2q37 deletion syndrome |
Disease ID | 1973 |
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Disease | 2q37 deletion syndrome |
Definition | A syndrome of high phenotypic variability caused by contiguous gene deletions in 2q37. The inheritance is autosomal dominant. The condition may be characterized by brachydactly type E; mental retardation; short stature; and other skeletal, cardiovascular, and neurologic manifestations. |
Synonym | albright hereditary osteodystrophy-like syndrome bdmr brachydactyly mental retardation syndrome brachydactyly-mental retardation syndrome chromosome 2, monosomy 2q37 chromosome 2q37 deletion syndrome chromosome 2q37 deletion syndrome (disorder) deletion 2q37 monosomy 2q37 |
Orphanet | |
OMIM | |
UMLS | C2931817 |
SNOMED-CT | |
Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
Inferring Gene | (Waiting for update.) |
Text Mined Gene | (Waiting for update.) |
Locus | (Waiting for update.) |
Disease ID | 1973 |
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Disease | 2q37 deletion syndrome |
Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:24) HP:0010049 | Metacarpal hypoplasia HP:0000311 | Round facial shape HP:0001682 | Subvalvular aortic stenosis HP:0007021 | Absence of pain sensation HP:0011800 | Midface, flat HP:0000248 | Brachycephaly HP:0000283 | Horizontal excess of face HP:0004322 | Stature below 3rd percentile HP:0001831 | Short toes HP:0011675 | Arrhythmias HP:0100716 | Autoagression HP:0001249 | Mental retardation HP:0001250 | Seizures HP:0001263 | Developmental retardation HP:0001265 | Decreased tendon reflexes HP:0000455 | Increased breadth of tip of nose HP:0000272 | Depressed malar region HP:0009803 | Hypoplastic/small phalanges of the hand HP:0001513 | Obesity HP:0010743 | Shortened metatarsals HP:0000407 | sensorineural hearing loss HP:0000964 | Eczema HP:0000752 | Hyperactive behavior HP:0000718 | Aggressive behaviour |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
Disease ID | 1973 |
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Disease | 2q37 deletion syndrome |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
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Gene | Mutation | DOI | Article Title |
2q37 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
Text Mining Genotype(Total Genotypes:0) | |
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(Waiting for update.) |
All Snps(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:0) | |
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(Waiting for update.) |
Mapped by lexical matching(Total Items:10) | ||||
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HP ID | HP Name | MP ID | MP Name | Annotation |
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:0000718 | Aggressive behavior | MP:0012312 | impaired avoidance learning behavior | impaired ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus |
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: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:0000455 | Broad nasal tip | MP:0009903 | abnormal medial nasal prominence morphology | any structural anomaly of the central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the form |
HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
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:0100716 | Self-injurious behavior | MP:0009848 | increased horizontal stereotypic behavior | increase in the frequency of repetitive rearings (greater than one per second) |
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: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 |
Mapped by homologous gene(Total Items:24) | ||||
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HP ID | HP Name | MP ID | MP Name | Annotation |
HP:0010743 | Short metatarsal | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
HP:0001682 | Subaortic stenosis | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
HP:0001250 | Seizures | 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:0000964 | Eczema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
HP:0010049 | Short metacarpal | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
HP:0000283 | Broad face | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
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: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:0000718 | Aggressive behavior | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
HP:0001265 | Hyporeflexia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
HP:0000248 | Brachycephaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
HP:0000752 | Hyperactivity | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
HP:0100716 | Self-injurious behavior | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
HP:0001263 | Global developmental delay | 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:0001513 | Obesity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
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: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:0007021 | Pain insensitivity | MP:0012725 | small sebaceous gland | decreased size of the sebum secreting glands of the hair shaft |
HP:0000311 | Round face | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
HP:0000272 | Malar flattening | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
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:0000455 | Broad nasal tip | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
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 | 1973 |
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Disease | 2q37 deletion syndrome |
Case | (Waiting for update.) |