MNS
MCID: MLN014
MIFTS: 58

Melnick-Needles Syndrome (MNS)

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

Aliases & Classifications for Melnick-Needles Syndrome

MalaCards integrated aliases for Melnick-Needles Syndrome:

Name: Melnick-Needles Syndrome 57 12 73 20 43 58 72 29 13 54 6 15 39 70
Melnick-Needles Osteodysplasty 57 12 20 43 58
Mns 57 12 20 43 72
Osteodysplasty of Melnick and Needles 57 12 20 43
Osteochondrodysplasias 44

Characteristics:

Orphanet epidemiological data:

58
melnick-needles syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

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

Miscellaneous:
otopalatodigital syndrome type i (opd1, ) is an allelic disorder
otopalatodigital syndrome type ii (opd2, ) is an allelic disorder
frontometaphyseal dysplasia (fmd, ) is an allelic disorder
periventricular heterotopia is an allelic disorder
fifty percent of cases secondary to new mutations
males born to affected females are stillborn with exophthalmos, omphalocele, thin calvaria, curved long bones, and hypoplastic/absence thumbs and halluces
affected males who survive are secondary to new mutations


HPO:

31
melnick-needles syndrome:
Onset and clinical course stillbirth
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Melnick-Needles Syndrome

MedlinePlus Genetics : 43 Melnick-Needles syndrome is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, frontometaphyseal dysplasia, and terminal osseous dysplasia. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits).Melnick-Needles syndrome is usually the most severe of the otopalatodigital spectrum disorders. People with this condition are usually of short stature, have an abnormal curvature of the spine (scoliosis), partial dislocation (subluxation) of certain joints, and unusually long fingers and toes. They may have bowed limbs; underdeveloped, irregular ribs that can cause problems with breathing; and other abnormal or absent bones.Characteristic facial features may include bulging eyes with prominent brow ridges, excess hair growth on the forehead, round cheeks, a very small lower jaw and chin (micrognathia), and misaligned teeth. One side of the face may appear noticeably different from the other (facial asymmetry). Some individuals with this disorder have hearing loss.In addition to skeletal abnormalities, individuals with Melnick-Needles syndrome may have obstruction of the ducts between the kidneys and bladder (ureters) or heart defects.Males with Melnick-Needles syndrome generally have much more severe signs and symptoms than do females, and in almost all cases die before or soon after birth.

MalaCards based summary : Melnick-Needles Syndrome, also known as melnick-needles osteodysplasty, is related to otopalatodigital syndrome, type i and otopalatodigital syndrome, type ii, and has symptoms including hoarseness An important gene associated with Melnick-Needles Syndrome is FLNA (Filamin A), and among its related pathways/superpathways is Miscellaneous transport and binding events. The drugs Vaccines and Valproic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and bone marrow, and related phenotypes are hypertelorism and prominent supraorbital ridges

Disease Ontology : 12 An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has material basis in heterozygous or hemizygous mutation in FLNA on chromosome Xq28.

GARD : 20 Melnick-Needles syndrome is a rare disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which typically involve hearing loss caused by malformations in the tiny bones in the ears ( ossicles ), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits). Melnick-Needles syndrome is usually the most severe of the otopalatodigital spectrum disorders and males with this condition generally have more severe signs and symptoms than females. In almost all instances, males with Melnick-Needles syndrome die before or soon after birth. The signs and symptoms of this condition may include: short stature, various skeletal abnormalities, characteristic facial features, and abnormalities of the heart and/or kidneys. This condition is caused by mutations in the FLNA gene, and it is inherited in an X-linked dominant manner. Although there is no specific treatment or cure for Melnick-Needles syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options for each person.

