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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 54 26 60 38 30 13 56 6 74
Dysplasia, Frontometaphyseal 41
Fmd 26

Characteristics:

Orphanet epidemiological data:

60
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: 35
Orphanet: 60  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


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Summaries for Frontometaphyseal Dysplasia

About this section
NIH Rare Diseases : 54 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 MAPK signaling pathway and CLEC7A (Dectin-1) signaling. Affiliated tissues include bone, heart and eye, and related phenotypes are hypertelorism and prominent supraorbital ridges

Genetics Home Reference : 26 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 38)
# Related Disease Score Top Affiliating Genes
1 melnick-needles syndrome 31.8 FLNA LOC105373386
2 periventricular nodular heterotopia 29.6 FLNA LOC105373386
3 frontometaphyseal dysplasia 2 12.7
4 frontometaphyseal dysplasia 1 12.5
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 10.7
11 cohen syndrome 10.3
12 scoliosis 10.2
13 acroosteolysis 10.1
14 craniometaphyseal dysplasia, autosomal dominant 10.1
15 keloid formation 10.1
16 keratitis, hereditary 10.1
17 chiari malformation type ii 10.1
18 pyle disease 10.1
19 orthostatic intolerance 10.1
20 tracheal stenosis 10.1
21 chiari malformation 10.1
22 cerebral aneurysms 10.1
23 chronic lymphoproliferative disorder of natural killer cells 10.1
24 arteries, anomalies of 10.0
25 systemic lupus erythematosus 10.0
26 myoclonic-atonic epilepsy 10.0
27 coronary artery anomaly 10.0
28 follicular lymphoma 10.0
29 lymphoma 10.0
30 mastitis 10.0
31 ischemia 10.0
32 movement disease 10.0
33 lupus erythematosus 10.0
34 keratoconjunctivitis 10.0
35 polymyositis 10.0
36 reversible cerebral vasoconstriction syndrome 10.0
37 cytophagic histiocytic panniculitis 10.0
38 periventricular nodular heterotopia 1 9.6 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:

60 33 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 prominent supraorbital ridges 60 33 hallmark (90%) Very frequent (99-80%) HP:0000336
3 craniofacial hyperostosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0004493
4 bowing of the long bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0006487
5 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
6 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
7 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
8 abnormality of the metaphysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000944
9 downslanted palpebral fissures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000494
10 conductive hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000405
11 reduced number of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0009804
12 abnormality of dental morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0006482
13 camptodactyly of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0100490
14 absent/hypoplastic paranasal sinuses 60 33 hallmark (90%) Very frequent (99-80%) HP:0005453
15 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
16 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
17 abnormal form of the vertebral bodies 60 33 frequent (33%) Frequent (79-30%) HP:0003312
18 elbow dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0003042
19 synostosis of carpal bones 60 33 frequent (33%) Frequent (79-30%) HP:0005048
20 ulnar deviation of finger 60 33 frequent (33%) Frequent (79-30%) HP:0009465
21 accelerated skeletal maturation 60 33 frequent (33%) Frequent (79-30%) HP:0005616
22 long fingers 60 33 frequent (33%) Frequent (79-30%) HP:0100807
23 fused cervical vertebrae 60 33 frequent (33%) Frequent (79-30%) HP:0002949
24 short distal phalanx of the thumb 60 33 frequent (33%) Frequent (79-30%) HP:0009650
25 irregular metacarpals 60 33 frequent (33%) Frequent (79-30%) HP:0006160
26 posterior vertebral hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0008451
27 hypoplasia of the musculature 60 33 frequent (33%) Frequent (79-30%) HP:0009004
28 short distal phalanx of hallux 60 33 frequent (33%) Frequent (79-30%) HP:0010103
29 long metacarpals 60 33 frequent (33%) Frequent (79-30%) HP:0010493
30 tracheal stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002777
31 urethral stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0008661
32 craniosynostosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001363
33 hydronephrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000126
34 atrioventricular canal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0006695
35 ureteral stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000071
36 subglottic stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001607
37 abnormal diaphysis morphology 60 Very frequent (99-80%)

