eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| borjeson-forssman-lehmann syndrome | ||||
| Disease ID | 960 |
|---|---|
| Disease | borjeson-forssman-lehmann syndrome |
| Synonym | bfls borj borjeson syndrome borjeson-forssman-lehmann syndrome (disorder) mental deficiency, epilepsy and endocrine disorders mental deficiency, epilepsy, and endocrine disorders mental retardation, epilepsy, and endocrine disorders mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type mrxsbfl |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0265339 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:9) |
| Locus | Symbol | Locus(Total Locus:1) PHF6 | Xq26.2 |
| Disease ID | 960 |
|---|---|
| Disease | borjeson-forssman-lehmann syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:57) HP:0000639 | Nystagmus HP:0000028 | Cryptorchidism HP:0000518 | Cataract HP:0000581 | Blepharophimosis HP:0004322 | Short stature HP:0008478 | Scheuermann-like vertebral changes HP:0000336 | Prominent supraorbital ridges HP:0000490 | Sunken eyes HP:0000823 | Pubertal delay HP:0008687 | Hypoplastic prostate HP:0000365 | Hearing impairment HP:0008734 | Decreased testicular size HP:0000508 | Ptosis HP:0000135 | Hypogonadism HP:0008736 | Hypoplasia of penis HP:0002684 | Thickened calvarium HP:0000490 | Deeply set eye HP:0004322 | Stature below 3rd percentile HP:0002808 | Gibbus deformity HP:0001831 | Short toes HP:0000771 | Gynaecomastia HP:0008445 | Narrow cervical spinal canal HP:0008094 | Widely spaced toes HP:0010864 | Early and severe mental retardation HP:0005692 | Joint hyperflexibility HP:0009748 | Large earlobe HP:0009830 | Peripheral neuropathy HP:0000574 | Thick eyebrow HP:0008872 | Feeding difficulties in infancy HP:0001252 | Hypotonia HP:0001250 | Seizures HP:0001831 | Short toe HP:0000054 | Short penis HP:0000505 | Poor vision HP:0000252 | Small head circumference HP:0000771 | Gynecomastia HP:0000256 | Macrocephaly HP:0000400 | Large ears HP:0001836 | Camptodactyly of toe HP:0002650 | Scoliosis HP:0000252 | Microcephaly HP:0003272 | Abnormality of the hip bone HP:0001182 | Tapered finger HP:0002353 | Abnormal EEG HP:0000046 | Scrotal hypoplasia HP:0008070 | Sparse hair HP:0001249 | Intellectual disability HP:0000202 | Oral cleft HP:0001769 | Broad foot HP:0006110 | Shortened middle finger bones HP:0001513 | Obesity HP:0001956 | Truncal obesity HP:0000280 | Coarse facial features HP:0001252 | Muscular hypotonia HP:0000508 | Drooping upper eyelid HP:0003202 | Skeletal muscle atrophy HP:0006118 | Shortening of all outermost bones of the fingers |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 960 |
|---|---|
| Disease | borjeson-forssman-lehmann syndrome |
| Manually Symptom | (Waiting for update.) |
| 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:11) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894917 | NA | 84295 | PHF6 | umls:C0265339 | CLINVAR | NA | 0.483800186 | NA | PHF6 | X | 134413937 | A | G |
| rs104894918 | NA | 84295 | PHF6 | umls:C0265339 | CLINVAR | NA | 0.483800186 | NA | PHF6 | X | 134413923 | A | G |
| rs104894919 | NA | 84295 | PHF6 | umls:C0265339 | CLINVAR | NA | 0.483800186 | NA | PHF6 | X | 134415055 | A | G |
| rs132630297 | NA | 84295 | PHF6 | umls:C0265339 | CLINVAR | NA | 0.483800186 | NA | PHF6 | X | 134425256 | C | T |
| rs132630298 | NA | 84295 | PHF6 | umls:C0265339 | CLINVAR | NA | 0.483800186 | NA | PHF6 | X | 134393556 | G | T |
| rs132630299 | NA | 84295 | PHF6 | umls:C0265339 | CLINVAR | NA | 0.483800186 | NA | PHF6 | X | 134377751 | G | A |
| rs132630300 | NA | 84295 | PHF6 | umls:C0265339 | CLINVAR | NA | 0.483800186 | NA | PHF6 | X | 134377619 | T | C |
| rs132630301 | 14714754 | 84295 | PHF6 | umls:C0265339 | BeFree | We describe two brothers with Borjeson-Forssman-Lehmann syndrome and the 22A-->T (Lys8X) PHF6 mutation, who presented with the symptoms and signs of multiple pituitary hormone deficiency. | 0.483800186 | 2003 | PHF6 | X | 134377639 | A | T |
| rs132630301 | NA | 84295 | PHF6 | umls:C0265339 | CLINVAR | NA | 0.483800186 | NA | PHF6 | X | 134377639 | A | T |
| rs28935179 | 23229552 | 84295 | PHF6 | umls:C0265339 | UNIPROT | Mutation of PHF6, which results in the X-linked mental retardation disorder Börjeson-Forssman-Lehmann syndrome, is also present in about 38% of adult T-cell acute lymphoblastic leukemias and 3% of adult acute myeloid leukemias. | 0.483800186 | 2013 | NA | NA | NA | NA | NA |
| rs587777489 | NA | 84295 | PHF6 | umls:C0265339 | CLINVAR | NA | 0.483800186 | NA | PHF6 | X | 134417248 | 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:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| HP:0008734 | Decreased testicular size | MP:0003205 | testicular atrophy | acquired diminution of the size of the testis associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal cha |
| HP:0008070 | Sparse hair | MP:0010202 | focal dorsal hair loss | focal hair loss on the dorsal area of a rodent resulting in dorsal skin visible in a patch where hair loss occurs |
| HP:0001769 | Broad foot | MP:0008138 | absent podocyte foot process | absence of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries |
| HP:0000490 | Deeply set eye | MP:0009829 | enlarged eye anterior chamber | increased size of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens |
| HP:0000202 | Oral cleft | MP:0009890 | cleft secondary palate | congenital fissure of the tissues normally uniting to form the secondary palate |
| HP:0003202 | Skeletal muscle atrophy | MP:0014068 | abnormal muscle glycogen level | the normal concentration of a readily converted carbohydrate reserve in muscle tissue |
| HP:0003272 | Abnormality of the hip bone | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0006110 | Shortening of all middle phalanges of the fingers | 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:0001836 | Camptodactyly of toe | 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:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0000280 | Coarse facial features | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
| HP:0008736 | Hypoplasia of penis | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0000046 | Scrotal hypoplasia | MP:0006226 | iris hypoplasia | underdevelopment or reduced size of the iris, usually due to a reduced number of cells |
| HP:0001956 | Truncal obesity | MP:0005659 | decreased susceptibility to diet-induced obesity | less likely to become excessively overweight or to increase fat in the subcutaneous connective tissue as a result of consuming a diet geared to increase body fat |
Mapped by homologous gene(Total Items:50) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | 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:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001250 | Seizures | 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:0002353 | EEG abnormality | 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:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000054 | Micropenis | 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:0000046 | Scrotal hypoplasia | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0003202 | Skeletal muscle atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0004322 | Short stature | 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:0000135 | Hypogonadism | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0006110 | Shortening of all middle phalanges of the fingers | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001182 | Tapered finger | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0000581 | Blepharophimosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000518 | Cataract | 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:0000490 | Deeply set eye | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| 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:0008445 | Cervical spinal canal stenosis | MP:0011100 | preweaning lethality, complete penetrance | death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0000574 | Thick eyebrow | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0006118 | Shortening of all distal phalanges of the fingers | MP:0011100 | preweaning lethality, complete penetrance | death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0001769 | Broad foot | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0001513 | Obesity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001836 | Camptodactyly of toe | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008734 | Decreased testicular size | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0009748 | Large earlobe | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000823 | Delayed puberty | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001831 | Short toe | 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:0010864 | Intellectual disability, severe | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008872 | Feeding difficulties in infancy | 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:0001956 | Truncal obesity | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000639 | Nystagmus | 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:0008478 | Scheuermann-like vertebral changes | MP:0011100 | preweaning lethality, complete penetrance | death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0000280 | Coarse facial features | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000202 | Oral cleft | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0008736 | Hypoplasia of penis | 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:0008094 | Widely spaced toes | MP:0013278 | decreased fasted circulating glucose level | reduction in the amount of glucose in the blood at some defined time point after eating compared to controls |
| HP:0000400 | Macrotia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0008070 | Sparse hair | 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:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0005692 | Joint hyperflexibility | MP:0012125 | decreased bronchoconstrictive response | reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography |
| HP:0002684 | Thickened calvaria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002808 | Kyphosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000505 | Visual impairment | 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:0000252 | Microcephaly | 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:0003272 | Abnormality of the hip bone | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008687 | Hypoplasia of the prostate | MP:0011100 | preweaning lethality, complete penetrance | death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0000771 | Gynecomastia | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| Disease ID | 960 |
|---|---|
| Disease | borjeson-forssman-lehmann syndrome |
| Case | (Waiting for update.) |