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FMD
MCID: FRN012
MIFTS: 51

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 12 20 43 58 36 29 54 6 44 15 70
Fmd 12 43
Dysplasia, Frontometaphyseal 39

Characteristics:

Orphanet epidemiological data:

58
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: 33
Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


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Summaries for Frontometaphyseal Dysplasia

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MedlinePlus Genetics : 43 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, Melnick-Needles syndrome, and terminal osseous dysplasia. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits).Frontometaphyseal dysplasia is distinguished from the other otopalatodigital spectrum disorders by the presence of joint deformities called contractures that restrict the movement of certain joints. People with frontometaphyseal dysplasia may also have bowed limbs, an abnormal curvature of the spine (scoliosis), and abnormalities of the fingers and hands.Characteristic facial features may include prominent brow ridges; wide-set and downward-slanting eyes; a very small lower jaw and chin (micrognathia); and small, missing or misaligned teeth. Some affected individuals have hearing loss.In addition to skeletal abnormalities, individuals with frontometaphyseal dysplasia may have obstruction of the ducts between the kidneys and bladder (ureters), heart defects, or constrictions in the passages leading from the windpipe to the lungs (the bronchi) that can cause problems with breathing.Males with frontometaphyseal dysplasia generally have more severe signs and symptoms of the disorder than do females, who may show only the characteristic facial features.

MalaCards based summary : Frontometaphyseal Dysplasia, also known as fmd, is related to frontometaphyseal dysplasia 1 and otopalatodigital syndrome, type i. An important gene associated with Frontometaphyseal Dysplasia is FLNA (Filamin A), and among its related pathways/superpathways are MAPK signaling pathway and Salmonella infection (KEGG). Affiliated tissues include heart, spinal cord and skin, and related phenotypes are scoliosis and skeletal dysplasia

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

GARD : 20 Frontometaphyseal dysplasia (FMD) is a genetic disorder characterized by abnormalities in skeletal development and problems in other organs of the body. It is part of a group of diseases called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and Melnick-Needles syndrome. In general, these disorders involve hearing loss (due to malformations in the tiny bones in the ears ( ossicles )), cleft roof of the mouth (palate), and defects of the bones in the fingers and/or toes (digits). Frontometaphyseal dysplasia is distinguished from the other diseases of the group by the presence of joint deformities ( contractures ) that restrict the movement of certain joints. Other symptoms may include prominent brow ridges; wide-set and downward-slanting eyes; a very small lower jaw and chin ( micrognathia ); small, missing or misaligned teeth; bowed limbs; an abnormal curvature of the spine ( scoliosis ); obstruction of ureters; heart defects; and breathing problems. Males generally have more severe features than females. FMD is caused by mutations in the FLNA gene. Inheritance is X-linked. There is also a form of FMD caused by mutations in the gene MAP3K7 with is known as frontometaphyseal dysplasia 2 and it is is inherited in an autosomal dominant manner. Treatment depends on the problems present and may include hearing aid and surgery to correct the facial findings and the bone defects.

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

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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 104)
# Related Disease Score Top Affiliating Genes
1 frontometaphyseal dysplasia 1 32.9 LOC107988032 FLNA
2 otopalatodigital syndrome, type i 32.7 FLNB FLNA
3 otopalatodigital syndrome, type ii 32.3 LOC107988032 FLNC FLNB FLNA
4 melnick-needles syndrome 32.2 LOC107988032 FLNC FLNB FLNA
5 terminal osseous dysplasia 32.0 LOC107988032 FLNA
6 periventricular nodular heterotopia 1 30.9 LOC107988032 FLNA
7 flna-related periventricular nodular heterotopia 30.8 LOC107988032 FLNA
8 skeletal dysplasias 30.6 PAPSS2 FLNB FLNA
9 boomerang dysplasia 30.3 FLNC FLNB FLNA
10 periventricular nodular heterotopia 30.2 LOC107988032 FLNC FLNB FLNA
11 atelosteogenesis 30.1 PAPSS2 MAP3K7 FLNC FLNB FLNA
12 otopalatodigital syndrome spectrum disorder 30.0 NR3C2 MTR MAP3K7 FLNC FLNB FLNA
13 frontometaphyseal dysplasia 2 11.8
14 fibromuscular dysplasia 11.6
15 facioscapulohumeral muscular dystrophy 1 11.1
16 mouth disease 10.9
17 coronary artery dissection, spontaneous 10.9
18 x-linked otopalatodigital spectrum disorders 10.5
19 hyperostosis 10.4
20 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 10.4 LOC107988032 FLNA
21 scoliosis 10.3
22 fg syndrome 2 10.3 LOC107988032 FLNA
23 cardiospondylocarpofacial syndrome 10.3 MAP3K7 FLNB
24 larsen syndrome 10.3 FLNC FLNB FLNA
25 cohen syndrome 10.3
26 keloid disorder 10.3
27 myopathy, myofibrillar, 5 10.2 FLNC FLNB FLNA
28 ear malformation 10.2 MAP3K7 FLNB
29 blood group, i system 10.2
30 cleft palate, isolated 10.2
31 alacrima, achalasia, and mental retardation syndrome 10.2
32 oto-palatal-digital syndrome 10.2
33 nodular neuronal heterotopia 10.2
34 myofibrillar myopathy 10.2 FLNC FLNB FLNA
35 achondrogenesis, type ib 10.2 PAPSS2 PAPSS1
36 odontochondrodysplasia 10.1
37 branchiootic syndrome 1 10.1
38 metaphyseal dysplasia 10.1
39 tracheal stenosis 10.1
40 arteries, anomalies of 10.1
41 lipoprotein quantitative trait locus 10.1
42 cardiac valvular dysplasia, x-linked 10.1 LOC107988032 FLNA
43 follicular lymphoma 10.0
44 vascular disease 10.0
45 ischemia 10.0
46 heart valve disease 10.0
47 anthrax disease 10.0
48 47,xyy 10.0
49 cytokine deficiency 10.0
50 acroosteolysis 9.9