OMIM® : 57 Melnick-Needles syndrome is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. These disorders, including frontometaphyseal dysplasia (FMD; 305620), otopalatodigital syndrome-1 (OPD1; 311300), and otopalatodigital syndrome-2 (OPD2; 304120), 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. FMD 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 called 'fronto-otopalatodigital osteodysplasia.' (309350) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Melnick-Needles syndrome: Severe congenital bone disorder characterized by typical facies (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of bones of legs, irregular constrictions in the ribs, and sclerosis of base of skull.

Wikipedia : 73 Melnick-Needles syndrome (MNS), also known as Melnick-Needles osteodysplasty, is an extremely rare... more...

Related Diseases for Melnick-Needles Syndrome

Diseases related to Melnick-Needles Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 244)
# Related Disease Score Top Affiliating Genes
1 otopalatodigital syndrome, type i 32.9 FLNB FLNA
2 otopalatodigital syndrome, type ii 32.7 LOC107988032 FLNB FLNA
3 frontometaphyseal dysplasia 32.6 LOC107988032 FLNB FLNA
4 terminal osseous dysplasia 32.4 LOC107988032 FLNA
5 frontometaphyseal dysplasia 1 32.3 LOC107988032 FLNA
6 boomerang dysplasia 30.8 FLNB FLNA
7 atelosteogenesis 30.8 FLNB FLNA
8 periventricular nodular heterotopia 30.6 LOC107988032 FLNB FLNA
9 skeletal dysplasias 30.5 FLNB FLNA
10 carrion's disease 30.3 GYPB GYPA
11 frank-ter haar syndrome 11.7
12 short rib-polydactyly syndrome 11.0
13 multiple epiphyseal dysplasia 10.9
14 exophthalmos 10.5
15 x-linked otopalatodigital spectrum disorders 10.5
16 hajdu-cheney syndrome 10.4
17 intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked 10.4 LOC107988032 FLNA
18 flna-related periventricular nodular heterotopia 10.4 LOC107988032 FLNA
19 fg syndrome 2 10.4 LOC107988032 FLNA
20 periventricular nodular heterotopia 1 10.4 LOC107988032 FLNA
21 sleep apnea 10.4
22 brittle bone disorder 10.4
23 hemoglobin c disease 10.4 RHCE GYPB
24 rh isoimmunization 10.3 RHD RHCE FYB1
25 neonatal anemia 10.3 RHD RHCE KEL
26 hypertelorism 10.3
27 craniometaphyseal dysplasia, autosomal dominant 10.3
28 metaphyseal dysplasia 10.3
29 glutamate-cysteine ligase deficiency 10.3 RHD RHCE RHAG
30 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 3 10.3 RHAG GYPA
31 glucosephosphate dehydrogenase deficiency 10.3 PGM1 FYB1 FREM3
32 inclusion body myopathy with paget disease of bone and frontotemporal dementia 10.3 RHAG GYPB GYPA
33 fetal erythroblastosis 10.3 RHD RHCE KEL GYPA
34 cardiac valvular dysplasia, x-linked 10.2 LOC107988032 FLNA
35 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 10.2 RHAG GYPA
36 branchiootic syndrome 1 10.2
37 omphalocele 10.2
38 lung disease 10.2
39 thanatophoric dysplasia, type i 10.2
40 hereditary stomatocytosis 10.2 RHAG ADD2 ADD1
41 hemolytic disease due to fetomaternal alloimmunization 10.2
42 blood group incompatibility 10.2 RHD RHCE KEL FYB1 A4GALT
43 rh deficiency syndrome 10.2 RHD RHCE RHAG GYPB GYPA
44 primary thrombocytopenia 10.2 RHD RHCE
45 spondyloepiphyseal dysplasia with congenital joint dislocations 10.2
46 achondrogenesis 10.2
47 hereditary spherocytosis 10.1 RHD RHAG GYPB GYPA ADD2
48 pycnodysostosis 10.1
49 osteopetrosis 10.1
50 apnea, obstructive sleep 10.1

Graphical network of the top 20 diseases related to Melnick-Needles Syndrome:



Diseases related to Melnick-Needles Syndrome

Symptoms & Phenotypes for Melnick-Needles Syndrome

Human phenotypes related to Melnick-Needles Syndrome:

58 31 (show top 50) (show all 63)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 prominent supraorbital ridges 58 31 hallmark (90%) Very frequent (99-80%) HP:0000336
3 bowing of the long bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0006487
4 abnormal cortical bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0003103
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
7 short thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0010306
8 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
9 proptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000520
10 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
11 delayed cranial suture closure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000270
12 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
13 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
14 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
15 craniofacial hyperostosis 58 31 frequent (33%) Frequent (79-30%) HP:0004493
16 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
17 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
18 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
19 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
20 abnormal cardiac septum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001671
21 vesicoureteral reflux 58 31 frequent (33%) Frequent (79-30%) HP:0000076
22 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
23 abnormality of the ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000772
24 hip dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0002827
25 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
26 short distal phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009882
27 coxa valga 58 31 frequent (33%) Frequent (79-30%) HP:0002673
28 misalignment of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000692
29 short clavicles 58 31 frequent (33%) Frequent (79-30%) HP:0000894
30 cone-shaped epiphyses of the phalanges of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0010230
31 anisospondyly 58 31 frequent (33%) Frequent (79-30%) HP:0002879
32 abnormality of the pubic bone 58 31 frequent (33%) Frequent (79-30%) HP:0003172
33 osteolytic defects of the phalanges of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0009771
34 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
35 omphalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0001539
36 failure to thrive 31 HP:0001508
37 gait disturbance 31 HP:0001288
38 macrotia 31 HP:0000400
39 pes planus 31 HP:0001763
40 coarse hair 31 HP:0002208
41 genu valgum 31 HP:0002857
42 strabismus 31 HP:0000486
43 cleft palate 31 HP:0000175
44 recurrent otitis media 31 HP:0000403
45 pectus excavatum 31 HP:0000767
46 motor delay 31 HP:0001270
47 mitral valve prolapse 31 HP:0001634
48 talipes equinovarus 31 HP:0001762
49 kyphoscoliosis 31 HP:0002751
50 hoarse voice 31 HP:0001609

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Respiratory:
recurrent respiratory infections

Skin Nails Hair Hair:
coarse hair

Head And Neck Mouth:
cleft palate

Head And Neck Ears:
recurrent otitis media
large ears

Cardiovascular Heart:
mitral valve prolapse
tricuspid valve prolapse
noncompaction of ventricular myocardium

Genitourinary Kidneys:
hydronephrosis

Voice:
hoarse voice

Head And Neck Neck:
long neck

Respiratory Lung:
pulmonary hypertension

Skeletal Hands:
cone-shaped epiphyses
acroosteolysis
short distal phalanges

Chest External Features:
narrow shoulders

Abdomen External Features:
omphalocele (males)

Skin Nails Hair Skin:
hirsute forehead
skin hyperlaxity (males)

Head And Neck Eyes:
hypertelorism
strabismus
exophthalmos

Skeletal Feet:
pes planus
club feet

Skeletal Limbs:
genu valgum
limited elbow extension
short upper arms
bowing of humerus
bowing of radius
more
Head And Neck Face:
micrognathia
small face
prominent hirsute forehead
full cheek
prominent supraorbital ridge

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
short clavicles
irregular ribbon-like ribs
short scapulae

Skeletal Spine:
kyphoscoliosis
anterior concavity of thoracic vertebrae
tall vertebrae

Skeletal Pelvis:
hip dislocation
coxa valga
iliac flaring

Genitourinary Ureters:
ureteral stenosis

Neurologic Central Nervous System:
abnormal gait
delayed motor development

Head And Neck Teeth:
delayed tooth eruption
malaligned teeth

Head And Neck Head:
delayed closure of fontanel

Growth Height:
short to normal stature

Skeletal Skull:
small mandible with obtuse angle
hypoplastic coronoid process
dense skull base
delayed paranasal sinus development

