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FMD
MCID: FRN012
MIFTS: 49

Frontometaphyseal Dysplasia (FMD)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Frontometaphyseal Dysplasia

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MalaCards integrated aliases for Frontometaphyseal Dysplasia:

Name: Frontometaphyseal Dysplasia 53 25 59 37 29 55 6 72
Dysplasia, Frontometaphyseal 40
Fmd 25

Characteristics:

Orphanet epidemiological data:

59
frontometaphyseal dysplasia
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Neuronal diseases Bone diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

KEGG 37 H02227
MESH via Orphanet 45 C538064
ICD10 via Orphanet 34 Q78.5
UMLS via Orphanet 73 C0265293
Orphanet 59 ORPHA1826
UMLS 72 C0265293
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Summaries for Frontometaphyseal Dysplasia

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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 dysplasia, frontometaphyseal, is related to melnick-needles syndrome and periventricular nodular heterotopia 1. An important gene associated with Frontometaphyseal Dysplasia is FLNA (Filamin A), and among its related pathways/superpathways are MAPK signaling pathway and Cytosolic sensors of pathogen-associated DNA. Affiliated tissues include bone, heart and eye, and related phenotypes are hypertelorism and prominent supraorbital ridges

NIH Rare Diseases : 53 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 : 37
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.

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Related Diseases for Frontometaphyseal Dysplasia

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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 77)
# Related Disease Score Top Affiliating Genes
1 melnick-needles syndrome 31.5 LOC105373386 FLNA
2 periventricular nodular heterotopia 1 29.3 LOC105373386 FLNA
3 periventricular nodular heterotopia 29.2 LOC105373386 FLNA
4 frontometaphyseal dysplasia 2 12.8
5 frontometaphyseal dysplasia 1 12.7
6 fibromuscular dysplasia 12.4
7 otopalatodigital syndrome, type i 12.0
8 otopalatodigital syndrome, type ii 11.9
9 facioscapulohumeral muscular dystrophy 1 11.4
10 coronary artery dissection, spontaneous 11.2
11 mouth disease 11.1
12 otopalatodigital spectrum disorders 10.6
13 hyperostosis 10.5
14 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
15 cohen syndrome 10.4
16 scoliosis 10.4
17 keloid disorder 10.4
18 cleft palate, isolated 10.3
19 alacrima, achalasia, and mental retardation syndrome 10.3
20 skeletal dysplasias 10.3
21 pyle disease 10.2
22 branchiootic syndrome 1 10.2
23 tracheal stenosis 10.2
24 arteries, anomalies of 10.2
25 hyperlipoproteinemia, type iii 10.2
26 coronary artery anomaly 10.2
27 ischemia 10.2
28 heart valve disease 10.2
29 anthrax disease 10.2
30 47,xyy 10.2
31 cytokine deficiency 10.2
32 acroosteolysis 10.1
33 atelosteogenesis, type iii 10.1
34 boomerang dysplasia 10.1
35 craniometaphyseal dysplasia, autosomal dominant 10.1
36 keloid formation 10.1
37 keratitis, hereditary 10.1
38 laryngomalacia 10.1
39 pectus excavatum 10.1
40 neural tube defects 10.1
41 chiari malformation type ii 10.1
42 yunis-varon syndrome 10.1
43 craniometaphyseal dysplasia, autosomal recessive 10.1
44 xeroderma pigmentosum, variant type 10.1
45 orthostatic intolerance 10.1
46 pulmonary hypertension 10.1
47 brachydactyly 10.1
48 atelosteogenesis 10.1
49 spina bifida occulta 10.1
50 respiratory failure 10.1

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



Diseases related to Frontometaphyseal Dysplasia
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Symptoms & Phenotypes for Frontometaphyseal Dysplasia

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Human phenotypes related to Frontometaphyseal Dysplasia:

59 32 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 prominent supraorbital ridges 59 32 hallmark (90%) Very frequent (99-80%) HP:0000336
3 craniofacial hyperostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004493
4 bowing of the long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0006487
5 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
6 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
7 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
8 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
9 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
10 conductive hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000405
11 reduced number of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0009804
12 abnormality of dental morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0006482
13 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
14 absent/hypoplastic paranasal sinuses 59 32 hallmark (90%) Very frequent (99-80%) HP:0005453
15 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
16 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
17 abnormal form of the vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003312
18 elbow dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0003042
19 synostosis of carpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0005048
20 ulnar deviation of finger 59 32 frequent (33%) Frequent (79-30%) HP:0009465
21 accelerated skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0005616
22 long fingers 59 32 frequent (33%) Frequent (79-30%) HP:0100807
23 fused cervical vertebrae 59 32 frequent (33%) Frequent (79-30%) HP:0002949
24 short distal phalanx of the thumb 59 32 frequent (33%) Frequent (79-30%) HP:0009650
25 hypoplasia of the musculature 59 32 frequent (33%) Frequent (79-30%) HP:0009004
26 irregular metacarpals 59 32 frequent (33%) Frequent (79-30%) HP:0006160
27 posterior vertebral hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0008451
28 short distal phalanx of hallux 59 32 frequent (33%) Frequent (79-30%) HP:0010103
29 long metacarpals 59 32 frequent (33%) Frequent (79-30%) HP:0010493
30 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
31 tracheal stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002777
32 urethral stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008661
33 craniosynostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001363
34 atrioventricular canal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0006695
35 ureteral stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000071
36 subglottic stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001607
37 abnormal diaphysis morphology 59 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Frontometaphyseal Dysplasia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.13 FLNA MAP3K7 TAB2
2 Synthetic lethal with gemcitabine GR00225-A 8.62 MAP3K7 TAB2
Sources

Drugs & Therapeutics for Frontometaphyseal Dysplasia

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Search Clinical Trials , NIH Clinical Center for Frontometaphyseal Dysplasia

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Genetic Tests for Frontometaphyseal Dysplasia

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Genetic tests related to Frontometaphyseal Dysplasia:

# Genetic test Affiliating Genes
1 Frontometaphyseal Dysplasia 29 FLNA
Sources

Anatomical Context for Frontometaphyseal Dysplasia

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MalaCards organs/tissues related to Frontometaphyseal Dysplasia:

41
Bone, Heart, Eye, Lung, Kidney
Sources

Publications for Frontometaphyseal Dysplasia

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Articles related to Frontometaphyseal Dysplasia:

(show top 50) (show all 70)
# Title Authors PMID Year
1
Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. 9 38 71
16596676 2006
2
Otopalatodigital Spectrum Disorders 38 71
20301567 2005
3
A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation. 38 71
15523633 2005
4
CT and MR findings in frontometaphyseal dysplasia. 38 71
9071288 1997
5
Filamin A: phenotypic diversity. 71
15917206 2005
6
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings. 9 38
17431908 2007
7
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. 9 38
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. 9 38
14988809 2004
9
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 9 38
12612583 2003
10
Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7. 38
29660408 2018
11
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. 38
29995760 2018
12
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder. 38
29467388 2018
13
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations. 38
28386937 2018
14
Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With FLNA. 38
29237676 2017
15
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. 38
28498505 2017
16
Skeletal Dysplasia Mutations Effect on Human Filamins' Structure and Mechanosensing. 38
28652603 2017
17
Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin A. 38
28348077 2017
18
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. 38
27426733 2016
19
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. 38
27193221 2016
20
Fetal phenotypes in otopalatodigital spectrum disorders. 38
26404489 2016
21
Association of mutations in FLNA with craniosynostosis. 38
25873011 2015
22
Frontometaphyseal dysplasia and keloid formation without FLNA mutations. 38
25899317 2015
23
Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation. 38
25820619 2015
24
Airway management of a child with frontometaphyseal dysplasia (Gorlin Cohen syndrome). 38
24803775 2014
25
Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report. 38
22233653 2012
26
Structure of filamin A immunoglobulin-like repeat 10 from Homo sapiens. 38
21821884 2011
27
Lung disease associated with periventricular nodular heterotopia and an FLNA mutation. 38
20888935 2011
28
Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome. 38
20186808 2010
29
The Erlenmeyer flask bone deformity in the skeletal dysplasias. 38
19444897 2009
30
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. 38
19203363 2009
31
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. 38
16926860 2007
32
Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders. 38
16538226 2006
33
A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation. 38
15940695 2005
34
A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype. 38
15654694 2005
35
The infant skull: a vault of information. 38
15026597 2004
36
Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families. 38
12503106 2003
37
Frontometaphyseal dysplasia: patient with ruptured aneurysm of the aortic sinus of Valsalva and cerebral aneurysms. 38
11891696 2002
38
[Frontometaphyseal dysplasia]. 38
11462655 2001
39
Otopalatodigital syndrome and frontometaphyseal dysplasia, splitters and lumpers, and paternity of ideas. 38
11074503 2000
40
Foot deformity in frontometaphyseal dysplasia (Gorlin-Cohen syndrome): a case report. 38
10789105 2000
41
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. 38
10706363 2000
42
Frontometaphyseal dysplasia: a case with Arnold-Chiari malformation and bracket epiphysis of the first metacarpal bone. 38
10221024 1999
43
Cranioplasty in frontometaphyseal dysplasia. 38
9734434 1998
44
Radiographic findings in Shprintzen-Goldberg syndrome. 38
8929375 1996
45
Radiological changes of frontometaphyseal dysplasia in the neonate. 38
8577509 1995
46
Frontometaphyseal dysplasia: neonatal radiographic diagnosis. 38
7645585 1995
47
Restrictive chest bellows disease and frontometaphyseal dysplasia. 38
8131478 1993
48
Case report 717. Osteodysplasty (Melnick-Needles syndrome). 38
1566112 1992
49
Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome? 38
1956063 1991
50
The anaesthetic management of an infant with frontometaphyseal dysplasia (Gorlin-Cohen syndrome). 38
3176838 1988
Sources