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:

58 31 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 prominent supraorbital ridges 58 31 hallmark (90%) Very frequent (99-80%) HP:0000336
5 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
6 broad thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0011304
7 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
8 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
9 long fingers 58 31 hallmark (90%) Very frequent (99-80%) HP:0100807
10 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
11 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
12 elbow flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0002987
13 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
14 urethral stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0008661
15 keloids 58 31 frequent (33%) Frequent (79-30%) HP:0010562
16 wrist flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0001239
17 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
18 short metacarpal 58 31 frequent (33%) Frequent (79-30%) HP:0010049
19 abnormal heart morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001627
20 fused cervical vertebrae 58 31 frequent (33%) Frequent (79-30%) HP:0002949
21 dislocated radial head 58 31 frequent (33%) Frequent (79-30%) HP:0003083
22 subglottic stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0001607
23 limited wrist movement 58 31 frequent (33%) Frequent (79-30%) HP:0006248
24 short metatarsal 58 31 frequent (33%) Frequent (79-30%) HP:0010743
25 short distal phalanx of the thumb 58 31 frequent (33%) Frequent (79-30%) HP:0009650
26 metacarpophalangeal joint contracture 58 31 frequent (33%) Frequent (79-30%) HP:0006070
27 metaphyseal widening 58 31 frequent (33%) Frequent (79-30%) HP:0003016
28 ureteral obstruction 58 31 frequent (33%) Frequent (79-30%) HP:0006000
29 pes valgus 58 31 frequent (33%) Frequent (79-30%) HP:0008081
30 sclerosis of skull base 58 31 frequent (33%) Frequent (79-30%) HP:0002694
31 limitation of movement at ankles 58 31 frequent (33%) Frequent (79-30%) HP:0010505
32 limitation of knee mobility 58 31 frequent (33%) Frequent (79-30%) HP:0010501
33 ulnar deviation of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0009487
34 short diaphyses 58 31 frequent (33%) Frequent (79-30%) HP:0000941
35 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
36 growth delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001510
37 sprengel anomaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000912
38 amblyopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000646
39 arnold-chiari malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002308
40 spina bifida occulta 58 31 occasional (7.5%) Occasional (29-5%) HP:0003298
41 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
42 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
43 bifid uvula 58 31 occasional (7.5%) Occasional (29-5%) HP:0000193
44 astigmatism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000483
45 single transverse palmar crease 58 31 occasional (7.5%) Occasional (29-5%) HP:0000954
46 mixed hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000410
47 oligodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000677
48 shoulder muscle hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008952
49 hypotrophy of the small hand muscles 58 31 occasional (7.5%) Occasional (29-5%) HP:0006006
50 progressive bowing of long bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0006383

MGI Mouse Phenotypes related to Frontometaphyseal Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.44 ACD ATP5IF1 FLNA FLNB FLNC GPR180
Sources

Drugs & Therapeutics for Frontometaphyseal Dysplasia

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Search Clinical Trials , NIH Clinical Center for Frontometaphyseal Dysplasia

Cochrane evidence based reviews: 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
Sources

Anatomical Context for Frontometaphyseal Dysplasia

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MalaCards organs/tissues related to Frontometaphyseal Dysplasia:

40
Heart, Spinal Cord, Skin
Sources

Publications for Frontometaphyseal Dysplasia

About this section

Articles related to Frontometaphyseal Dysplasia:

(show top 50) (show all 90)
# Title Authors PMID Year
1
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. 61 6 54
16835913 2006
2
Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. 6 54 61
16596676 2006
3
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 54 61 6
12612583 2003
4
A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation. 6 61
15523633 2005
5
CT and MR findings in frontometaphyseal dysplasia. 6 61
9071288 1997
6
Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings. 6
30561107 2019
7
Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αIIbβ3 Activation. 6
28428218 2017
8
Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R. 6
26686323 2016
9
A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation. 6
26804200 2016
10
Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects. 6
26059211 2015
11
47 patients with FLNA associated periventricular nodular heterotopia. 6
26471271 2015
12
Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA. 6
25686753 2015
13
Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation. 6
25614868 2014
14
Novel no-stop FLNA mutation causes multi-organ involvement in males. 6
23873601 2013
15
Combined cardiological and neurological abnormalities due to filamin A gene mutation. 6
20730588 2011
16
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. 6
20598277 2010
17
A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation. 6
17264970 2007
18
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 6
16684786 2006
19
Periventricular heterotopia: new insights into Ehlers-Danlos syndrome. 6
16303888 2005
20
Filamin A: phenotypic diversity. 6
15917206 2005
21
Molecular pathology of filamin A: diverse phenotypes, many functions. 6
15194946 2004
22
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings. 61 54
17431908 2007
23
A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. 54 61
14988809 2004
24
Frontometaphyseal dysplasia 1 in a patient from Sri Lanka. 61
33372358 2021
25
X-linked frontometaphyseal dysplasia with severe scoliosis and spinal cord compromise in an Indian boy. 61
33615695 2021
26
Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1. 61
33718301 2021
27
A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype. 61
32299812 2020
28
Anterior Segment Dysgenesis With Accessory Iris Membranes in an Infant With Otopalatodigital Spectrum Disorder and Mutation in the FLNA Gene. 61
31978233 2020
29
Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7. 61
29660408 2018
30
Whole genome sequencing and 6-year follow-up of a mother and daughter with frontometaphyseal dysplasia associated with keratitis, xerosis, poikiloderma, and acro-osteolysis: A case report. 61
29995760 2018
31
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder. 61
29467388 2018
32
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations. 61
28386937 2018
33
Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With FLNA. 61
29237676 2017
34
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. 61
28498505 2017
35
Skeletal Dysplasia Mutations Effect on Human Filamins' Structure and Mechanosensing. 61
28652603 2017
36
Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin A. 61
28348077 2017
37
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. 61
27193221 2016
38
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. 61
27426733 2016
39
Fetal phenotypes in otopalatodigital spectrum disorders. 61
26404489 2016
40
Association of mutations in FLNA with craniosynostosis. 61
25873011 2015
41
Frontometaphyseal dysplasia and keloid formation without FLNA mutations. 61
25899317 2015
42
Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation. 61
25820619 2015
43
Airway management of a child with frontometaphyseal dysplasia (Gorlin Cohen syndrome). 61
24803775 2014
44
Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report. 61
22233653 2012
45
Structure of filamin A immunoglobulin-like repeat 10 from Homo sapiens. 61
21821884 2011
46
Lung disease associated with periventricular nodular heterotopia and an FLNA mutation. 61
20888935 2011
47
Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome. 61
20186808 2010
48
The Erlenmeyer flask bone deformity in the skeletal dysplasias. 61
19444897 2009
49
