eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| acromicric dysplasia | ||||
| Disease ID | 1530 |
|---|---|
| Disease | acromicric dysplasia |
| Definition | Acromicric Dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation leading to short stature, and mild facial abnormalities. Most cases have occurred randomly for no apparent reason (sporadically). However, autosomal dominant inheritance has not been ruled out. - NORD Reference: NORD |
| Synonym | acmicd acromicric dysplasia (disorder) acromicric skeletal dysplasia |
| Orphanet | |
| OMIM | |
| UMLS | C0265287 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 1530 |
|---|---|
| Disease | acromicric dysplasia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:40) HP:0010049 | Metacarpal hypoplasia HP:0000160 | Narrow mouth HP:0000311 | Round facial shape HP:0001072 | Pachydermia HP:0003300 | Oval vertebral bodies HP:0003196 | Short nose HP:0000463 | Nostrils anteverted HP:0002002 | Increased depth of philtrum HP:0000527 | Long eyelashes HP:0005930 | Abnormality of epiphysis morphology HP:0003026 | shortened long tubular bones HP:0000343 | Vertical hyperplasia of philtrum HP:0001156 | Brachydactyly syndrome HP:0005900 | Fifth metacarpal notched on ulnar side HP:0004279 | Hypoplastic hands HP:0000343 | Long philtrum HP:0003510 | Proportionate dwarfism HP:0004279 | Short palm HP:0002823 | Abnormality of the femur HP:0000179 | Plump lower lip HP:0001609 | Hoarse voice HP:0010049 | Short metacarpal HP:0010579 | Cone-shaped epiphyses HP:0005900 | Fifth metacarpal with ulnar notch HP:0002750 | Delayed bone maturation HP:0001609 | Hoarseness HP:0000762 | Decreased nerve conduction velocity HP:0000311 | Round face HP:0200055 | Small hand HP:0009803 | Hypoplastic/small phalanges of the hand HP:0000179 | Thick lower lip vermilion HP:0003300 | Ovoid vertebral bodies HP:0003510 | Severe short stature HP:0001387 | Joint stiffness HP:0002750 | Delayed skeletal maturation HP:0000160 | Small mouth HP:0001773 | Small feet HP:0000463 | Anteverted nares HP:0000414 | Bulbous nose HP:0000534 | Abnormality of the eyebrow |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1530 |
|---|---|
| Disease | acromicric 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:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs113994121 | NA | 9719 | ADAMTSL2 | umls:C0265287 | CLINVAR | NA | 0.24 | NA | ADAMTSL2 | 9 | 133540625 | C | T |
| rs113994122 | NA | 9719 | ADAMTSL2 | umls:C0265287 | CLINVAR | NA | 0.24 | NA | ADAMTSL2 | 9 | 133539799 | G | A |
| rs113994123 | NA | 9719 | ADAMTSL2 | umls:C0265287 | CLINVAR | NA | 0.24 | NA | ADAMTSL2 | 9 | 133539801 | G | A |
| rs113994124 | NA | 9719 | ADAMTSL2 | umls:C0265287 | CLINVAR | NA | 0.24 | NA | ADAMTSL2 | 9 | 133570346 | G | A |
| rs113994125 | NA | 9719 | ADAMTSL2 | umls:C0265287 | CLINVAR | NA | 0.24 | NA | ADAMTSL2 | 9 | 133570501 | G | A |
| rs387907064 | NA | 9719 | ADAMTSL2 | umls:C0265287 | CLINVAR | NA | 0.24 | NA | ADAMTSL2 | 9 | 133537529 | G | A |
| rs387907065 | NA | 9719 | ADAMTSL2 | umls:C0265287 | CLINVAR | NA | 0.24 | NA | ADAMTSL2 | 9 | 133540980 | 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:18) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001072 | Thickened skin | MP:0009932 | skin fibrosis | invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury |
| HP:0000311 | Round face | MP:0012546 | triangular face | a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia |
| HP:0000179 | Thick lower lip vermilion | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0001387 | Joint stiffness | MP:0003098 | decreased tendon stiffness | reduced ability of tendon to maintain tensile strength and load |
| HP:0005900 | Fifth metacarpal with ulnar notch | 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: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:0009803 | Short phalanx of finger | 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: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:0003196 | Short nose | MP:0002233 | abnormal nose morphology | any structural anomaly of the organ that is specialized for smell and is part of the respiratory system |
| HP:0000534 | Abnormality of the eyebrow | 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:0003510 | Severe short stature | MP:0004355 | short radius | reduced length of the short bone of the lateral forearm |
| HP:0002823 | Abnormality of the femur | 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:0000160 | Narrow mouth | MP:0000452 | abnormal mouth morphology | any structural anomaly of the oral cavity |
| HP:0010049 | Short 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:0003026 | Short long bone | MP:0013618 | decreased areal bone mineral density | reduction of the mineral mass per unit area of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; expressed as the amount of mineral per area cm^2 of bone (usually in g/c |
| HP:0003300 | Ovoid vertebral bodies | MP:0004704 | short vertebral column | decreased rostral-caudal length of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord |
| HP:0000762 | Decreased nerve conduction velocity | MP:0008814 | decreased nerve conduction velocity | decrease in the rate at which an electrical impulse travels through a nerve |
| HP:0002750 | Delayed skeletal maturation | MP:0003379 | absent sexual maturation | failure to initiate pubertal changes that result in achievement of full sexual capacity |
Mapped by homologous gene(Total Items:28) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005930 | Abnormality of epiphysis morphology | 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:0001609 | Hoarse voice | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0200055 | Small hand | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000463 | Anteverted nares | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0010049 | Short metacarpal | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001072 | Thickened skin | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0003196 | Short nose | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0005900 | Fifth metacarpal with ulnar notch | MP:0011108 | embryonic lethality during organogenesis, 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 embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0003026 | Short long bone | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010579 | Cone-shaped epiphysis | 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:0002002 | Deep philtrum | 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: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:0003300 | Ovoid vertebral bodies | 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:0000160 | Narrow mouth | 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:0004279 | Short palm | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000311 | Round face | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000179 | Thick lower lip vermilion | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000343 | Long philtrum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000414 | Bulbous nose | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001387 | Joint stiffness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002750 | Delayed skeletal maturation | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000762 | Decreased nerve conduction velocity | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002823 | Abnormality of the femur | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000527 | Long eyelashes | MP:0013956 | decreased colon length | reduced length of the portion of the large intestine between the cecum and the rectum |
| HP:0000534 | Abnormality of the eyebrow | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009803 | Short phalanx of finger | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 1530 |
|---|---|
| Disease | acromicric dysplasia |
| Case | (Waiting for update.) |