eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| bohring-opitz syndrome | ||||
| Disease ID | 1365 |
|---|---|
| Disease | bohring-opitz syndrome |
| Definition | Syndrome with characteristics of intrauterine growth retardation, failure to thrive, facial dysmorphism, flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported. |
| Synonym | bohring opitz syndrome bohring opitz syndrome (disorder) bohring syndrome bops c-like syndrome opitz trigonocephaly-like syndrome |
| Orphanet | |
| OMIM | |
| UMLS | C0796232 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) ASXL1 | 20q11.21 |
| Disease ID | 1365 |
|---|---|
| Disease | bohring-opitz syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:55) HP:0001263 | Global developmental delay HP:0010864 | Intellectual disability, severe HP:0000520 | Proptosis HP:0100874 | Thick hair HP:0002079 | Hypoplasia of the corpus callosum HP:0005487 | Prominent metopic ridge HP:0000545 | Myopia HP:0002119 | Ventriculomegaly HP:0000365 | Hearing impairment HP:0000243 | Trigonocephaly HP:0001376 | Limitation of joint mobility HP:0010306 | Short thorax HP:0007413 | Nevus flammeus of the forehead HP:0000582 | Upslanted palpebral fissure HP:0000369 | Low-set ears HP:0002558 | Supernumerary nipple HP:0000486 | Strabismus HP:0002564 | Malformation of the heart and great vessels HP:0000316 | Hypertelorism HP:0000204 | Cleft upper lip HP:0001522 | Death in infancy HP:0009465 | Ulnar deviation of finger HP:0000774 | Narrow chest HP:0001511 | Intrauterine growth retardation HP:0002120 | Cerebral cortical atrophy HP:0011968 | Feeding difficulties HP:0001773 | Short foot HP:0002020 | Gastroesophageal reflux HP:0001250 | Seizures HP:0000175 | Cleft palate HP:0000077 | Abnormality of the kidney HP:0000593 | Abnormality of the anterior chamber HP:0000293 | Full cheeks HP:0000252 | Microcephaly HP:0000294 | Low anterior hairline HP:0003042 | Elbow dislocation HP:0000664 | Synophrys HP:0000191 | Accessory oral frenulum HP:0001508 | Failure to thrive HP:0000926 | Platyspondyly HP:0000431 | Wide nasal bridge HP:0000023 | Inguinal hernia HP:0001305 | Dandy-Walker malformation HP:0006610 | Wide intermamillary distance HP:0000278 | Retrognathia HP:0000998 | Hypertrichosis HP:0001883 | Talipes HP:0000488 | Retinopathy HP:0000444 | Convex nasal ridge HP:0002566 | Intestinal malrotation HP:0004422 | Biparietal narrowing HP:0009891 | Underdeveloped supraorbital ridges HP:0001732 | Abnormality of the pancreas HP:0100490 | Camptodactyly of finger HP:0001561 | Polyhydramnios |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1365 |
|---|---|
| Disease | bohring-opitz syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0271183 | high myopia |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:2) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| Bohring-Opitz syndrome | ASXL1 | NM_015338, c.1544_1545delTG (p.V515Gfs*13) | doi:10.1038/gim.2015.186 |
| Bohring-Opitz syndrome | ASXL1 | NM_015338, c.1117C>T (p.Q373*) | doi:10.1038/gim.2015.186 |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs119477056 | 17847009 | 10225 | CD96 | umls:C0796232 | BeFree | In mutation analysis of nine karyotypically normal patients given diagnoses of the C or C-like syndrome, we identified a missense mutation (839C-->T, T280M) in exon 6 of the CD96 gene in one patient with the C-like syndrome. | 0.120271442 | 2007 | CD96 | 3 | 111585362 | C | A,T |
| rs200702600 | NA | 171023 | ASXL1 | umls:C0796232 | CLINVAR | NA | 0.361085767 | NA | ASXL1 | 20 | 32435795 | C | A,T |
| rs373145711 | NA | 171023 | ASXL1 | umls:C0796232 | CLINVAR | NA | 0.361085767 | NA | ASXL1 | 20 | 32433408 | C | T |
| rs387907077 | NA | 171023 | ASXL1 | umls:C0796232 | CLINVAR | NA | 0.361085767 | NA | ASXL1 | 20 | 32435485 | C | T |
| rs387907078 | NA | 171023 | ASXL1 | umls:C0796232 | CLINVAR | NA | 0.361085767 | NA | ASXL1 | 20 | 32434909 | C | T |
| rs397515401 | NA | 171023 | ASXL1 | umls:C0796232 | CLINVAR | NA | 0.361085767 | NA | ASXL1 | 20 | 32435605 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:21) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0001376 | Limitation of joint mobility | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| 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:0001511 | Intrauterine growth retardation | MP:0011109 | lethality throughout fetal growth and development, 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 the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| HP:0001773 | Short 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:0100490 | Camptodactyly 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 |
| HP:0001732 | Abnormality of the pancreas | MP:0014230 | dilated crypts of Lieberkuhn | |
| HP:0000023 | Inguinal hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
| HP:0002120 | Cerebral cortical atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain 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 chan |
| HP:0002079 | Hypoplasia of the corpus callosum | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0009465 | Ulnar deviation of finger | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0000294 | Low anterior hairline | MP:0004784 | abnormal anterior cardinal vein morphology | any structural anomaly of the two paired veins draining the cephalic part of the body |
| HP:0000582 | Upslanted palpebral fissure | MP:0012535 | abnormal optic fissure closure | failure to initiate and/or complete closure of the transient gap in the ventral margin of the developing optic cup; fusion of the optic fissure begins with apposition of the inferior lips of the ventral-most optic cup and continues anteriorly toward its r |
