MCID: MLN014
MIFTS: 38

Melnick-Needles Syndrome

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

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 all 18)
# Related Disease Score Top Affiliating Genes
1 frontometaphyseal dysplasia 31.3 FLNA LOC105373386
2 periventricular nodular heterotopia 28.4 FLNA LOC105373386
3 otopalatodigital syndrome, type ii 11.8
4 otopalatodigital syndrome, type i 11.5
5 frank-ter haar syndrome 11.5
6 frontometaphyseal dysplasia 1 11.2
7 apnea, obstructive sleep 9.9
8 atelosteogenesis, type i 9.9
9 boomerang dysplasia 9.9
10 atelosteogenesis 9.9
11 sleep apnea 9.9
12 omphalocele 9.9
13 ectopic pregnancy 9.9
14 epilepsy 9.9
15 tricuspid valve prolapse 9.9
16 type i 9.9
17 growth hormone deficiency 9.9
18 periventricular nodular heterotopia 1 9.3 FLNA LOC105373386

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 mitral valve prolapse 32 HP:0001634
47 talipes equinovarus 32 HP:0001762
48 hoarse voice 32 HP:0001609
49 abnormality of the cardiac septa 59 Frequent (79-30%)
50 motor delay 32 HP:0001270

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

Publications for Melnick-Needles Syndrome

Articles related to Melnick-Needles Syndrome:

(show top 50) (show all 51)
# 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
Emergency salpingectomy for ruptured ectopic pregnancy in patient with Melnick-Needles syndrome: a rare otopalatodigital syndrome. ( 29237658 )
2017
4
Maxillofacial Changes in Melnick-Needles Syndrome. ( 27478655 )
2016
5
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
6
Correction of spine deformity in patients with Melnick-needles syndrome: report of 2 cases and literature review. ( 23389572 )
2013
7
Orthognathic surgery in Melnick-Needles-Syndrome. Case report and review of the literature. ( 22014680 )
2012
8
Mandibular distraction osteogenesis reconstructed the upper airway in a case of Melnick-Needles syndrome. ( 20437066 )
2011
9
Chronic temporomandibular joint dislocation by mandibular distraction in a patient with Melnick-needles syndrome. ( 20072009 )
2010
10
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome. ( 21031081 )
2010
11
Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome. ( 20186808 )
2010
12
Melnick-Needles syndrome associated with growth hormone deficiency: a case report. ( 21274303 )
2009
13
Audiological outcomes after cochlear implantation in a patient with Melnick-Needles syndrome. ( 18568526 )
2008
14
Mandibular distraction osteogenesis in a patient with Melnick-Needles syndrome. ( 18216701 )
2008
15
Melnick-Needles Syndrome: report of a case associated with bilateral hypoplasia of the cochlea. ( 17569979 )
2007
16
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. ( 16926860 )
2007
17
Melnick-Needles syndrome with obstructive sleep apnea successfully treated with nasal continuous positive airway pressure ventilation. ( 16440074 )
2006
18
The high-resolution chest CT findings in an adult with Melnick-Needles syndrome. ( 16919559 )
2006
19
Melnick-Needles syndrome and GH-deficiency: a possible new association feature. ( 16402013 )
2005
20
Fibular lengthening procedure: treatment for lateral instability of the ankle caused by fibular insufficiency in Melnick-Needles syndrome. ( 15076585 )
2004
21
Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear. ( 11857561 )
2002
22
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. ( 10706363 )
2000
23
Clinical and radiological aspects in Melnick-Needles syndrome. ( 10513069 )
1999
24
Infant with manifestations of oto-palato-digital syndrome type II and of Melnick-Needles syndrome. ( 10377016 )
1999
25
Noncompaction of the ventricular myocardium in Melnick-Needles syndrome. ( 9215772 )
1997
26
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
27
Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred. ( 9268106 )
1997
28
Melnick-Needles syndrome in a mother and her son. ( 8831131 )
1996
29
Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. ( 7778598 )
1995
30
Melnick Needles syndrome. ( 8635812 )
1995
31
Melnick-Needles syndrome. ( 8024513 )
1994
32
Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders. ( 8276023 )
1993
33
Emergency tracheostomy in a patient with Melnick-Needles syndrome and sleep apnoea. ( 15125292 )
1993
34
Melnick-Needles syndrome. Four new cases. ( 1523045 )
1992
35
Case report 717. Osteodysplasty (Melnick-Needles syndrome). ( 1566112 )
1992
36
Melnick-Needles syndrome (osteodysplasty) in an older male--report of a case and a review of the literature. ( 1913051 )
1991
37
Urological manifestations of the Melnick-Needles syndrome: a case report and review of the literature. ( 2016783 )
1991
38
Mitral valve and tricuspidal valve prolapse in Melnick-Needles syndrome. ( 1743220 )
1991
39
Hyperlaxity in males with Melnick-Needles syndrome. ( 3377003 )
1988
40
Serpentine fibula--polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity? ( 3409932 )
1988
41
Melnick-Needles syndrome in males. ( 3605193 )
1987
42
Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome. ( 3605194 )
1987
43
Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity. ( 3793511 )
1986
44
The nature of the mandibular lesion in Melnick-Needles syndrome. ( 6695089 )
1984
45
Melnick-Needles syndrome: osteodysplasty with kyphoscoliosis. ( 6874941 )
1983
46
Melnick-Needles syndrome: indication for an autosomal recessive form. ( 7158646 )
1982
47
Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome). ( 7158644 )
1982
48
Osteodysplasty (Melnick-Needles syndrome) in a male. ( 7163256 )
1982
49
Melnick-Needles syndrome: radiographic alterations in the mandible. ( 663242 )
1978
50
Melnick-Needles syndrome. ( 105122 )
1978

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 495)
# 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.3552C> A (p.Asp1184Glu) single nucleotide variant Pathogenic rs80338837 GRCh37 Chromosome X, 153588611: 153588611
6 FLNA NM_001110556.1(FLNA): c.3552C> A (p.Asp1184Glu) single nucleotide variant Pathogenic rs80338837 GRCh38 Chromosome X, 154360243: 154360243
7 FLNA NM_001456.3(FLNA): c.7148G> A (p.Arg2383His) single nucleotide variant Uncertain significance rs727503930 GRCh37 Chromosome X, 153578560: 153578560
8 FLNA NM_001456.3(FLNA): c.7148G> A (p.Arg2383His) single nucleotide variant Uncertain significance rs727503930 GRCh38 Chromosome X, 154350192: 154350192
9 FLNA NM_001456.3(FLNA): c.7732+8A> G single nucleotide variant Benign/Likely benign rs201663443 GRCh37 Chromosome X, 153577722: 153577722
10 FLNA NM_001456.3(FLNA): c.7732+8A> G single nucleotide variant Benign/Likely benign rs201663443 GRCh38 Chromosome X, 154349354: 154349354
11 FLNA NM_001456.3(FLNA): c.4179G> A (p.Glu1393=) single nucleotide variant Conflicting interpretations of pathogenicity rs182074603 GRCh37 Chromosome X, 153587738: 153587738
12 FLNA NM_001456.3(FLNA): c.4179G> A (p.Glu1393=) single nucleotide variant Conflicting interpretations of pathogenicity rs182074603 GRCh38 Chromosome X, 154359370: 154359370
13 FLNA NM_001110556.1(FLNA): c.4866C> T (p.Tyr1622=) single nucleotide variant Benign/Likely benign rs200835571 GRCh37 Chromosome X, 153585881: 153585881
14 FLNA NM_001110556.1(FLNA): c.4866C> T (p.Tyr1622=) single nucleotide variant Benign/Likely benign rs200835571 GRCh38 Chromosome X, 154357513: 154357513
15 FLNA NM_001110556.1(FLNA): c.4451A> G (p.Gln1484Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200130356 GRCh37 Chromosome X, 153587375: 153587375
16 FLNA NM_001110556.1(FLNA): c.4451A> G (p.Gln1484Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200130356 GRCh38 Chromosome X, 154359007: 154359007
17 FLNA NM_001110556.1(FLNA): c.4060G> A (p.Asp1354Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs377390031 GRCh37 Chromosome X, 153587934: 153587934
18 FLNA NM_001110556.1(FLNA): c.4060G> A (p.Asp1354Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs377390031 GRCh38 Chromosome X, 154359566: 154359566
19 FLNA NM_001110556.1(FLNA): c.2023-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs372021340 GRCh38 Chromosome X, 154364378: 154364378
20 FLNA NM_001110556.1(FLNA): c.2023-6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs372021340 GRCh37 Chromosome X, 153592746: 153592746
21 FLNA NM_001456.3(FLNA): c.1582G> A (p.Val528Met) single nucleotide variant Benign/Likely benign rs143873938 GRCh37 Chromosome X, 153593613: 153593613
22 FLNA NM_001456.3(FLNA): c.1582G> A (p.Val528Met) single nucleotide variant Benign/Likely benign rs143873938 GRCh38 Chromosome X, 154365245: 154365245
23 FLNA NM_001456.3(FLNA): c.1875C> T (p.Asp625=) single nucleotide variant Conflicting interpretations of pathogenicity rs200660642 GRCh37 Chromosome X, 153593041: 153593041
24 FLNA NM_001456.3(FLNA): c.1875C> T (p.Asp625=) single nucleotide variant Conflicting interpretations of pathogenicity rs200660642 GRCh38 Chromosome X, 154364673: 154364673
25 FLNA NM_001456.3(FLNA): c.2449C> T (p.Pro817Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200053635 GRCh37 Chromosome X, 153590902: 153590902
26 FLNA NM_001456.3(FLNA): c.2449C> T (p.Pro817Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200053635 GRCh38 Chromosome X, 154362534: 154362534
27 FLNA NM_001456.3(FLNA): c.3285C> T (p.Ala1095=) single nucleotide variant Conflicting interpretations of pathogenicity rs199530601 GRCh37 Chromosome X, 153588878: 153588878
28 FLNA NM_001456.3(FLNA): c.3285C> T (p.Ala1095=) single nucleotide variant Conflicting interpretations of pathogenicity rs199530601 GRCh38 Chromosome X, 154360510: 154360510
29 FLNA NM_001456.3(FLNA): c.3876C> T (p.His1292=) single nucleotide variant Benign/Likely benign rs199917719 GRCh37 Chromosome X, 153588203: 153588203
30 FLNA NM_001456.3(FLNA): c.3876C> T (p.His1292=) single nucleotide variant Benign/Likely benign rs199917719 GRCh38 Chromosome X, 154359835: 154359835
31 FLNA NM_001456.3(FLNA): c.4420G> A (p.Asp1474Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs782129236 GRCh37 Chromosome X, 153587406: 153587406
32 FLNA NM_001456.3(FLNA): c.4420G> A (p.Asp1474Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs782129236 GRCh38 Chromosome X, 154359038: 154359038
33 FLNA NM_001456.3(FLNA): c.4737G> C (p.Leu1579=) single nucleotide variant Benign/Likely benign rs201904661 GRCh37 Chromosome X, 153586585: 153586585
34 FLNA NM_001456.3(FLNA): c.4737G> C (p.Leu1579=) single nucleotide variant Benign/Likely benign rs201904661 GRCh38 Chromosome X, 154358217: 154358217
35 FLNA NM_001456.3(FLNA): c.7198G> A (p.Gly2400Ser) single nucleotide variant Benign/Likely benign rs201168500 GRCh37 Chromosome X, 153578510: 153578510
36 FLNA NM_001456.3(FLNA): c.7198G> A (p.Gly2400Ser) single nucleotide variant Benign/Likely benign rs201168500 GRCh38 Chromosome X, 154350142: 154350142
37 FLNA NM_001456.3(FLNA): c.7482C> T (p.Gly2494=) single nucleotide variant Benign/Likely benign rs200195310 GRCh37 Chromosome X, 153578063: 153578063
38 FLNA NM_001456.3(FLNA): c.7482C> T (p.Gly2494=) single nucleotide variant Benign/Likely benign rs200195310 GRCh38 Chromosome X, 154349695: 154349695
39 FLNA NM_001456.3(FLNA): c.7662C> T (p.Ala2554=) single nucleotide variant Benign rs76337075 GRCh37 Chromosome X, 153577800: 153577800
40 FLNA NM_001456.3(FLNA): c.7662C> T (p.Ala2554=) single nucleotide variant Benign rs76337075 GRCh38 Chromosome X, 154349432: 154349432
41 FLNA NM_001456.3(FLNA): c.732C> T (p.Pro244=) single nucleotide variant Benign/Likely benign rs371092631 GRCh37 Chromosome X, 153595901: 153595901
42 FLNA NM_001456.3(FLNA): c.732C> T (p.Pro244=) single nucleotide variant Benign/Likely benign rs371092631 GRCh38 Chromosome X, 154367533: 154367533
43 FLNA NM_001456.3(FLNA): c.901C> T (p.Arg301Trp) single nucleotide variant Uncertain significance rs192609440 GRCh37 Chromosome X, 153595186: 153595186
44 FLNA NM_001456.3(FLNA): c.901C> T (p.Arg301Trp) single nucleotide variant Uncertain significance rs192609440 GRCh38 Chromosome X, 154366818: 154366818
45 FLNA NM_001456.3(FLNA): c.1029C> T (p.Ser343=) single nucleotide variant Conflicting interpretations of pathogenicity rs199853721 GRCh37 Chromosome X, 153594966: 153594966
46 FLNA NM_001456.3(FLNA): c.1029C> T (p.Ser343=) single nucleotide variant Conflicting interpretations of pathogenicity rs199853721 GRCh38 Chromosome X, 154366598: 154366598
47 FLNA NM_001456.3(FLNA): c.5999-10C> G single nucleotide variant Benign/Likely benign rs72616474 GRCh37 Chromosome X, 153581582: 153581582
48 FLNA NM_001456.3(FLNA): c.5999-10C> G single nucleotide variant Benign/Likely benign rs72616474 GRCh38 Chromosome X, 154353214: 154353214
49 FLNA NM_001456.3(FLNA): c.4517C> T (p.Thr1506Ile) single nucleotide variant Uncertain significance rs797045579 GRCh38 Chromosome X, 154358526: 154358526
50 FLNA NM_001456.3(FLNA): c.4517C> T (p.Thr1506Ile) single nucleotide variant Uncertain significance rs797045579 GRCh37 Chromosome X, 153586894: 153586894

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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17 ExPASy
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