FMD
MCID: FRN012
MIFTS: 50

Frontometaphyseal Dysplasia (FMD)

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

Aliases & Classifications for Frontometaphyseal Dysplasia

MalaCards integrated aliases for Frontometaphyseal Dysplasia:

Name: Frontometaphyseal Dysplasia 12 52 25 58 36 29 54 6 43 15 71
Fmd 12 25
Dysplasia, Frontometaphyseal 39

Characteristics:

Orphanet epidemiological data:

58
frontometaphyseal dysplasia
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111785
KEGG 36 H02227
MeSH 43 C538064
SNOMED-CT 67 62803002
MESH via Orphanet 44 C538064
ICD10 via Orphanet 33 Q78.5
UMLS via Orphanet 72 C0265293
Orphanet 58 ORPHA1826
UMLS 71 C0265293

Summaries for Frontometaphyseal Dysplasia

Genetics Home Reference : 25 Frontometaphyseal dysplasia is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and Melnick-Needles syndrome. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits). Frontometaphyseal dysplasia is distinguished from the other otopalatodigital spectrum disorders by the presence of joint deformities called contractures that restrict the movement of certain joints. People with frontometaphyseal dysplasia may also have bowed limbs, an abnormal curvature of the spine (scoliosis), and abnormalities of the fingers and hands. Characteristic facial features may include prominent brow ridges; wide-set and downward-slanting eyes; a very small lower jaw and chin (micrognathia); and small, missing or misaligned teeth. Some affected individuals have hearing loss. In addition to skeletal abnormalities, individuals with frontometaphyseal dysplasia may have obstruction of the ducts between the kidneys and bladder (ureters), heart defects, or constrictions in the passages leading from the windpipe to the lungs (the bronchi) that can cause problems with breathing. Males with frontometaphyseal dysplasia generally have more severe signs and symptoms of the disorder than do females, who may show only the characteristic facial features.

MalaCards based summary : Frontometaphyseal Dysplasia, also known as fmd, is related to frontometaphyseal dysplasia 2 and frontometaphyseal dysplasia 1. An important gene associated with Frontometaphyseal Dysplasia is FLNA (Filamin A), and among its related pathways/superpathways are MAPK signaling pathway and Osteoclast differentiation. Affiliated tissues include bone, heart and eye, and related phenotypes are hypertelorism and prominent supraorbital ridges

Disease Ontology : 12 An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss.

NIH Rare Diseases : 52 Frontometaphyseal dysplasia (FMD) is a genetic disorder characterized by abnormalities in skeletal development and problems in other organs of the body. It is part of a group of diseases called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1 , otopalatodigital syndrome type 2 , and Melnick-Needles syndrome . In general, these disorders involve hearing loss (due to malformations in the tiny bones in the ears (ossicles )), cleft roof of the mouth (palate), and defects of the bones in the fingers and/or toes (digits). Frontometaphyseal dysplasia is distinguished from the other diseases of the group by the presence of joint deformities (contractures ) that restrict the movement of certain joints. Other symptoms may include prominent brow ridges; wide-set and downward-slanting eyes; a very small lower jaw and chin (micrognathia ); small, missing or misaligned teeth; bowed limbs; an abnormal curvature of the spine (scoliosis ); obstruction of ureters; heart defects; and breathing problems. Males generally have more severe features than females. FMD is caused by mutations in the FLNA gene . Inheritance is X-linked . There is also a form of FMD caused by mutations in the gene MAP3K7 with is known as frontometaphyseal dysplasia 2 and it is is inherited in an autosomal dominant manner. Treatment depends on the problems present and may include hearing aid and surgery to correct the facial findings and the bone defects.

KEGG : 36 Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia affecting the long bones and skull. The cause of FMD in some individuals is mutations in the X-linked gene, FLNA. Recently, it has been reported that mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause FMD.