Professional awareness is needed to distinguish between child physical abuse from other disorders that can mimic signs of abuse (Skull base sclerosis in infant manifesting features of infantile cortical hyperostosis): a case report and review of the literature. 61
19203363 2009
50
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. 61
16926860 2007
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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 695)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLNA NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter) SNV Pathogenic 533562 rs1557177738 GRCh37: X:153588634-153588634
GRCh38: X:154360266-154360266
2 FLNA NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) SNV Pathogenic 209154 rs797045044 GRCh37: X:153586596-153586596
GRCh38: X:154358228-154358228
3 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs) Deletion Pathogenic 652215 rs1603358246 GRCh37: X:153577288-153577289
GRCh38: X:154348920-154348921
4 FLNA NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter) SNV Pathogenic 853726 GRCh37: X:153594961-153594961
GRCh38: X:154366593-154366593
5 FLNA NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter) SNV Pathogenic 864458 GRCh37: X:153594745-153594745
GRCh38: X:154366377-154366377
6 FLNA NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter) SNV Pathogenic 856285 GRCh37: X:153582022-153582022
GRCh38: X:154353654-154353654
7 FLNA NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs) Deletion Pathogenic 940733 GRCh37: X:153592978-153592984
GRCh38: X:154364610-154364616
8 FLNA NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter) SNV Pathogenic 941466 GRCh37: X:153588421-153588421
GRCh38: X:154360053-154360053
9 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7612_7613del (p.Leu2538fs) Microsatellite Pathogenic 938503 GRCh37: X:153577873-153577874
GRCh38: X:154349505-154349506
10 FLNA NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter) SNV Pathogenic 959369 GRCh37: X:153585923-153585923
GRCh38: X:154357555-154357555
11 FLNA NM_001110556.2(FLNA):c.2283dup (p.Asn762fs) Duplication Pathogenic 959608 GRCh37: X:153591149-153591150
GRCh38: X:154362781-154362782
12 FLNA NM_001110556.2(FLNA):c.6586del (p.His2196fs) Deletion Pathogenic 964600 GRCh37: X:153580732-153580732
GRCh38: X:154352364-154352364
13 FLNA NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter) SNV Pathogenic 967048 GRCh37: X:153594817-153594817
GRCh38: X:154366449-154366449
14 FLNA NM_001110556.2(FLNA):c.3476A>C (p.Asp1159Ala) SNV Pathogenic 11757 rs28935471 GRCh37: X:153588687-153588687
GRCh38: X:154360319-154360319
15 FLNA NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu) SNV Pathogenic 405445 rs1060500716 GRCh37: X:153588495-153588495
GRCh38: X:154360127-154360127
16 FLNA NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs) Deletion Pathogenic 405447 rs1060500718 GRCh37: X:153581697-153581698
GRCh38: X:154353329-154353330
17 FLNA NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs) Deletion Pathogenic 464997 rs1557177086 GRCh37: X:153585895-153585907
GRCh38: X:154357527-154357539
18 FLNA NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer) Duplication Pathogenic 465027 rs1557179357 GRCh37: X:153594986-153594987
GRCh38: X:154366618-154366619
19 FLNA NM_001110556.2(FLNA):c.3814del (p.Arg1272fs) Deletion Pathogenic 533585 rs1557177636 GRCh37: X:153588265-153588265
GRCh38: X:154359897-154359897
20 FLNA NM_001110556.2(FLNA):c.5643del (p.Asn1881fs) Deletion Pathogenic 575768 rs1569551502 GRCh37: X:153582326-153582326
GRCh38: X:154353958-154353958
21 FLNA NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter) SNV Pathogenic 580826 rs1569551861 GRCh37: X:153596053-153596053
GRCh38: X:154367685-154367685
22 FLNA NM_001110556.2(FLNA):c.5879dup (p.Met1960fs) Duplication Pathogenic 647567 rs1603359464 GRCh37: X:153581806-153581807
GRCh38: X:154353438-154353439
23 FLNA NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter) SNV Pathogenic 574177 rs1557177623 GRCh37: X:153588214-153588214
GRCh38: X:154359846-154359846
24 FLNA NM_001110556.2(FLNA):c.2565+1G>A SNV Pathogenic 575118 rs786205186 GRCh37: X:153590785-153590785
GRCh38: X:154362417-154362417
25 FLNA NM_001110556.2(FLNA):c.2452del (p.Ala818fs) Deletion Pathogenic 659278 rs1603361851 GRCh37: X:153590899-153590899
GRCh38: X:154362531-154362531
26 FLNA NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) SNV Pathogenic 11761 rs137853312 GRCh37: X:153588606-153588606
GRCh38: X:154360238-154360238
27 FLNA NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs) Indel Pathogenic 662513 rs1603361195 GRCh37: X:153588859-153588867
GRCh38: X:154360491-154360499
