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FMD
MCID: FRN012
MIFTS: 52

Frontometaphyseal Dysplasia (FMD)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Frontometaphyseal Dysplasia

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MalaCards integrated aliases for Frontometaphyseal Dysplasia:

Name: Frontometaphyseal Dysplasia 11 19 42 58 28 53 5 43 14 71
Fmd 11 42
Dysplasia, Frontometaphyseal 38

Characteristics:


Inheritance:

Autosomal dominant,X-linked dominant 58

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Neonatal 58

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Neuronal diseases Bone diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 32
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: 42 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 bony abnormalities involving various areas of the skeleton.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.There are three types of frontometaphyseal dysplasia, known as type 1, type 2, and type 3. The three types differ in their genetic cause and the way they are inherited.

MalaCards based summary: Frontometaphyseal Dysplasia, also known as fmd, is related to frontometaphyseal dysplasia 2 and frontometaphyseal dysplasia 1. An important gene associated with Frontometaphyseal Dysplasia is FLNA (Filamin A), and among its related pathways/superpathways are TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions and Cytoskeletal Signaling. Affiliated tissues include bone, heart and spinal cord, and related phenotypes are scoliosis and skeletal dysplasia

GARD: 19 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 genetic changes in the FLNA gene. Inheritance is X-linked. There is also a form of FMD caused by genetic changes in the gene MAP3K7 with is known as Frontometaphyseal dysplasia 2 and it is inherited in an autosomal dominant manner.

Orphanet: 58 A rare multiple congenital anomalies/dysmorphic syndrome characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.

Disease Ontology: 11 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.
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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 136)
# Related Disease Score Top Affiliating Genes
1 frontometaphyseal dysplasia 2 32.9 MAP3K7 LSS FBXW2 CHORDC1
2 frontometaphyseal dysplasia 1 32.7 LSS FLNA FBXW2 DTD2 CHORDC1
3 otopalatodigital syndrome, type i 32.4 RFLNB FLNB FLNA
4 otopalatodigital syndrome, type ii 32.2 LOC107988032 FLNC FLNB FLNA
5 terminal osseous dysplasia 32.0 FLNC FLNB FLNA
6 melnick-needles syndrome 31.8 RFLNB LOC107988032 FLNC FLNB FLNA CLRN2
7 otopalatodigital syndrome spectrum disorder 31.4 TAB2 MAP3K7 LSS FLNC FLNB FLNA
8 oto-palatal-digital syndrome 30.6 LOC107988032 FLNA
9 periventricular nodular heterotopia 1 30.3 LOC107988032 FLNA
10 boomerang dysplasia 30.3 FLNC FLNB FLNA
11 atelosteogenesis 30.3 FLNC FLNB FLNA
12 periventricular nodular heterotopia 30.1 FLNC FLNB FLNA
13 fibromuscular dysplasia, arterial 11.4
14 fibromuscular dysplasia 11.4
15 facioscapulohumeral muscular dystrophy 1 11.1
16 mouth disease 10.9
17 x-linked otopalatodigital spectrum disorders 10.5
18 hyperostosis 10.5
19 osteochondrodysplasia 10.5
20 scoliosis 10.4
21 viral infectious disease 10.4
22 cohen syndrome 10.3
23 keloid disorder 10.3
24 hypertelorism 10.3
25 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
26 cleft palate, isolated 10.2
27 myopathy, myofibrillar, 5 10.2 FLNC FLNB FLNA
28 cardiospondylocarpofacial syndrome 10.2 MAP3K7 FLNB
29 larsen syndrome 10.2 FLNC FLNB FLNA
30 arteries, anomalies of 10.1
31 hyperlipoproteinemia, type iii 10.1
32 lipoprotein quantitative trait locus 10.1
33 vascular disease 10.1
34 pulmonary hypertension, primary, 1 10.1
35 pyle disease 10.1
36 metaphyseal dysplasia 10.1
37 tracheal stenosis 10.1
38 patent foramen ovale 10.1 TAB2 LOC107988032 FLNC FLNA
39 myofibrillar myopathy 10.1 SVIL FLNC FLNB FLNA
40 craniodiaphyseal dysplasia 10.1 OR10G2 KRTAP10-5
41 neurodegeneration with brain iron accumulation 2a 10.1
42 coronary heart disease 1 10.1
43 parkinson disease, late-onset 10.0
44 fanconi anemia, complementation group e 10.0
45 stroke, ischemic 10.0
46 tatton-brown-rahman syndrome 10.0
47 follicular lymphoma 10.0
48 familial hyperlipidemia 10.0
49 renovascular hypertension 10.0
50 heart valve disease 10.0

