MCID: MLN014
MIFTS: 40

Melnick-Needles Syndrome 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 49 11 45 22 23 47 51 67 24 65
Mns 45 22 23 67
 
Melnick-Needles Osteodysplasty 45 23 51
Osteodysplasty of Melnick and Needles 45 23

Characteristics:

Orphanet epidemiological data:

51
melnick-needles syndrome:
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

61
melnick-needles syndrome:
Mortality/Aging: stillbirth
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM49 309350
Orphanet51 2484
ICD10 via Orphanet28 Q77.8
UMLS via Orphanet66 C0025237
MedGen34 C0025237
UMLS65 C0025237

Summaries for Melnick-Needles Syndrome

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OMIM:49 Melnick-Needles syndrome is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. These disorders,... (309350) more...

MalaCards based summary: Melnick-Needles Syndrome, also known as mns, is related to otopalatodigital syndrome, type i and otopalatodigital syndrome, type ii, and has symptoms including long toe, short thorax and short stature. An important gene associated with Melnick-Needles Syndrome is FLNA (Filamin A). Affiliated tissues include bone, kidney and heart.

Genetics Home Reference:23 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).

NIH Rare Diseases:45 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.  this condition is caused by a mutation in the flna gene, and it has x-linked dominant inheritance. last updated: 4/30/2015

UniProtKB/Swiss-Prot:67 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.

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 top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1otopalatodigital syndrome, type i30.5FLNA, FSHMD1A, GYPB
2otopalatodigital syndrome, type ii30.3FLNA, FSHMD1A, GYPB
3frontometaphyseal dysplasia29.9FLNA, FSHMD1A, GYPB
4frank-ter haar syndrome11.9
5obesity11.0
6prostate cancer10.4
7prostatitis10.4
8neuroblastoma10.3
9breast cancer10.3
10osteoporosis10.3
11exfoliation syndrome10.3
12dravet syndrome10.3
13peyronie's disease10.3
14hemangioma10.3
15hemophagocytic lymphohistiocytosis10.3
16pancreatic ductal adenocarcinoma10.3
17paroxysmal nocturnal hemoglobinuria10.3
18aphasia10.3
19lymphoma10.3
20anosognosia10.3
21ehrlichiosis10.3
22strongyloidiasis10.3
23nephrotic syndrome10.3
24goiter10.3
25polyneuropathy10.3
26lymphangioma10.3
27giant cell tumor10.3
28papilloma10.3
29sick building syndrome10.3
30adenocarcinoma10.3
31cystic lymphangioma10.3
32retinitis10.3
33pancreatitis10.3
34demyelinating polyneuropathy10.3
35dystonia10.3
36hemoglobinuria10.3
37compartment syndrome10.3
38hyperthyroidism10.3
39mediastinitis10.3
40chronic fatigue syndrome10.3
41vitreous detachment10.3
42lipomyelomeningocele10.3
43torsion dystonia10.3
44endotheliitis10.3
45fg syndrome 29.4FLNA, FSHMD1A, GYPB
46intestinal pseudoobstruction, neuronal9.4FLNA, FSHMD1A, GYPB
47terminal osseous dysplasia9.4FLNA, FSHMD1A, GYPB
48melnick-needles syndrome9.3FLNA, FSHMD1A, GYPB
49hemolytic anemia due to g6pd deficiency9.3FLNA, FSHMD1A, GYPB
50heterotopia, periventricular, ed variant9.3FLNA, FSHMD1A, GYPB

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



Diseases related to melnick-needles syndrome

Symptoms for Melnick-Needles Syndrome

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Symptoms by clinical synopsis from OMIM:

309350

Clinical features from OMIM:

309350

Symptoms:

 51 (show all 38)
  • large fontanelle/delayed fontanelle closure
  • hypertelorism
  • prominent supraorbital ridge
  • proptosis/exophthalmos
  • micrognathia/retrognathia/micrognathism/retrognathism
  • hypoplastic mandibula/partial absence of the mandibula
  • narrow rib cage/thorax
  • short rib cage/thorax
  • long hand/arachnodactyly
  • long foot/arachnodactyly of toes
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • metaphyseal anomaly
  • bowed diaphysis/diaphyses/long bones
  • cortical anomaly/thick bone cortical layer
  • x-linked dominant inheritance
  • short stature/dwarfism/nanism
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • frontal bossing/prominent forehead
  • broad cheeks/cherub-like/cherubin face
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • anodontia/oligodontia/hypodontia
  • hearing loss/hypoacusia/deafness
  • clavicle absent/abnormal
  • rib structure anomalies
  • scoliosis
  • abnormal vertebral size/shape
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • metacarpal anomalies/archibald's sign
  • terminal/third phalangeal bone of fingers hypoplasia
  • repeat respiratory infections
  • cardiac septal defect
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • vesicorenal/vesicoureteral reflux
  • hyperextensible joints/articular hyperlaxity
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • omphalocele/exomphalos
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • stillbirth/neonatal death

HPO human phenotypes related to Melnick-Needles Syndrome:

(show all 77)
id Description Frequency HPO Source Accession
1 long toe hallmark (90%) HP:0010511
2 short thorax hallmark (90%) HP:0010306
3 short stature hallmark (90%) HP:0004322
4 abnormal cortical bone morphology hallmark (90%) HP:0003103
5 skeletal dysplasia hallmark (90%) HP:0002652
6 arachnodactyly hallmark (90%) HP:0001166
7 abnormality of the metaphyses hallmark (90%) HP:0000944
8 narrow chest hallmark (90%) HP:0000774
9 proptosis hallmark (90%) HP:0000520
10 micrognathia hallmark (90%) HP:0000347
11 prominent supraorbital ridges hallmark (90%) HP:0000336
12 hypertelorism hallmark (90%) HP:0000316
13 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
14 short distal phalanx of finger typical (50%) HP:0009882
15 reduced number of teeth typical (50%) HP:0009804
16 craniofacial hyperostosis typical (50%) HP:0004493
17 abnormal form of the vertebral bodies typical (50%) HP:0003312
18 abnormality of the hip bone typical (50%) HP:0003272
19 scoliosis typical (50%) HP:0002650
20 recurrent respiratory infections typical (50%) HP:0002205
21 frontal bossing typical (50%) HP:0002007
22 abnormality of the cardiac septa typical (50%) HP:0001671
23 joint hypermobility typical (50%) HP:0001382
24 abnormality of the metacarpal bones typical (50%) HP:0001163
25 abnormality of the clavicle typical (50%) HP:0000889
26 abnormality of the ribs typical (50%) HP:0000772
27 hearing impairment typical (50%) HP:0000365
28 facial asymmetry typical (50%) HP:0000324
29 full cheeks typical (50%) HP:0000293
30 vesicoureteral reflux typical (50%) HP:0000076
31 respiratory insufficiency occasional (7.5%) HP:0002093
32 omphalocele occasional (7.5%) HP:0001539
33 frontal hirsutism HP:0011335
34 cone-shaped epiphyses of the phalanges of the hand HP:0010230
35 short distal phalanx of finger HP:0009882
36 osteolytic defects of the phalanges of the hand HP:0009771
37 short humerus HP:0005792
38 obtuse angle of mandible HP:0005446
39 anterior concavity of thoracic vertebrae HP:0004611
40 flared metaphysis HP:0003015
41 tibial bowing HP:0002982
42 genu valgum HP:0002857
43 hip dislocation HP:0002827
44 kyphoscoliosis HP:0002751
45 coxa valga HP:0002673
46 coarse hair HP:0002208
47 recurrent respiratory infections HP:0002205
48 pulmonary hypertension HP:0002092
49 pes planus HP:0001763
50 talipes equinovarus HP:0001762
51 tricuspid valve prolapse HP:0001704
52 mitral valve prolapse HP:0001634
53 hoarse voice HP:0001609
54 omphalocele HP:0001539
55 failure to thrive HP:0001508
56 limited elbow extension HP:0001377
57 gait disturbance HP:0001288
58 motor delay HP:0001270
59 short clavicles HP:0000894
60 hypoplastic scapulae HP:0000882
61 narrow chest HP:0000774
62 pectus excavatum HP:0000767
63 misalignment of teeth HP:0000692
64 delayed eruption of teeth HP:0000684
65 proptosis HP:0000520
66 strabismus HP:0000486
67 long neck HP:0000472
68 recurrent otitis media HP:0000403
69 macrotia HP:0000400
70 micrognathia HP:0000347
71 prominent supraorbital ridges HP:0000336
72 hypertelorism HP:0000316
73 small face HP:0000274
74 delayed cranial suture closure HP:0000270
75 cleft palate HP:0000175
76 hydronephrosis HP:0000126
77 ureteral stenosis HP:0000071

