eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| melnick-needles syndrome | ||||
| Disease ID | 913 |
|---|---|
| Disease | melnick-needles syndrome |
| Synonym | melnick needle syndrome melnick needles osteodysplasty melnick needles syndrome melnick-needles osteodysplasty melnick-needles syndrome (disorder) mns osteodysplasty osteodysplasty of melnick and needles osteodysplasty, melnick-needles |
| Orphanet | |
| OMIM | |
| UMLS | C0025237 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) FLNA | Xq28 |
| Disease ID | 913 |
|---|---|
| Disease | melnick-needles syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:45) HP:0000894 | Short clavicles HP:0000767 | Funnel chest HP:0000486 | Squint eyes HP:0001704 | Tricuspid valve prolapse HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand HP:0000347 | Hypoplasia of mandible HP:0000336 | Prominent supraorbital ridges HP:0000316 | Increased distance between eye sockets HP:0002205 | Frequent respiratory infections HP:0005446 | High mandibular plane angle HP:0009882 | Hypoplastic terminal phalanges HP:0000472 | Increased cervical length HP:0009771 | Acro-osteolysis HP:0000126 | Hydronephrosis HP:0002092 | Pulmonary artery hypertension HP:0001762 | Talipes equinovarus HP:0000684 | Delayed eruption of teeth HP:0000071 | Narrowing of the ureter HP:0000175 | Palatoschisis HP:0003015 | Metaphyseal splaying HP:0001377 | Restricted elbow extension HP:0001270 | Motor retardation HP:0011335 | Frontal hirsutism HP:0002982 | Bowed tibia HP:0002751 | Kyphoscoliosis HP:0001288 | Gait disturbance HP:0000400 | Large ears HP:0000403 | Otitis media, recurrent HP:0001609 | Hoarseness HP:0000774 | Low chest circumference HP:0001508 | Weight faltering HP:0001539 | Omphalocele HP:0000882 | Hypoplastic scapula HP:0002857 | Genu valgum HP:0000692 | Malpositioned teeth HP:0000520 | Anterior bulging of the globe of eye HP:0002208 | Coarse hair texture HP:0001634 | Mitral valve prolapse HP:0002827 | Hip dislocation HP:0001763 | Pes planus HP:0005792 | Short upper arms HP:0000270 | Late closing fontanelles HP:0000274 | Hypoplasia of face HP:0004611 | Anteriorly concave vertebrae HP:0002673 | Coxa valga |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 913 |
|---|---|
| Disease | melnick-needles syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0600033 | kyphoscoliosis |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs28935472 | NA | 2316 | FLNA | umls:C0025237 | CLINVAR | NA | 0.441085767 | NA | FLNA | X | 154360233 | C | T |
| rs28935472 | 12612583 | 2316 | FLNA | umls:C0025237 | UNIPROT | We identified localized mutations in FLNA that conserve the reading frame and lead to a broad range of congenital malformations, affecting craniofacial structures, skeleton, brain, viscera and urogenital tract, in four X-linked human disorders: otopalatodigital syndrome types 1 (OPD1; OMIM 311300) and 2 (OPD2; OMIM 304120), frontometaphyseal dysplasia (FMD; OMIM 305620) and Melnick-Needles syndrome (MNS; OMIM 309350). | 0.441085767 | 2003 | FLNA | X | 154360233 | C | T |
| rs28935473 | NA | 2316 | FLNA | umls:C0025237 | CLINVAR | NA | 0.441085767 | NA | FLNA | X | 154360199 | G | A |
| rs28935473 | 12612583 | 2316 | FLNA | umls:C0025237 | UNIPROT | We identified localized mutations in FLNA that conserve the reading frame and lead to a broad range of congenital malformations, affecting craniofacial structures, skeleton, brain, viscera and urogenital tract, in four X-linked human disorders: otopalatodigital syndrome types 1 (OPD1; OMIM 311300) and 2 (OPD2; OMIM 304120), frontometaphyseal dysplasia (FMD; OMIM 305620) and Melnick-Needles syndrome (MNS; OMIM 309350). | 0.441085767 | 2003 | FLNA | X | 154360199 | G | A |
| rs80338837 | NA | 2316 | FLNA | umls:C0025237 | CLINVAR | NA | 0.441085767 | NA | FLNA | X | 154360243 | G | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:18) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0005446 | Obtuse angle of mandible | MP:0009886 | failure of palatal shelf elevation | the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue |
| HP:0000403 | Recurrent otitis media | MP:0009873 | abnormal aorta tunica media morphology | any structural anomaly of the middle layer of the aorta wall, containing the smooth muscle layer and elastic fibers |
| HP:0000270 | Delayed cranial suture closure | MP:0010743 | delayed suture closure | late onset of the fusion of the bones of the skull |
| HP:0000692 | Misalignment of teeth | MP:0010919 | increased number of pulmonary neuroendocrine bodies | greater number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the air |
| HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0001704 | Tricuspid valve prolapse | MP:0010620 | thick mitral valve | an increase in the ratio of the mitral valve wall thickness to the atrioventricular septum thickness |
| HP:0002208 | Coarse hair | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
| HP:0005792 | Short humerus | MP:0008160 | increased diameter of humerus | increased width of the cross-sectional distance that extends from one lateral edge of the humerus, through its center and to the opposite lateral edge |
| HP:0001634 | Mitral valve prolapse | MP:0010617 | thick mitral valve cusps | an increase in the ratio of the mitral valve cusp wall thickness to the atrioventricular septum thickness |