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 30 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002650
2 skeletal dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002652
3 hypertelorism 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000316
4 prominent supraorbital ridges 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000336
5 wide nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000431
6 broad thumb 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0011304
7 micrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000347
8 downslanted palpebral fissures 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000494
9 long fingers 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0100807
10 coarse facial features 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000280
11 full cheeks 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000293
12 elbow flexion contracture 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002987
13 hydronephrosis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000126
14 urethral stenosis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0008661
15 keloids 58 30 Frequent (33%) Frequent (79-30%)
 HP:0010562
16 wrist flexion contracture 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001239
17 camptodactyly of finger 58 30 Frequent (33%) Frequent (79-30%)
 HP:0100490
18 short metacarpal 58 30 Frequent (33%) Frequent (79-30%)
 HP:0010049
19 abnormal heart morphology 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001627
20 fused cervical vertebrae 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002949
21 dislocated radial head 58 30 Frequent (33%) Frequent (79-30%)
 HP:0003083
22 subglottic stenosis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001607
23 limited wrist movement 58 30 Frequent (33%) Frequent (79-30%)
 HP:0006248
24 short metatarsal 58 30 Frequent (33%) Frequent (79-30%)
 HP:0010743
25 short distal phalanx of the thumb 58 30 Frequent (33%) Frequent (79-30%)
 HP:0009650
26 metacarpophalangeal joint contracture 58 30 Frequent (33%) Frequent (79-30%)
 HP:0006070
27 metaphyseal widening 58 30 Frequent (33%) Frequent (79-30%)
 HP:0003016
28 ureteral obstruction 58 30 Frequent (33%) Frequent (79-30%)
 HP:0006000
29 pes valgus 58 30 Frequent (33%) Frequent (79-30%)
 HP:0008081
30 sclerosis of skull base 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002694
31 limitation of movement at ankles 58 30 Frequent (33%) Frequent (79-30%)
 HP:0010505
32 limitation of knee mobility 58 30 Frequent (33%) Frequent (79-30%)
 HP:0010501
33 ulnar deviation of the hand 58 30 Frequent (33%) Frequent (79-30%)
 HP:0009487
34 short diaphyses 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000941
35 intellectual disability 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001249
36 growth delay 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001510
37 sprengel anomaly 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000912
38 amblyopia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000646
39 spina bifida occulta 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0003298
40 pes cavus 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001761
41 craniosynostosis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001363
42 bifid uvula 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000193
43 astigmatism 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000483
44 single transverse palmar crease 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000954
45 mixed hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000410
46 oligodontia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000677
47 shoulder muscle hypoplasia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0008952
48 hypotrophy of the small hand muscles 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0006006
49 progressive bowing of long bones 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0006383
50 chiari malformation 30 Occasional (7.5%) HP:0002308

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 FBXW2 FLNA FLNC LSS MADD MAP3K7
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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 28
Sources

Anatomical Context for Frontometaphyseal Dysplasia

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Organs/tissues related to Frontometaphyseal Dysplasia:

MalaCards : Bone, Heart, Spinal Cord, Lung
Sources

Publications for Frontometaphyseal Dysplasia

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Articles related to Frontometaphyseal Dysplasia:

(show top 50) (show all 92)
# Title Authors PMID Year
1
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 53 62 5
12612583 2003
2
Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function. 5
26059841 2016
3
47 patients with FLNA associated periventricular nodular heterotopia. 5
26471271 2015
4
Combined cardiological and neurological abnormalities due to filamin A gene mutation. 5
20730588 2011
5
A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation. 5
17264970 2007
6
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 5
16684786 2006
7
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
8
Molecular pathology of filamin A: diverse phenotypes, many functions. 5
15194946 2004
9
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings. 53 62
17431908 2007
10
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. 53 62
16835913 2006
11
Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. 53 62
16596676 2006
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. 53 62
14988809 2004
13
Frontometaphyseal dysplasia 2 associated with thoracic deformity, and pulmonary arterial hypertension: a case report and review of literature. 62
36374066 2022
14
A novel MAP3K7 mutation in a child with cardiospondylocarpofacial syndrome and orofacial clefting. 62
36320120 2022
15
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations. 62
35730652 2022
16
Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia. 62
34272929 2021
17
Surgical Management of Craniomaxillofacial Features in the Otopalatodigital Spectrum Disorders. 62
34183625 2021
18
[Exploration of cochlear implant in frontometaphyseal dysplasia 2 patient with MAP3K7 gene mutation: a case report]. 62
34666472 2021
19
A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia. 62
34716296 2021
20
X-linked frontometaphyseal dysplasia with severe scoliosis and spinal cord compromise in an Indian boy. 62
33615695 2021
21
Frontometaphyseal dysplasia 1 in a patient from Sri Lanka. 62
33372358 2021
22
[Frontometaphyseal dysplasia 1 caused by variant of FLNA gene in a case]. 62
33834464 2021
23
Multi-directional Cranial Distraction Osteogenesis for Treating Sagittal Synostosis with Frontometaphyseal Dysplasia: A Case Report. 62
33912371 2021
24
Case Report: Pansynostosis, Chiari I Malformation and Syringomyelia in a Child With Frontometaphyseal Dysplasia 1. 62
34277511 2021
25
Phenotype and Genotype Study in a Case of Frontometaphyseal Dysplasia 1. 62
35023120 2021
26
Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1. 62
33718301 2021
27
A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype. 62
32299812 2020
28
Anterior Segment Dysgenesis With Accessory Iris Membranes in an Infant With Otopalatodigital Spectrum Disorder and Mutation in the FLNA Gene. 62
31978233 2020
29
Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7. 62
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. 62
29995760 2018
31
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder. 62
29467388 2018
32
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations. 62
28386937 2018
33
Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With FLNA. 62
29237676 2017
34
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. 62
28498505 2017
35
Skeletal Dysplasia Mutations Effect on Human Filamins' Structure and Mechanosensing. 62
28652603 2017
36
Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin A. 62
28348077 2017
37
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. 62
27193221 2016
38
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. 62
27426733 2016
39
Fetal phenotypes in otopalatodigital spectrum disorders. 62
26404489 2016
40
Association of mutations in FLNA with craniosynostosis. 62
25873011 2015
41
Frontometaphyseal dysplasia and keloid formation without FLNA mutations. 62
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. 62
25820619 2015
43
Airway management of a child with frontometaphyseal dysplasia (Gorlin Cohen syndrome). 62
24803775 2014
44
Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report. 62
22233653 2012
45
Structure of filamin A immunoglobulin-like repeat 10 from Homo sapiens. 62
21821884 2011
46
Lung disease associated with periventricular nodular heterotopia and an FLNA mutation. 62
20888935 2011
47
Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome. 62
20186808 2010
48
The Erlenmeyer flask bone deformity in the skeletal dysplasias. 62
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. 62
19203363 2009
50
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. 62
16926860 2007
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Variations for Frontometaphyseal Dysplasia

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ClinVar genetic disease variations for Frontometaphyseal Dysplasia:

