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MIFTS: 44

Frontometaphyseal Dysplasia

Categories: Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases, Genetic 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 29 13 55 6 73
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
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


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Summaries for Frontometaphyseal Dysplasia

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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.

MalaCards based summary : Frontometaphyseal Dysplasia, also known as dysplasia, frontometaphyseal, is related to melnick-needles syndrome and periventricular nodular heterotopia. An important gene associated with Frontometaphyseal Dysplasia is FLNA (Filamin A), and among its related pathways/superpathways are TRAF Pathway and CLEC7A (Dectin-1) signaling. Affiliated tissues include bone, heart and eye, and related phenotypes are ureteral stenosis and hydronephrosis

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).

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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 all 21)
# Related Disease Score Top Affiliating Genes
1 melnick-needles syndrome 31.1 FLNA LOC105373386
2 periventricular nodular heterotopia 28.3 FLNA LOC105373386
3 frontometaphyseal dysplasia 2 12.5
4 frontometaphyseal dysplasia 1 12.3
5 fibromuscular dysplasia 12.0
6 otopalatodigital syndrome, type i 11.3
7 otopalatodigital syndrome, type ii 11.3
8 cohen syndrome 10.1
9 craniometaphyseal dysplasia, autosomal dominant 9.9
10 keloid formation 9.9
11 chiari malformation type ii 9.9
12 pyle disease 9.9
13 orthostatic intolerance 9.9
14 keloids 9.9
15 scoliosis 9.9
16 tracheal stenosis 9.9
17 cerebritis 9.9
18 chiari malformation 9.9
19 aneurysm 9.9
20 cerebral aneurysms 9.9
21 periventricular nodular heterotopia 1 9.3 FLNA LOC105373386

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

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MalaCards organs/tissues related to Frontometaphyseal Dysplasia:

41
Bone, Heart, Eye
Sources

Publications for Frontometaphyseal Dysplasia

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Articles related to Frontometaphyseal Dysplasia:

(show all 38)
# Title Authors Year
1
Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7. ( 29660408 )
2018
2
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. ( 28498505 )
2017
3
Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin A. ( 28348077 )
2017
4
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. ( 27426733 )
2016
5
Frontometaphyseal dysplasia and keloid formation without FLNA mutations. ( 25899317 )
2015
6
Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation. ( 25820619 )
2015
7
Airway management of a child with frontometaphyseal dysplasia (Gorlin Cohen syndrome). ( 24803775 )
2014
8
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. ( 16926860 )
2007
9
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. ( 16835913 )
2006
10
Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. ( 16596676 )
2006
11
A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation. ( 15523633 )
2005
12
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. ( 14988809 )
2004
13
Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families. ( 12503106 )
2003
14
Frontometaphyseal dysplasia: patient with ruptured aneurysm of the aortic sinus of Valsalva and cerebral aneurysms. ( 11891696 )
2002
15
Otopalatodigital syndrome and frontometaphyseal dysplasia, splitters and lumpers, and paternity of ideas. ( 11074503 )
2000
16
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. ( 10706363 )
2000
17
Foot deformity in frontometaphyseal dysplasia (Gorlin-Cohen syndrome): a case report. ( 10789105 )
2000
18
Frontometaphyseal dysplasia: a case with Arnold-Chiari malformation and bracket epiphysis of the first metacarpal bone. ( 10221024 )
1999
19
Cranioplasty in frontometaphyseal dysplasia. ( 9734434 )
1998
20
CT and MR findings in frontometaphyseal dysplasia. ( 9071288 )
1997
21
Radiological changes of frontometaphyseal dysplasia in the neonate. ( 8577509 )
1995
22
Frontometaphyseal dysplasia: neonatal radiographic diagnosis. ( 7645585 )
1995
23
Restrictive chest bellows disease and frontometaphyseal dysplasia. ( 8131478 )
1993
24
Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome? ( 1956063 )
1991
25
The anaesthetic management of an infant with frontometaphyseal dysplasia (Gorlin-Cohen syndrome). ( 3176838 )
1988
26
Laryngo-tracheal stenosis in frontometaphyseal dysplasia. ( 3343570 )
1988
27
Mitral valve prolapse in a patient with frontometaphyseal dysplasia. ( 3742931 )
1986
28
Frontometaphyseal dysplasia: symptoms and possible mode of inheritance. ( 6593448 )
1984
29
Picture of the month: Frontometaphyseal dysplasia. ( 6613928 )
1983
30
Frontometaphyseal dysplasia: autosomal dominant or X-linked? ( 7189217 )
1980
31
Frontometaphyseal dysplasia--evidence for X-linked inheritance. ( 7395904 )
1980
32
Frontometaphyseal dysplasia with congenital urinary tract malformations. ( 527247 )
1979
33
Frontometaphyseal dysplasia: evidence for autosomal dominant inheritance. ( 998829 )
1976
34
Frontometaphyseal Dysplasia. Evidence for dominant inheritance. ( 1258835 )
1976
35
Familial frontometaphyseal dysplasia- evidence for dominant inheritance. ( 1218235 )
1975
36
Frontometaphyseal dysplasia: a progressive disease of bone and connective tissue. ( 4282264 )
1974
37
Frontometaphyseal dysplasia. ( 5044403 )
1972
38
Frontometaphyseal dysplasia. A new syndrome. ( 5807657 )
1969
Sources