Clinical features from OMIM®:

309350 (Updated 05-Apr-2021)

UMLS symptoms related to Melnick-Needles Syndrome:


hoarseness

Drugs & Therapeutics for Melnick-Needles Syndrome

Drugs for Melnick-Needles Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4
2
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
3
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 11128-99-7, 4474-91-3 172198
4
Losartan Approved Phase 2 114798-26-4 3961
5 Psychotropic Drugs Phase 2
6 Anticonvulsants Phase 2
7 Neurotransmitter Agents Phase 2
8 Histone Deacetylase Inhibitors Phase 2
9 Giapreza Phase 2
10 Angiotensin II Type 1 Receptor Blockers Phase 2
11 Angiotensin Receptor Antagonists Phase 2
12 Angiotensinogen Phase 2
13 Antihypertensive Agents Phase 2
14 Anti-Arrhythmia Agents Phase 2
15 Anesthetics Phase 2
16 Pharmaceutical Solutions

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 Immunodeficiency in Cartilage-hair Hypoplasia: Correlation With Pulmonary Disease, Infections and Malignancy Active, not recruiting NCT02383797 Phase 4
2 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
3 A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01415427 Phase 3 BMN 110 - Weekly;BMN 110 - Every Other Week
4 Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial Completed NCT01619644 Phase 2 sodium valproate;Placebo
5 A Randomized Clinical Trial to Evaluate the Effects of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI Recruiting NCT03632213 Phase 2 Losartan;Placebo
6 Scleral Buckling for Retinal Detachment Prevention in Genetically Confirmed Stickler Syndrome : a Randomized Controlled Trial Not yet recruiting NCT04465188 Phase 2
7 Stromal Therapy of Osteodysplasia After Allogeneic Bone Marrow Transplantation: A Phase I Study Completed NCT00186914 Phase 1
8 Physical Activity, Motor Competence, Pulmonary Function, and Quality of Life in Children With Severe Spinal Disease Unknown status NCT03494829
9 Identification of New Genes Involved in the Taybi-Linder Syndrome. Unknown status NCT03222947
10 Clinical and Molecular Manifestations of Human Skeletal Dysplasias and Short Stature Completed NCT00001754
11 Psychological Concomitants of Morquio Syndrome Completed NCT01752296
12 The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII). Completed NCT03139903
13 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Morquio Disease Completed NCT03872713
14 Longitudinal Studies of Brain Structure and Function in MPS Disorders Completed NCT01870375
15 Pregnancy With Morquio Syndrome - What Are Patients' Perspectives and Has ERT Changed Them? Completed NCT03150069
16 Gait Analysis in Patients With MPS IVA Treated With Enzyme Replacement Therapy Completed NCT01920828
17 Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease Completed NCT01707433
18 Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy Completed NCT02208661
19 Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome Type A and Maroteaux-Lamy Syndrome Completed NCT01961518
20 A Multicenter, Multinational, Observational Morquio A Registry Study (MARS) Recruiting NCT02294877 Vimizim® (elosulfase alfa)
21 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
22 Biomarker for Morquio Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT01457456
23 Natural History of Atypical Morquio A Disease: a 5-years Prospective Study in a Series of 9 Adult Patients Followed in a Single Expert Center Active, not recruiting NCT03204370 Elosulfase Alfa 1 MG/ML Intravenous Solution [VIMIZIM]
24 North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 Enrolling by invitation NCT03548779
25 Identification and Characterization of Bone-related Genetic Variants in Families Terminated NCT02762318
26 A Multicenter, Multinational, Longitudinal Clinical Assessment Study of Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome) Terminated NCT00787995
27 Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in the Pediatric Rheumatology Population Terminated NCT01675674
28 Dynamic Gait Analysis in Children With Mucopolysaccharidosis Type IVa Withdrawn NCT02153255

Search NIH Clinical Center for Melnick-Needles Syndrome

Cochrane evidence based reviews: osteochondrodysplasias

Genetic Tests for Melnick-Needles Syndrome

Genetic tests related to Melnick-Needles Syndrome:

# Genetic test Affiliating Genes
1 Melnick-Needles Syndrome 29 FLNA

Anatomical Context for Melnick-Needles Syndrome

MalaCards organs/tissues related to Melnick-Needles Syndrome:

40
Eye, Bone, Bone Marrow, Kidney, Lung, Skin

Publications for Melnick-Needles Syndrome

Articles related to Melnick-Needles Syndrome:

(show top 50) (show all 115)
# Title Authors PMID Year
1
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 57 6 54 61
12612583 2003
2
Filamin A: phenotypic diversity. 6 57
15917206 2005
3
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. 57 61
16926860 2007
4
Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders. 57 61
16538226 2006
5
Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. 6 61
16596676 2006
6
Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear. 57 61
11857561 2002
7
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. 61 57
10706363 2000
8
Melnick-Needles syndrome in a mother and her son. 61 57
8831131 1996
9
Melnick-Needles syndrome (osteodysplasty) in an older male--report of a case and a review of the literature. 61 57
1913051 1991
10
Hyperlaxity in males with Melnick-Needles syndrome. 57 61
3377003 1988
11
Melnick-Needles syndrome in males. 61 57
3605193 1987
12
Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome. 57 61
3605194 1987
13
Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome). 61 57
7158644 1982
14
X-linked or autosomal dominant, lethal in the male, inheritance of the Melnick-Needles (osteodysplasty) syndrome? A reappraisal. 61 57
7158645 1982
15
Melnick-Needles syndrome: indication for an autosomal recessive form. 61 57
7158646 1982
16
Melnick-Needles syndrome: radiographic alterations in the mandible. 57 61
663242 1978
17
[Osteodysplasty (Melnick-Needles syndrome)]. 57 61
5642274 1968
18
Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings. 6
30561107 2019
19
Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αIIbβ3 Activation. 6
28428218 2017
20
Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R. 6
26686323 2016
21
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
22
Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects. 6
26059211 2015
23
47 patients with FLNA associated periventricular nodular heterotopia. 6
26471271 2015
24
Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA. 6
25686753 2015
25
Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation. 6
25614868 2014
26
Novel no-stop FLNA mutation causes multi-organ involvement in males. 6
23873601 2013
27
Combined cardiological and neurological abnormalities due to filamin A gene mutation. 6
20730588 2011
28
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. 6
20598277 2010
29
A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation. 6
17264970 2007
30
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. 6
16835913 2006
31
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 6
16684786 2006
32
Periventricular heterotopia: new insights into Ehlers-Danlos syndrome. 6
16303888 2005
33
A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation. 6
15523633 2005
34
Molecular pathology of filamin A: diverse phenotypes, many functions. 6
15194946 2004
35
Biochemical abnormalities in connective tissue of osteodysplasty of Melnick-Needles and dyssegmental dwarfism. 57
6851229 1983
36
X-linked dominant inherited diseases with lethality in hemizygous males. 57
6873941 1983
37
Frontometaphyseal dysplasia: autosomal dominant or X-linked? 57
7189217 1980
38
Deafness in Osteodysplasty of Melnick and Needles. 57
646712 1978
39
Osteodysplasty (Melnick and Needles syndrome). Report of a case. 57
5666677 1968
40
An undiagnosed bone dysplasia. A 2 family study of 4 generations and 3 generations. 57
5938049 1966
41
Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome. 54 61
20186808 2010
42
Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients. 61 54
17159511 2007
43
A family of Melnick-Needles syndrome: a case report. 61
32814550 2020
44
Bony Breathlessness: Reversible Pulmonary Hypertension in Melnick-Needles Syndrome Using Noninvasive Ventilation 61
31479319 2019
45
Orthognathic surgery in Melnick-Needles syndrome: a review of the literature and report of two siblings. 61
29336932 2018
46
A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in males. 61
29575627 2018
47
Craniofacial and Dental Manifestations of Melnick-Needles Syndrome: Literature Review and Orthodontic Management. 61
30534457 2018
48
Emergency salpingectomy for ruptured ectopic pregnancy in patient with Melnick-Needles syndrome: a rare otopalatodigital syndrome. 61
29237658 2017
49
Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With FLNA. 61
29237676 2017
50
Quantitative anatomy of the growing clavicle in the human fetus: CT, digital image analysis, and statistical study. 61
28188365 2017

Variations for Melnick-Needles Syndrome

ClinVar genetic disease variations for Melnick-Needles Syndrome:

6 (show top 50) (show all 700)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLNA NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) SNV Pathogenic 11759 rs28935473 GRCh37: X:153588567-153588567
GRCh38: X:154360199-154360199
2 FLNA NM_001110556.2(FLNA):c.3552C>A (p.Asp1184Glu) SNV Pathogenic 21262 rs80338837 GRCh37: X:153588611-153588611
GRCh38: X:154360243-154360243
3 FLNA NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter) SNV Pathogenic 533562 rs1557177738 GRCh37: X:153588634-153588634
GRCh38: X:154360266-154360266
4 FLNA NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) SNV Pathogenic 209154 rs797045044 GRCh37: X:153586596-153586596
GRCh38: X:154358228-154358228
5 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs) Deletion Pathogenic 652215 rs1603358246 GRCh37: X:153577288-153577289
GRCh38: X:154348920-154348921
6 FLNA NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter) SNV Pathogenic 853726 GRCh37: X:153594961-153594961
GRCh38: X:154366593-154366593
7 FLNA NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter) SNV Pathogenic 856285 GRCh37: X:153582022-153582022
GRCh38: X:154353654-154353654
8 FLNA NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter) SNV Pathogenic 864458 GRCh37: X:153594745-153594745
GRCh38: X:154366377-154366377
9 FLNA NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs) Deletion Pathogenic 940733 GRCh37: X:153592978-153592984
GRCh38: X:154364610-154364616
10 FLNA NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter) SNV Pathogenic 941466 GRCh37: X:153588421-153588421
GRCh38: X:154360053-154360053
11 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7612_7613del (p.Leu2538fs) Microsatellite Pathogenic 938503 GRCh37: X:153577873-153577874
GRCh38: X:154349505-154349506
12 FLNA NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter) SNV Pathogenic 959369 GRCh37: X:153585923-153585923
GRCh38: X:154357555-154357555
13 FLNA NM_001110556.2(FLNA):c.2283dup (p.Asn762fs) Duplication Pathogenic 959608 GRCh37: X:153591149-153591150
GRCh38: X:154362781-154362782
14 FLNA NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter) SNV Pathogenic 967048 GRCh37: X:153594817-153594817
GRCh38: X:154366449-154366449
15 FLNA NM_001110556.2(FLNA):c.6586del (p.His2196fs) Deletion Pathogenic 964600 GRCh37: X:153580732-153580732
GRCh38: X:154352364-154352364
16 FLNA NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu) SNV Pathogenic 405445 rs1060500716 GRCh37: X:153588495-153588495
GRCh38: X:154360127-154360127
17 FLNA NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs) Deletion Pathogenic 405447 rs1060500718 GRCh37: X:153581697-153581698
GRCh38: X:154353329-154353330
18 FLNA NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs) Deletion Pathogenic 464997 rs1557177086 GRCh37: X:153585895-153585907
GRCh38: X:154357527-154357539
19 FLNA NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer) Duplication Pathogenic 465027 rs1557179357 GRCh37: X:153594986-153594987
GRCh38: X:154366618-154366619
20 FLNA NM_001110556.2(FLNA):c.3814del (p.Arg1272fs) Deletion Pathogenic 533585 rs1557177636 GRCh37: X:153588265-153588265
GRCh38: X:154359897-154359897
21 FLNA NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter) SNV Pathogenic 574177 rs1557177623 GRCh37: X:153588214-153588214
GRCh38: X:154359846-154359846
22 FLNA NM_001110556.2(FLNA):c.2565+1G>A SNV Pathogenic 575118 rs786205186 GRCh37: X:153590785-153590785
GRCh38: X:154362417-154362417
23 FLNA NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter) SNV Pathogenic 580826 rs1569551861 GRCh37: X:153596053-153596053
GRCh38: X:154367685-154367685
24 FLNA NM_001110556.2(FLNA):c.5879dup (p.Met1960fs) Duplication Pathogenic 647567 rs1603359464 GRCh37: X:153581806-153581807
GRCh38: X:154353438-154353439
25 FLNA NM_001110556.2(FLNA):c.5643del (p.Asn1881fs) Deletion Pathogenic 575768 rs1569551502 GRCh37: X:153582326-153582326
GRCh38: X:154353958-154353958
26 FLNA NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr) SNV Pathogenic 11758 rs28935472 GRCh37: X:153588601-153588601
GRCh38: X:154360233-154360233
27 FLNA NM_001110556.2(FLNA):c.2452del (p.Ala818fs) Deletion Pathogenic 659278 rs1603361851 GRCh37: X:153590899-153590899
GRCh38: X:154362531-154362531
28 FLNA NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs) Indel Pathogenic 662513 rs1603361195 GRCh37: X:153588859-153588867
GRCh38: X:154360491-154360499
29 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) Insertion Pathogenic 453200 rs1557175195 GRCh37: X:153577381-153577382
GRCh38: X:154349013-154349014
30 FLNA NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) SNV Pathogenic 11761 rs137853312 GRCh37: X:153588606-153588606
GRCh38: X:154360238-154360238
31 FLNA NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter) SNV Pathogenic 234717 rs782308324 GRCh37: X:153578477-153578477
GRCh38: X:154350109-154350109
32 FLNA NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=) SNV Pathogenic 11775 rs387907371 GRCh37: X:153583193-153583193
GRCh38: X:154354825-154354825
33 FLNA NM_001110556.2(FLNA):c.4142+1G>A SNV Likely pathogenic 662049 rs1603360906 GRCh37: X:153587851-153587851
GRCh38: X:154359483-154359483
34 FLNA NM_001110556.2(FLNA):c.5686+1G>C SNV Likely pathogenic 533566 rs1557176315 GRCh37: X:153582282-153582282
GRCh38: X:154353914-154353914
35 FLNA NM_001110556.2(FLNA):c.4143-1G>T SNV Likely pathogenic 464989 rs1557177485 GRCh37: X:153587775-153587775
GRCh38: X:154359407-154359407
36 FLNA NM_001110556.2(FLNA):c.4596_4598+5del Deletion Likely pathogenic 464993 rs1557177279 GRCh37: X:153586808-153586815
GRCh38: X:154358440-154358447
37 FLNA NM_001110556.2(FLNA):c.2827-2A>C SNV Likely pathogenic 859086 GRCh37: X:153590157-153590157
GRCh38: X:154361789-154361789
38 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7768_7770CTG[1] (p.Leu2591del) Microsatellite Likely pathogenic 854776 GRCh37: X:153577388-153577390
GRCh38: X:154349020-154349022
39 FLNA NM_001110556.2(FLNA):c.1065+1G>T SNV Likely pathogenic 841425 GRCh37: X:153594929-153594929
GRCh38: X:154366561-154366561
40 FLNA NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) SNV Likely pathogenic 11772 rs137853317 GRCh37: X:153596246-153596246
GRCh38: X:154367878-154367878
41 FLNA NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His) SNV Uncertain significance 533573 rs369668866 GRCh37: X:153588903-153588903
GRCh38: X:154360535-154360535
42 FLNA NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) SNV Uncertain significance 93756 rs371677498 GRCh37: X:153588840-153588840
GRCh38: X:154360472-154360472
43 FLNA NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) SNV Uncertain significance 213491 rs782447567 GRCh37: X:153596263-153596263
GRCh38: X:154367895-154367895
44 FLNA NM_001110556.2(FLNA):c.6218G>A (p.Arg2073His) SNV Uncertain significance 213470 rs781956012 GRCh37: X:153581377-153581377
GRCh38: X:154353009-154353009
45 FLNA NM_001110556.2(FLNA):c.6002G>A (p.Arg2001Gln) SNV Uncertain significance 807861 rs1483960506 GRCh37: X:153581684-153581684
GRCh38: X:154353316-154353316
46 FLNA NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His) SNV Uncertain significance 167077 rs727503930 GRCh37: X:153578560-153578560
GRCh38: X:154350192-154350192
47 FLNA NM_001110556.2(FLNA):c.4589T>G (p.Val1530Gly) SNV Uncertain significance 1035000 GRCh37: X:153586822-153586822
GRCh38: X:154358454-154358454
48 FLNA NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys) SNV Uncertain significance 197460 rs781878646 GRCh37: X:153579959-153579959
GRCh38: X:154351591-154351591
49 FLNA NM_001110556.2(FLNA):c.305T>G (p.Met102Arg) SNV Uncertain significance 1036609 GRCh37: X:153599309-153599309
GRCh38: X:154370941-154370941
50 FLNA NM_001110556.2(FLNA):c.2071A>C (p.Lys691Gln) SNV Uncertain significance 1036639 GRCh37: X:153592692-153592692
GRCh38: X:154364324-154364324

UniProtKB/Swiss-Prot genetic disease variations for Melnick-Needles Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 FLNA p.Ala1188Thr VAR_015703 rs28935472
2 FLNA p.Ser1199Leu VAR_015704 rs28935473
3 FLNA p.Asp1184Glu VAR_015720 rs80338837

Expression for Melnick-Needles Syndrome

Search GEO for disease gene expression data for Melnick-Needles Syndrome.

Pathways for Melnick-Needles Syndrome

Pathways related to Melnick-Needles Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.9 ADD2 ADD1

GO Terms for Melnick-Needles Syndrome

Cellular components related to Melnick-Needles Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.93 SLC14A1 RHD RHAG KEL GYPE GYPB
2 integral component of plasma membrane GO:0005887 9.5 SLC14A1 RHD RHCE RHAG GYPE GYPB
3 F-actin capping protein complex GO:0008290 8.62 ADD2 ADD1

Biological processes related to Melnick-Needles Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton organization GO:0030036 9.56 FLNB FLNA ADD2 ADD1
2 barbed-end actin filament capping GO:0051016 9.43 ADD2 ADD1
3 glycogen biosynthetic process GO:0005978 9.4 PGM2 PGM1
4 glycogen catabolic process GO:0005980 9.37 PGM2 PGM1
5 galactose catabolic process GO:0019388 9.32 PGM2 PGM1
6 organic substance metabolic process GO:0071704 9.16 PGM2 PGM1
7 ammonium transmembrane transport GO:0072488 9.13 RHD RHCE RHAG
8 ammonium transport GO:0015696 8.8 RHD RHCE RHAG

Molecular functions related to Melnick-Needles Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.56 FLNB FLNA ADD2 ADD1
2 spectrin binding GO:0030507 9.32 ADD2 ADD1
3 intramolecular transferase activity, phosphotransferases GO:0016868 9.16 PGM2 PGM1
4 phosphoglucomutase activity GO:0004614 8.96 PGM2 PGM1
5 ammonium transmembrane transporter activity GO:0008519 8.8 RHD RHCE RHAG

Sources for Melnick-Needles Syndrome

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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