5 (show top 50) (show all 1530)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLNA NM_001110556.2(FLNA):c.2191_2192insGT (p.Tyr731fs) INSERT Pathogenic
 1407335 GRCh37: X:153592478-153592479
GRCh38: X:154364110-154364111
2 FLNA NM_001110556.2(FLNA):c.4281del (p.Tyr1428fs) DEL Pathogenic
 1456389 GRCh37: X:153587636-153587636
GRCh38: X:154359268-154359268
3 FLNA NM_001110556.2(FLNA):c.1112_1113dup (p.Val372fs) DUP Pathogenic
 1444364 GRCh37: X:153594790-153594791
GRCh38: X:154366422-154366423
4 FLNA NM_001110556.2(FLNA):c.2751_2752dup (p.Asp918fs) DUP Pathogenic
 1434332 GRCh37: X:153590420-153590421
GRCh38: X:154362052-154362053
5 FLNA NM_001110556.2(FLNA):c.656del (p.Ser219fs) DEL Pathogenic
 1451173 GRCh37: X:153596073-153596073
GRCh38: X:154367705-154367705
6 FLNA NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs) DEL Pathogenic
 940733 rs2067741257 GRCh37: X:153592978-153592984
GRCh38: X:154364610-154364616
7 FLNA NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter) SNV Pathogenic
 959369 rs781789823 GRCh37: X:153585923-153585923
GRCh38: X:154357555-154357555
8 FLNA NM_001110556.2(FLNA):c.2283dup (p.Asn762fs) DUP Pathogenic
 959608 rs2067723474 GRCh37: X:153591149-153591150
GRCh38: X:154362781-154362782
9 FLNA NM_001110556.2(FLNA):c.6586del (p.His2196fs) DEL Pathogenic
 964600 rs2067626336 GRCh37: X:153580732-153580732
GRCh38: X:154352364-154352364
10 FLNA NM_001110556.2(FLNA):c.334_335insGAGAACGTGTCGG (p.Glu112fs) INSERT Pathogenic
 1069630 GRCh37: X:153599279-153599280
GRCh38: X:154370911-154370912
11 FLNA NM_001110556.2(FLNA):c.829_835del (p.Arg276_Pro277insTer) DEL Pathogenic
 1071650 GRCh37: X:153595798-153595804
GRCh38: X:154367430-154367436
12 FLNA NM_001110556.2(FLNA):c.577C>T (p.Gln193Ter) SNV Pathogenic
 1072111 GRCh37: X:153596255-153596255
GRCh38: X:154367887-154367887
13 FLNA NM_001110556.2(FLNA):c.6329_6330del (p.Glu2110fs) MICROSAT Pathogenic
 1072754 GRCh37: X:153581189-153581190
GRCh38: X:154352821-154352822
14 FLNA NM_001110556.2(FLNA):c.2963_2964del (p.Asp988fs) DEL Pathogenic
 1452088 GRCh37: X:153589919-153589920
GRCh38: X:154361551-154361552
15 FLNA NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter) SNV Pathogenic
 93752 rs398123614 GRCh37: X:153590412-153590412
GRCh38: X:154362044-154362044
16 overlap with 2 genes NC_000023.10:g.(?_153599231)_(153609567_?)del DEL Pathogenic
 1455467 GRCh37: X:153599231-153609567
GRCh38:
17 FLNA NM_001110556.2(FLNA):c.1759G>T (p.Glu587Ter) SNV Pathogenic
 1429750 GRCh37: X:153593258-153593258
GRCh38: X:154364890-154364890
18 LOC107988032, FLNA NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs) DEL Pathogenic
 652215 rs1603358246 GRCh37: X:153577288-153577289
GRCh38: X:154348920-154348921
19 FLNA NM_001110556.2(FLNA):c.2965C>T (p.Gln989Ter) SNV Pathogenic
 1075551 GRCh37: X:153589918-153589918
GRCh38: X:154361550-154361550
20 FLNA NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter) SNV Pathogenic
 234717 rs782308324 GRCh37: X:153578477-153578477
GRCh38: X:154350109-154350109
21 LOC107988032, FLNA NM_001110556.2(FLNA):c.7612_7613del (p.Leu2538fs) MICROSAT Pathogenic
 938503 rs2067602034 GRCh37: X:153577873-153577874
GRCh38: X:154349505-154349506
