MCID: FRN049
MIFTS: 25

Frontometaphyseal Dysplasia 1

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

Aliases & Classifications for Frontometaphyseal Dysplasia 1

MalaCards integrated aliases for Frontometaphyseal Dysplasia 1:

Name: Frontometaphyseal Dysplasia 1 54 71
Fmd1 71
Fmd 71

Characteristics:

OMIM:

54
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:

32
frontometaphyseal dysplasia 1:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Frontometaphyseal Dysplasia 1

OMIM : 54
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 scoliosis, hirsutism and coarse facial features. An important gene associated with Frontometaphyseal Dysplasia 1 is FLNA (Filamin A). Affiliated tissues include heart, kidney 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 2 Frontometaphyseal Dysplasia 1

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

(show all 12)
id Related Disease Score Top Affiliating Genes
1 fibromuscular dysplasia 11.9
2 frontometaphyseal dysplasia 11.5
3 otopalatodigital syndrome, type i 11.0
4 otopalatodigital syndrome, type ii 10.9
5 melnick-needles syndrome 10.9
6 facioscapulohumeral muscular dystrophy 1 10.8
7 frontometaphyseal dysplasia 2 10.7
8 coronary artery dissection, spontaneous 10.7
9 mouth disease 10.2
10 aneurysm 9.9
11 ischemia 9.8
12 familial hypertension 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

Symptoms via clinical synopsis from OMIM:

54

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

Neurologic- Central Nervous System:
mental retardation

Skeletal- Pelvis:
coxa valga
flared pelvis

Genitourinary- Kidneys:
hydronephrosis

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

Cardiovascular- Heart:
mitral valve prolapse

Genitourinary- Ureters:
hydroureter

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

Respiratory- Lung:
cor pulmonale

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

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

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

Head And Neck- Eyes:
downslanting palpebral fissures
hypertelorism

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

Head And Neck- Nose:
wide nasal bridge

Head And Neck- Mouth:
high palate

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

Skeletal- Feet:
large feet
partial fusion of tarsals

Respiratory- Airways:
congenital stridor
subglottic tracheal narrowing

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

Skin Nails & Hair- Hair:
hirsutism of buttocks and thighs


Clinical features from OMIM:

305620

Human phenotypes related to Frontometaphyseal Dysplasia 1:

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

39
Heart, Kidney, Bone, Skeletal Muscle

Publications for Frontometaphyseal Dysplasia 1

Variations for Frontometaphyseal Dysplasia 1

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

71
id 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
id 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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