eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| langer mesomelic dysplasia | ||||
| Disease ID | 1582 |
|---|---|
| Disease | langer mesomelic dysplasia |
| Definition | An autosomal recessive condition caused by mutation (s) in the SHOX gene, encoding short stature homeobox protein. The condition is characterized by shortening of the bones of the middle segments of the limbs. |
| Synonym | dyschondrosteosis homozygous dyschondrosteosis, homozygous homozygous dyschondrosteosis homozygous leri-weill dyschondrosteosis syndrome langer mesomelic dwarfism langer mesomelic dyspalsia langer mesomelic dysplasia syndrome langer mesomelic dysplasia syndrome (disorder) langer type of mesomelic dwarfism mesomelic dwarfism langer type mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type mesomelic dysplasia - langer type |
| Orphanet | |
| OMIM | |
| UMLS | C0432230 |
| 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) SHOX | Xp22.33 |
| Disease ID | 1582 |
|---|---|
| Disease | langer mesomelic dysplasia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:13) HP:0008873 | Disproportionate short-limb short stature HP:0006487 | Bowing of the long bones HP:0006492 | Aplasia/Hypoplasia of the fibula HP:0003510 | Severe short stature HP:0001191 | Abnormality of the carpal bones HP:0005026 | Mesomelic/rhizomelic limb shortening HP:0005930 | Abnormality of epiphysis morphology HP:0009465 | Ulnar deviation of finger HP:0000218 | High palate HP:0002997 | Abnormality of the ulna HP:0003067 | Madelung deformity HP:0002983 | Micromelia HP:0100864 | Short femoral neck |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1582 |
|---|---|
| Disease | langer mesomelic dysplasia |
| 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:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137852556 | 15173321 | 6473 | SHOX | umls:C0432230 | BeFree | Functional analysis of a missense mutation R173C (C517T) affecting the identified SHOX-NLS in two families with LWS and LD showed that the mutated SHOX protein is unable to enter the nucleus. | 0.484071628 | 2004 | SHOX | Y;X | 640851;640851 | C | T |
| rs137852557 | NA | 6473 | SHOX | umls:C0432230 | CLINVAR | NA | 0.484071628 | NA | SHOX | Y;X | 640836;640836 | C | T |
| rs397514461 | 21712857 | 6473 | SHOX | umls:C0432230 | BeFree | In conclusion, we have identified A170P as the first frequent SHOX mutation in Gypsy LWD and LMD individuals. | 0.484071628 | 2011 | SHOX | Y;X | 640842;640842 | G | C |
| rs397514461 | NA | 6473 | SHOX | umls:C0432230 | CLINVAR | NA | 0.484071628 | NA | SHOX | Y;X | 640842;640842 | G | C |
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:0001191 | Abnormality of the carpal bones | MP:0004251 | failure of heart looping | failure of the primitive heart tube to loop asymmetrically during early development |
| HP:0006487 | Bowing of the long bones | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0005930 | Abnormality of epiphysis morphology | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| 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:0000218 | High palate | MP:0011615 | submucous cleft palate | a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate |
| 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: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:0003510 | Severe short stature | MP:0004355 | short radius | reduced length of the short bone of the lateral forearm |
| HP:0008873 | Disproportionate short-limb short stature | MP:0004672 | short ribs | reduced length of the bones forming the bony wall of the chest |
Mapped by homologous gene(Total Items:13) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003067 | Madelung deformity | MP:0013400 | abnormal endometrial gland development | aberrant formation or incomplete differentiation of the simple or branched tubular glands found in the mucus membrane of the uterus |
| HP:0005930 | Abnormality of epiphysis morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0002983 | Micromelia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003510 | Severe short stature | 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: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:0100864 | Short femoral neck | 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:0008873 | Disproportionate short-limb short stature | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000218 | High palate | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0005026 | Mesomelic/rhizomelic limb shortening | 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:0006487 | Bowing of the long bones | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001191 | Abnormality of the carpal bones | MP:0011953 | prolonged PQ interval | increase in the length of time between the beginning of atrial depolarization and the end of atrial repolarization (or recovery), measured by the interval from the beginning of the P wave to the end of the Q wave |
| Disease ID | 1582 |
|---|---|
| Disease | langer mesomelic dysplasia |
| Case | (Waiting for update.) |