22 FLNA NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter) SNV Pathogenic
 941466 rs2067693064 GRCh37: X:153588421-153588421
GRCh38: X:154360053-154360053
23 FLNA NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter) SNV Pathogenic
 405446 rs1060500717 GRCh37: X:153580594-153580594
GRCh38: X:154352226-154352226
24 FLNA NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter) SNV Pathogenic
 967048 rs2067761804 GRCh37: X:153594817-153594817
GRCh38: X:154366449-154366449
25 FLNA NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=) SNV Pathogenic
 11775 rs387907371 GRCh37: X:153583193-153583193
GRCh38: X:154354825-154354825
26 LOC107988032, FLNA NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) MICROSAT Pathogenic
 453200 rs1557175195 GRCh37: X:153577381-153577382
GRCh38: X:154349013-154349014
27 FLNA NM_001110556.2(FLNA):c.4138dup (p.Thr1380fs) DUP Pathogenic
 1075693 GRCh37: X:153587855-153587856
GRCh38: X:154359487-154359488
28 FLNA NM_001110556.2(FLNA):c.5146del (p.Gln1716fs) DEL Pathogenic
 1073243 GRCh37: X:153583264-153583264
GRCh38: X:154354896-154354896
29 FLNA NM_001110556.2(FLNA):c.6677dup (p.Gln2227fs) DUP Pathogenic
 1071106 GRCh37: X:153580640-153580641
GRCh38: X:154352272-154352273
30 FLNA NM_001110556.2(FLNA):c.2947dup (p.Val983fs) DUP Pathogenic
 1070361 GRCh37: X:153589935-153589936
GRCh38: X:154361567-154361568
31 FLNA NM_001110556.2(FLNA):c.812del (p.Pro271fs) DEL Pathogenic
 1070215 GRCh37: X:153595821-153595821
GRCh38: X:154367453-154367453
32 FLNA NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter) SNV Pathogenic
 864458 rs2067760741 GRCh37: X:153594745-153594745
GRCh38: X:154366377-154366377
33 FLNA NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter) SNV Pathogenic
 856285 rs1359141531 GRCh37: X:153582022-153582022
GRCh38: X:154353654-154353654
34 FLNA NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter) SNV Pathogenic
 853726 rs2067763458 GRCh37: X:153594961-153594961
GRCh38: X:154366593-154366593
35 FLNA NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter) SNV Pathogenic
 533562 rs1557177738 GRCh37: X:153588634-153588634
GRCh38: X:154360266-154360266
36 FLNA NM_001110556.2(FLNA):c.7005_7008del (p.Thr2336fs) DEL Pathogenic
 1457183 GRCh37: X:153579964-153579967
GRCh38: X:154351596-154351599
37 FLNA NM_001110556.2(FLNA):c.1907G>A (p.Trp636Ter) SNV Pathogenic
 1457377 GRCh37: X:153593009-153593009
GRCh38: X:154364641-154364641
38 FLNA NM_001110556.2(FLNA):c.6898C>T (p.Gln2300Ter) SNV Pathogenic
 1455761 GRCh37: X:153580261-153580261
GRCh38: X:154351893-154351893
39 FLNA NM_001110556.2(FLNA):c.7285_7286dup (p.Gly2430fs) DUP Pathogenic
 1399735 GRCh37: X:153578445-153578446
GRCh38: X:154350077-154350078
40 FLNA NM_001110556.2(FLNA):c.6318C>G (p.Tyr2106Ter) SNV Pathogenic
 1383677 GRCh37: X:153581201-153581201
GRCh38: X:154352833-154352833
41 FLNA NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) SNV Pathogenic
 11759 rs28935473 GRCh37: X:153588567-153588567
GRCh38: X:154360199-154360199
42 FLNA NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) SNV Pathogenic
 209154 rs797045044 GRCh37: X:153586596-153586596
GRCh38: X:154358228-154358228
43 FLNA NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) SNV Pathogenic
 11772 rs137853317 GRCh37: X:153596246-153596246
GRCh38: X:154367878-154367878
44 FLNA NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys) SNV Pathogenic
 11756 rs28935470 GRCh37: X:153595873-153595873
GRCh38: X:154367505-154367505
45 FLNA NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) SNV Pathogenic
 11761 rs137853312 GRCh37: X:153588606-153588606
GRCh38: X:154360238-154360238
46 FLNA NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu) SNV Pathogenic
 405445 rs1060500716 GRCh37: X:153588495-153588495
GRCh38: X:154360127-154360127
47 FLNA NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs) DEL Pathogenic
 405447 rs1060500718 GRCh37: X:153581697-153581698
GRCh38: X:154353329-154353330
48 FLNA NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs) DEL Pathogenic
 464997 rs1557177086 GRCh37: X:153585895-153585907
GRCh38: X:154357527-154357539
49 FLNA NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer) DUP Pathogenic
 465027 rs1557179357 GRCh37: X:153594986-153594987
GRCh38: X:154366618-154366619
50 FLNA NM_001110556.2(FLNA):c.3814del (p.Arg1272fs) DEL Pathogenic
 533585 rs1557177636 GRCh37: X:153588265-153588265
GRCh38: X:154359897-154359897
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 13)
# Super pathways Score Top Affiliating Genes
1
TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions 65
Show member pathways
 12.35 TAB2 TAB1 MAP3K7 MADD
2
Cytoskeletal Signaling 3
12.16 EVL FLNA FLNB FLNC
3
MAP kinase activation 66
Show member pathways
 11.85 TAB2 TAB1 MAP3K7
4
TNF signaling 66
Show member pathways
 11.77 TAB2 TAB1 MAP3K7 MADD
5
Ebola virus infection in host 74
11.74 FLNC FLNB FLNA
6
MAP Kinase Signaling 3
11.63 TAB2 TAB1 MAP3K7
7
MAPK signaling pathway 74
11.49 TAB2 TAB1 MAP3K7 FLNC FLNB FLNA
8
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways 66
Show member pathways
 11.47 TAB2 TAB1 MAP3K7
9
Transcription_P53 signaling pathway 22
11.43 FLNC FLNB FLNA
10
miRNAs involvement in the immune response in sepsis 74
11.23 TAB2 TAB1 MAP3K7
11
Noncanonical Wnt signaling pathway 61
10.89 MAP3K7 FLNA
12
activated TAK1 mediates p38 MAPK activation 66
Show member pathways
 10.8 TAB2 TAB1 MAP3K7
13
p38 MAPK signaling pathway (Pathway Interaction Database) 61
10.71 TAB2 MAP3K7
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 focal adhesion GO:0005925 9.96 SVIL FLNC FLNB FLNA EVL
2 costamere GO:0043034 9.62 SVIL FLNC
3 Z disc GO:0030018 9.56 FLNC FLNB FLNA FHL5
4 actin filament bundle GO:0032432 9.46 RFLNB FLNA
5 intracellular non-membrane-bounded organelle GO:0043232 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 actin cytoskeleton organization GO:0030036 9.35 RFLNB FLNC FLNB FLNA
2 cytoskeleton organization GO:0007010 8.92 SVIL FLNC FLNB FLNA

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

# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.56 SVIL FLNC FLNB FLNA
2 actin binding GO:0003779 9.17 SVIL FLNC FLNB FLNA EVL
Sources

Sources for Frontometaphyseal Dysplasia

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 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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