Variations for Frontometaphyseal Dysplasia

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ClinVar genetic disease variations for Frontometaphyseal Dysplasia:

6 (show top 50) (show all 416)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FLNA NM_001110556.2(FLNA): c.3668C> T (p.Pro1223Leu) single nucleotide variant Pathogenic rs1060500716 X:153588495-153588495 X:154360127-154360127
2 FLNA NM_001110556.2(FLNA): c.5988_5989del (p.Cys1997fs) deletion Pathogenic rs1060500718 X:153581697-153581698 X:154353329-154353330
3 FLNA NM_001110556.2(FLNA): c.4840_4852del (p.Gly1614fs) deletion Pathogenic rs1557177086 X:153585895-153585907 X:154357527-154357539
4 FLNA NM_001110556.2(FLNA): c.999_1008dup (p.Asp337delinsArgGlnTer) duplication Pathogenic rs1557179357 X:153594987-153594996 X:154366619-154366628
5 FLNA NM_001110556.2(FLNA): c.3814del (p.Arg1272fs) deletion Pathogenic rs1557177636 X:153588265-153588265 X:154359897-154359897
6 FLNA NM_001110556.2(FLNA): c.3529G> T (p.Glu1177Ter) single nucleotide variant Pathogenic rs1557177738 X:153588634-153588634 X:154360266-154360266
7 FLNA NM_001110556.2(FLNA): c.3476A> C (p.Asp1159Ala) single nucleotide variant Pathogenic rs28935471 X:153588687-153588687 X:154360319-154360319
8 FLNA NM_001110556.2(FLNA): c.3865G> T (p.Gly1289Ter) single nucleotide variant Pathogenic X:153588214-153588214 X:154359846-154359846
9 FLNA NM_001110556.2(FLNA): c.2565+1G> A single nucleotide variant Pathogenic X:153590785-153590785 X:154362417-154362417
10 FLNA NM_001110556.2(FLNA): c.5643del (p.Asn1881fs) deletion Pathogenic X:153582326-153582326 X:154353958-154353958
11 FLNA NM_001110556.2(FLNA): c.7872_7873del (p.Glu2625fs) deletion Pathogenic X:153577288-153577289 X:154348923-154348924
12 FLNA NM_001110556.2(FLNA): c.5879dup (p.Met1960fs) duplication Pathogenic X:153581807-153581807 X:154353439-154353439
13 FLNA NM_001110556.2(FLNA): c.2452del (p.Ala818fs) deletion Pathogenic X:153590899-153590899 X:154362531-154362531
14 FLNA NM_001110556.2(FLNA): c.3296_3304delinsTCGG (p.Gly1099fs) indel Pathogenic X:153588859-153588867 X:154360491-154360499
15 FLNA NM_001110556.2(FLNA): c.676C> T (p.Arg226Ter) single nucleotide variant Pathogenic/Likely pathogenic X:153596053-153596053 X:154367685-154367685
16 FLNA NM_001110556.2(FLNA): c.3557C> T (p.Ser1186Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137853312 X:153588606-153588606 X:154360238-154360238
17 FLNA NM_001110556.2(FLNA): c.4726G> A (p.Gly1576Arg) single nucleotide variant Pathogenic/Likely pathogenic rs797045044 X:153586596-153586596 X:154358228-154358228
18 FLNA NM_001110556.2(FLNA): c.5686+1G> C single nucleotide variant Likely pathogenic rs1557176315 X:153582282-153582282 X:154353914-154353914
19 FLNA NM_001110556.2(FLNA): c.4143-1G> T single nucleotide variant Likely pathogenic rs1557177485 X:153587775-153587775 X:154359407-154359407
20 FLNA NM_001110556.2(FLNA): c.4596_4598+5del deletion Likely pathogenic rs1557177279 X:153586808-153586815 X:154358440-154358447
21 FLNA NM_001110556.2(FLNA): c.4142+1G> A single nucleotide variant Likely pathogenic X:153587851-153587851 X:154359483-154359483
22 FLNA NM_001110556.2(FLNA): c.2023-4C> G single nucleotide variant Conflicting interpretations of pathogenicity rs368719012 X:153592744-153592744 X:154364376-154364376
23 FLNA NM_001110556.2(FLNA): c.3330G> A (p.Ala1110=) single nucleotide variant Conflicting interpretations of pathogenicity rs781917512 X:153588833-153588833 X:154360465-154360465
24 FLNA NM_001110556.2(FLNA): c.1450C> T (p.Arg484Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61730768 X:153593834-153593834 X:154365466-154365466
25 FLNA NM_001110556.2(FLNA): c.7092C> A (p.Ile2364=) single nucleotide variant Conflicting interpretations of pathogenicity rs782591917 X:153579341-153579341 X:154350973-154350973
26 FLNA NM_001110556.2(FLNA): c.4106C> T (p.Thr1369Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs376774130 X:153587888-153587888 X:154359520-154359520
