FMD1
MCID: FRN049
MIFTS: 43

Frontometaphyseal Dysplasia 1 (FMD1)

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

Aliases & Classifications for Frontometaphyseal Dysplasia 1

MalaCards integrated aliases for Frontometaphyseal Dysplasia 1:

Name: Frontometaphyseal Dysplasia 1 57 12 72 29 6 15
Fmd1 57 12 72
Fmd 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive

Miscellaneous:
otopalatodigital syndrome type ii (opd2, ) is an allelic disorder
melnick-needles syndrome (mns, ) is an allelic disorder
periventricular heterotopia is an allelic disorder
variable expression in females otopalatodigital syndrome type i (opd1, ) is an allelic disorder


HPO:

31
frontometaphyseal dysplasia 1:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Frontometaphyseal Dysplasia 1

OMIM® : 57 Frontometaphyseal dysplasia-1 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include otopalatodigital syndrome-1 (OPD1; 311300), otopalatodigital syndrome-2 (OPD2; 304120), and Melnick-Needles syndrome (MNS; 309350), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD1 is characterized by a generalized skeletal dysplasia, deafness, and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by Robertson, 2005). Verloes et al. (2000) suggested that these disorders constitute a single entity, which they termed 'frontootopalatodigital osteodysplasia.' (305620) (Updated 05-Apr-2021)

MalaCards based summary : Frontometaphyseal Dysplasia 1, also known as fmd1, is related to otopalatodigital syndrome, type ii and melnick-needles syndrome. An important gene associated with Frontometaphyseal Dysplasia 1 is FLNA (Filamin A). Affiliated tissues include bone, skeletal muscle and heart, and related phenotypes are intellectual disability and scoliosis

Disease Ontology : 12 A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has material basis in homozygous or hemizygous mutation in FLNA on chromosome Xq28.

UniProtKB/Swiss-Prot : 72 Frontometaphyseal dysplasia 1: An X-linked disease characterized by generalized skeletal dysplasia, deafness, and urogenital defects.

Related Diseases for Frontometaphyseal Dysplasia 1

Diseases in the Frontometaphyseal Dysplasia family:

Frontometaphyseal Dysplasia 1 Frontometaphyseal Dysplasia 2

Diseases related to Frontometaphyseal Dysplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 otopalatodigital syndrome, type ii 31.8 LOC107988032 FLNA
2 melnick-needles syndrome 31.6 LOC107988032 FLNA
3 frontometaphyseal dysplasia 2 31.1 KLHL24 FBXW2 CCDC65
4 frontometaphyseal dysplasia 30.3 LOC107988032 FLNA FBXW2
5 fibromuscular dysplasia 11.6
6 otopalatodigital syndrome, type i 11.1
7 facioscapulohumeral muscular dystrophy 1 11.1
8 mouth disease 10.9
9 coronary artery dissection, spontaneous 10.9
10 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 10.2 LOC107988032 FLNA
11 flna-related periventricular nodular heterotopia 10.2 LOC107988032 FLNA
12 fg syndrome 2 10.2 LOC107988032 FLNA
13 periventricular nodular heterotopia 1 10.2 LOC107988032 FLNA
14 terminal osseous dysplasia 10.1 LOC107988032 FLNA
15 cardiac valvular dysplasia, x-linked 10.1 LOC107988032 FLNA
16 oto-palatal-digital syndrome 10.1 LOC107988032 FLNA
17 arteries, anomalies of 10.1
18 lipoprotein quantitative trait locus 10.1
19 muscular dystrophy, duchenne type 10.0
20 scoliosis 10.0
21 hyperostosis 10.0
22 muscular dystrophy 10.0
23 follicular lymphoma 10.0
24 vascular disease 10.0
25 ischemia 10.0
26 heart valve disease 10.0
27 anthrax disease 10.0
28 47,xyy 10.0
29 cytokine deficiency 10.0
30 aneurysm 10.0
31 blood group, i system 9.9 LOC107988032 FLNA
32 atrial standstill 1 9.8
33 hypertriglyceridemia, familial 9.8
34 systemic lupus erythematosus 9.8
35 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.8
36 ocular motor apraxia 9.8
37 body mass index quantitative trait locus 1 9.8
38 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 9.8
39 proteinuria, chronic benign 9.8
40 disease by infectious agent 9.8
41 arterial calcification of infancy 9.8
42 bacterial infectious disease 9.8
43 mastitis 9.8
44 rabies 9.8
45 disease of mental health 9.8
46 urticaria 9.8
47 renovascular hypertension 9.8
48 arteriosclerosis 9.8
49 skin disease 9.8
50 theileriasis 9.8

Graphical network of the top 20 diseases related to Frontometaphyseal Dysplasia 1:



Diseases related to Frontometaphyseal Dysplasia 1

Symptoms & Phenotypes for Frontometaphyseal Dysplasia 1

Human phenotypes related to Frontometaphyseal Dysplasia 1:

31 (show all 42)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 scoliosis 31 HP:0002650
3 high palate 31 HP:0000218
4 coarse facial features 31 HP:0000280
5 hypertelorism 31 HP:0000316
6 prominent supraorbital ridges 31 HP:0000336
7 dental malocclusion 31 HP:0000689
8 wide nasal bridge 31 HP:0000431
9 sensorineural hearing impairment 31 HP:0000407
10 skeletal muscle atrophy 31 HP:0003202
11 genu valgum 31 HP:0002857
12 elbow flexion contracture 31 HP:0002987
13 scapular winging 31 HP:0003691
14 mitral valve prolapse 31 HP:0001634
15 arachnodactyly 31 HP:0001166
16 downslanted palpebral fissures 31 HP:0000494
17 delayed eruption of teeth 31 HP:0000684
18 hydronephrosis 31 HP:0000126
19 pointed chin 31 HP:0000307
20 wrist flexion contracture 31 HP:0001239
21 coxa valga 31 HP:0002673
22 camptodactyly of finger 31 HP:0100490
23 hydroureter 31 HP:0000072
24 ankle flexion contracture 31 HP:0006466
25 knee flexion contracture 31 HP:0006380
26 stridor 31 HP:0010307
27 fused cervical vertebrae 31 HP:0002949
28 hirsutism 31 HP:0001007
29 persistence of primary teeth 31 HP:0006335
30 selective tooth agenesis 31 HP:0001592
31 short chin 31 HP:0000331
32 long foot 31 HP:0001833
33 anteriorly placed odontoid process 31 HP:0004608
34 broad phalanges of the hand 31 HP:0009768
35 coat hanger sign of ribs 31 HP:0006665
36 cor pulmonale 31 HP:0001648
37 large foramen magnum 31 HP:0002700
38 antegonial notching of mandible 31 HP:0003779
39 long phalanx of finger 31 HP:0006155
40 partial fusion of carpals 31 HP:0006207
41 increased density of long bone diaphyses 31 HP:0006440
42 partial fusion of tarsals 31 HP:0008097

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
anteriorly placed odontoid process
wide interpedicular distance
cervical vertebral fusion

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures

Head And Neck Nose:
wide nasal bridge

Cardiovascular Heart:
mitral valve prolapse

Genitourinary Kidneys:
hydronephrosis

Genitourinary Ureters:
hydroureter

Respiratory Lung:
cor pulmonale

Skeletal Feet:
partial fusion of tarsals
large feet

Chest Ribs Sternum Clavicles And Scapulae:
winged scapulae
irregular rib contours
"coat hanger" deformity of lower ribs

Head And Neck Ears:
progressive mixed conductive and sensorineural hearing loss

Muscle Soft Tissue:
muscle wasting (especially legs and arms)

Head And Neck Mouth:
high palate

Head And Neck Face:
prominent supraorbital ridges
coarse facies
small pointed chin

Skeletal Limbs:
genu valgum
increased density of long bone diaphyses
elbow contractures
knee and ankle contractures
erlenmeyer-flask appearance of femur and tibia

Skeletal Hands:
arachnodactyly
partial fusion of carpals
finger and wrist contractures
wide and elongated phalanges

Skeletal Pelvis:
coxa valga
flared pelvis

Head And Neck Teeth:
selective tooth agenesis
malocclusion
delayed tooth eruption
retained deciduous teeth

Skeletal Skull:
antegonial notching of mandible
incomplete sinus development
wide foramen magnum
hypoplastic condyloid process

Neurologic Central Nervous System:
mental retardation

Respiratory Airways:
congenital stridor
subglottic tracheal narrowing

Skin Nails Hair Hair:
hirsutism of buttocks and thighs

Clinical features from OMIM®:

305620 (Updated 05-Apr-2021)

Drugs & Therapeutics for Frontometaphyseal Dysplasia 1

Search Clinical Trials , NIH Clinical Center for Frontometaphyseal Dysplasia 1

Genetic Tests for Frontometaphyseal Dysplasia 1

Genetic tests related to Frontometaphyseal Dysplasia 1:

# Genetic test Affiliating Genes
1 Frontometaphyseal Dysplasia 1 29 FLNA

Anatomical Context for Frontometaphyseal Dysplasia 1

MalaCards organs/tissues related to Frontometaphyseal Dysplasia 1:

40
Bone, Skeletal Muscle, Heart, Lung, Skin, Endothelial

Publications for Frontometaphyseal Dysplasia 1

Articles related to Frontometaphyseal Dysplasia 1:

(show all 43)
# Title Authors PMID Year
1
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. 6 57
16835913 2006
2
A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation. 6 57
15523633 2005
3
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 57 6
12612583 2003
4
Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings. 6
30561107 2019
5
Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αIIbβ3 Activation. 6
28428218 2017
6
Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R. 6
26686323 2016
7
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
8
Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects. 6
26059211 2015
9
47 patients with FLNA associated periventricular nodular heterotopia. 6
26471271 2015
10
Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA. 6
25686753 2015
11
Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation. 6
25614868 2014
12
Novel no-stop FLNA mutation causes multi-organ involvement in males. 6
23873601 2013
13
Combined cardiological and neurological abnormalities due to filamin A gene mutation. 6
20730588 2011
14
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. 6
20598277 2010
15
A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation. 6
17264970 2007
16
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 6
16684786 2006
17
Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. 6
16596676 2006
18
Periventricular heterotopia: new insights into Ehlers-Danlos syndrome. 6
16303888 2005
19
Filamin A: phenotypic diversity. 6
15917206 2005
20
Molecular pathology of filamin A: diverse phenotypes, many functions. 6
15194946 2004
21
Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families. 57
12503106 2003
22
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. 57
10706363 2000
23
Esophageal atresia with distal tracheoesophageal fistula in a patient with fronto-metaphyseal dysplasia. 57
9375915 1997
24
CT and MR findings in frontometaphyseal dysplasia. 6
9071288 1997
25
Frontometaphyseal dysplasia: neonatal radiographic diagnosis. 57
7645585 1995
26
Fronto-metaphyseal dysplasia. Further delineation of the clinical syndrome. 57
7151303 1982
27
Frontometaphyseal dysplasia: autosomal dominant or X-linked? 57
7189217 1980
28
Frontometaphyseal dysplasia--evidence for X-linked inheritance. 57
7395904 1980
29
Frontometaphyseal dysplasia presenting as scoliosis. 57
649644 1978
30
Frontometaphyseal dysplasia: evidence for autosomal dominant inheritance. 57
998829 1976
31
Frontometaphyseal Dysplasia. Evidence for dominant inheritance. 57
1258835 1976
32
[Fronto-metaphyseal dysplasia]. 57
1094899 1975
33
Frontometaphyseal dysplasia. 57
5044403 1972
34
Fronto-metaphyseal dysplasia. A progressive disease of bone and connective tissue. 57
5026209 1972
35
Frontometaphyseal dysplasia. A new syndrome. 57
5807657 1969
36
Frontometaphyseal dysplasia 1 in a patient from Sri Lanka. 61
33372358 2021
37
3D-printed, patient-specific intracranial aneurysm models: From clinical data to flow experiments with endovascular devices. 61
33428778 2021
38
Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1. 61
33718301 2021
39
Genetic investigation of formaldehyde-induced DNA damage response in Schizosaccharomyces pombe. 61
32034465 2020
40
Identification and pathogenicity analysis of Streptococcus equinus FMD1, a beta-hemolytic strain isolated from forest musk deer lung. 61
31902837 2020
41
[Effect of 6-month therapy with perindopril A on structural-functional state of arterial vascular bed in patients with chronic heart failure]. 61
24888193 2014
42
Transient endothelial dysfunction following flow-mediated dilation assessment. 61
21153030 2011
43
X-Linked Otopalatodigital Spectrum Disorders 61
20301567 2005

Variations for Frontometaphyseal Dysplasia 1

ClinVar genetic disease variations for Frontometaphyseal Dysplasia 1:

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

UniProtKB/Swiss-Prot genetic disease variations for Frontometaphyseal Dysplasia 1:

72
# Symbol AA change Variation ID SNP ID
1 FLNA p.Asp1159Ala VAR_015702 rs28935471
2 FLNA p.Ser1186Leu VAR_015721 rs137853312
3 FLNA p.Gly1728Cys VAR_031312 rs137853316

Expression for Frontometaphyseal Dysplasia 1

Search GEO for disease gene expression data for Frontometaphyseal Dysplasia 1.

Pathways for Frontometaphyseal Dysplasia 1

GO Terms for Frontometaphyseal Dysplasia 1

Cellular components related to Frontometaphyseal Dysplasia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.02 PROM2 KLHL24 FLNA CYLD CCDC65

Sources for Frontometaphyseal Dysplasia 1

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
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