| 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: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:0000444 | Convex nasal ridge | MP:0004471 | short nasal bone | reduced length of either of two rectangular bone plates forming the bridge of the nose |
| HP:0001522 | Death in infancy | MP:0000790 | abnormal stratification in cerebral cortex | abnormal formation or pattern of the layers of the cerebral cortex |
| HP:0000204 | Cleft upper lip | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0000593 | Abnormality of the anterior chamber | MP:0010709 | absent anterior chamber | absence 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:0000077 | Abnormality of the kidney | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
Mapped by homologous gene(Total Items:53) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000278 | Retrognathia | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000998 | Hypertrichosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001883 | Talipes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010306 | Short thorax | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001773 | Short foot | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0009465 | Ulnar deviation of finger | MP:0013901 | absent female preputial gland | absence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attracti |
| HP:0000774 | Narrow chest | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002120 | Cerebral cortical atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0100874 | Thick hair | MP:0011400 | lethality, complete penetrance | all individuals of a given genotype in a population die before the end of the normal lifespan but time(s) of death are unspecified |
| 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:0001522 | Death in infancy | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002119 | Ventriculomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0006610 | Wide intermamillary distance | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0002566 | Intestinal malrotation | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0001376 | Limitation of joint mobility | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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: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:0000204 | Cleft upper lip | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001511 | Intrauterine growth retardation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0011968 | Feeding difficulties | 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:0000191 | Accessory oral frenulum | MP:0013205 | abnormal nonmotile primary cilium morphology | any structural anomaly of a primary cilium which contains a variable array of axonemal microtubules but does not contain molecular motors; nonmotile primary cilia are found on many different cell types and function as sensory organelles that concentrate a |
| HP:0001305 | Dandy-Walker malformation | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0000077 | Abnormality of the kidney | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0003042 | Elbow dislocation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000664 | Synophrys | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0100490 | Camptodactyly of finger | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000444 | Convex nasal ridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000582 | Upslanted palpebral fissure | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0002558 | Supernumerary nipple | MP:0013550 | abnormal secondary palate morphology | |
| HP:0001263 | Global developmental delay | 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: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: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:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010864 | Intellectual disability, severe | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002020 | Gastroesophageal reflux | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0000294 | Low anterior hairline | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004422 | Biparietal narrowing | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0009891 | Underdeveloped supraorbital ridges | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001732 | Abnormality of the pancreas | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0000488 | Retinopathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002079 | Hypoplasia of the corpus callosum | 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:0000545 | Myopia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000926 | Platyspondyly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005487 | Prominent metopic ridge | MP:0014125 | decreased amylin secretion | reduction in the production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiety a |
| HP:0000023 | Inguinal hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000369 | Low-set ears | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000243 | Trigonocephaly | MP:0014124 | increased amylin secretion | greater than normal production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiet |
| HP:0000293 | Full cheeks | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| 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:0000431 | Wide nasal bridge | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000593 | Abnormality of the anterior chamber | 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 |
| Disease ID | 1365 |
|---|---|
| Disease | bohring-opitz syndrome |
| Case | (Waiting for update.) |