)
2005
12
Psychiatric symptomatology of Lujan-Fryns syndrome: an X-linked syndrome displaying Marfanoid symptoms with autistic features, hyperactivity, shyness and schizophreniform symptoms. (16094260)
2005
13
Fryns syndrome: report of eight new cases. (15654233)
2005
14
Severe epilepsy and pachygyria associated with peculiar facial traits characterize Fryns-Aftimos syndrome. (15794188)
2005
15
A case of Fryns syndrome without diaphragmatic hernia and review of the literature. (15194956)
2004
16
Fryns syndrome: a case associated with karyotype XO. (15323276)
2004
17
Eye abnormalities in Fryns syndrome. (14994236)
2004
18
Documentation of anomalies not previously described in Fryns syndrome. (12494439)
2003
19
Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. (12784307)
2003
20
Expanding the limits of the Fryns syndrome. (12949980)
2003
21
Pathologic quiz case: hypoplastic digit, diaphragmatic hernia, and agenesis of the corpus callosum in a 21(5/7)-week fetus. Fryns syndrome. (14567736)
2003
22
Cleft-palate lateral synechia syndrome: insight into the phenotypic spectrum of Fryns syndrome? (12962292)
2003
23
Ocular findings in Fryns syndrome. (11167240)
2000
24
Diaphragmatic hernia and Fryns syndrome phenotype in partial trisomy 22. (10893671)
2000
25
Variability in the phenotypic expression of fryns syndrome: A report of two sibships. (11146459)
2000
26
Aortic root dilation in apparent Lujan-Fryns syndrome. (10508979)
1999
27
Hematometra and sudden death after status epilepticus in the adolescent female with Fryns syndrome. (10546108)
1999
28
Scalp defects in Fryns syndrome. (9664213)
1998
29
Fryns syndrome: prenatal diagnosis and pathologic correlation. (9733178)
1998
30
Use of three-dimensional ultrasound to establish the prenatal diagnosis of Fryns syndrome. (8894628)
1996
31
Fryns syndrome and erupted teeth in a 24-weeks-old fetus. (8831132)
1996
32
Fryns syndrome phenotype and trisomy 22. (8741922)
1996
33
Lujan-Fryns syndrome in the differential diagnosis of schizophrenia. (8723050)
1996
34
Fryns syndrome survivors and neurologic outcome. (8599357)
1995
35
Prenatal diagnosis and long survival of Fryns syndrome. (7740009)
1995
36
Fryns syndrome: neurologic findings in a survivor. (7782599)
1995
37
Fryns syndrome: two further cases without lateral diaphragmatic defects. (8574427)
1995
38
Two fetuses with Fryns syndrome without diaphragmatic defects. (7891381)
1994
39
Fryns syndrome: a new definition. (8066003)
1994
40
Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review. (8267926)
1993
41
Fryns syndrome without diaphragmatic hernia? (1785645)
1991
42
Osteochondrodysplasia in Fryns syndrome. (1903587)
1991
43
Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia. (2314962)
1990
44
Apparent Fryns syndrome in a boy with a tandem duplication of 1q24-31.2. (2596530)
1989
45
Ring chromosome 15 in a patient with features of Fryns' syndrome. (2746621)
1989
46
Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome. (2650550)
1989
47
The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome. (3239572)
1988
48
Fryns syndrome. (3346889)
1988
49
Fryns syndrome: a predictable, lethal pattern of multiple congenital anomalies. (3799773)
1987
50
Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome. (6859098)
1983

Genetic Variations for Fryns Syndrome

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Expression for genes affiliated with Fryns Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Compounds for genes affiliated with Fryns Syndrome

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GO Terms for genes affiliated with Fryns Syndrome

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16Gene Ontology
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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

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Sources for Fryns Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet