FMD1
MCID: FRN049
MIFTS: 28

Frontometaphyseal Dysplasia 1 (FMD1)

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

Aliases & Classifications for Frontometaphyseal Dysplasia 1

MalaCards integrated aliases for Frontometaphyseal Dysplasia 1:

Name: Frontometaphyseal Dysplasia 1 58 76
Fmd1 58 76
Fmd 58 76

Characteristics:

OMIM:

58
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:

33
frontometaphyseal dysplasia 1:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Frontometaphyseal Dysplasia 1

OMIM : 58 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)

MalaCards based summary : Frontometaphyseal Dysplasia 1, also known as fmd1, is related to fibromuscular dysplasia and frontometaphyseal dysplasia. An important gene associated with Frontometaphyseal Dysplasia 1 is FLNA (Filamin A). Affiliated tissues include kidney, heart and bone, and related phenotypes are hypertelorism and genu valgum

UniProtKB/Swiss-Prot : 76 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 all 23)
# Related Disease Score Top Affiliating Genes
1 fibromuscular dysplasia 12.2
2 frontometaphyseal dysplasia 11.8
3 otopalatodigital syndrome, type i 11.3
4 facioscapulohumeral muscular dystrophy 1 11.2
5 otopalatodigital syndrome, type ii 11.2
6 melnick-needles syndrome 11.2
7 coronary artery dissection, spontaneous 11.0
8 frontometaphyseal dysplasia 2 11.0
9 mouth disease 10.7
10 arteries, anomalies of 10.0
11 systemic lupus erythematosus 10.0
12 myoclonic-atonic epilepsy 10.0
13 coronary artery anomaly 10.0
14 follicular lymphoma 10.0
15 lymphoma 10.0
16 mastitis 10.0
17 ischemia 10.0
18 movement disease 10.0
19 lupus erythematosus 10.0
20 keratoconjunctivitis 10.0
21 polymyositis 10.0
22 reversible cerebral vasoconstriction syndrome 10.0
23 cytophagic histiocytic panniculitis 10.0

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:

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures

Head And Neck Mouth:
high palate

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

Skeletal Pelvis:
coxa valga
flared pelvis

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

Genitourinary Ureters:
hydroureter

Skeletal Feet:
large feet
partial fusion of tarsals

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

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

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

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

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

Skeletal Spine:
scoliosis
anteriorly placed odontoid process
wide interpedicular distance
cervical vertebral fusion

Head And Neck Nose:
wide nasal bridge

Cardiovascular Heart:
mitral valve prolapse

Genitourinary Kidneys:
hydronephrosis

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

Neurologic Central Nervous System:
mental retardation

Respiratory Airways:
congenital stridor
subglottic tracheal narrowing

Respiratory Lung:
cor pulmonale

Skin Nails Hair Hair:
hirsutism of buttocks and thighs

Clinical features from OMIM:

305620

Drugs & Therapeutics for Frontometaphyseal Dysplasia 1

Search Clinical Trials , NIH Clinical Center for Frontometaphyseal Dysplasia 1

Genetic Tests for Frontometaphyseal Dysplasia 1

Anatomical Context for Frontometaphyseal Dysplasia 1

MalaCards organs/tissues related to Frontometaphyseal Dysplasia 1:

42
Kidney, Heart, Bone, Skeletal Muscle

Publications for Frontometaphyseal Dysplasia 1

Variations for Frontometaphyseal Dysplasia 1

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

76
# 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

ClinVar genetic disease variations for Frontometaphyseal Dysplasia 1:

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

Expression for Frontometaphyseal Dysplasia 1

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Pathways for Frontometaphyseal Dysplasia 1

GO Terms for Frontometaphyseal Dysplasia 1

Sources for Frontometaphyseal Dysplasia 1

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