MNS
MCID: MLN014
MIFTS: 41

Melnick-Needles Syndrome (MNS)

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

Aliases & Classifications for Melnick-Needles Syndrome

MalaCards integrated aliases for Melnick-Needles Syndrome:

Name: Melnick-Needles Syndrome 57 53 25 59 75 29 13 55 6 40 73
Melnick-Needles Osteodysplasty 57 53 25 59
Mns 57 53 25 75
Osteodysplasty of Melnick and Needles 57 53 25
Melnickneedles Syndrome 76

Characteristics:

Orphanet epidemiological data:

59
melnick-needles syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
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:

32
melnick-needles syndrome:
Mortality/Aging stillbirth
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Melnick-Needles Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Melnick-Needles Syndrome, also known as melnick-needles osteodysplasty, is related to frontometaphyseal dysplasia and periventricular nodular heterotopia, and has symptoms including hoarseness An important gene associated with Melnick-Needles Syndrome is FLNA (Filamin A). Affiliated tissues include bone, kidney and heart, and related phenotypes are hypertelorism and frontal bossing

Genetics Home Reference : 25 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, and frontometaphyseal 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).

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)

UniProtKB/Swiss-Prot : 75 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 : 76 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 115)
# Related Disease Score Top Affiliating Genes
1 frontometaphyseal dysplasia 32.2 FLNA LOC105373386
2 periventricular nodular heterotopia 29.8 FLNA LOC105373386
3 otopalatodigital syndrome, type ii 11.9
4 otopalatodigital syndrome, type i 11.6
5 frank-ter haar syndrome 11.6
6 frontometaphyseal dysplasia 1 11.3
7 hypermanganesemia with dystonia 2 11.0
8 neuroblastoma 10.9
9 prostate cancer 10.8
10 segmental odontomaxillary dysplasia 10.6
11 retinoblastoma 10.3
12 hypoxia 10.1
13 rapidly involuting congenital hemangioma 10.1
14 atelosteogenesis, type i 10.1
15 boomerang dysplasia 10.1
16 atelosteogenesis 10.1
17 sleep apnea 10.1
18 omphalocele 10.1
19 ectopic pregnancy 10.1
20 epilepsy 10.1
21 growth hormone deficiency 10.1
22 human immunodeficiency virus type 1 10.1
23 pemphigus foliaceus 10.0
24 adamantinoma of long bones 10.0
25 suppressor of tumorigenicity 3 10.0
26 gastric cancer 10.0
27 microcephaly, epilepsy, and diabetes syndrome 10.0
28 squamous cell carcinoma 10.0
29 isolated optic neuritis 10.0
30 amyotrophic lateral sclerosis 1 9.9
31 congenital anomalies of kidney and urinary tract 2 9.9
32 renal cell carcinoma, nonpapillary 9.9
33 benign chronic pemphigus 9.9
34 schizophrenia 9.9
35 neutrophil actin dysfunction 9.9
36 aging 9.9
37 granulomatosis with polyangiitis 9.9
38 membranous nephropathy 9.9
39 diabetes mellitus 9.9
40 motor neuron disease 9.9
41 oral squamous cell carcinoma 9.9
42 obstructive nephropathy 9.9
43 hydronephrosis 9.9
44 melanoma 9.9
45 lateral sclerosis 9.9
46 ischemia 9.9
47 paraneoplastic neurologic disorders 9.9
48 periventricular nodular heterotopia 1 9.8 FLNA LOC105373386
49 alzheimer disease 9.7
50 anterior segment dysgenesis 1 9.7

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



Diseases related to Melnick-Needles Syndrome

Symptoms & Phenotypes for Melnick-Needles Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
exophthalmos

Skeletal Limbs:
genu valgum
limited elbow extension
short upper arms
bowing of humerus
bowing of radius
more
Respiratory:
recurrent respiratory infections

Skin Nails Hair Hair:
coarse hair

Head And Neck Face:
micrognathia
small face
prominent hirsute forehead
full cheek
prominent supraorbital ridge

Head And Neck Ears:
recurrent otitis media
large ears

Voice:
hoarse voice

Skeletal Spine:
kyphoscoliosis
tall vertebrae
anterior concavity of thoracic vertebrae

Head And Neck Neck:
long neck

Neurologic Central Nervous System:
delayed motor development
abnormal gait

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)

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

Growth Other:
failure to thrive

Skeletal Feet:
pes planus
club feet

Head And Neck Mouth:
cleft palate

Skeletal Pelvis:
coxa valga
hip dislocation
iliac flaring

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

Genitourinary Kidneys:
hydronephrosis

Genitourinary Ureters:
ureteral stenosis

Respiratory Lung:
pulmonary hypertension

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

Human phenotypes related to Melnick-Needles Syndrome:

59 32 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
3 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
4 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
5 prominent supraorbital ridges 59 32 hallmark (90%) Very frequent (99-80%) HP:0000336
6 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
7 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
8 craniofacial hyperostosis 59 32 frequent (33%) Frequent (79-30%) HP:0004493
9 bowing of the long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0006487
10 abnormal cortical bone morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0003103
11 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
12 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
13 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
14 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
15 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
16 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
17 coxa valga 59 32 frequent (33%) Frequent (79-30%) HP:0002673
18 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
19 short thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0010306
20 hip dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0002827
21 vesicoureteral reflux 59 32 frequent (33%) Frequent (79-30%) HP:0000076
22 abnormality of the ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000772
23 anisospondyly 59 32 frequent (33%) Frequent (79-30%) HP:0002879
24 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
25 short distal phalanx of finger 59 32 frequent (33%) Frequent (79-30%) HP:0009882
26 facial asymmetry 59 32 frequent (33%) Frequent (79-30%) HP:0000324
27 hydronephrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000126
28 omphalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0001539
29 misalignment of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000692
30 short clavicles 59 32 frequent (33%) Frequent (79-30%) HP:0000894
31 delayed cranial suture closure 59 32 hallmark (90%) Very frequent (99-80%) HP:0000270
32 cone-shaped epiphyses of the phalanges of the hand 59 32 frequent (33%) Frequent (79-30%) HP:0010230
33 abnormality of the pubic bone 59 32 frequent (33%) Frequent (79-30%) HP:0003172
34 osteolytic defects of the phalanges of the hand 59 32 frequent (33%) Frequent (79-30%) HP:0009771
35 pectus excavatum 32 HP:0000767
36 genu valgum 32 HP:0002857
37 gait disturbance 32 HP:0001288
38 failure to thrive 32 HP:0001508
39 macrotia 32 HP:0000400
40 pes planus 32 HP:0001763
41 coarse hair 32 HP:0002208
42 cleft palate 32 HP:0000175
43 pulmonary arterial hypertension 32 HP:0002092
44 strabismus 32 HP:0000486
45 recurrent otitis media 32 HP:0000403
46 motor delay 32 HP:0001270
47 talipes equinovarus 32 HP:0001762
48 mitral valve prolapse 32 HP:0001634
49 hoarse voice 32 HP:0001609
50 abnormality of the cardiac septa 59 Frequent (79-30%)

UMLS symptoms related to Melnick-Needles Syndrome:


hoarseness

Drugs & Therapeutics for Melnick-Needles Syndrome

Search Clinical Trials , NIH Clinical Center for Melnick-Needles Syndrome

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:

41
Bone, Kidney, Heart, Skin, Eye, Brain, Thyroid

Publications for Melnick-Needles Syndrome

Articles related to Melnick-Needles Syndrome:

(show top 50) (show all 54)
# Title Authors Year
1
A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in males. ( 29575627 )
2018
2
Orthognathic surgery in Melnick-Needles syndrome: a review of the literature and report of two siblings. ( 29336932 )
2018
3
Craniofacial and Dental Manifestations of Melnick-Needles Syndrome: Literature Review and Orthodontic Management. ( 30534457 )
2018
4
Emergency salpingectomy for ruptured ectopic pregnancy in patient with Melnick-Needles syndrome: a rare otopalatodigital syndrome. ( 29237658 )
2017
5
Maxillofacial Changes in Melnick-Needles Syndrome. ( 27478655 )
2016
6
Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects. ( 25755106 )
2015
7
Correction of spine deformity in patients with Melnick-needles syndrome: report of 2 cases and literature review. ( 23389572 )
2013
8
Orthognathic surgery in Melnick-Needles-Syndrome. Case report and review of the literature. ( 22014680 )
2012
9
Mandibular distraction osteogenesis reconstructed the upper airway in a case of Melnick-Needles syndrome. ( 20437066 )
2011
10
Chronic temporomandibular joint dislocation by mandibular distraction in a patient with Melnick-needles syndrome. ( 20072009 )
2010
11
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome. ( 21031081 )
2010
12
Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome. ( 20186808 )
2010
13
Melnick-Needles syndrome associated with growth hormone deficiency: a case report. ( 21274303 )
2009
14
Audiological outcomes after cochlear implantation in a patient with Melnick-Needles syndrome. ( 18568526 )
2008
15
Mandibular distraction osteogenesis in a patient with Melnick-Needles syndrome. ( 18216701 )
2008
16
Melnick-Needles Syndrome: report of a case associated with bilateral hypoplasia of the cochlea. ( 17569979 )
2007
17
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. ( 16926860 )
2007
18
Melnick-Needles syndrome with obstructive sleep apnea successfully treated with nasal continuous positive airway pressure ventilation. ( 16440074 )
2006
19
The high-resolution chest CT findings in an adult with Melnick-Needles syndrome. ( 16919559 )
2006
20
Melnick- needles osteodysplasty presenting with quadriparesis. ( 16800356 )
2006
21
Melnick-Needles syndrome and GH-deficiency: a possible new association feature. ( 16402013 )
2005
22
Fibular lengthening procedure: treatment for lateral instability of the ankle caused by fibular insufficiency in Melnick-Needles syndrome. ( 15076585 )
2004
23
Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear. ( 11857561 )
2002
24
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. ( 10706363 )
2000
25
Clinical and radiological aspects in Melnick-Needles syndrome. ( 10513069 )
1999
26
Infant with manifestations of oto-palato-digital syndrome type II and of Melnick-Needles syndrome. ( 10377016 )
1999
27
Noncompaction of the ventricular myocardium in Melnick-Needles syndrome. ( 9215772 )
1997
28
Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome. ( 9409862 )
1997
29
Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred. ( 9268106 )
1997
30
Melnick-Needles syndrome in a mother and her son. ( 8831131 )
1996
31
Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. ( 7778598 )
1995
32
Melnick Needles syndrome. ( 8635812 )
1995
33
Melnick-Needles syndrome. ( 8024513 )
1994
34
Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders. ( 8276023 )
1993
35
Emergency tracheostomy in a patient with Melnick-Needles syndrome and sleep apnoea. ( 15125292 )
1993
36
Melnick-Needles syndrome. Four new cases. ( 1523045 )
1992
37
Case report 717. Osteodysplasty (Melnick-Needles syndrome). ( 1566112 )
1992
38
Melnick-Needles syndrome (osteodysplasty) in an older male--report of a case and a review of the literature. ( 1913051 )
1991
39
Urological manifestations of the Melnick-Needles syndrome: a case report and review of the literature. ( 2016783 )
1991
40
Mitral valve and tricuspidal valve prolapse in Melnick-Needles syndrome. ( 1743220 )
1991
41
Hyperlaxity in males with Melnick-Needles syndrome. ( 3377003 )
1988
42
Serpentine fibula--polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity? ( 3409932 )
1988
43
Melnick-Needles syndrome in males. ( 3605193 )
1987
44
Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome. ( 3605194 )
1987
45
Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity. ( 3793511 )
1986
46
The nature of the mandibular lesion in Melnick-Needles syndrome. ( 6695089 )
1984
47
Melnick-Needles syndrome: osteodysplasty with kyphoscoliosis. ( 6874941 )
1983
48
Melnick-Needles syndrome: indication for an autosomal recessive form. ( 7158646 )
1982
49
Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome). ( 7158644 )
1982
50
Osteodysplasty (Melnick-Needles syndrome) in a male. ( 7163256 )
1982

Variations for Melnick-Needles Syndrome

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

75
# 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

ClinVar genetic disease variations for Melnick-Needles Syndrome:

6 (show top 50) (show all 673)
# Gene Variation Type Significance SNP ID Assembly Location
1 FLNA NM_001110556.1(FLNA): c.3562G> A (p.Ala1188Thr) single nucleotide variant Pathogenic rs28935472 GRCh37 Chromosome X, 153588601: 153588601
2 FLNA NM_001110556.1(FLNA): c.3562G> A (p.Ala1188Thr) single nucleotide variant Pathogenic rs28935472 GRCh38 Chromosome X, 154360233: 154360233
3 FLNA NM_001110556.1(FLNA): c.3596C> T (p.Ser1199Leu) single nucleotide variant Pathogenic rs28935473 GRCh37 Chromosome X, 153588567: 153588567
4 FLNA NM_001110556.1(FLNA): c.3596C> T (p.Ser1199Leu) single nucleotide variant Pathogenic rs28935473 GRCh38 Chromosome X, 154360199: 154360199
5 FLNA NM_001110556.1(FLNA): c.3557C> T (p.Ser1186Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137853312 GRCh37 Chromosome X, 153588606: 153588606
6 FLNA NM_001110556.1(FLNA): c.3557C> T (p.Ser1186Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137853312 GRCh38 Chromosome X, 154360238: 154360238
7 FLNA NM_001110556.1(FLNA): c.586C> T (p.Arg196Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853317 GRCh37 Chromosome X, 153596246: 153596246
8 FLNA NM_001110556.1(FLNA): c.586C> T (p.Arg196Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853317 GRCh38 Chromosome X, 154367878: 154367878
9 FLNA NM_001110556.1(FLNA): c.3552C> A (p.Asp1184Glu) single nucleotide variant Pathogenic rs80338837 GRCh37 Chromosome X, 153588611: 153588611
10 FLNA NM_001110556.1(FLNA): c.3552C> A (p.Asp1184Glu) single nucleotide variant Pathogenic rs80338837 GRCh38 Chromosome X, 154360243: 154360243
11 FLNA NM_001110556.1(FLNA): c.1286C> T (p.Thr429Met) single nucleotide variant Benign/Likely benign rs36051194 GRCh37 Chromosome X, 153594535: 153594535
12 FLNA NM_001110556.1(FLNA): c.1286C> T (p.Thr429Met) single nucleotide variant Benign/Likely benign rs36051194 GRCh38 Chromosome X, 154366167: 154366167
13 FLNA NM_001110556.1(FLNA): c.1429+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs202181557 GRCh37 Chromosome X, 153594384: 153594384
14 FLNA NM_001110556.1(FLNA): c.1429+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs202181557 GRCh38 Chromosome X, 154366016: 154366016
15 FLNA NM_001110556.1(FLNA): c.3035C> T (p.Ser1012Leu) single nucleotide variant Benign/Likely benign rs17091204 GRCh37 Chromosome X, 153589848: 153589848
16 FLNA NM_001110556.1(FLNA): c.3035C> T (p.Ser1012Leu) single nucleotide variant Benign/Likely benign rs17091204 GRCh38 Chromosome X, 154361480: 154361480
17 FLNA NM_001456.3(FLNA): c.3147C> T (p.Gly1049=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123615 GRCh37 Chromosome X, 153589736: 153589736
18 FLNA NM_001456.3(FLNA): c.3147C> T (p.Gly1049=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123615 GRCh38 Chromosome X, 154361368: 154361368
19 FLNA NM_001456.3(FLNA): c.3379G> A (p.Val1127Met) single nucleotide variant Conflicting interpretations of pathogenicity rs398123617 GRCh37 Chromosome X, 153588784: 153588784
20 FLNA NM_001456.3(FLNA): c.3379G> A (p.Val1127Met) single nucleotide variant Conflicting interpretations of pathogenicity rs398123617 GRCh38 Chromosome X, 154360416: 154360416
21 FLNA NM_001456.3(FLNA): c.4263C> T (p.Thr1421=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123618 GRCh37 Chromosome X, 153587654: 153587654
22 FLNA NM_001456.3(FLNA): c.4263C> T (p.Thr1421=) single nucleotide variant Conflicting interpretations of pathogenicity rs398123618 GRCh38 Chromosome X, 154359286: 154359286
23 FLNA NM_001110556.1(FLNA): c.4920G> A (p.Gly1640=) single nucleotide variant Benign rs61741041 GRCh37 Chromosome X, 153585827: 153585827
24 FLNA NM_001110556.1(FLNA): c.4920G> A (p.Gly1640=) single nucleotide variant Benign rs61741041 GRCh38 Chromosome X, 154357459: 154357459
25 FLNA NM_001110556.1(FLNA): c.5290G> A (p.Ala1764Thr) single nucleotide variant Benign rs57108893 GRCh37 Chromosome X, 153583007: 153583007