27 FLNA NM_001110556.2(FLNA): c.7779_7780insTTCGGGG (p.Val2594fs) insertion Conflicting interpretations of pathogenicity rs1557175195 X:153577381-153577382 X:154349013-154349014
28 FLNA NM_001110556.2(FLNA): c.1997C> T (p.Ala666Val) single nucleotide variant Conflicting interpretations of pathogenicity rs374295965 X:153592919-153592919 X:154364551-154364551
29 FLNA NM_001110556.2(FLNA): c.1900C> G (p.Arg634Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs111516546 X:153593016-153593016 X:154364648-154364648
30 FLNA NM_001110556.2(FLNA): c.3036G> A (p.Ser1012=) single nucleotide variant Conflicting interpretations of pathogenicity rs373908435 X:153589847-153589847 X:154361479-154361479
31 FLNA NM_001110556.2(FLNA): c.2389G> A (p.Ala797Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201073998 X:153591044-153591044 X:154362676-154362676
32 FLNA NM_001110556.2(FLNA): c.7389G> A (p.Ser2463=) single nucleotide variant Conflicting interpretations of pathogenicity rs373103712 X:153578180-153578180 X:154349812-154349812
33 FLNA NM_001110556.2(FLNA): c.65A> G (p.Asp22Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs782598729 X:153599549-153599549 X:154371181-154371181
34 FLNA NM_001110556.2(FLNA): c.4475-4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs199652065 X:153586940-153586940 X:154358572-154358572
35 FLNA NM_001110556.2(FLNA): c.586C> T (p.Arg196Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853317 X:153596246-153596246 X:154367878-154367878
36 FLNA NM_001110556.2(FLNA): c.1138G> A (p.Asp380Asn) single nucleotide variant Conflicting interpretations of pathogenicity X:153594766-153594766 X:154366398-154366398
37 FLNA NM_001110556.2(FLNA): c.1429+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs202181557 X:153594384-153594384 X:154366016-154366016
38 FLNA NM_001110556.2(FLNA): c.3379G> A (p.Val1127Met) single nucleotide variant Conflicting interpretations of pathogenicity rs398123617 X:153588784-153588784 X:154360416-154360416
39 FLNA NM_001110556.2(FLNA): c.4263C> T (p.Thr1421=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123618 X:153587654-153587654 X:154359286-154359286
40 FLNA NM_001110556.2(FLNA): c.3147C> T (p.Gly1049=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123615 X:153589736-153589736 X:154361368-154361368
41 FLNA NM_001110556.2(FLNA): c.1691+7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs199565118 X:153593497-153593497 X:154365129-154365129
42 FLNA NM_001110556.2(FLNA): c.1239G> A (p.Thr413=) single nucleotide variant Conflicting interpretations of pathogenicity rs200278701 X:153594582-153594582 X:154366214-154366214
43 FLNA NM_001110556.2(FLNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202029322 X:153593616-153593616 X:154365248-154365248
44 FLNA NM_001110556.2(FLNA): c.3045G> A (p.Ala1015=) single nucleotide variant Conflicting interpretations of pathogenicity rs370868704 X:153589838-153589838 X:154361470-154361470
45 FLNA NM_001110556.2(FLNA): c.2725G> A (p.Val909Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs199911951 X:153590448-153590448 X:154362080-154362080
46 FLNA NM_001110556.2(FLNA): c.2178C> T (p.Asn726=) single nucleotide variant Conflicting interpretations of pathogenicity rs371501734 X:153592492-153592492 X:154364124-154364124
47 FLNA NM_001110556.2(FLNA): c.4451A> G (p.Gln1484Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200130356 X:153587375-153587375 X:154359007-154359007
48 FLNA NM_001110556.2(FLNA): c.4060G> A (p.Asp1354Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs377390031 X:153587934-153587934 X:154359566-154359566
49 FLNA NM_001110556.2(FLNA): c.2023-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs372021340 X:153592746-153592746 X:154364378-154364378
50 FLNA NM_001110556.2(FLNA): c.2613C> T (p.Asp871=) single nucleotide variant Conflicting interpretations of pathogenicity rs188212919 X:153590653-153590653 X:154362285-154362285
Sources

Expression for Frontometaphyseal Dysplasia

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Search GEO for disease gene expression data for Frontometaphyseal Dysplasia.
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Pathways for Frontometaphyseal Dysplasia

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Pathways related to Frontometaphyseal Dysplasia according to KEGG:

37
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010

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

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Cytosolic sensors of pathogen-associated DNA 66
Show member pathways
 12.01 TAB2 MAP3K7
2
RANK Signaling in Osteoclasts 64
Show member pathways
 12 TAB2 MAP3K7
3
CLEC7A (Dectin-1) signaling 66
Show member pathways
 12 TAB2 MAP3K7
4
MAPK signaling pathway 37 1
12 TAB2 MAP3K7 FLNA
5
TCR signaling (REACTOME) 66
Show member pathways
 11.92 TAB2 MAP3K7
6
TNF signaling (REACTOME) 66
Show member pathways
 11.89 TAB2 MAP3K7
7
Toll Comparative Pathway 64
Show member pathways
 11.88 TAB2 MAP3K7
8
IL-17 Family Signaling Pathways 65
Show member pathways
 11.88 TAB2 MAP3K7
9
IL-1 signaling pathway 1
Show member pathways
 11.85 TAB2 MAP3K7
10
G-protein signaling Ras family GTPases in kinase cascades (scheme) 22
Show member pathways
 11.82 TAB2 MAP3K7
11
Diseases associated with the TLR signaling cascade 66
Show member pathways
 11.8 TAB2 MAP3K7
12
Toxoplasmosis 37
Show member pathways
 11.78 TAB2 MAP3K7
13
Wnt / Hedgehog / Notch 4
11.75 TAB2 MAP3K7
14
IL-1 Family Signaling Pathways 65
Show member pathways
 11.72 TAB2 MAP3K7
15
Bacterial infections in CF airways 22
Show member pathways
 11.67 TAB2 MAP3K7
16
Osteoclast differentiation 37
11.54 TAB2 MAP3K7
17
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways 66
Show member pathways
 11.46 TAB2 MAP3K7
18
MAP Kinase Signaling 4
11.42 TAB2 MAP3K7
19
TNF signaling pathway 37
11.37 TAB2 MAP3K7
20
NF-kappa B signaling pathway 37
11.27 TAB2 MAP3K7
21
p38 MAPK signaling pathway (Pathway Interaction Database) 1
10.42 TAB2 MAP3K7
22
Noncanonical Wnt signaling pathway 1
10.28 TAB2 MAP3K7 FLNA
Sources

GO Terms for Frontometaphyseal Dysplasia

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

# Name GO ID Score Top Affiliating Genes
1 endosome membrane GO:0010008 8.62 TAB2 MAP3K7

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.49 TAB2 MAP3K7
2 T cell receptor signaling pathway GO:0050852 9.48 TAB2 MAP3K7
3 Fc-epsilon receptor signaling pathway GO:0038095 9.46 TAB2 MAP3K7
4 activation of MAPK activity GO:0000187 9.43 TAB2 MAP3K7
5 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.4 TAB2 MAP3K7
6 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.37 TAB2 MAP3K7
7 JNK cascade GO:0007254 9.32 TAB2 MAP3K7
8 interleukin-1-mediated signaling pathway GO:0070498 9.26 TAB2 MAP3K7
9 MyD88-dependent toll-like receptor signaling pathway GO:0002755 9.16 TAB2 MAP3K7
10 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 8.96 TAB2 MAP3K7
11 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 8.8 TAB2 MAP3K7 FLNA
Sources

Sources for Frontometaphyseal Dysplasia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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