eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| proximal symphalangism | ||||
| Disease ID | 729 |
|---|---|
| Disease | proximal symphalangism |
| Definition | An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. [url:http://omim.org/entry/185800?search=185800&highlight=185800, url:http://rarediseases.info.nih.gov/gard/8182/cushings-symphalangism/resources/1, url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3250] - NORD Reference: NORD |
| Synonym | cushing symphalangism cushing's symphalangism hereditary absence of proximal interphalangeal joints hereditary absence of the proximal interphalangeal joints strasburger-hawkins-eldridge syndrome strasburger-hawkins-eldridge-hargrave-mckusick syndrome symphalangism, proximal vessel's syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1861385 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:6) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 729 |
|---|---|
| Disease | proximal symphalangism |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:15) HP:0100264 | Proximal symphalangism HP:0005880 | Metacarpophalangeal synostosis HP:0006101 | Finger syndactyly HP:0008368 | Tarsal synostosis HP:0003070 | Elbow ankylosis HP:0005048 | Synostosis of carpal bones HP:0000486 | Strabismus HP:0003042 | Elbow dislocation HP:0003019 | Abnormality of the wrist HP:0001163 | Abnormality of the metacarpal bones HP:0100490 | Camptodactyly of finger HP:0000407 | Sensorineural hearing impairment HP:0040019 | Finger clinodactyly HP:0004209 | Clinodactyly of the 5th finger HP:0001156 | Brachydactyly syndrome |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 729 |
|---|---|
| Disease | proximal symphalangism |
| 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:10) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894602 | NA | 9241 | NOG | umls:C1861385 | CLINVAR | NA | 0.365700279 | NA | NOG | 17 | 56594888 | A | G |
| rs104894608 | NA | 9241 | NOG | umls:C1861385 | CLINVAR | NA | 0.365700279 | NA | NOG | 17 | 56594891 | C | T |
| rs104894609 | NA | 9241 | NOG | umls:C1861385 | CLINVAR | NA | 0.365700279 | NA | NOG | 17 | 56594788 | G | T |
| rs104894611 | NA | 9241 | NOG | umls:C1861385 | CLINVAR | NA | 0.365700279 | NA | NOG | 17 | 56594327 | C | G |
| rs104894612 | NA | 9241 | NOG | umls:C1861385 | CLINVAR | NA | 0.365700279 | NA | NOG | 17 | 56594774 | G | A |
| rs104894613 | NA | 9241 | NOG | umls:C1861385 | CLINVAR | NA | 0.365700279 | NA | NOG | 17 | 56594609 | T | A |
| rs121434419 | 16957682 | 658 | BMPR1B | umls:C1861385 | BeFree | Here, we describe a novel mutation in BMPR1B (R486Q) that is associated with either BDA2 or a BDC/SYM1-like phenotype. | 0.000271442 | 2006 | BMPR1B | 4 | 95154621 | G | A |
| rs121908948 | NA | 9241 | NOG | umls:C1861385 | CLINVAR | NA | 0.365700279 | NA | NOG | 17 | 56594887 | T | G |
| rs140047318 | 16957682 | 658 | BMPR1B | umls:C1861385 | BeFree | Here, we describe a novel mutation in BMPR1B (R486Q) that is associated with either BDA2 or a BDC/SYM1-like phenotype. | 0.000271442 | 2006 | BMPR1B | 4 | 95152757 | G | A,T |
| rs28937580 | NA | 9241 | NOG | umls:C1861385 | CLINVAR | NA | 0.365700279 | NA | NOG | 17 | 56594326 | C | 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:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0003070 | Elbow ankylosis | MP:0013264 | tongue ankylosis | partial or complete fusion or adherence of the tongue to the floor of the mouth, resulting in varying degrees of restricted tongue mobility; partial ankyloglossia (aka tongue-tie) is caused by a lingual frenulum that is abnormally short or is attached too |
| HP:0004209 | Clinodactyly of the 5th finger | 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 |
| HP:0008368 | Tarsal synostosis | MP:0000566 | synostosis | osseous union of two bones that are not normally connected |
| 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:0003019 | Abnormality of the wrist | 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:0005048 | Synostosis of carpal bones | 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: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 |
Mapped by homologous gene(Total Items:13) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003019 | Abnormality of the wrist | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000407 | Sensorineural hearing 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:0004209 | Clinodactyly of the 5th finger | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0005880 | Metacarpophalangeal synostosis | 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:0005048 | Synostosis of carpal bones | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0003070 | Elbow ankylosis | MP:0014152 | absent exorbital lacrimal gland | absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland |
| HP:0003042 | Elbow dislocation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008368 | Tarsal synostosis | 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:0001156 | Brachydactyly syndrome | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0100490 | Camptodactyly of finger | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006101 | Finger syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 729 |
|---|---|
| Disease | proximal symphalangism |
| Case | (Waiting for update.) |