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FMD
MCID: FRN012
MIFTS: 45

Frontometaphyseal Dysplasia (FMD)

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

About this section
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 CLEC7A (Dectin-1) signaling and RANK Signaling in Osteoclasts. Affiliated tissues include bone, heart and eye, and related phenotypes are hypertelorism and high palate

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 30)
# Related Disease Score Top Affiliating Genes
1 melnick-needles syndrome 32.0 FLNA LOC105373386
2 periventricular nodular heterotopia 29.7 FLNA LOC105373386
3 frontometaphyseal dysplasia 2 12.7
4 frontometaphyseal dysplasia 1 12.4
5 fibromuscular dysplasia 12.2
6 otopalatodigital syndrome, type i 11.5
7 otopalatodigital syndrome, type ii 11.4
8 facioscapulohumeral muscular dystrophy 1 11.2
9 coronary artery dissection, spontaneous 11.0
10 mouth disease 10.6
11 cohen syndrome 10.3
12 scoliosis 10.2
13 acroosteolysis 10.0
14 craniometaphyseal dysplasia, autosomal dominant 10.0
15 keloid formation 10.0
16 keratitis, hereditary 10.0
17 pyle disease 10.0
18 orthostatic intolerance 10.0
19 tracheal stenosis 10.0
20 chiari malformation 10.0
21 cerebral aneurysms 10.0
22 arteries, anomalies of 10.0
23 systemic lupus erythematosus 10.0
24 myoclonic-atonic epilepsy 10.0
25 coronary artery anomaly 10.0
26 ischemia 10.0
27 movement disease 10.0
28 lupus erythematosus 10.0
29 reversible cerebral vasoconstriction syndrome 10.0
30 periventricular nodular heterotopia 1 9.8 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 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
3 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
4 prominent supraorbital ridges 59 32 hallmark (90%) Very frequent (99-80%) HP:0000336
5 craniofacial hyperostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004493
6 bowing of the long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0006487
7 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
8 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
9 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
10 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
11 abnormal form of the vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003312
12 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
13 conductive hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000405
14 elbow dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0003042
15 reduced number of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0009804
16 tracheal stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002777
17 abnormality of dental morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0006482
18 urethral stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008661
19 craniosynostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001363
20 synostosis of carpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0005048
21 camptodactyly of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0100490
22 ulnar deviation of finger 59 32 frequent (33%) Frequent (79-30%) HP:0009465
23 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
24 atrioventricular canal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0006695
25 accelerated skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0005616
26 long fingers 59 32 frequent (33%) Frequent (79-30%) HP:0100807
27 fused cervical vertebrae 59 32 frequent (33%) Frequent (79-30%) HP:0002949
28 ureteral stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000071
29 short distal phalanx of the thumb 59 32 frequent (33%) Frequent (79-30%) HP:0009650
30 subglottic stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001607
31 absent/hypoplastic paranasal sinuses 59 32 hallmark (90%) Very frequent (99-80%) HP:0005453
32 irregular metacarpals 59 32 frequent (33%) Frequent (79-30%) HP:0006160
33 posterior vertebral hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0008451
34 hypoplasia of the musculature 59 32 frequent (33%) Frequent (79-30%) HP:0009004
35 short distal phalanx of hallux 59 32 frequent (33%) Frequent (79-30%) HP:0010103
36 long metacarpals 59 32 frequent (33%) Frequent (79-30%) HP:0010493
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
Sources

Publications for Frontometaphyseal Dysplasia

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Articles related to Frontometaphyseal Dysplasia:

(show all 40)
# 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
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. ( 29995760 )
2018
3
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. ( 28498505 )
2017
4
Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin A. ( 28348077 )
2017
5
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. ( 27426733 )
2016
6
Frontometaphyseal dysplasia and keloid formation without FLNA mutations. ( 25899317 )
2015
7
Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation. ( 25820619 )
2015
8
Airway management of a child with frontometaphyseal dysplasia (Gorlin Cohen syndrome). ( 24803775 )
2014
9
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. ( 16926860 )
2007
10
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. ( 16835913 )
2006
11
Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. ( 16596676 )
2006
12
A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation. ( 15523633 )
2005
13
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
14
Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families. ( 12503106 )
2003
15
Frontometaphyseal dysplasia: patient with ruptured aneurysm of the aortic sinus of Valsalva and cerebral aneurysms. ( 11891696 )
2002
16
Otopalatodigital syndrome and frontometaphyseal dysplasia, splitters and lumpers, and paternity of ideas. ( 11074503 )
2000
17
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. ( 10706363 )
2000
18
Foot deformity in frontometaphyseal dysplasia (Gorlin-Cohen syndrome): a case report. ( 10789105 )
2000
19
Frontometaphyseal dysplasia: a case with Arnold-Chiari malformation and bracket epiphysis of the first metacarpal bone. ( 10221024 )
1999
20
Cranioplasty in frontometaphyseal dysplasia. ( 9734434 )
1998
21
CT and MR findings in frontometaphyseal dysplasia. ( 9071288 )
1997
22
Radiological changes of frontometaphyseal dysplasia in the neonate. ( 8577509 )
1995
23
Frontometaphyseal dysplasia: neonatal radiographic diagnosis. ( 7645585 )
1995
24
Restrictive chest bellows disease and frontometaphyseal dysplasia. ( 8131478 )
1993
25
Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome? ( 1956063 )
1991
26
The anaesthetic management of an infant with frontometaphyseal dysplasia (Gorlin-Cohen syndrome). ( 3176838 )
1988
27
Laryngo-tracheal stenosis in frontometaphyseal dysplasia. ( 3343570 )
1988
28
Mitral valve prolapse in a patient with frontometaphyseal dysplasia. ( 3742931 )
1986
29
Frontometaphyseal dysplasia: symptoms and possible mode of inheritance. ( 6593448 )
1984
30
Picture of the month: Frontometaphyseal dysplasia. ( 6613928 )
1983
31
Frontometaphyseal dysplasia: autosomal dominant or X-linked? ( 7189217 )
1980
32
Frontometaphyseal dysplasia--evidence for X-linked inheritance. ( 7395904 )
1980
33
Frontometaphyseal dysplasia with congenital urinary tract malformations. ( 527247 )
1979
34
Frontometaphyseal dysplasia presenting as scoliosis. ( 649644 )
1978
35
Frontometaphyseal dysplasia: evidence for autosomal dominant inheritance. ( 998829 )
1976
36
Frontometaphyseal Dysplasia. Evidence for dominant inheritance. ( 1258835 )
1976
37
Familial frontometaphyseal dysplasia- evidence for dominant inheritance. ( 1218235 )
1975
38
Frontometaphyseal dysplasia: a progressive disease of bone and connective tissue. ( 4282264 )
1974
39
Frontometaphyseal dysplasia. ( 5044403 )
1972
40
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 669)
# 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_001110556.1(FLNA): c.586C> T (p.Arg196Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853317 GRCh37 Chromosome X, 153596246: 153596246
6 FLNA NM_001110556.1(FLNA): c.586C> T (p.Arg196Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853317 GRCh38 Chromosome X, 154367878: 154367878
7 FLNA NM_001110556.1(FLNA): c.1286C> T (p.Thr429Met) single nucleotide variant Benign/Likely benign rs36051194 GRCh37 Chromosome X, 153594535: 153594535
8 FLNA NM_001110556.1(FLNA): c.1286C> T (p.Thr429Met) single nucleotide variant Benign/Likely benign rs36051194 GRCh38 Chromosome X, 154366167: 154366167
9 FLNA NM_001110556.1(FLNA): c.1429+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs202181557 GRCh37 Chromosome X, 153594384: 153594384
10 FLNA NM_001110556.1(FLNA): c.1429+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs202181557 GRCh38 Chromosome X, 154366016: 154366016
11 FLNA NM_001110556.1(FLNA): c.3035C> T (p.Ser1012Leu) single nucleotide variant Benign/Likely benign rs17091204 GRCh37 Chromosome X, 153589848: 153589848
12 FLNA NM_001110556.1(FLNA): c.3035C> T (p.Ser1012Leu) single nucleotide variant Benign/Likely benign rs17091204 GRCh38 Chromosome X, 154361480: 154361480
13 FLNA NM_001456.3(FLNA): c.3147C> T (p.Gly1049=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123615 GRCh37 Chromosome X, 153589736: 153589736
14 FLNA NM_001456.3(FLNA): c.3147C> T (p.Gly1049=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123615 GRCh38 Chromosome X, 154361368: 154361368
15 FLNA NM_001456.3(FLNA): c.3379G> A (p.Val1127Met) single nucleotide variant Conflicting interpretations of pathogenicity rs398123617 GRCh37 Chromosome X, 153588784: 153588784
16 FLNA NM_001456.3(FLNA): c.3379G> A (p.Val1127Met) single nucleotide variant Conflicting interpretations of pathogenicity rs398123617 GRCh38 Chromosome X, 154360416: 154360416
17 FLNA NM_001456.3(FLNA): c.4263C> T (p.Thr1421=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123618 GRCh37 Chromosome X, 153587654: 153587654
18 FLNA NM_001456.3(FLNA): c.4263C> T (p.Thr1421=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123618 GRCh38 Chromosome X, 154359286: 154359286
19 FLNA NM_001110556.1(FLNA): c.4920G> A (p.Gly1640=) single nucleotide variant Benign rs61741041 GRCh37 Chromosome X, 153585827: 153585827
20 FLNA NM_001110556.1(FLNA): c.4920G> A (p.Gly1640=) single nucleotide variant Benign rs61741041 GRCh38 Chromosome X, 154357459: 154357459
21 FLNA NM_001110556.1(FLNA): c.5290G> A (p.Ala1764Thr) single nucleotide variant Benign rs57108893 GRCh37 Chromosome X, 153583007: 153583007
22 FLNA NM_001110556.1(FLNA): c.5290G> A (p.Ala1764Thr) single nucleotide variant Benign rs57108893 GRCh38 Chromosome X, 154354639: 154354639
23 FLNA NM_001456.3(FLNA): c.5948C> T (p.Ser1983Leu) single nucleotide variant Benign/Likely benign rs187029309 GRCh37 Chromosome X, 153581714: 153581714
24 FLNA NM_001456.3(FLNA): c.5948C> T (p.Ser1983Leu) single nucleotide variant Benign/Likely benign rs187029309 GRCh38 Chromosome X, 154353346: 154353346
25 FLNA NM_001456.3(FLNA): c.6618G> C (p.Val2206=) single nucleotide variant Benign rs1064822 GRCh37 Chromosome X, 153580676: 153580676
26 FLNA NM_001456.3(FLNA): c.6618G> C (p.Val2206=) single nucleotide variant Benign rs1064822 GRCh38 Chromosome X, 154352308: 154352308
27 FLNA NM_001110556.1(FLNA): c.663C> T (p.Pro221=) single nucleotide variant Benign rs2073470 GRCh37 Chromosome X, 153596066: 153596066
28 FLNA NM_001110556.1(FLNA): c.663C> T (p.Pro221=) single nucleotide variant Benign rs2073470 GRCh38 Chromosome X, 154367698: 154367698
29 FLNA NM_001110556.1(FLNA): c.6742C> T (p.Leu2248=) single nucleotide variant Benign/Likely benign rs113510895 GRCh37 Chromosome X, 153580576: 153580576
30 FLNA NM_001110556.1(FLNA): c.6742C> T (p.Leu2248=) single nucleotide variant Benign/Likely benign rs113510895 GRCh38 Chromosome X, 154352208: 154352208
31 FLNA NM_001456.3(FLNA): c.869-7C> T single nucleotide variant Benign rs143311779 GRCh37 Chromosome X, 153595225: 153595225
32 FLNA NM_001456.3(FLNA): c.869-7C> T single nucleotide variant Benign rs143311779 GRCh38 Chromosome X, 154366857: 154366857
33 FLNA NM_001456.3(FLNA): c.882A> G (p.Thr294=) single nucleotide variant Benign rs184864998 GRCh37 Chromosome X, 153595205: 153595205
34 FLNA NM_001456.3(FLNA): c.882A> G (p.Thr294=) single nucleotide variant Benign rs184864998 GRCh38 Chromosome X, 154366837: 154366837
35 FLNA NM_001456.3(FLNA): c.1239G> A (p.Thr413=) single nucleotide variant Conflicting interpretations of pathogenicity rs200278701 GRCh37 Chromosome X, 153594582: 153594582
36 FLNA NM_001456.3(FLNA): c.1239G> A (p.Thr413=) single nucleotide variant Conflicting interpretations of pathogenicity rs200278701 GRCh38 Chromosome X, 154366214: 154366214
37 FLNA NM_001456.3(FLNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202029322 GRCh37 Chromosome X, 153593616: 153593616
38 FLNA NM_001456.3(FLNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202029322 GRCh38 Chromosome X, 154365248: 154365248
39 FLNA NM_001456.3(FLNA): c.3045G> A (p.Ala1015=) single nucleotide variant Conflicting interpretations of pathogenicity rs370868704 GRCh37 Chromosome X, 153589838: 153589838
40 FLNA NM_001456.3(FLNA): c.3045G> A (p.Ala1015=) single nucleotide variant Conflicting interpretations of pathogenicity rs370868704 GRCh38 Chromosome X, 154361470: 154361470
41 FLNA NM_001110556.1(FLNA): c.1176G> A (p.Glu392=) single nucleotide variant Benign/Likely benign rs201173693 GRCh37 Chromosome X, 153594728: 153594728
42 FLNA NM_001110556.1(FLNA): c.1176G> A (p.Glu392=) single nucleotide variant Benign/Likely benign rs201173693 GRCh38 Chromosome X, 154366360: 154366360
43 FLNA NM_001456.3(FLNA): c.1691+7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs199565118 GRCh37 Chromosome X, 153593497: 153593497
44 FLNA NM_001456.3(FLNA): c.1691+7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs199565118 GRCh38 Chromosome X, 154365129: 154365129
45 FLNA NM_001456.3(FLNA): c.1968C> T (p.Leu656=) single nucleotide variant Benign rs73638274 GRCh37 Chromosome X, 153592948: 153592948
46 FLNA NM_001456.3(FLNA): c.1968C> T (p.Leu656=) single nucleotide variant Benign rs73638274 GRCh38 Chromosome X, 154364580: 154364580
47 FLNA NM_001456.3(FLNA): c.2178C> T (p.Asn726=) single nucleotide variant Conflicting interpretations of pathogenicity rs371501734 GRCh37 Chromosome X, 153592492: 153592492
48 FLNA NM_001456.3(FLNA): c.2178C> T (p.Asn726=) single nucleotide variant Conflicting interpretations of pathogenicity rs371501734 GRCh38 Chromosome X, 154364124: 154364124
49 FLNA NM_001456.3(FLNA): c.2433C> T (p.Ala811=) single nucleotide variant Benign/Likely benign rs35986650 GRCh37 Chromosome X, 153590918: 153590918
50 FLNA NM_001456.3(FLNA): c.2433C> T (p.Ala811=) single nucleotide variant Benign/Likely benign rs35986650 GRCh38 Chromosome X, 154362550: 154362550
Sources