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 Syndrome22 FLNA

Anatomical Context for Melnick-Needles Syndrome

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MalaCards organs/tissues related to Melnick-Needles Syndrome:

33
Bone, Kidney, Heart, Lung, Eye, Myeloid, Monocytes

Animal Models for Melnick-Needles Syndrome or affiliated genes

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Publications for Melnick-Needles Syndrome

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Articles related to Melnick-Needles Syndrome:

(show all 47)
idTitleAuthorsYear
1
Pregnancy-associated plasma protein-A expression in human breast cancer. (25468445)
2014
2
Advances in the technology of corneal cross-linking for keratoconus. (25320955)
2014
3
Abdominal necrotizing fasciitis due to Pasteurella multocida infection. (25651662)
2014
4
Elucidation of toxicity pathways in lung epithelial cells induced by silicon dioxide nanoparticles. (24023737)
2013
5
A review of nanotechnological approaches for the prophylaxis of HIV/AIDS. (23726227)
2013
6
Picomolar concentrations of free zinc(II) ions regulate receptor protein-tyrosine phosphatase I^ activity. (22275360)
2012
7
Familial acromegaly - case study of two sisters with acromegaly. (22144223)
2011
8
Nonsurgical endodontic management using MTA for perforative defect of internal root resorption: report of a long term follow-up. (21112535)
2010
9
Characterization of IP-associated protein, 70 kd (ZAP70)-deficient human lymphocytes. (20864151)
2010
10
A novel splice-site mutation of ATP2A2 gene in a Chinese family with Darier disease. (20857128)
2010
11
Older subjects with hyperthyroidism present with a paucity of symptoms and signs: a large cross-sectional study. (20392869)
2010
12
Knowledge and attitude regarding human immunodeficiency virus/acquired immunodeficiency syndrome in dermatological outpatients. (19486230)
2009
13
Hyaline globules in ectopic decidua in a pregnant woman with cervical squamous cell carcinoma. (19526574)
2009
14
Virus receptor trap neutralizes coxsackievirus in experimental murine viral myocarditis. (16806133)
2006
15
Diffuse micronodular pulmonary metastasis of lung adenocarcinoma predicts gefitinib response in association with epidermal growth factor receptor mutations. (16619582)
2006
16
Dosage-sensitive sex reversal adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (DAX1) (NR0B1) and small heterodimer partner (SHP) (NR0B2) form homodimers individually, as well as DAX1-SHP heterodimers. (16709599)
2006
17
Overexpression of HMGA2-LPP fusion transcripts promotes expression of the alpha 2 type XI collagen gene. (16375854)
2006
18
Epiphysiodesis of the greater trochanter in Legg-CalvAc-Perthes disease: The importance of timing. (16889142)
2006
19
Correction of cavovarus foot deformity in Charcot-Marie-Tooth disease. (15832156)
2005
20
The GxxxG-containing transmembrane domain of the CCK4 oncogene does not encode preferential self-interactions. (15683231)
2005
21
Growth hormone secretion in primary adrenal Cushing's syndrome is disorderly and inversely correlated with body mass index. (15328071)
2005
22
Calmodulin interacts with the cytoplasmic tails of the parathyroid hormone 1 receptor and a sub-set of class b G-protein coupled receptors. (15670850)
2005
23
A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa. (15465556)
2004
24