26 FLNA NM_001110556.1(FLNA): c.5290G> A (p.Ala1764Thr) single nucleotide variant Benign rs57108893 GRCh38 Chromosome X, 154354639: 154354639
27 FLNA NM_001456.3(FLNA): c.5948C> T (p.Ser1983Leu) single nucleotide variant Benign/Likely benign rs187029309 GRCh37 Chromosome X, 153581714: 153581714
28 FLNA NM_001456.3(FLNA): c.5948C> T (p.Ser1983Leu) single nucleotide variant Benign/Likely benign rs187029309 GRCh38 Chromosome X, 154353346: 154353346
29 FLNA NM_001456.3(FLNA): c.6618G> C (p.Val2206=) single nucleotide variant Benign rs1064822 GRCh37 Chromosome X, 153580676: 153580676
30 FLNA NM_001456.3(FLNA): c.6618G> C (p.Val2206=) single nucleotide variant Benign rs1064822 GRCh38 Chromosome X, 154352308: 154352308
31 FLNA NM_001110556.1(FLNA): c.663C> T (p.Pro221=) single nucleotide variant Benign rs2073470 GRCh37 Chromosome X, 153596066: 153596066
32 FLNA NM_001110556.1(FLNA): c.663C> T (p.Pro221=) single nucleotide variant Benign rs2073470 GRCh38 Chromosome X, 154367698: 154367698
33 FLNA NM_001110556.1(FLNA): c.6742C> T (p.Leu2248=) single nucleotide variant Benign/Likely benign rs113510895 GRCh37 Chromosome X, 153580576: 153580576
34 FLNA NM_001110556.1(FLNA): c.6742C> T (p.Leu2248=) single nucleotide variant Benign/Likely benign rs113510895 GRCh38 Chromosome X, 154352208: 154352208
35 FLNA NM_001456.3(FLNA): c.869-7C> T single nucleotide variant Benign rs143311779 GRCh37 Chromosome X, 153595225: 153595225
36 FLNA NM_001456.3(FLNA): c.869-7C> T single nucleotide variant Benign rs143311779 GRCh38 Chromosome X, 154366857: 154366857
37 FLNA NM_001456.3(FLNA): c.882A> G (p.Thr294=) single nucleotide variant Benign rs184864998 GRCh37 Chromosome X, 153595205: 153595205
38 FLNA NM_001456.3(FLNA): c.882A> G (p.Thr294=) single nucleotide variant Benign rs184864998 GRCh38 Chromosome X, 154366837: 154366837
39 FLNA NM_001456.3(FLNA): c.1239G> A (p.Thr413=) single nucleotide variant Conflicting interpretations of pathogenicity rs200278701 GRCh37 Chromosome X, 153594582: 153594582
40 FLNA NM_001456.3(FLNA): c.1239G> A (p.Thr413=) single nucleotide variant Conflicting interpretations of pathogenicity rs200278701 GRCh38 Chromosome X, 154366214: 154366214
41 FLNA NM_001456.3(FLNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202029322 GRCh37 Chromosome X, 153593616: 153593616
42 FLNA NM_001456.3(FLNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202029322 GRCh38 Chromosome X, 154365248: 154365248
43 FLNA NM_001456.3(FLNA): c.3045G> A (p.Ala1015=) single nucleotide variant Conflicting interpretations of pathogenicity rs370868704 GRCh37 Chromosome X, 153589838: 153589838
44 FLNA NM_001456.3(FLNA): c.3045G> A (p.Ala1015=) single nucleotide variant Conflicting interpretations of pathogenicity rs370868704 GRCh38 Chromosome X, 154361470: 154361470
45 FLNA NM_001110556.1(FLNA): c.1176G> A (p.Glu392=) single nucleotide variant Benign/Likely benign rs201173693 GRCh37 Chromosome X, 153594728: 153594728
46 FLNA NM_001110556.1(FLNA): c.1176G> A (p.Glu392=) single nucleotide variant Benign/Likely benign rs201173693 GRCh38 Chromosome X, 154366360: 154366360
47 FLNA NM_001456.3(FLNA): c.1691+7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs199565118 GRCh37 Chromosome X, 153593497: 153593497
48 FLNA NM_001456.3(FLNA): c.1691+7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs199565118 GRCh38 Chromosome X, 154365129: 154365129
49 FLNA NM_001456.3(FLNA): c.1968C> T (p.Leu656=) single nucleotide variant Benign rs73638274 GRCh37 Chromosome X, 153592948: 153592948
50 FLNA NM_001456.3(FLNA): c.1968C> T (p.Leu656=) single nucleotide variant Benign rs73638274 GRCh38 Chromosome X, 154364580: 154364580

Expression for Melnick-Needles Syndrome

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

Pathways for Melnick-Needles Syndrome

GO Terms for Melnick-Needles Syndrome

Sources for Melnick-Needles Syndrome

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