eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| acrodysostosis | ||||
| Disease ID | 357 |
|---|---|
| Disease | acrodysostosis |
| Definition | Acrodysostosis also known as Arkless-Graham syndrome[1] or Maroteaux-Malamut syndrome[2][3] is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, intellectual disability in approximately 90% of affected children, and peculiar facies. Other common abnormalities include short head (as measured front to back), small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur. - Wikipedia Reference: https://en.wikipedia.org/wiki/acrodysostosis |
| Synonym | acrdys1 acrdys2 acrodysostosis (disorder) acrodysostosis 1 with or without hormone resistance acrodysostosis 2, with or without hormone resistance acrodysplasia arkless-graham syndrome maroteaux-malamut syndrome nasal hypoplasia-peripheral dysostosis-mental retardation syndrome peripheral dysostosis peripheral dysostosis-nasal hypoplasia-mental retardation (pnm) syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0220659 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:12) 84890 | ADO | 2.307 | DISEASES 501 | ALDH7A1 | 1.721 | DISEASES 1385 | CREB1 | 2.508 | DISEASES 2778 | GNAS | 4.969 | DISEASES 3347 | HTN3 | 2.436 | DISEASES 5142 | PDE4B | 3.666 | DISEASES 5144 | PDE4D | 6.278 | DISEASES 5573 | PRKAR1A | 6.22 | DISEASES 5745 | PTH1R | 3.944 | DISEASES 5744 | PTHLH | 2.005 | DISEASES 10411 | RAPGEF3 | 2.374 | DISEASES 11069 | RAPGEF4 | 2.423 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 357 |
|---|---|
| Disease | acrodysostosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:43) HP:0000028 | Cryptorchidism HP:0011800 | Midface retrusion HP:0010978 | Abnormality of immune system physiology HP:0003196 | Short nose HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand HP:0002818 | Abnormality of the radius HP:0004322 | Short stature HP:0000365 | Hearing impairment HP:0000248 | Brachycephaly HP:0005280 | Depressed nasal bridge HP:0000135 | Hypogonadism HP:0001156 | Brachydactyly syndrome HP:0000303 | Mandibular prognathia HP:0008843 | Hip osteoarthritis HP:0009830 | Peripheral neuropathy HP:0000316 | Hypertelorism HP:0000684 | Delayed eruption of teeth HP:0000194 | Open mouth HP:0000858 | Menstrual irregularities HP:0010049 | Short metacarpal HP:0003022 | Hypoplasia of the ulna HP:0001831 | Short toe HP:0000286 | Epicanthus HP:0003312 | Abnormal form of the vertebral bodies HP:0000457 | Depressed nasal ridge HP:0002984 | Hypoplasia of the radius HP:0000327 | Hypoplasia of the maxilla HP:0001163 | Abnormality of the metacarpal bones HP:0000431 | Wide nasal bridge HP:0003416 | Spinal canal stenosis HP:0005616 | Accelerated skeletal maturation HP:0001249 | Intellectual disability HP:0000995 | Melanocytic nevus HP:0001597 | Abnormality of the nail HP:0010743 | Short metatarsal HP:0009803 | Hypoplastic/small phalanges of the hand HP:0010655 | Epiphyseal stippling HP:0010807 | Open bite HP:0000463 | Anteverted nares HP:0010579 | Cone-shaped epiphysis HP:0002997 | Abnormality of the ulna HP:0000055 | Abnormality of female external genitalia HP:0002983 | Micromelia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 357 |
|---|---|
| Disease | acrodysostosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0037944 | spinal stenosis |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:2) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| GNAS | c.167T>C, p.I56T | doi:10.1038/gim.2015.129 | Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing |
| PDE4D | c.1346G>A, p.G449D | doi:10.1038/gim.2015.129 | Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:11) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs387906692 | 22723333 | 5144 | PDE4D | umls:C0220659 | BeFree | Recently, mutations of PRKAR1A and PDE4D downstream of GNAS on the cAMP-mediated G protein-coupled receptor (GPCR) signaling cascade have been identified in acrodysostosis with and without hormone resistance, although functional studies have been performed only for p.R368X of PRKAR1A. | 0.122714419 | 2012 | PRKAR1A | 17 | 68530405 | C | T |
| rs387906692 | 22723333 | 2778 | GNAS | umls:C0220659 | BeFree | Recently, mutations of PRKAR1A and PDE4D downstream of GNAS on the cAMP-mediated G protein-coupled receptor (GPCR) signaling cascade have been identified in acrodysostosis with and without hormone resistance, although functional studies have been performed only for p.R368X of PRKAR1A. | 0.000271442 | 2012 | PRKAR1A | 17 | 68530405 | C | T |
| rs387906744 | NA | 5144 | PDE4D | umls:C3553250 | CLINVAR | NA | 0.24 | NA | PDE4D | 5 | 58975718 | T | G |
| rs397514464 | NA | 5144 | PDE4D | umls:C3553250 | CLINVAR | NA | 0.24 | NA | PDE4D | 5 | 59193511 | G | T |
| rs397514465 | NA | 5144 | PDE4D | umls:C3553250 | CLINVAR | NA | 0.24 | NA | PDE4D | 5 | 59193507 | A | G,C |
| rs397514466 | NA | 5144 | PDE4D | umls:C3553250 | CLINVAR | NA | 0.24 | NA | PDE4D | 5 | 59215856 | A | C |
| rs397514467 | NA | 5144 | PDE4D | umls:C3553250 | CLINVAR | NA | 0.24 | NA | PDE4D | 5 | 58976421 | T | G |
| rs397514468 | NA | 5144 | PDE4D | umls:C3553250 | CLINVAR | NA | 0.24 | NA | PDE4D | 5 | 59193502 | G | C |
| rs397514469 | NA | 5144 | PDE4D | umls:C3553250 | CLINVAR | NA | 0.24 | NA | PDE4D | 5 | 58975076 | C | T |
