MNS
MCID: MLN014
MIFTS: 35

Melnick-Needles Syndrome (MNS) malady

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

Aliases & Classifications for Melnick-Needles Syndrome

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Aliases & Descriptions for Melnick-Needles Syndrome:

Name: Melnick-Needles Syndrome 52 48 24 25 54 70 27 12 50 68
Mns 48 24 25 70
 
Melnick-Needles Osteodysplasty 48 25 54
Osteodysplasty of Melnick and Needles 48 25

Characteristics:

Orphanet epidemiological data:

54
melnick-needles syndrome:
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

64
melnick-needles syndrome:
Inheritance: x-linked dominant inheritance
Mortality/Aging: stillbirth

Classifications:



External Ids:

OMIM52 309350
Orphanet54 ORPHA2484
UMLS via Orphanet69 C0025237
ICD10 via Orphanet31 Q77.8
MedGen37 C0025237

Summaries for Melnick-Needles Syndrome

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NIH Rare Diseases:48 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. last updated: 2/15/2017

MalaCards based summary: Melnick-Needles Syndrome, also known as MNS, is related to frontometaphyseal dysplasia and otopalatodigital syndrome, type ii, and has symptoms including hoarseness, hoarseness and ureteral stenosis. An important gene associated with Melnick-Needles Syndrome is FLNA (Filamin A). Affiliated tissues include bone, kidney and heart.

UniProtKB/Swiss-Prot:70 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.

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:52 Melnick-Needles syndrome is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. These disorders,... (309350) more...

Related Diseases for Melnick-Needles Syndrome

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

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1frontometaphyseal dysplasia11.7
2otopalatodigital syndrome, type ii11.6
3otopalatodigital syndrome, type i11.3
4frank-ter haar syndrome11.2
5otopalatodigital syndrome10.1
6atelosteogenesis, type i9.9
7boomerang dysplasia9.9
8atelosteogenesis9.9
9sleep apnea9.9
10obstructive sleep apnea9.9
11omphalocele9.9
12epilepsy9.9
13tricuspid valve prolapse9.9
14growth hormone deficiency9.9

Graphical network of diseases related to Melnick-Needles Syndrome:



Diseases related to melnick-needles syndrome

Symptoms & Phenotypes for Melnick-Needles Syndrome

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Symptoms by clinical synopsis from OMIM:

309350

Clinical features from OMIM:

309350

Human phenotypes related to Melnick-Needles Syndrome:

 64 (show all 45)
id Description HPO Frequency HPO Source Accession
1 ureteral stenosis64 HP:0000071
2 hydronephrosis64 HP:0000126
3 cleft palate64 HP:0000175
4 delayed cranial suture closure64 HP:0000270
5 small face64 HP:0000274
6 hypertelorism64 HP:0000316
7 prominent supraorbital ridges64 HP:0000336
8 micrognathia64 HP:0000347
9 macrotia64 HP:0000400
10 recurrent otitis media64 HP:0000403
11 long neck64 HP:0000472
12 strabismus64 HP:0000486
13 proptosis64 HP:0000520
14 delayed eruption of teeth64 HP:0000684
15 misalignment of teeth64 HP:0000692
16 pectus excavatum64 HP:0000767
17 narrow chest64 HP:0000774
18 hypoplastic scapulae64 HP:0000882
19 short clavicles64 HP:0000894
20 motor delay64 HP:0001270
21 gait disturbance64 HP:0001288
22 limited elbow extension64 HP:0001377
23 failure to thrive64 HP:0001508
24 omphalocele64 HP:0001539
25 hoarse voice64 HP:0001609
26 mitral valve prolapse64 HP:0001634
27 tricuspid valve prolapse64 HP:0001704
28 talipes equinovarus64 HP:0001762
29 pes planus64 HP:0001763
30 pulmonary arterial hypertension64 HP:0002092
31 recurrent respiratory infections64 HP:0002205
32 coarse hair64 HP:0002208
33 coxa valga64 HP:0002673
34 kyphoscoliosis64 HP:0002751
35 hip dislocation64 HP:0002827
36 genu valgum64 HP:0002857
37 tibial bowing64 HP:0002982
38 flared metaphysis64 HP:0003015
39 anterior concavity of thoracic vertebrae64 HP:0004611
40 obtuse angle of mandible64 HP:0005446
41 short humerus64 HP:0005792
42 osteolytic defects of the phalanges of the hand64 HP:0009771
43 short distal phalanx of finger64 HP:0009882
44 cone-shaped epiphyses of the phalanges of the hand64 HP:0010230
45 frontal hirsutism64 HP:0011335

UMLS symptoms related to Melnick-Needles Syndrome:


hoarseness

Drugs & Therapeutics for Melnick-Needles Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Melnick-Needles Syndrome

Genetic Tests for Melnick-Needles Syndrome

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Genetic tests related to Melnick-Needles Syndrome:

id Genetic test Affiliating Genes
1 Melnick-Needles Syndrome27 24 FLNA

Anatomical Context for Melnick-Needles Syndrome

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MalaCards organs/tissues related to Melnick-Needles Syndrome:

36
Bone, Kidney, Heart, Eye

Publications for Melnick-Needles Syndrome

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Articles related to Melnick-Needles Syndrome:

(show all 48)
idTitleAuthorsYear
1
Maxillofacial Changes in Melnick-Needles Syndrome. (27478655)
2016
2
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
3
Correction of spine deformity in patients with Melnick-needles syndrome: report of 2 cases and literature review. (23389572)
2013
4
Orthognathic surgery in Melnick-Needles-Syndrome. Case report and review of the literature. (22014680)
2012
5
Mandibular distraction osteogenesis reconstructed the upper airway in a case of Melnick-Needles syndrome. (20437066)
2011
6
Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome. (21031081)
2010
7
Chronic temporomandibular joint dislocation by mandibular distraction in a patient with Melnick-needles syndrome. (20072009)
2010
8
Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome. (20186808)
2010
9
Melnick-Needles syndrome associated with growth hormone deficiency: a case report. (21274303)
2009
10
Mandibular distraction osteogenesis in a patient with Melnick-Needles syndrome. (18216701)
2008
11
Audiological outcomes after cochlear implantation in a patient with Melnick-Needles syndrome. (18568526)
2008
12
Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. (16926860)
2007
13
Melnick-Needles Syndrome: report of a case associated with bilateral hypoplasia of the cochlea. (17569979)
2007
14
The high-resolution chest CT findings in an adult with Melnick-Needles syndrome. (16919559)
2006
15
Melnick-Needles syndrome with obstructive sleep apnea successfully treated with nasal continuous positive airway pressure ventilation. (16440074)
2006
16
Melnick-Needles syndrome and GH-deficiency: a possible new association feature. (16402013)
2005
17
Fibular lengthening procedure: treatment for lateral instability of the ankle caused by fibular insufficiency in Melnick-Needles syndrome. (15076585)
2004
18
Phenotypic variation in Melnick-Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear. (11857561)
2002
19
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. (10706363)
2000
20
Infant with manifestations of oto-palato-digital syndrome type II and of Melnick-Needles syndrome. (10377016)
1999
21
Clinical and radiological aspects in Melnick-Needles syndrome. (10513069)
1999
22
Noncompaction of the ventricular myocardium in Melnick-Needles syndrome. (9215772)
1997
23
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
24
Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred. (9268106)
1997
25
Melnick-Needles syndrome in a mother and her son. (8831131)
1996
26
Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. (7778598)
1995
27
Melnick Needles syndrome. (8635812)
1995
28
Melnick-Needles syndrome. (8024513)
1994
29
Emergency tracheostomy in a patient with Melnick-Needles syndrome and sleep apnoea. (15125292)
1993
30
Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders. (8276023)
1993
31
Case report 717. Osteodysplasty (Melnick-Needles syndrome). (1566112)
1992
32
Melnick-Needles syndrome. Four new cases. (1523045)
1992
33
Urological manifestations of the Melnick-Needles syndrome: a case report and review of the literature. (2016783)
1991
34
Mitral valve and tricuspidal valve prolapse in Melnick-Needles syndrome. (1743220)
1991
35
Melnick-Needles syndrome (osteodysplasty) in an older male--report of a case and a review of the literature. (1913051)
1991
36
Serpentine fibula--polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity? (3409932)
1988
37
Hyperlaxity in males with Melnick-Needles syndrome. (3377003)
1988
38
Melnick-Needles syndrome in males. (3605193)
1987
39
Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome. (3605194)
1987
40
Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity. (3793511)
1986
41
The nature of the mandibular lesion in Melnick-Needles syndrome. (6695089)
1984
42
Melnick-Needles syndrome: osteodysplasty with kyphoscoliosis. (6874941)
1983
43
Osteodysplasty (Melnick-Needles syndrome) in a male. (7163256)
1982
44
Melnick-Needles syndrome: indication for an autosomal recessive form. (7158646)
1982
45
Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick-Needles syndrome). (7158644)
1982
46
Melnick-Needles syndrome: radiographic alterations in the mandible. (663242)
1978
47
Melnick-Needles syndrome. (105122)
1978
48
Osteodysplastia (Melnick-Needles syndrome). Radiological quiz. (847141)
1977

Variations for Melnick-Needles Syndrome

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

70
id Symbol AA change Variation ID SNP ID
1FLNAp.Ala1188ThrVAR_015703rs28935472
2FLNAp.Ser1199LeuVAR_015704rs28935473
3FLNAp.Asp1184GluVAR_015720rs80338837

Clinvar genetic disease variations for Melnick-Needles Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FLNANM_ 001110556.1(FLNA): c.3562G> A (p.Ala1188Thr)SNVPathogenicrs28935472GRCh37Chr X, 153588601: 153588601
2FLNANM_ 001110556.1(FLNA): c.3596C> T (p.Ser1199Leu)SNVPathogenicrs28935473GRCh37Chr X, 153588567: 153588567
3FLNANM_ 001110556.1(FLNA): c.3552C> A (p.Asp1184Glu)SNVPathogenicrs80338837GRCh37Chr X, 153588611: 153588611

Expression for genes affiliated with Melnick-Needles Syndrome

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

Pathways for genes affiliated with Melnick-Needles Syndrome

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GO Terms for genes affiliated with Melnick-Needles Syndrome

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Sources for Melnick-Needles Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet