FMD1
MCID: FRN049
MIFTS: 27

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

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 short chin 33 HP:0000331
30 hirsutism 33 HP:0001007
31 selective tooth agenesis 33 HP:0001592
32 long foot 33 HP:0001833
33 anteriorly placed odontoid process 33 HP:0004608
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 689)
# Gene Variation Type Significance SNP ID Assembly Location
1 FLNA NM_001110556.1(FLNA): c.3476A> C (p.Asp1159Ala) single nucleotide variant Pathogenic rs28935471 GRCh37 Chromosome X, 153588687: 153588687
2 FLNA NM_001110556.1(FLNA): c.3476A> C (p.Asp1159Ala) single nucleotide variant Pathogenic rs28935471 GRCh38 Chromosome X, 154360319: 154360319
3 FLNA NM_001110556.1(FLNA): c.3557C> T (p.Ser1186Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137853312 GRCh37 Chromosome X, 153588606: 153588606
4 FLNA NM_001110556.1(FLNA): c.3557C> T (p.Ser1186Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137853312 GRCh38 Chromosome X, 154360238: 154360238
5 FLNA NM_001110556.1(FLNA): c.586C> T (p.Arg196Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853317 GRCh37 Chromosome X, 153596246: 153596246
6 FLNA NM_001110556.1(FLNA): c.586C> T (p.Arg196Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853317 GRCh38 Chromosome X, 154367878: 154367878
7 FLNA NM_001110556.1(FLNA): c.1286C> T (p.Thr429Met) single nucleotide variant Benign/Likely benign rs36051194 GRCh37 Chromosome X, 153594535: 153594535
8 FLNA NM_001110556.1(FLNA): c.1286C> T (p.Thr429Met) single nucleotide variant Benign/Likely benign rs36051194 GRCh38 Chromosome X, 154366167: 154366167
9 FLNA NM_001110556.1(FLNA): c.1429+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs202181557 GRCh37 Chromosome X, 153594384: 153594384
10 FLNA NM_001110556.1(FLNA): c.1429+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs202181557 GRCh38 Chromosome X, 154366016: 154366016
11 FLNA NM_001110556.1(FLNA): c.3035C> T (p.Ser1012Leu) single nucleotide variant Benign/Likely benign rs17091204 GRCh37 Chromosome X, 153589848: 153589848
12 FLNA NM_001110556.1(FLNA): c.3035C> T (p.Ser1012Leu) single nucleotide variant Benign/Likely benign rs17091204 GRCh38 Chromosome X, 154361480: 154361480
13 FLNA NM_001456.3(FLNA): c.3147C> T (p.Gly1049=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123615 GRCh37 Chromosome X, 153589736: 153589736
14 FLNA NM_001456.3(FLNA): c.3147C> T (p.Gly1049=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123615 GRCh38 Chromosome X, 154361368: 154361368
15 FLNA NM_001110556.1(FLNA): c.3323G> A (p.Cys1108Tyr) single nucleotide variant Uncertain significance rs371677498 GRCh37 Chromosome X, 153588840: 153588840
16 FLNA NM_001110556.1(FLNA): c.3323G> A (p.Cys1108Tyr) single nucleotide variant Uncertain significance rs371677498 GRCh38 Chromosome X, 154360472: 154360472
17 FLNA NM_001456.3(FLNA): c.3379G> A (p.Val1127Met) single nucleotide variant Conflicting interpretations of pathogenicity rs398123617 GRCh37 Chromosome X, 153588784: 153588784
18 FLNA NM_001456.3(FLNA): c.3379G> A (p.Val1127Met) single nucleotide variant Conflicting interpretations of pathogenicity rs398123617 GRCh38 Chromosome X, 154360416: 154360416
19 FLNA NM_001456.3(FLNA): c.4263C> T (p.Thr1421=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123618 GRCh37 Chromosome X, 153587654: 153587654
20 FLNA NM_001456.3(FLNA): c.4263C> T (p.Thr1421=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123618 GRCh38 Chromosome X, 154359286: 154359286
21 FLNA NM_001110556.1(FLNA): c.4920G> A (p.Gly1640=) single nucleotide variant Benign rs61741041 GRCh37 Chromosome X, 153585827: 153585827
22 FLNA NM_001110556.1(FLNA): c.4920G> A (p.Gly1640=) single nucleotide variant Benign rs61741041 GRCh38 Chromosome X, 154357459: 154357459
23 FLNA NM_001110556.1(FLNA): c.5290G> A (p.Ala1764Thr) single nucleotide variant Benign rs57108893 GRCh37 Chromosome X, 153583007: 153583007
24 FLNA NM_001110556.1(FLNA): c.5290G> A (p.Ala1764Thr) single nucleotide variant Benign rs57108893 GRCh38 Chromosome X, 154354639: 154354639
25 FLNA NM_001456.3(FLNA): c.5948C> T (p.Ser1983Leu) single nucleotide variant Benign/Likely benign rs187029309 GRCh37 Chromosome X, 153581714: 153581714
26 FLNA NM_001456.3(FLNA): c.5948C> T (p.Ser1983Leu) single nucleotide variant Benign/Likely benign rs187029309 GRCh38 Chromosome X, 154353346: 154353346
27 FLNA NM_001456.3(FLNA): c.6618G> C (p.Val2206=) single nucleotide variant Benign rs1064822 GRCh37 Chromosome X, 153580676: 153580676
28 FLNA NM_001456.3(FLNA): c.6618G> C (p.Val2206=) single nucleotide variant Benign rs1064822 GRCh38 Chromosome X, 154352308: 154352308
29 FLNA NM_001110556.1(FLNA): c.663C> T (p.Pro221=) single nucleotide variant Benign rs2073470 GRCh37 Chromosome X, 153596066: 153596066
30 FLNA NM_001110556.1(FLNA): c.663C> T (p.Pro221=) single nucleotide variant Benign rs2073470 GRCh38 Chromosome X, 154367698: 154367698
31 FLNA NM_001110556.1(FLNA): c.6742C> T (p.Leu2248=) single nucleotide variant Benign/Likely benign rs113510895 GRCh37 Chromosome X, 153580576: 153580576
32 FLNA NM_001110556.1(FLNA): c.6742C> T (p.Leu2248=) single nucleotide variant Benign/Likely benign rs113510895 GRCh38 Chromosome X, 154352208: 154352208
33 FLNA NM_001456.3(FLNA): c.869-7C> T single nucleotide variant Benign rs143311779 GRCh37 Chromosome X, 153595225: 153595225
34 FLNA NM_001456.3(FLNA): c.869-7C> T single nucleotide variant Benign rs143311779 GRCh38 Chromosome X, 154366857: 154366857
35 FLNA NM_001456.3(FLNA): c.882A> G (p.Thr294=) single nucleotide variant Benign rs184864998 GRCh37 Chromosome X, 153595205: 153595205
36 FLNA NM_001456.3(FLNA): c.882A> G (p.Thr294=) single nucleotide variant Benign rs184864998 GRCh38 Chromosome X, 154366837: 154366837
37 FLNA NM_001456.3(FLNA): c.1239G> A (p.Thr413=) single nucleotide variant Conflicting interpretations of pathogenicity rs200278701 GRCh37 Chromosome X, 153594582: 153594582
38 FLNA NM_001456.3(FLNA): c.1239G> A (p.Thr413=) single nucleotide variant Conflicting interpretations of pathogenicity rs200278701 GRCh38 Chromosome X, 154366214: 154366214
39 FLNA NM_001456.3(FLNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202029322 GRCh37 Chromosome X, 153593616: 153593616
40 FLNA NM_001456.3(FLNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202029322 GRCh38 Chromosome X, 154365248: 154365248
41 FLNA NM_001456.3(FLNA): c.3045G> A (p.Ala1015=) single nucleotide variant Conflicting interpretations of pathogenicity rs370868704 GRCh37 Chromosome X, 153589838: 153589838
42 FLNA NM_001456.3(FLNA): c.3045G> A (p.Ala1015=) single nucleotide variant Conflicting interpretations of pathogenicity rs370868704 GRCh38 Chromosome X, 154361470: 154361470
43 FLNA NM_001110556.1(FLNA): c.1176G> A (p.Glu392=) single nucleotide variant Benign/Likely benign rs201173693 GRCh37 Chromosome X, 153594728: 153594728
44 FLNA NM_001110556.1(FLNA): c.1176G> A (p.Glu392=) single nucleotide variant Benign/Likely benign rs201173693 GRCh38 Chromosome X, 154366360: 154366360
45 FLNA NM_001456.3(FLNA): c.1691+7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs199565118 GRCh37 Chromosome X, 153593497: 153593497
46 FLNA NM_001456.3(FLNA): c.1691+7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs199565118 GRCh38 Chromosome X, 154365129: 154365129
47 FLNA NM_001456.3(FLNA): c.1968C> T (p.Leu656=) single nucleotide variant Benign rs73638274 GRCh37 Chromosome X, 153592948: 153592948
48 FLNA NM_001456.3(FLNA): c.1968C> T (p.Leu656=) single nucleotide variant Benign rs73638274 GRCh38 Chromosome X, 154364580: 154364580
49 FLNA NM_001456.3(FLNA): c.2178C> T (p.Asn726=) single nucleotide variant Conflicting interpretations of pathogenicity rs371501734 GRCh37 Chromosome X, 153592492: 153592492
50 FLNA NM_001456.3(FLNA): c.2178C> T (p.Asn726=) single nucleotide variant Conflicting interpretations of pathogenicity rs371501734 GRCh38 Chromosome X, 154364124: 154364124

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

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