28 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) Insertion Pathogenic 453200 rs1557175195 GRCh37: X:153577381-153577382
GRCh38: X:154349013-154349014
29 FLNA NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) SNV Pathogenic 11761 rs137853312 GRCh37: X:153588606-153588606
GRCh38: X:154360238-154360238
30 FLNA NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter) SNV Pathogenic 234717 rs782308324 GRCh37: X:153578477-153578477
GRCh38: X:154350109-154350109
31 FLNA NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=) SNV Pathogenic 11775 rs387907371 GRCh37: X:153583193-153583193
GRCh38: X:154354825-154354825
32 FLNA NM_001110556.2(FLNA):c.4142+1G>A SNV Likely pathogenic 662049 rs1603360906 GRCh37: X:153587851-153587851
GRCh38: X:154359483-154359483
33 FLNA NM_001110556.2(FLNA):c.5686+1G>C SNV Likely pathogenic 533566 rs1557176315 GRCh37: X:153582282-153582282
GRCh38: X:154353914-154353914
34 FLNA NM_001110556.2(FLNA):c.4143-1G>T SNV Likely pathogenic 464989 rs1557177485 GRCh37: X:153587775-153587775
GRCh38: X:154359407-154359407
35 FLNA NM_001110556.2(FLNA):c.4596_4598+5del Deletion Likely pathogenic 464993 rs1557177279 GRCh37: X:153586808-153586815
GRCh38: X:154358440-154358447
36 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7768_7770CTG[1] (p.Leu2591del) Microsatellite Likely pathogenic 854776 GRCh37: X:153577388-153577390
GRCh38: X:154349020-154349022
37 FLNA NM_001110556.2(FLNA):c.2827-2A>C SNV Likely pathogenic 859086 GRCh37: X:153590157-153590157
GRCh38: X:154361789-154361789
38 FLNA NM_001110556.2(FLNA):c.1065+1G>T SNV Likely pathogenic 841425 GRCh37: X:153594929-153594929
GRCh38: X:154366561-154366561
39 FLNA NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) SNV Likely pathogenic 11772 rs137853317 GRCh37: X:153596246-153596246
GRCh38: X:154367878-154367878
40 FLNA NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His) SNV Uncertain significance 533573 rs369668866 GRCh37: X:153588903-153588903
GRCh38: X:154360535-154360535
41 FLNA NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) SNV Uncertain significance 93756 rs371677498 GRCh37: X:153588840-153588840
GRCh38: X:154360472-154360472
42 FLNA NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) SNV Uncertain significance 213491 rs782447567 GRCh37: X:153596263-153596263
GRCh38: X:154367895-154367895
43 FLNA NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His) SNV Uncertain significance 167077 rs727503930 GRCh37: X:153578560-153578560
GRCh38: X:154350192-154350192
44 FLNA NM_001110556.2(FLNA):c.4589T>G (p.Val1530Gly) SNV Uncertain significance 1035000 GRCh37: X:153586822-153586822
GRCh38: X:154358454-154358454
45 FLNA NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys) SNV Uncertain significance 197460 rs781878646 GRCh37: X:153579959-153579959
GRCh38: X:154351591-154351591
46 FLNA NM_001110556.2(FLNA):c.305T>G (p.Met102Arg) SNV Uncertain significance 1036609 GRCh37: X:153599309-153599309
GRCh38: X:154370941-154370941
47 FLNA NM_001110556.2(FLNA):c.2071A>C (p.Lys691Gln) SNV Uncertain significance 1036639 GRCh37: X:153592692-153592692
GRCh38: X:154364324-154364324
48 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7898_7900del (p.Gly2633del) Deletion Uncertain significance 213497 rs863223635 GRCh37: X:153577261-153577263
GRCh38: X:154348893-154348895
49 FLNA NM_001110556.2(FLNA):c.3139T>C (p.Tyr1047His) SNV Uncertain significance 1038868 GRCh37: X:153589744-153589744
GRCh38: X:154361376-154361376
50 FLNA NM_001110556.2(FLNA):c.781C>G (p.Leu261Val) SNV Uncertain significance 1038884 GRCh37: X:153595852-153595852
GRCh38: X:154367484-154367484
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:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010

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

# Super pathways Score Top Affiliating Genes
1
MAPK signaling pathway 36 1
12.32 TAB2 MAP3K7 FLNC FLNB FLNA
2
Salmonella infection (KEGG) 36
Show member pathways
 12.2 TAB2 MAP3K7 FLNC FLNB FLNA
3
Sulfation Biotransformation Reaction 1
10.62 PAPSS2 PAPSS1
4
Noncanonical Wnt signaling pathway 1
10.61 TAB2 MAP3K7 FLNA
5
Sulfur metabolism 36
10.32 PAPSS2 PAPSS1
6
Selenocompound metabolism 36
10.03 PAPSS2 PAPSS1 MTR
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 Z disc GO:0030018 8.8 FLNC FLNB FLNA

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

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

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

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

Sources for Frontometaphyseal Dysplasia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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