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

27
# 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
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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 30
Sources

Anatomical Context for Frontometaphyseal Dysplasia

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MalaCards organs/tissues related to Frontometaphyseal Dysplasia:

42
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
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Variations for Frontometaphyseal Dysplasia

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ClinVar genetic disease variations for Frontometaphyseal Dysplasia:

6 (show top 50) (show all 671)
# Gene Variation Type Significance SNP ID Assembly Location
1 FLNA NM_001456.3(FLNA): c.7148G> A (p.Arg2383His) single nucleotide variant Uncertain significance rs727503930 GRCh37 Chromosome X, 153578560: 153578560
2 FLNA NM_001456.3(FLNA): c.7148G> A (p.Arg2383His) single nucleotide variant Uncertain significance rs727503930 GRCh38 Chromosome X, 154350192: 154350192
3 FLNA NM_001456.3(FLNA): c.7732+8A> G single nucleotide variant Benign/Likely benign rs201663443 GRCh37 Chromosome X, 153577722: 153577722
4 FLNA NM_001456.3(FLNA): c.7732+8A> G single nucleotide variant Benign/Likely benign rs201663443 GRCh38 Chromosome X, 154349354: 154349354
5 FLNA NM_001456.3(FLNA): c.4179G> A (p.Glu1393=) single nucleotide variant Conflicting interpretations of pathogenicity rs182074603 GRCh37 Chromosome X, 153587738: 153587738
6 FLNA NM_001456.3(FLNA): c.4179G> A (p.Glu1393=) single nucleotide variant Conflicting interpretations of pathogenicity rs182074603 GRCh38 Chromosome X, 154359370: 154359370
7 FLNA NM_001110556.1(FLNA): c.4866C> T (p.Tyr1622=) single nucleotide variant Benign/Likely benign rs200835571 GRCh37 Chromosome X, 153585881: 153585881
8 FLNA NM_001110556.1(FLNA): c.4866C> T (p.Tyr1622=) single nucleotide variant Benign/Likely benign rs200835571 GRCh38 Chromosome X, 154357513: 154357513
9 FLNA NM_001110556.1(FLNA): c.4451A> G (p.Gln1484Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200130356 GRCh37 Chromosome X, 153587375: 153587375
10 FLNA NM_001110556.1(FLNA): c.4451A> G (p.Gln1484Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200130356 GRCh38 Chromosome X, 154359007: 154359007
11 FLNA NM_001110556.1(FLNA): c.4060G> A (p.Asp1354Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs377390031 GRCh37 Chromosome X, 153587934: 153587934
12 FLNA NM_001110556.1(FLNA): c.4060G> A (p.Asp1354Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs377390031 GRCh38 Chromosome X, 154359566: 154359566
13 FLNA NM_001110556.1(FLNA): c.2023-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs372021340 GRCh38 Chromosome X, 154364378: 154364378
14 FLNA NM_001110556.1(FLNA): c.2023-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs372021340 GRCh37 Chromosome X, 153592746: 153592746
15 FLNA NM_001110556.1(FLNA): c.1850C> T (p.Ser617Leu) single nucleotide variant Uncertain significance rs782193139 GRCh38 Chromosome X, 154364698: 154364698
16 FLNA NM_001110556.1(FLNA): c.1850C> T (p.Ser617Leu) single nucleotide variant Uncertain significance rs782193139 GRCh37 Chromosome X, 153593066: 153593066
17 FLNA NM_001456.3(FLNA): c.1582G> A (p.Val528Met) single nucleotide variant Benign/Likely benign rs143873938 GRCh37 Chromosome X, 153593613: 153593613
18 FLNA NM_001456.3(FLNA): c.1582G> A (p.Val528Met) single nucleotide variant Benign/Likely benign rs143873938 GRCh38 Chromosome X, 154365245: 154365245
19 FLNA NM_001456.3(FLNA): c.1875C> T (p.Asp625=) single nucleotide variant Conflicting interpretations of pathogenicity rs200660642 GRCh37 Chromosome X, 153593041: 153593041
20 FLNA NM_001456.3(FLNA): c.1875C> T (p.Asp625=) single nucleotide variant Conflicting interpretations of pathogenicity rs200660642 GRCh38 Chromosome X, 154364673: 154364673
21 FLNA NM_001456.3(FLNA): c.2449C> T (p.Pro817Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200053635 GRCh37 Chromosome X, 153590902: 153590902
22 FLNA NM_001456.3(FLNA): c.2449C> T (p.Pro817Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200053635 GRCh38 Chromosome X, 154362534: 154362534
23 FLNA NM_001456.3(FLNA): c.3285C> T (p.Ala1095=) single nucleotide variant Conflicting interpretations of pathogenicity rs199530601 GRCh37 Chromosome X, 153588878: 153588878
