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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   2q37 deletion syndrome
  

Disease ID 1973
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)
23178  |  PASK  |  CTD_human
9759  |  HDAC4  |  CTD_human;ORPHANET;UNIPROT
9855  |  FARP2  |  CTD_human
3069  |  HDLBP  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1973
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)
HP:0100543  |  Cognitive deficits  |  1
HP:0001631  |  Atria septal defect  |  1
Disease ID 1973
Disease 2q37 deletion syndrome
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Manually Genotypes:1)
Gene Mutation DOI Article Title
2q37-doi:10.1038/gim.2015.51Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability
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:10)
HP ID HP Name MP ID MP Name Annotation
HP:0000311Round faceMP:0012546triangular facea 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:0000718Aggressive behaviorMP:0012312impaired avoidance learning behaviorimpaired 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:0009803Short phalanx of fingerMP:0012069abnormal horizontal basal cell of olfactory epithelium morphologyany 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:0000407Sensorineural hearing impairmentMP:0006330syndromic hearing impairmenthearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms
HP:0000455Broad nasal tipMP:0009903abnormal medial nasal prominence morphologyany 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:0001263Global developmental delayMP:0002084abnormal developmental patterningabnormal systematic arrangement of the developing body along an axis
HP:0010743Short metatarsalMP:0004635short metatarsal bonesreduced 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:0100716Self-injurious behaviorMP:0009848increased horizontal stereotypic behaviorincrease in the frequency of repetitive rearings (greater than one per second)
HP:0010049Short metacarpalMP:0004634short metacarpal bonesreduced length of the five bones of the forepaws that articulate proximally with the carpal bones and distally with the phalanges
HP:0011800Hypoplasia of midfaceMP:0020010decreased bone mineral density of femurreduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
Mapped by homologous gene(Total Items:24)
HP ID HP Name MP ID MP Name Annotation
HP:0010743Short metatarsalMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0011675ArrhythmiaMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0001682Subaortic stenosisMP:0013504increased embryonic tissue cell apoptosisincrease in the timing or the number of cells in embryonic tissue undergoing programmed cell death
HP:0001250SeizuresMP:3000003abnormal Ebner's gland morphologyany 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:0000964EczemaMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0010049Short metacarpalMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000283Broad faceMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0004322Short statureMP:3000003abnormal Ebner's gland morphologyany 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:0000407Sensorineural hearing impairmentMP:3000003abnormal Ebner's gland morphologyany 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:0000718Aggressive behaviorMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001265HyporeflexiaMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000248BrachycephalyMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000752HyperactivityMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0100716Self-injurious behaviorMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0001263Global developmental delayMP:3000003abnormal Ebner's gland morphologyany 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:0001513ObesityMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0001249Intellectual disabilityMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001831Short toeMP:0020039increased bone ossificationincrease 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:0007021Pain insensitivityMP:0012725small sebaceous glanddecreased size of the sebum secreting glands of the hair shaft
HP:0000311Round faceMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000272Malar flatteningMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0011800Hypoplasia of midfaceMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000455Broad nasal tipMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0009803Short phalanx of fingerMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
Disease ID 1973
Disease 2q37 deletion syndrome
Case(Waiting for update.)