eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| acromesomelic dysplasia | ||||
| Disease ID | 1308 |
|---|---|
| Disease | acromesomelic dysplasia |
| Definition | Acromesomelic dysplasia is a rare skeletal disorder that causes abnormal bone and cartilage development, leading to shortening of the forearms, lower legs, hands, feet, fingers, and toes. Five different genetic mutations have been implicated. Treatment is individualized but is generally aimed at palliating symptoms, for example, treatment of kyphosis and lumbar hyperlordosis.[1] - Wikipedia Reference: https://en.wikipedia.org/wiki/acromesomelic dysplasia |
| Synonym | acromesomelic dwarfism acromesomelic dwarfism maroteux type acromesomelic dysplasia (disorder) acromesomelic dysplasia group acromesomelic dysplasia group (disorder) acromesomelic dysplasia hunter thompson type acromesomelic dysplasia hunter-thompson type acromesomelic dysplasia syndrome acromesomelic dysplasia syndrome (disorder) acromesomelic dysplasia syndrome (disorder) [ambiguous] acromesomelic dysplasia, hunter-thompson type amdh st helena dysplasia st. helena dysplasia |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C2930970 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:11) 2261 | FGFR3 | 1.246 | DISEASES 25801 | GCA | 4.106 | DISEASES 8200 | GDF5 | 5.518 | DISEASES 2980 | GUCA2A | 3.029 | DISEASES 3109 | HLA-DMB | 2.533 | DISEASES 4881 | NPR1 | 3.613 | DISEASES 4882 | NPR2 | 7.318 | DISEASES 23467 | NPTXR | 4.25 | DISEASES 344901 | OSTN | 4.13 | DISEASES 6473 | SHOX | 2.235 | DISEASES 30968 | STOML2 | 4.16 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1308 |
|---|---|
| Disease | acromesomelic dysplasia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:17) HP:0002986 | Bowed radii HP:0000954 | Simian creases HP:0003042 | Radiocapitellar dislocation HP:0006110 | Shortened middle finger bones HP:0005736 | Short tibia HP:0003038 | Hypoplastic fibula HP:0001773 | Small feet HP:0002827 | Hip dislocation HP:0003086 | Acromesomelia HP:0006011 | Short, cube shaped long bone of hand HP:0006144 | Shortening of all innermost bones of the fingers HP:0008890 | Severe short-limb dwarfism HP:0009778 | Small thumbs HP:0002984 | Hypoplastic radius HP:0003022 | Short ulna HP:0005096 | Distal femoral bowing HP:0006014 | Abnormally shaped carpal bones |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:4) |
| Disease ID | 1308 |
|---|---|
| Disease | acromesomelic 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:0) | |
|---|---|
| (Waiting for update.) | |
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:0006144 | Shortening of all proximal phalanges of the fingers | MP:0008163 | increased diameter of ulna | increased width of the cross-sectional distance that extends from one lateral edge of the ulna, through its center and to the opposite lateral edge |
| HP:0002984 | Hypoplasia of the radius | 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:0005736 | Short tibia | MP:0002764 | short tibia | reduced length of the medial and larger bone of the lower leg |
| HP:0003038 | Fibular hypoplasia | MP:0010881 | esophagus hypoplasia | underdevelopment or decreased size of the esophagus, usually due a reduced number of cells |
| HP:0006014 | Abnormally shaped carpal bones | MP:0008915 | fused carpal bones | anomaly of the nine nodular bones of the joint between the forelimb bones and the front paws/hands resulting in some or all the bones being joined together |
| 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:0003022 | Hypoplasia of the ulna | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
| HP:0006011 | Cuboidal metacarpal | MP:0004634 | short metacarpal bones | reduced length of the five bones of the forepaws that articulate proximally with the carpal bones and distally with the phalanges |
| 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 |
Mapped by homologous gene(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005736 | Short tibia | 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: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:0002984 | Hypoplasia of the radius | 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:0003022 | Hypoplasia of the ulna | 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:0006144 | Shortening of all proximal phalanges of the fingers | 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:0003038 | Fibular hypoplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000954 | Single transverse palmar crease | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002986 | Radial bowing | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002827 | Hip dislocation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006014 | Abnormally shaped carpal bones | MP:0011504 | abnormal limb long bone morphology | any structural anomaly of any of the several elongated bones of the extremities |
| HP:0003042 | Elbow dislocation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009778 | Short thumb | MP:0020040 | decreased bone ossification | decrease 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:0003086 | Acromesomelia | 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:0005096 | Distal femoral bowing | MP:0011504 | abnormal limb long bone morphology | any structural anomaly of any of the several elongated bones of the extremities |
| 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:0006011 | Cuboidal metacarpal | MP:0011504 | abnormal limb long bone morphology | any structural anomaly of any of the several elongated bones of the extremities |
| 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 |
| Disease ID | 1308 |
|---|---|
| Disease | acromesomelic dysplasia |
| Case | (Waiting for update.) |