24 FLNA NM_001456.3(FLNA): c.3285C> T (p.Ala1095=) single nucleotide variant Conflicting interpretations of pathogenicity rs199530601 GRCh38 Chromosome X, 154360510: 154360510
25 FLNA NM_001456.3(FLNA): c.3876C> T (p.His1292=) single nucleotide variant Benign/Likely benign rs199917719 GRCh37 Chromosome X, 153588203: 153588203
26 FLNA NM_001456.3(FLNA): c.3876C> T (p.His1292=) single nucleotide variant Benign/Likely benign rs199917719 GRCh38 Chromosome X, 154359835: 154359835
27 FLNA NM_001456.3(FLNA): c.4420G> A (p.Asp1474Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs782129236 GRCh37 Chromosome X, 153587406: 153587406
28 FLNA NM_001456.3(FLNA): c.4420G> A (p.Asp1474Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs782129236 GRCh38 Chromosome X, 154359038: 154359038
29 FLNA NM_001456.3(FLNA): c.4737G> C (p.Leu1579=) single nucleotide variant Benign/Likely benign rs201904661 GRCh37 Chromosome X, 153586585: 153586585
30 FLNA NM_001456.3(FLNA): c.4737G> C (p.Leu1579=) single nucleotide variant Benign/Likely benign rs201904661 GRCh38 Chromosome X, 154358217: 154358217
31 FLNA NM_001456.3(FLNA): c.7198G> A (p.Gly2400Ser) single nucleotide variant Benign/Likely benign rs201168500 GRCh37 Chromosome X, 153578510: 153578510
32 FLNA NM_001456.3(FLNA): c.7198G> A (p.Gly2400Ser) single nucleotide variant Benign/Likely benign rs201168500 GRCh38 Chromosome X, 154350142: 154350142
33 FLNA NM_001456.3(FLNA): c.7482C> T (p.Gly2494=) single nucleotide variant Benign/Likely benign rs200195310 GRCh37 Chromosome X, 153578063: 153578063
34 FLNA NM_001456.3(FLNA): c.7482C> T (p.Gly2494=) single nucleotide variant Benign/Likely benign rs200195310 GRCh38 Chromosome X, 154349695: 154349695
35 FLNA NM_001456.3(FLNA): c.7662C> T (p.Ala2554=) single nucleotide variant Benign rs76337075 GRCh37 Chromosome X, 153577800: 153577800
36 FLNA NM_001456.3(FLNA): c.7662C> T (p.Ala2554=) single nucleotide variant Benign rs76337075 GRCh38 Chromosome X, 154349432: 154349432
37 FLNA NM_001456.3(FLNA): c.732C> T (p.Pro244=) single nucleotide variant Benign/Likely benign rs371092631 GRCh37 Chromosome X, 153595901: 153595901
38 FLNA NM_001456.3(FLNA): c.732C> T (p.Pro244=) single nucleotide variant Benign/Likely benign rs371092631 GRCh38 Chromosome X, 154367533: 154367533
39 FLNA NM_001456.3(FLNA): c.901C> T (p.Arg301Trp) single nucleotide variant Uncertain significance rs192609440 GRCh37 Chromosome X, 153595186: 153595186
40 FLNA NM_001456.3(FLNA): c.901C> T (p.Arg301Trp) single nucleotide variant Uncertain significance rs192609440 GRCh38 Chromosome X, 154366818: 154366818
41 FLNA NM_001456.3(FLNA): c.1029C> T (p.Ser343=) single nucleotide variant Conflicting interpretations of pathogenicity rs199853721 GRCh37 Chromosome X, 153594966: 153594966
42 FLNA NM_001456.3(FLNA): c.1029C> T (p.Ser343=) single nucleotide variant Conflicting interpretations of pathogenicity rs199853721 GRCh38 Chromosome X, 154366598: 154366598
43 FLNA NM_001456.3(FLNA): c.5999-10C> G single nucleotide variant Benign/Likely benign rs72616474 GRCh37 Chromosome X, 153581582: 153581582
44 FLNA NM_001456.3(FLNA): c.5999-10C> G single nucleotide variant Benign/Likely benign rs72616474 GRCh38 Chromosome X, 154353214: 154353214
45 FLNA NM_001456.3(FLNA): c.4517C> T (p.Thr1506Ile) single nucleotide variant Uncertain significance rs797045579 GRCh38 Chromosome X, 154358526: 154358526
46 FLNA NM_001456.3(FLNA): c.4517C> T (p.Thr1506Ile) single nucleotide variant Uncertain significance rs797045579 GRCh37 Chromosome X, 153586894: 153586894
47 FLNA NM_001456.3(FLNA): c.2613C> T (p.Asp871=) single nucleotide variant Conflicting interpretations of pathogenicity rs188212919 GRCh37 Chromosome X, 153590653: 153590653
48 FLNA NM_001456.3(FLNA): c.2613C> T (p.Asp871=) single nucleotide variant Conflicting interpretations of pathogenicity rs188212919 GRCh38 Chromosome X, 154362285: 154362285
49 FLNA NM_001456.3(FLNA): c.1372G> A (p.Val458Ile) single nucleotide variant Uncertain significance rs782791907 GRCh38 Chromosome X, 154366081: 154366081
50 FLNA NM_001456.3(FLNA): c.1372G> A (p.Val458Ile) single nucleotide variant Uncertain significance rs782791907 GRCh37 Chromosome X, 153594449: 153594449
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 KEGG:

38
# 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
CLEC7A (Dectin-1) signaling 67
Show member pathways
 12.01 MAP3K7 TAB2
2
RANK Signaling in Osteoclasts 65
Show member pathways
 12 MAP3K7 TAB2
3
Cytosolic sensors of pathogen-associated DNA 67
Show member pathways
 12 MAP3K7 TAB2
4
MAPK signaling pathway 1 38
12 FLNA MAP3K7 TAB2
5
TCR signaling (REACTOME) 67
Show member pathways
 11.92 MAP3K7 TAB2
6
IL-17 Family Signaling Pathways 66
Show member pathways
 11.89 MAP3K7 TAB2
7
Toll Comparative Pathway 65
Show member pathways
 11.88 MAP3K7 TAB2
8
TNF signaling (REACTOME) 67
Show member pathways
 11.88 MAP3K7 TAB2
9
IL-1 signaling pathway 1
Show member pathways
 11.85 MAP3K7 TAB2
10
G-protein signaling Ras family GTPases in kinase cascades (scheme) 23
Show member pathways
 11.82 MAP3K7 TAB2
11
Diseases associated with the TLR signaling cascade 67
Show member pathways
 11.8 MAP3K7 TAB2
12
Toxoplasmosis 38
Show member pathways
 11.78 MAP3K7 TAB2
13
Wnt / Hedgehog / Notch 4
11.75 MAP3K7 TAB2
14
IL-1 Family Signaling Pathways 66
Show member pathways
 11.72 MAP3K7 TAB2
15
Bacterial infections in CF airways 23
Show member pathways
 11.67 MAP3K7 TAB2
16
Osteoclast differentiation 38
11.54 MAP3K7 TAB2
17
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways 67
Show member pathways
 11.46 MAP3K7 TAB2
18
MAP Kinase Signaling 4
11.42 MAP3K7 TAB2
19
TNF signaling pathway 38
11.36 MAP3K7 TAB2
20
NF-kappa B signaling pathway 38
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 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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