MCID: FRN049
MIFTS: 31

Frontometaphyseal Dysplasia 1

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

Aliases & Classifications for Frontometaphyseal Dysplasia 1

MalaCards integrated aliases for Frontometaphyseal Dysplasia 1:

Name: Frontometaphyseal Dysplasia 1 53 71
Fmd1 53 71
Fmd 53 71

Characteristics:

OMIM:

53
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 : 53 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, and has symptoms including stridor, hypertelorism and genu valgum. An important gene associated with Frontometaphyseal Dysplasia 1 is FLNA (Filamin A). Affiliated tissues include kidney, heart and bone.

UniProtKB/Swiss-Prot : 71 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 13)
# Related Disease Score Top Affiliating Genes
1 fibromuscular dysplasia 12.0
2 frontometaphyseal dysplasia 11.6
3 otopalatodigital syndrome, type i 11.1
4 facioscapulohumeral muscular dystrophy 1 11.1
5 otopalatodigital syndrome, type ii 11.0
6 melnick-needles syndrome 11.0
7 coronary artery dissection, spontaneous 10.9
8 frontometaphyseal dysplasia 2 10.9
9 mouth disease 10.3
10 aneurysm 10.0
11 blood group, i system 9.9
12 ischemia 9.9
13 familial hypertension 9.9

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



Diseases related to Frontometaphyseal Dysplasia 1

Symptoms & Phenotypes for Frontometaphyseal Dysplasia 1

Symptoms via clinical synopsis from OMIM:

53
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

Cardiovascular Heart:
mitral valve prolapse

Genitourinary Ureters:
hydroureter

Skeletal Feet:
large feet
partial fusion of tarsals

Chest RibsSternum 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

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

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

Human phenotypes related to Frontometaphyseal Dysplasia 1:

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

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:

38
Kidney, Heart, Bone, Skeletal Muscle

Publications for Frontometaphyseal Dysplasia 1

Articles related to Frontometaphyseal Dysplasia 1:

(show all 15)
# Title Authors Year
1
Fibromuscular dysplasia (FMD). ( 28367730 )
2017
2
Concurrent vaccination of goats with foot and mouth disease (FMD) and peste des petits ruminants (PPR) booster vaccines. ( 28940134 )
2017
3
Cutting Balloon Angioplasty (CBA) for the Treatment of Renal Artery Fibromuscular Dysplasia (FMD) in Six Patients: 5-Year Long-Term Results. ( 28035431 )
2016
4
Dissection and Aneurysm in Patients WithA Fibromuscular Dysplasia: Findings From the U.S. Registry for FMD. ( 27386771 )
2016
5
Is fibromuscular dysplasia underdiagnosed? A comparison of the prevalence of FMD seen in CORAL trial participants versus a single institution population of renal donor candidates. ( 25082538 )
2014
6
Novel immunogenic baculovirus expressed virus-like particles of foot-and-mouth disease (FMD) virus protect guinea pigs against challenge. ( 23969204 )
2013
7
Surveillance of foot-and-mouth disease (FMD) in susceptible wildlife and domestic ungulates in Southeast of Bulgaria following a FMD case in wild boar. ( 23830685 )
2013
8
Association of BoLA DRB3 alleles with variability in immune response among the crossbred cattle vaccinated for foot-and-mouth disease (FMD). ( 23541924 )
2013
9
Vaccination against foot-and-mouth disease II: Regaining FMD-free status. ( 22726463 )
2012
10
A case of mesenteric ischemia secondary to Fibromuscular Dysplasia (FMD) with a positive outcome after intervention. ( 23687610 )
2012
11
Foot and mouth disease (FMD) virus: quantification of whole virus particles during the vaccine manufacturing process by size exclusion chromatography. ( 21651939 )
2011
12
Medical image. A rare case of brachial artery fibromuscular dysplasia (FMD). ( 21946972 )
2011
13
Renal FMD may not confer a familial hypertensive risk nor is it caused by ACTA2 mutations. ( 21553326 )
2011
14
Help get the right diagnosis for fibromuscular dysplasia. FMD is an often-misunderstood disease that can cause serious medical complications, such as aneurysms and other vascular damage. ( 22787710 )
2010
15
Symptoms of a stroke in a 41-year-old woman. Fibromuscular dysplasia (FMD). ( 17601222 )
2007

Variations for Frontometaphyseal Dysplasia 1

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

71
# 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
# 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.3557C> T (p.Ser1186Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137853312 GRCh37 Chromosome X, 153588606: 153588606
3 FLNA NM_001456.3(FLNA): c.3668C> T (p.Pro1223Leu) single nucleotide variant Pathogenic rs1060500716 GRCh38 Chromosome X, 154360127: 154360127
4 FLNA NM_001456.3(FLNA): c.5964_5965delCT (p.Cys1989Phefs) deletion Pathogenic rs1060500718 GRCh38 Chromosome X, 154353329: 154353330
5 FLNA NM_001456.3(FLNA): c.4143-1G> T single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 154359407: 154359407
6 FLNA NM_001456.3(FLNA): c.4840_4852delGGTCGCTACACCA (p.Gly1614Serfs) deletion Pathogenic GRCh38 Chromosome X, 154357527: 154357539
7 FLNA NM_001110556.1(FLNA): c.999_1008dup (p.Asp337Argfs) duplication Pathogenic GRCh37 Chromosome X, 153594987: 153594996
8 FLNA NM_001456.3(FLNA): c.4596_4598+5del deletion Likely pathogenic GRCh38 Chromosome X, 154358440: 154358447

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

Sources for Frontometaphyseal Dysplasia 1

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70 UMLS via Orphanet
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