Related Diseases for Frontometaphyseal Dysplasia

Diseases in the Frontometaphyseal Dysplasia family:

Frontometaphyseal Dysplasia 1 Frontometaphyseal Dysplasia 2

Diseases related to Frontometaphyseal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 frontometaphyseal dysplasia 2 34.8 MAP3K7 ADGRV1
2 frontometaphyseal dysplasia 1 34.5 MT1E LOC107988032 FLNA ADGRV1
3 otopalatodigital syndrome, type i 33.6 FLNB FLNA
4 otopalatodigital syndrome, type ii 33.2 FLNC FLNB FLNA
5 melnick-needles syndrome 33.2 LOC107988032 FLNB FLNA
6 periventricular nodular heterotopia 1 30.7 LOC107988032 FLNA
7 boomerang dysplasia 30.5 FLNC FLNB FLNA
8 atelosteogenesis 30.3 PAPSS2 FLNB FLNA
9 periventricular nodular heterotopia 29.9 PTBP3 LOC107988032 FLNC FLNB FLNA
10 fibromuscular dysplasia 12.4
11 facioscapulohumeral muscular dystrophy 1 11.4
12 coronary artery dissection, spontaneous 11.2
13 mouth disease 11.1
14 x-linked otopalatodigital spectrum disorders 10.6
15 hyperostosis 10.5
16 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 10.4 LOC107988032 FLNA
17 fg syndrome 2 10.4 LOC107988032 FLNA
18 cohen syndrome 10.4
19 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
20 scoliosis 10.4
21 keloid disorder 10.4
22 cardiospondylocarpofacial syndrome 10.3 MAP3K7 FLNB
23 cleft palate, isolated 10.3
24 alacrima, achalasia, and mental retardation syndrome 10.3
25 skeletal dysplasias 10.3
26 terminal osseous dysplasia 10.3 LOC107988032 FLNA
27 arteries, anomalies of 10.3
28 hyperlipoproteinemia, type iii 10.3
29 lipoprotein quantitative trait locus 10.3
30 47,xyy 10.3
31 myopathy, myofibrillar, 5 10.2 FLNC FLNB FLNA
32 odontochondrodysplasia 10.2
33 branchiootic syndrome 1 10.2
34 metaphyseal dysplasia 10.2
35 tracheal stenosis 10.2
36 follicular lymphoma 10.2
37 ischemia 10.2
38 heart valve disease 10.2
39 anthrax disease 10.2
40 cytokine deficiency 10.2
41 dermatophytosis 10.1 FLNC FLNA
42 otopalatodigital syndrome spectrum disorder 10.1 NR3C2 MTR MAP3K7 FLNB FLNA
43 acroosteolysis 10.1
44 craniometaphyseal dysplasia, autosomal dominant 10.1
45 keloid formation 10.1
46 keratitis, hereditary 10.1
47 laryngomalacia 10.1
48 pectus excavatum 10.1
49 neural tube defects 10.1
50 chiari malformation type ii 10.1

Graphical network of the top 20 diseases related to Frontometaphyseal Dysplasia:



Diseases related to Frontometaphyseal Dysplasia

Symptoms & Phenotypes for Frontometaphyseal Dysplasia

Human phenotypes related to Frontometaphyseal Dysplasia:

58 31 (show top 50) (show all 82)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 prominent supraorbital ridges 58 31 hallmark (90%) Very frequent (99-80%) HP:0000336
3 sensorineural hearing impairment 58 31 hallmark (90%) Frequent (79-30%) HP:0000407
4 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
5 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
6 conductive hearing impairment 58 31 hallmark (90%) Frequent (79-30%) HP:0000405
7 camptodactyly of finger 58 31 hallmark (90%) Frequent (79-30%) HP:0100490
8 craniofacial hyperostosis 31 hallmark (90%) HP:0004493
9 bowing of the long bones 31 hallmark (90%) HP:0006487
10 joint stiffness 31 hallmark (90%) HP:0001387
11 abnormality of the metaphysis 31 hallmark (90%) HP:0000944
12 reduced number of teeth 31 hallmark (90%) HP:0009804
13 abnormality of dental morphology 31 hallmark (90%) HP:0006482
14 absent/hypoplastic paranasal sinuses 31 hallmark (90%) HP:0005453
15 scoliosis 58 31 frequent (33%) Very frequent (99-80%) HP:0002650
16 fused cervical vertebrae 58 31 frequent (33%) Frequent (79-30%) HP:0002949
17 hypoplasia of the musculature 58 31 frequent (33%) Occasional (29-5%) HP:0009004
18 short distal phalanx of the thumb 58 31 frequent (33%) Frequent (79-30%) HP:0009650
19 long fingers 58 31 frequent (33%) Very frequent (99-80%) HP:0100807
20 abnormal form of the vertebral bodies 31 frequent (33%) HP:0003312
21 high palate 31 frequent (33%) HP:0000218
22 elbow dislocation 31 frequent (33%) HP:0003042
23 ulnar deviation of finger 31 frequent (33%) HP:0009465
24 synostosis of carpal bones 31 frequent (33%) HP:0005048
25 accelerated skeletal maturation 31 frequent (33%) HP:0005616
26 short distal phalanx of hallux 31 frequent (33%) HP:0010103
27 posterior vertebral hypoplasia 31 frequent (33%) HP:0008451
28 irregular metacarpals 31 frequent (33%) HP:0006160
29 long metacarpals 31 frequent (33%) HP:0010493
30 hydronephrosis 58 31 occasional (7.5%) Frequent (79-30%) HP:0000126
31 urethral stenosis 58 31 occasional (7.5%) Frequent (79-30%) HP:0008661
32 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
33 subglottic stenosis 58 31 occasional (7.5%) Frequent (79-30%) HP:0001607
34 atrioventricular canal defect 31 occasional (7.5%) HP:0006695
35 tracheal stenosis 31 occasional (7.5%) HP:0002777
36 ureteral stenosis 31 occasional (7.5%) HP:0000071
37 coarse facial features 58 Frequent (79-30%)
38 hearing impairment 58 Very frequent (99-80%)
39 intellectual disability 58 Occasional (29-5%)
40 skeletal dysplasia 58 Very frequent (99-80%)
41 wide nasal bridge 58 Very frequent (99-80%)
42 abnormal facial shape 58 Very frequent (99-80%)
43 broad thumb 58 Very frequent (99-80%)
44 full cheeks 58 Frequent (79-30%)
45 cleft palate 58 Occasional (29-5%)
46 growth delay 58 Occasional (29-5%)
47 sprengel anomaly 58 Occasional (29-5%)
48 elbow flexion contracture 58 Frequent (79-30%)
49 limited elbow movement 58 Frequent (79-30%)
50 amblyopia 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Frontometaphyseal Dysplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.4 ACD FLNA FLNB FLNC MTR NR3C2

Drugs & Therapeutics for Frontometaphyseal Dysplasia

Search Clinical Trials , NIH Clinical Center for Frontometaphyseal Dysplasia

Cochrane evidence based reviews: frontometaphyseal dysplasia

Genetic Tests for Frontometaphyseal Dysplasia

Genetic tests related to Frontometaphyseal Dysplasia:

# Genetic test Affiliating Genes
1 Frontometaphyseal Dysplasia 29

Anatomical Context for Frontometaphyseal Dysplasia

MalaCards organs/tissues related to Frontometaphyseal Dysplasia:

40
Bone, Heart, Eye, Lung, Kidney

Publications for Frontometaphyseal Dysplasia

Articles related to Frontometaphyseal Dysplasia:

(show top 50) (show all 72)
# Title Authors PMID Year
1
Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. 6 54 61
16596676 2006
2
X-Linked Otopalatodigital Spectrum Disorders 6 61
20301567 2005
3
A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation. 61 6
15523633 2005
4
CT and MR findings in frontometaphyseal dysplasia. 6 61
9071288 1997
5
Filamin A: phenotypic diversity. 6
15917206 2005
6
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings. 61 54
17431908 2007
7
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. 61 54
16835913 2006
8
A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. 54 61
14988809 2004
9
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 61 54
12612583 2003
10
A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype. 61
32299812 2020
11
Anterior Segment Dysgenesis With Accessory Iris Membranes in an Infant With Otopalatodigital Spectrum Disorder and Mutation in the FLNA Gene. 61
31978233 2020
12
Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7. 61
29660408 2018
13
Whole genome sequencing and 6-year follow-up of a mother and daughter with frontometaphyseal dysplasia associated with keratitis, xerosis, poikiloderma, and acro-osteolysis: A case report. 61
29995760 2018
14
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder. 61
29467388 2018
15
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations. 61
28386937 2018
16
Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With FLNA. 61
29237676 2017
17
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. 61
28498505 2017
18
Skeletal Dysplasia Mutations Effect on Human Filamins' Structure and Mechanosensing. 61
28652603 2017
19
Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin A. 61
28348077 2017
20
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. 61
27193221 2016
21
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. 61
27426733 2016
22
Fetal phenotypes in otopalatodigital spectrum disorders. 61
26404489 2016
23
Association of mutations in FLNA with craniosynostosis. 61
25873011 2015
24
Frontometaphyseal dysplasia and keloid formation without FLNA mutations. 61
25899317 2015
25
Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation. 61
25820619 2015
26
Airway management of a child with frontometaphyseal dysplasia (Gorlin Cohen syndrome). 61
24803775 2014
27
Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report. 61
22233653 2012
28
Structure of filamin A immunoglobulin-like repeat 10 from Homo sapiens. 61
21821884 2011
29
Lung disease associated with periventricular nodular heterotopia and an FLNA mutation. 61
20888935 2011
30
Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome. 61
20186808 2010
31
The Erlenmeyer flask bone deformity in the skeletal dysplasias. 61
19444897 2009
32
Professional awareness is needed to distinguish between child physical abuse from other disorders that can mimic signs of abuse (Skull base sclerosis in infant manifesting features of infantile cortical hyperostosis): a case report and review of the literature. 61
19203363 2009
33
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. 61
16926860 2007
34
Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders. 61
16538226 2006
35
A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation. 61
15940695 2005
36
A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype. 61
15654694 2005
37
The infant skull: a vault of information. 61
15026597 2004
38
Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families. 61
12503106 2003
39
Frontometaphyseal dysplasia: patient with ruptured aneurysm of the aortic sinus of Valsalva and cerebral aneurysms. 61
11891696 2002
40
[Frontometaphyseal dysplasia]. 61
11462655 2001
41
Otopalatodigital syndrome and frontometaphyseal dysplasia, splitters and lumpers, and paternity of ideas. 61
11074503 2000
42
Foot deformity in frontometaphyseal dysplasia (Gorlin-Cohen syndrome): a case report. 61
10789105 2000
43
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. 61
10706363 2000
44
Frontometaphyseal dysplasia: a case with Arnold-Chiari malformation and bracket epiphysis of the first metacarpal bone. 61
10221024 1999
45
Cranioplasty in frontometaphyseal dysplasia. 61
9734434 1998
46
Radiographic findings in Shprintzen-Goldberg syndrome. 61
8929375 1996
47
Radiological changes of frontometaphyseal dysplasia in the neonate. 61
8577509 1995
48
Frontometaphyseal dysplasia: neonatal radiographic diagnosis. 61
7645585 1995
49
Restrictive chest bellows disease and frontometaphyseal dysplasia. 61
8131478 1993
50
Case report 717. Osteodysplasty (Melnick-Needles syndrome). 61
1566112 1992

Variations for Frontometaphyseal Dysplasia

ClinVar genetic disease variations for Frontometaphyseal Dysplasia:

6 (show top 50) (show all 525) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FLNA NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu)SNV Pathogenic 405445 rs1060500716 X:153588495-153588495 X:154360127-154360127
2 FLNA NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs)deletion Pathogenic 405447 rs1060500718 X:153581697-153581698 X:154353329-154353330
3 FLNA NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs)deletion Pathogenic 464997 rs1557177086 X:153585895-153585907 X:154357527-154357539
4 FLNA NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer)duplication Pathogenic 465027 rs1557179357 X:153594986-153594987 X:154366618-154366619
5 FLNA NM_001110556.2(FLNA):c.3814del (p.Arg1272fs)deletion Pathogenic 533585 rs1557177636 X:153588265-153588265 X:154359897-154359897
6 FLNA NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter)SNV Pathogenic 533562 rs1557177738 X:153588634-153588634 X:154360266-154360266
7 FLNA NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter)SNV Pathogenic 574177 rs1557177623 X:153588214-153588214 X:154359846-154359846
8 FLNA NM_001110556.2(FLNA):c.2565+1G>ASNV Pathogenic 575118 rs786205186 X:153590785-153590785 X:154362417-154362417
9 FLNA NM_001110556.2(FLNA):c.5643del (p.Asn1881fs)deletion Pathogenic 575768 rs1569551502 X:153582326-153582326 X:154353958-154353958
10 FLNA NM_001110556.2(FLNA):c.5879dup (p.Met1960fs)duplication Pathogenic 647567 X:153581806-153581807 X:154353438-154353439
11 FLNA NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs)deletion Pathogenic 652215 X:153577288-153577289 X:154348920-154348921
12 FLNA NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs)indel Pathogenic 662513 X:153588859-153588867 X:154360491-154360499
13 FLNA NM_001110556.2(FLNA):c.2452del (p.Ala818fs)deletion Pathogenic 659278 X:153590899-153590899 X:154362531-154362531
14 FLNA NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter)SNV Pathogenic 856285 X:153582022-153582022 X:154353654-154353654
15 FLNA NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter)SNV Pathogenic 864458 X:153594745-153594745 X:154366377-154366377
16 FLNA NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter)SNV Pathogenic 853726 X:153594961-153594961 X:154366593-154366593
17 FLNA NM_001110556.2(FLNA):c.3476A>C (p.Asp1159Ala)SNV Pathogenic 11757 rs28935471 X:153588687-153588687 X:154360319-154360319
18 FLNA NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu)SNV Pathogenic/Likely pathogenic 11761 rs137853312 X:153588606-153588606 X:154360238-154360238
19 FLNA NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)SNV Pathogenic/Likely pathogenic 209154 rs797045044 X:153586596-153586596 X:154358228-154358228
20 FLNA NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter)SNV Pathogenic/Likely pathogenic 580826 rs1569551861 X:153596053-153596053 X:154367685-154367685
21 FLNA NM_001110556.2(FLNA):c.5686+1G>CSNV Likely pathogenic 533566 rs1557176315 X:153582282-153582282 X:154353914-154353914
22 FLNA NM_001110556.2(FLNA):c.4142+1G>ASNV Likely pathogenic 662049 X:153587851-153587851 X:154359483-154359483
23 FLNA NM_001110556.2(FLNA):c.4596_4598+5deldeletion Likely pathogenic 464993 rs1557177279 X:153586808-153586815 X:154358440-154358447
24 FLNA NM_001110556.2(FLNA):c.4143-1G>TSNV Likely pathogenic 464989 rs1557177485 X:153587775-153587775 X:154359407-154359407
25 FLNA NM_001110556.2(FLNA):c.2827-2A>CSNV Likely pathogenic 859086 X:153590157-153590157 X:154361789-154361789
26 FLNA NM_001110556.2(FLNA):c.1065+1G>TSNV Likely pathogenic 841425 X:153594929-153594929 X:154366561-154366561
27 FLNA NM_001110556.2(FLNA):c.7768_7770CTG[1] (p.Leu2591del)short repeat Likely pathogenic 854776 X:153577388-153577390 X:154349020-154349022
28 FLNA NM_001110556.2(FLNA):c.1429+8C>TSNV Conflicting interpretations of pathogenicity 93750 rs202181557 X:153594384-153594384 X:154366016-154366016
29 FLNA NM_001110556.2(FLNA):c.237G>C (p.Ala79=)SNV Conflicting interpretations of pathogenicity 93751 rs200626788 X:153599377-153599377 X:154371009-154371009
30 FLNA NM_001110556.2(FLNA):c.3147C>T (p.Gly1049=)SNV Conflicting interpretations of pathogenicity 93754 rs398123615 X:153589736-153589736 X:154361368-154361368
31 FLNA NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met)SNV Conflicting interpretations of pathogenicity 93757 rs398123617 X:153588784-153588784 X:154360416-154360416
32 FLNA NM_001110556.2(FLNA):c.4263C>T (p.Thr1421=)SNV Conflicting interpretations of pathogenicity 93759 rs398123618 X:153587654-153587654 X:154359286-154359286
33 FLNA NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp)SNV Conflicting interpretations of pathogenicity 11772 rs137853317 X:153596246-153596246 X:154367878-154367878
34 FLNA NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=)SNV Conflicting interpretations of pathogenicity 211015 rs372265042 X:153588446-153588446 X:154360078-154360078
35 FLNA NM_001110556.2(FLNA):c.2613C>T (p.Asp871=)SNV Conflicting interpretations of pathogenicity 211014 rs188212919 X:153590653-153590653 X:154362285-154362285
36 FLNA NM_001110556.2(FLNA):c.1029C>T (p.Ser343=)SNV Conflicting interpretations of pathogenicity 198468 rs199853721 X:153594966-153594966 X:154366598-154366598
37 FLNA NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys)SNV Conflicting interpretations of pathogenicity 213510 rs782557713 X:153578119-153578119 X:154349751-154349751
38 FLNA NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser)SNV Conflicting interpretations of pathogenicity 213481 rs375205247 X:153581169-153581169 X:154352801-154352801
39 FLNA NM_001110556.2(FLNA):c.6314C>G (p.Thr2105Ser)SNV Conflicting interpretations of pathogenicity 213480 rs200200745 X:153581205-153581205 X:154352837-154352837
40 FLNA NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser)SNV Conflicting interpretations of pathogenicity 213477 rs373089783 X:153582823-153582823 X:154354455-154354455
41 FLNA NM_001110556.2(FLNA):c.5313+4C>TSNV Conflicting interpretations of pathogenicity 213452 rs377330443 X:153582980-153582980 X:154354612-154354612
42 FLNA NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser)SNV Conflicting interpretations of pathogenicity 213451 rs56102764 X:153583046-153583046 X:154354678-154354678
43 FLNA NM_001110556.2(FLNA):c.4327C>A (p.His1443Asn)SNV Conflicting interpretations of pathogenicity 213448 rs863223617 X:153587499-153587499 X:154359131-154359131
44 FLNA NM_001110556.2(FLNA):c.4082A>G (p.His1361Arg)SNV Conflicting interpretations of pathogenicity 213506 rs782774182 X:153587912-153587912 X:154359544-154359544
45 FLNA NM_001110556.2(FLNA):c.1239G>A (p.Thr413=)SNV Conflicting interpretations of pathogenicity 129059 rs200278701 X:153594582-153594582 X:154366214-154366214
46 FLNA NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys)SNV Conflicting interpretations of pathogenicity 129060 rs202029322 X:153593616-153593616 X:154365248-154365248
47 FLNA NM_001110556.2(FLNA):c.2023-8C>TSNV Conflicting interpretations of pathogenicity 129061 rs587780335 X:153592748-153592748 X:154364380-154364380
48 FLNA NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=)SNV Conflicting interpretations of pathogenicity 129062 rs370868704 X:153589838-153589838 X:154361470-154361470
49 FLNA NM_001110556.2(FLNA):c.1691+7C>ASNV Conflicting interpretations of pathogenicity 129066 rs199565118 X:153593497-153593497 X:154365129-154365129
50 FLNA NM_001110556.2(FLNA):c.2178C>T (p.Asn726=)SNV Conflicting interpretations of pathogenicity 129068 rs371501734 X:153592492-153592492 X:154364124-154364124

Expression for Frontometaphyseal Dysplasia

Search GEO for disease gene expression data for Frontometaphyseal Dysplasia.

Pathways for Frontometaphyseal Dysplasia

Pathways related to Frontometaphyseal Dysplasia according to KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010

Pathways related to Frontometaphyseal Dysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.32 TAB2 MAP3K7 FLNC FLNB FLNA
2 11.69 TAB2 SIRPA MAP3K7
3 11.67 TAB2 MAP3K7 FLNC FLNB FLNA
4 10.81 TAB2 MAP3K7 FLNA
5 10.62 PAPSS2 PAPSS1
6 10.32 PAPSS2 PAPSS1
7 10.03 PAPSS2 PAPSS1 MTR

GO Terms for Frontometaphyseal Dysplasia

Cellular components related to Frontometaphyseal Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 8.8 FLNC FLNB FLNA

Biological processes related to Frontometaphyseal Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.26 TAB2 MAP3K7
2 cell junction assembly GO:0034329 9.16 FLNC FLNA
3 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process GO:0050428 8.96 PAPSS2 PAPSS1
4 sulfate assimilation GO:0000103 8.62 PAPSS2 PAPSS1

Molecular functions related to Frontometaphyseal Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sulfate adenylyltransferase (ATP) activity GO:0004781 8.96 PAPSS2 PAPSS1
2 adenylylsulfate kinase activity GO:0004020 8.62 PAPSS2 PAPSS1

Sources for Frontometaphyseal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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