| HP:0000774 | Narrow chest | MP:0004134 | abnormal chest morphology | any structural anomaly of the part of the body between the neck and the abdomen |
| HP:0004611 | Anterior concavity of thoracic vertebrae | MP:0009886 | failure of palatal shelf elevation | the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue |
| HP:0009771 | Osteolytic defects of the phalanges of the hand | MP:0009886 | failure of palatal shelf elevation | the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue |
| HP:0002092 | Pulmonary hypertension | MP:0005258 | ocular hypertension | abnormal elevation of the intraocular pressure |
| HP:0002205 | Recurrent respiratory infections | MP:0014182 | decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
| HP:0000684 | Delayed eruption of teeth | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0009882 | Short distal phalanx of finger | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
Mapped by homologous gene(Total Items:45) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000071 | Ureteral stenosis | MP:0012253 | abnormal intersomitic vessel morphology | any structural anomaly of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites |
| HP:0001377 | Limited elbow extension | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0001634 | Mitral valve prolapse | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001609 | Hoarse voice | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000270 | Delayed cranial suture closure | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000774 | Narrow chest | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001704 | Tricuspid valve prolapse | MP:0012253 | abnormal intersomitic vessel morphology | any structural anomaly of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites |
| HP:0000486 | Strabismus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002205 | Recurrent respiratory infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001288 | Gait disturbance | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000882 | Hypoplastic scapulae | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003015 | Flared metaphysis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002673 | Coxa valga | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000347 | Micrognathia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000316 | Hypertelorism | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0009882 | Short distal phalanx of finger | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002092 | Pulmonary hypertension | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005446 | Obtuse angle of mandible | MP:0012253 | abnormal intersomitic vessel morphology | any structural anomaly of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites |
| HP:0000126 | Hydronephrosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000403 | Recurrent otitis media | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0001539 | Omphalocele | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0002827 | Hip dislocation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005792 | Short humerus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000894 | Short clavicles | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000692 | Misalignment of teeth | MP:0014176 | abnormal cilary zonule morphology | any structural anomaly of the circumferential suspensory ligaments that anchor the lens to the ciliary process and are made of bundles of fibrillin microfibrils, an elaborate system of fibers that spans the gap between the lens and the adjacent nonpigment |
| HP:0002208 | Coarse hair | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0002857 | Genu valgum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000472 | Long neck | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0011335 | Frontal hirsutism | MP:0012253 | abnormal intersomitic vessel morphology | any structural anomaly of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites |
| HP:0000274 | Small face | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000767 | Pectus excavatum | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002751 | Kyphoscoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000520 | Proptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000336 | Prominent supraorbital ridges | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000175 | Cleft palate | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000684 | Delayed eruption of teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001762 | Talipes equinovarus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001270 | Motor delay | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000400 | Macrotia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001763 | Pes planus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002982 | Tibial bowing | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0009771 | Osteolytic defects of the phalanges of the hand | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0004611 | Anterior concavity of thoracic vertebrae | MP:0012253 | abnormal intersomitic vessel morphology | any structural anomaly of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites |
| HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 913 |
|---|---|
| Disease | melnick-needles syndrome |
| Case | (Waiting for update.) |