Variations for Frontometaphyseal Dysplasia

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ClinVar genetic disease variations for Frontometaphyseal Dysplasia:

6
(show top 50) (show all 493)
# Gene Variation Type Significance SNP ID Assembly Location
1 FLNA NM_001110556.1(FLNA): c.3476A> C (p.Asp1159Ala) single nucleotide variant Pathogenic rs28935471 GRCh37 Chromosome X, 153588687: 153588687
2 FLNA NM_001110556.1(FLNA): c.3476A> C (p.Asp1159Ala) single nucleotide variant Pathogenic rs28935471 GRCh38 Chromosome X, 154360319: 154360319
3 FLNA NM_001110556.1(FLNA): c.3557C> T (p.Ser1186Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137853312 GRCh37 Chromosome X, 153588606: 153588606
4 FLNA NM_001110556.1(FLNA): c.3557C> T (p.Ser1186Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137853312 GRCh38 Chromosome X, 154360238: 154360238
5 FLNA NM_001456.3(FLNA): c.7148G> A (p.Arg2383His) single nucleotide variant Uncertain significance rs727503930 GRCh37 Chromosome X, 153578560: 153578560
6 FLNA NM_001456.3(FLNA): c.7148G> A (p.Arg2383His) single nucleotide variant Uncertain significance rs727503930 GRCh38 Chromosome X, 154350192: 154350192
7 FLNA NM_001456.3(FLNA): c.7732+8A> G single nucleotide variant Benign/Likely benign rs201663443 GRCh37 Chromosome X, 153577722: 153577722
8 FLNA NM_001456.3(FLNA): c.7732+8A> G single nucleotide variant Benign/Likely benign rs201663443 GRCh38 Chromosome X, 154349354: 154349354
9 FLNA NM_001456.3(FLNA): c.4179G> A (p.Glu1393=) single nucleotide variant Conflicting interpretations of pathogenicity rs182074603 GRCh37 Chromosome X, 153587738: 153587738
10 FLNA NM_001456.3(FLNA): c.4179G> A (p.Glu1393=) single nucleotide variant Conflicting interpretations of pathogenicity rs182074603 GRCh38 Chromosome X, 154359370: 154359370
11 FLNA NM_001110556.1(FLNA): c.4866C> T (p.Tyr1622=) single nucleotide variant Benign/Likely benign rs200835571 GRCh37 Chromosome X, 153585881: 153585881
12 FLNA NM_001110556.1(FLNA): c.4866C> T (p.Tyr1622=) single nucleotide variant Benign/Likely benign rs200835571 GRCh38 Chromosome X, 154357513: 154357513
13 FLNA NM_001110556.1(FLNA): c.4451A> G (p.Gln1484Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200130356 GRCh37 Chromosome X, 153587375: 153587375
14 FLNA NM_001110556.1(FLNA): c.4451A> G (p.Gln1484Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200130356 GRCh38 Chromosome X, 154359007: 154359007
15 FLNA NM_001110556.1(FLNA): c.4060G> A (p.Asp1354Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs377390031 GRCh37 Chromosome X, 153587934: 153587934
16 FLNA NM_001110556.1(FLNA): c.4060G> A (p.Asp1354Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs377390031 GRCh38 Chromosome X, 154359566: 154359566
17 FLNA NM_001110556.1(FLNA): c.2023-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs372021340 GRCh38 Chromosome X, 154364378: 154364378
18 FLNA NM_001110556.1(FLNA): c.2023-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs372021340 GRCh37 Chromosome X, 153592746: 153592746
19 FLNA NM_001456.3(FLNA): c.1582G> A (p.Val528Met) single nucleotide variant Benign/Likely benign rs143873938 GRCh37 Chromosome X, 153593613: 153593613
20 FLNA NM_001456.3(FLNA): c.1582G> A (p.Val528Met) single nucleotide variant Benign/Likely benign rs143873938 GRCh38 Chromosome X, 154365245: 154365245
21 FLNA NM_001456.3(FLNA): c.1875C> T (p.Asp625=) single nucleotide variant Conflicting interpretations of pathogenicity rs200660642 GRCh37 Chromosome X, 153593041: 153593041
22 FLNA NM_001456.3(FLNA): c.1875C> T (p.Asp625=) single nucleotide variant Conflicting interpretations of pathogenicity rs200660642 GRCh38 Chromosome X, 154364673: 154364673
23 FLNA NM_001456.3(FLNA): c.2449C> T (p.Pro817Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200053635 GRCh37 Chromosome X, 153590902: 153590902
24 FLNA NM_001456.3(FLNA): c.2449C> T (p.Pro817Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200053635 GRCh38 Chromosome X, 154362534: 154362534
25 FLNA NM_001456.3(FLNA): c.3285C> T (p.Ala1095=) single nucleotide variant Conflicting interpretations of pathogenicity rs199530601 GRCh37 Chromosome X, 153588878: 153588878
26 FLNA NM_001456.3(FLNA): c.3285C> T (p.Ala1095=) single nucleotide variant Conflicting interpretations of pathogenicity rs199530601 GRCh38 Chromosome X, 154360510: 154360510
27 FLNA NM_001456.3(FLNA): c.3876C> T (p.His1292=) single nucleotide variant Benign/Likely benign rs199917719 GRCh37 Chromosome X, 153588203: 153588203
28 FLNA NM_001456.3(FLNA): c.3876C> T (p.His1292=) single nucleotide variant Benign/Likely benign rs199917719 GRCh38 Chromosome X, 154359835: 154359835
29 FLNA NM_001456.3(FLNA): c.4420G> A (p.Asp1474Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs782129236 GRCh37 Chromosome X, 153587406: 153587406
30 FLNA NM_001456.3(FLNA): c.4420G> A (p.Asp1474Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs782129236 GRCh38 Chromosome X, 154359038: 154359038
31 FLNA NM_001456.3(FLNA): c.4737G> C (p.Leu1579=) single nucleotide variant Benign/Likely benign rs201904661 GRCh37 Chromosome X, 153586585: 153586585
32 FLNA NM_001456.3(FLNA): c.4737G> C (p.Leu1579=) single nucleotide variant Benign/Likely benign rs201904661 GRCh38 Chromosome X, 154358217: 154358217
33 FLNA NM_001456.3(FLNA): c.7198G> A (p.Gly2400Ser) single nucleotide variant Benign/Likely benign rs201168500 GRCh37 Chromosome X, 153578510: 153578510
34 FLNA NM_001456.3(FLNA): c.7198G> A (p.Gly2400Ser) single nucleotide variant Benign/Likely benign rs201168500 GRCh38 Chromosome X, 154350142: 154350142
35 FLNA NM_001456.3(FLNA): c.7482C> T (p.Gly2494=) single nucleotide variant Benign/Likely benign rs200195310 GRCh37 Chromosome X, 153578063: 153578063
36 FLNA NM_001456.3(FLNA): c.7482C> T (p.Gly2494=) single nucleotide variant Benign/Likely benign rs200195310 GRCh38 Chromosome X, 154349695: 154349695
37 FLNA NM_001456.3(FLNA): c.7662C> T (p.Ala2554=) single nucleotide variant Benign rs76337075 GRCh37 Chromosome X, 153577800: 153577800
38 FLNA NM_001456.3(FLNA): c.7662C> T (p.Ala2554=) single nucleotide variant Benign rs76337075 GRCh38 Chromosome X, 154349432: 154349432
39 FLNA NM_001456.3(FLNA): c.732C> T (p.Pro244=) single nucleotide variant Benign/Likely benign rs371092631 GRCh37 Chromosome X, 153595901: 153595901
40 FLNA NM_001456.3(FLNA): c.732C> T (p.Pro244=) single nucleotide variant Benign/Likely benign rs371092631 GRCh38 Chromosome X, 154367533: 154367533
41 FLNA NM_001456.3(FLNA): c.901C> T (p.Arg301Trp) single nucleotide variant Uncertain significance rs192609440 GRCh37 Chromosome X, 153595186: 153595186
42 FLNA NM_001456.3(FLNA): c.901C> T (p.Arg301Trp) single nucleotide variant Uncertain significance rs192609440 GRCh38 Chromosome X, 154366818: 154366818
43 FLNA NM_001456.3(FLNA): c.1029C> T (p.Ser343=) single nucleotide variant Conflicting interpretations of pathogenicity rs199853721 GRCh37 Chromosome X, 153594966: 153594966
44 FLNA NM_001456.3(FLNA): c.1029C> T (p.Ser343=) single nucleotide variant Conflicting interpretations of pathogenicity rs199853721 GRCh38 Chromosome X, 154366598: 154366598
45 FLNA NM_001456.3(FLNA): c.5999-10C> G single nucleotide variant Benign/Likely benign rs72616474 GRCh37 Chromosome X, 153581582: 153581582
46 FLNA NM_001456.3(FLNA): c.5999-10C> G single nucleotide variant Benign/Likely benign rs72616474 GRCh38 Chromosome X, 154353214: 154353214
47 FLNA NM_001456.3(FLNA): c.4517C> T (p.Thr1506Ile) single nucleotide variant Uncertain significance rs797045579 GRCh38 Chromosome X, 154358526: 154358526
48 FLNA NM_001456.3(FLNA): c.4517C> T (p.Thr1506Ile) single nucleotide variant Uncertain significance rs797045579 GRCh37 Chromosome X, 153586894: 153586894
49 FLNA NM_001456.3(FLNA): c.2613C> T (p.Asp871=) single nucleotide variant Conflicting interpretations of pathogenicity rs188212919 GRCh37 Chromosome X, 153590653: 153590653
50 FLNA NM_001456.3(FLNA): c.2613C> T (p.Asp871=) single nucleotide variant Conflicting interpretations of pathogenicity rs188212919 GRCh38 Chromosome 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 GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
TRAF Pathway 64
Show member pathways
 12.03 MAP3K7 TAB2
2
CLEC7A (Dectin-1) signaling 66
Show member pathways
 12.02 MAP3K7 TAB2
3
Cytosolic sensors of pathogen-associated DNA 66
Show member pathways
 12.01 MAP3K7 TAB2
4
MAPK signaling pathway 1 37
12 FLNA MAP3K7 TAB2
5
TCR signaling (REACTOME) 66
Show member pathways
 11.94 MAP3K7 TAB2
6
IL-17 Family Signaling Pathways 65
Show member pathways
 11.92 MAP3K7 TAB2
7
TNF signaling (REACTOME) 66
Show member pathways
 11.91 MAP3K7 TAB2
8
IL-1 signaling pathway 1
Show member pathways
 11.88 MAP3K7 TAB2
9
Epstein-Barr virus infection 37
11.86 MAP3K7 TAB2
10
Diseases associated with the TLR signaling cascade 66
Show member pathways
 11.83 MAP3K7 TAB2
11
Toxoplasmosis 37
Show member pathways
 11.81 MAP3K7 TAB2
12
Wnt / Hedgehog / Notch 4
11.78 MAP3K7 TAB2
13
Toll Comparative Pathway 64
Show member pathways
 11.77 MAP3K7 TAB2
14
IL-1 Family Signaling Pathways 65
Show member pathways
 11.76 MAP3K7 TAB2
15
Bacterial infections in CF airways 22
Show member pathways
 11.67 MAP3K7 TAB2
16
Osteoclast differentiation 37
11.54 MAP3K7 TAB2
17
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways 66
Show member pathways
 11.46 MAP3K7 TAB2
18
MAP Kinase Signaling 4
11.42 MAP3K7 TAB2
19
TNF signaling pathway 37
11.36 MAP3K7 TAB2
20
NF-kappa B signaling pathway 37
11.23 MAP3K7 TAB2
21
p38 MAPK signaling pathway (Pathway Interaction Database) 1
10.42 MAP3K7 TAB2
22
Noncanonical Wnt signaling pathway 1
10.28 FLNA MAP3K7 TAB2
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 MAP3K7 TAB2

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

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

Sources for Frontometaphyseal Dysplasia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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