| rs397515433 | NA | 5144 | PDE4D | umls:C3553250 | CLINVAR | NA | 0.24 | NA | PDE4D;LOC105378990 | 5 | 59038869 | G | A |
| rs587777188 | NA | 5144 | PDE4D | umls:C3553250 | CLINVAR | NA | 0.24 | NA | PDE4D | 5 | 58975061 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:22) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0000457 | Depressed nasal ridge | MP:0004872 | absent nasal septum | absence of the structure that separates the two nasal cavities |
| 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:0010743 | Short metatarsal | MP:0004635 | short metatarsal bones | reduced length of the five bones of the hindpaws that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges |
| HP:0005280 | Depressed nasal bridge | MP:0013582 | abnormal lateral nasal gland morphology | any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those d |
| HP:0008843 | Hip osteoarthritis | MP:0003560 | osteoarthritis | a type of arthritis that results in the breakdown and eventual loss of the auricular cartilage of one or more joints |
| HP:0010978 | Abnormality of immune system physiology | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| 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: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:0003416 | Spinal canal stenosis | MP:0010884 | esophagus stenosis | abnormal narrowing or constriction of the esophagus |
| HP:0003312 | Abnormal form of the vertebral bodies | 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:0001597 | Abnormality of the nail | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0011800 | Hypoplasia of midface | 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:0000055 | Abnormality of female external genitalia | 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: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 |
| 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:0000327 | Hypoplasia of the maxilla | 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:0000684 | Delayed eruption of teeth | 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: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: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:0010230 | Cone-shaped epiphyses of the phalanges of the hand | 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:0005616 | Accelerated skeletal maturation | MP:0003378 | early sexual maturation | pubertal changes occur at an earlier than normal age |
Mapped by homologous gene(Total Items:42) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000327 | Hypoplasia of the maxilla | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010743 | Short metatarsal | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000303 | Mandibular prognathia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0005616 | Accelerated skeletal maturation | 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:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000995 | Melanocytic nevus | 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:0010049 | Short metacarpal | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0004322 | Short stature | 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:0000135 | Hypogonadism | 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: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: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:0000028 | Cryptorchidism | 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:0000248 | Brachycephaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0005280 | Depressed nasal bridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0000457 | Depressed nasal ridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001597 | Abnormality of the nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000194 | Open mouth | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0010655 | Epiphyseal stippling | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002983 | Micromelia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001831 | Short toe | 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:0010807 | Open bite | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0000055 | Abnormality of female external genitalia | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| HP:0001163 | Abnormality of the metacarpal bones | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000286 | Epicanthus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000684 | Delayed eruption of teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003312 | Abnormal form of the vertebral bodies | 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:0008843 | Hip osteoarthritis | 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:0010978 | Abnormality of immune system physiology | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| 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:0003416 | Spinal canal stenosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000858 | Menstrual irregularities | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0011800 | Hypoplasia of midface | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000431 | Wide nasal bridge | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand | 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 | 357 |
|---|---|
| Disease | acrodysostosis |
| Case | (Waiting for update.) |