Expression for Frontometaphyseal Dysplasia

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

Pathways for Frontometaphyseal Dysplasia

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

(show all 23)
# Super pathways Score Top Affiliating Genes
1
CLEC7A (Dectin-1) signaling 66
Show member pathways
 12.02 MAP3K7 TAB2
2
RANK Signaling in Osteoclasts 64
Show member pathways
 12.01 MAP3K7 TAB2
3
Cytosolic sensors of pathogen-associated DNA 66
Show member pathways
 12.01 MAP3K7 TAB2
4
MAPK signaling pathway 37 1
12 FLNA MAP3K7 TAB2
5
TCR signaling (REACTOME) 66
Show member pathways
 11.93 MAP3K7 TAB2
6
IL-17 Family Signaling Pathways 65
Show member pathways
 11.9 MAP3K7 TAB2
7
Toll Comparative Pathway 64
Show member pathways
 11.89 MAP3K7 TAB2
8
TNF signaling (REACTOME) 1
Show member pathways
 11.89 MAP3K7 TAB2
9
IL-1 signaling pathway 1
Show member pathways
 11.86 MAP3K7 TAB2
10
Epstein-Barr virus infection 37
11.84 MAP3K7 TAB2
11
G-protein signaling Ras family GTPases in kinase cascades (scheme) 22
Show member pathways
 11.83 MAP3K7 TAB2
12
Diseases associated with the TLR signaling cascade 66
Show member pathways
 11.8 MAP3K7 TAB2
13
Toxoplasmosis 37
Show member pathways
 11.78 MAP3K7 TAB2
14
Wnt / Hedgehog / Notch 4
11.75 MAP3K7 TAB2
15
IL-1 Family Signaling Pathways 65
Show member pathways
 11.72 MAP3K7 TAB2
16
Bacterial infections in CF airways 22
Show member pathways
 11.67 MAP3K7 TAB2
17
Osteoclast differentiation 37
11.54 MAP3K7 TAB2
18
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways 66
Show member pathways
 11.46 MAP3K7 TAB2
19
MAP Kinase Signaling 4
11.42 MAP3K7 TAB2
20
TNF signaling pathway 37
11.36 MAP3K7 TAB2
21
NF-kappa B signaling pathway 37
11.23 MAP3K7 TAB2
22
p38 MAPK signaling pathway (Pathway Interaction Database) 1
10.42 MAP3K7 TAB2
23
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 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.49 MAP3K7 TAB2
2 T cell receptor signaling pathway GO:0050852 9.48 MAP3K7 TAB2
3 Fc-epsilon receptor signaling pathway GO:0038095 9.46 MAP3K7 TAB2
4 activation of MAPK activity GO:0000187 9.43 MAP3K7 TAB2
5 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.4 MAP3K7 TAB2
6 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.37 MAP3K7 TAB2
7 JNK cascade GO:0007254 9.32 MAP3K7 TAB2
8 interleukin-1-mediated signaling pathway GO:0070498 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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