eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| boomerang dysplasia | ||||
| Disease ID | 477 |
|---|---|
| Disease | boomerang dysplasia |
| Definition | Boomerang dysplasia is a lethal form of osteochondrodysplasia known for a characteristic congenital feature in which bones of the arms and legs are malformed into the shape of a boomerang Death usually occurs in early infancy due to complications arising from overwhelming systemic bone malformations.Osteochondrodysplasias are skeletal disorders that cause malformations of both bone and cartilage. - NORD Reference: NORD |
| Synonym | boomerang dysplasia (disorder) boomerang-like skeletal dysplasia dwarfism with short, bowed, rigid limbs and characteristic facies piepkorn dysplasia |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0432201 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:4) |
| Locus | Symbol | Locus(Total Locus:1) FLNB | 3p14.3 |
| Disease ID | 477 |
|---|---|
| Disease | boomerang dysplasia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:28) HP:0000028 | Cryptorchidism HP:0008824 | Small iliac bodies HP:0006492 | Aplasia/Hypoplasia of the fibula HP:0002818 | Abnormality of the radius HP:0000824 | Growth hormone deficiency HP:0000430 | Nasal cartilage hypoplasia HP:0001789 | Hydrops fetalis HP:0006101 | Finger syndactyly HP:0003063 | Abnormality of the humerus HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature HP:0003510 | Proportionate dwarfism HP:0000774 | Narrow chest HP:0002823 | Abnormality of the femur HP:0100569 | Abnormal vertebral ossification HP:0005104 | Decreased size of septum of nose HP:0011849 | Abnormal bone ossification HP:0001163 | Abnormality of the metacarpal bones HP:0001539 | Omphalocele HP:0100856 | Poorly ossified vertebrae HP:0002992 | Abnormality of the tibia HP:0000431 | Broad nasal root HP:0006703 | Aplasia/Hypoplasia of the lungs HP:0003974 | Absent ossification/absence of radius HP:0008890 | Severe short-limb dwarfism HP:0002990 | Absent calf bone HP:0002997 | Abnormality of the ulna HP:0002983 | Micromelia HP:0001561 | Polyhydramnios |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 477 |
|---|---|
| Disease | boomerang dysplasia |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908896 | NA | 2317 | FLNB | umls:C0432201 | CLINVAR | NA | 0.480814326 | NA | FLNB | 3 | 58081692 | T | C |
| rs80356494 | NA | 2317 | FLNB | umls:C0432201 | CLINVAR | NA | 0.480814326 | NA | FLNB | 3 | 58077265 | T | A,G |
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:0006703 | Aplasia/Hypoplasia of the lungs | MP:0010728 | fusion of atlas and occipital bones | union of elements of the atlas and the bone at the lower, posterior part of the skull into one structure |
| HP:0000431 | Wide nasal bridge | MP:0006292 | abnormal nasal placode morphology | any structural anomaly in the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epith |
| HP:0008824 | Hypoplastic iliac body | MP:0003961 | decreased lean body mass | reduced amount of the fat-free physical bulk or volume of the body including all its components except adipose (fat) tissue |
| HP:0006492 | Aplasia/Hypoplasia of the fibula | MP:0009139 | failure of Mullerian duct regression | failure of the transient embryonic paramesonephric ducts, which normally develop into the oviduct, uterus, cervix and upper vagina in the female, to regress in the male; persistence of Mullerian ducts is typically consistent with a loss of anti-Mullerian |
| HP:0100569 | Abnormal vertebral ossification | MP:0004623 | thoracic vertebral fusion | the union of one or more thoracic vertebrae into a single structure |
| HP:0002997 | Abnormality of the ulna | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0003510 | Severe short stature | MP:0004355 | short radius | reduced length of the short bone of the lateral forearm |
| HP:0002823 | Abnormality of the femur | 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:0005104 | Hypoplastic nasal septum | MP:0004471 | short nasal bone | reduced length of either of two rectangular bone plates forming the bridge of the nose |
| HP:0006101 | Finger syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | 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:0000774 | Narrow chest | MP:0004134 | abnormal chest morphology | any structural anomaly of the part of the body between the neck and the abdomen |
| HP:0002992 | Abnormality of the tibia | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| HP:0003063 | Abnormality of the humerus | 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:0003974 | Absent radius | MP:0008951 | long radius | increased length of the short bone of the lateral forearm |
| HP:0000430 | Underdeveloped nasal alae | MP:0004471 | short nasal bone | reduced length of either of two rectangular bone plates forming the bridge of the nose |
| HP:0001163 | Abnormality of the metacarpal bones | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0000824 | Growth hormone deficiency | MP:0003965 | abnormal pituitary hormone level | aberration in the blood or tissue concentration of any of the hormones secreted by the pituitary |
Mapped by homologous gene(Total Items:25) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000774 | Narrow chest | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0006492 | Aplasia/Hypoplasia of the fibula | MP:0011101 | prenatal lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5) |
| HP:0008890 | Severe short-limb dwarfism | MP:0011504 | abnormal limb long bone morphology | any structural anomaly of any of the several elongated bones of the extremities |
| HP:0000824 | Growth hormone deficiency | 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:0001539 | Omphalocele | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000028 | Cryptorchidism | 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:0003063 | Abnormality of the humerus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005104 | Hypoplastic nasal septum | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002997 | Abnormality of the ulna | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0006101 | Finger syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001561 | Polyhydramnios | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001789 | Hydrops fetalis | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0003974 | Absent radius | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002983 | Micromelia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002992 | Abnormality of the tibia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003510 | Severe short stature | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001163 | Abnormality of the metacarpal bones | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0008824 | Hypoplastic iliac body | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000430 | Underdeveloped nasal alae | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002823 | Abnormality of the femur | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002990 | Fibular aplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100569 | Abnormal vertebral ossification | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000431 | Wide nasal bridge | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 477 |
|---|---|
| Disease | boomerang dysplasia |
| Case | (Waiting for update.) |