Massive lower gastrointestinal bleeding in typhoid fever. (15521256)
2004
25
High dose intravenous immune globulin in the treatment of hereditary recurrent brachial plexus neuropathy. (12640095)
2003
26
Disturbances of Na/K balance: pseudohypoaldosteronism revisited. (12191985)
2002
27
Fractalkine (CX3CL1) and brain inflammation: Implications for HIV-1-associated dementia. (12476352)
2002
28
Achalasia, alacrima, adrenal insufficiency, and autonomic dysfunction: double A, triple A, or quaternary A syndrome? (11698772)
2001
29
Human Nod1 confers responsiveness to bacterial lipopolysaccharides. (11058605)
2001
30
A molecular basis for Wolff-Parkinson-White syndrome. (11407351)
2001
31
Kyphomelic dysplasia: a report of a family with an autosomal dominant pattern. (10526661)
1999
32
Pilot study of zatosetron (LY277359) maleate, a 5-hydroxytryptamine-3 antagonist, in the treatment of anxiety. (10211913)
1999
33
NVP-DPP728 (1-[[[2-[(5-cyanopyridin-2-yl)amino]ethyl]amino]acetyl]-2-cyano-(S)- pyrrolidine), a slow-binding inhibitor of dipeptidyl peptidase IV. (10512614)
1999
34
The TIGR gene, pathogenic mechanisms, and other recent advances in glaucoma genetics. (10180507)
1998
35
Haemorheological consequences of hyperglycaemic spike in healthy volunteers and insulin-dependent diabetics. (9849923)
1998
36
Absence of association between genetic variation of the beta 3-adrenergic receptor and metabolic phenotypes in Oji-Cree. (9589254)
1998
37
Vascularized iliac bone graft for avascular necrosis of the femoral head. (9137185)
1997
38
Perianal Bowen's disease: a clinicopathologic study of 47 patients. (9369101)
1997
39
Functional role for the myeloid differentiation antigen CD14 in the activation of human monocytes by IL-2. (9300716)
1997
40
Homozygous nonsense mutation in the insulin receptor gene of a patient with severe congenital insulin resistance: leprechaunism and the role of the insulin-like growth factor receptor. (8881457)
1996
41
Membrane-bound Steel factor induces more persistent tyrosine kinase activation and longer life span of c-kit gene-encoded protein than its soluble form. (7530502)
1995
42
Extrathoracic reconstruction of arterial occlusive disease involving the supraaortic trunks. (7674463)
1995
43
Pulmonary emphysema followed by pulmonary fibrosis of undetermined cause. (8290801)
1993
44
Alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype. (1301941)
1992
45
Myeloproliferative disease with megakaryocytic predominance in a dog with occult dirofilariasis. (15311376)
1982
46
Metabolism of albumin and fibrinogen in patients with tropical sprue. (4884957)
1969
47
Contributions to the study of intrarachidian localisation of distoma (paragonimiasis). (13497624)
1957

Variations for Melnick-Needles Syndrome

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

67
id Symbol AA change Variation ID SNP ID
1FLNAp.Ala1188ThrVAR_015703rs28935472
2FLNAp.Ser1199LeuVAR_015704rs28935473
3FLNAp.Asp1184GluVAR_015720

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)single nucleotide variantPathogenicrs28935472GRCh37Chr X, 153588601: 153588601
2FLNANM_001110556.1(FLNA): c.3596C> T (p.Ser1199Leu)single nucleotide variantPathogenicrs28935473GRCh37Chr X, 153588567: 153588567
3FLNANM_001110556.1(FLNA): c.3552C> A (p.Asp1184Glu)single nucleotide variantPathogenicrs80338837GRCh37Chr 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet