SHORT syndrome

A rare disorder characterized by multiple congenital anomalies. The name is a mneumonic for the common features observed in SHORT syndrome that include; short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt.



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Narrow down the case reports



Total: 20 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(63.5%)		 10457859
 Case report on SHORT syndrome.
Joo SH, Raygada M, Gibney S, Farzaneh I, Rennert OM.
Clin Dysmorphol. 1999;8(3):219-21.
Triangular face Micrognathia Telecanthus
Body Height Developmental Disabilities Eye Abnormalities Females Hernia, Inguinal Homo sapiens Infant Joints Syndrome
2
(48.8%)		 21340693
(3178759)
 BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.
Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, Broeckel U, Semina EV.
Hum Genet. 2011;130(4):495-504.
Macrocephaly Postaxial polydactyly
BMP4
c|DUP|171|C| c|SUB|A|362|G;RS#:376960358 c|SUB|C|592|T;RS#:387906597 p|FS|E|58|R|17 p|SUB|H|121|R;RS#:376960358 p|SUB|R|198|X;RS#:387906597 rs376960358 rs387906597
Amino Acid Sequence Child Child, Preschool Chromosome Aberrations Eye Females Growth Disorders Homo sapiens Hypercalcemia Infant Male Metabolic Diseases Molecular Sequence Data Mutation Nephrocalcinosis Sequence Homology, Amino Acid
3
(35.3%)		 28934384
 SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation.
Alcantara D, Elmslie F, Tetreault M, Bareke E, Hartley T, , Majewski J, Boycott K, Innes AM, Dyment DA, O'Driscoll M.
Hum Mol Genet. 2017;26(19):3713-3721.
Triangular face Lipoatrophy
AKT1 CRTC2 MAPKAP1 MTOR PDK1 PIK3R1 PRKCE
rs1553363925
Adaptor Proteins, Signal Transducing Dwarfism Females Growth Disorders HEK293 Cells Homo sapiens Hypercalcemia Metabolic Diseases Mutation Nephrocalcinosis Phosphatidylinositol 3-Kinases Phosphorylation Protein Kinase C-epsilon Proto-Oncogene Proteins c-akt Signal Transduction
3
(35.3%)		 28472977
(5418728)
 SHORT syndrome in a two-year-old girl - case report.
Klatka M, Rysz I, Kozyra K, Polak A, Kolltaj W.
Ital J Pediatr. 2017;43(1):44.
Lipodystrophy Prominent forehead
PIK3R1
c|DUP|1956|T| p|SUB|K|653|*
Child, Preschool Developmental Disabilities Females Genetic Predisposition to Disease Growth Disorders Homo sapiens Hypercalcemia Metabolic Diseases Nephrocalcinosis Rare Diseases
3
(35.3%)		 23665600
 Short syndrome-an expanding phenotype.
Singh A, Arora R, Singh P, Kapoor S.
Indian Pediatr. 2013;50(4):414-6.
Deviated nasal septum Lipodystrophy
PITX2
Face Growth Disorders Homo sapiens Hypercalcemia Male Metabolic Diseases Nephrocalcinosis Phenotype
6
(31.0%)		 4050863
 Report of a case and further delineation of the SHORT syndrome.
Toriello HV, Wakefield S, Komar K, Higgins JV, Waterman DF.
Am J Med Genet. 1985;22(2):311-4.
Short stature Clinodactyly
Child Deafness Face Fingers Genes, Recessive Growth Disorders Homo sapiens Lipodystrophy Male Speech Disorders Syndrome
7
(17.5%)		 24886349
(4022398)
 Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.
Barcena C, Quesada V, De Sandre-Giovannoli A, Puente DA, Fernandez-Toral J, Sigaudy S, Baban A, Levy N, Velasco G, Lopez-Otin C.
BMC Med Genet. 2014;15:51.
Lipodystrophy
PIK3R1
c|DEL|1929_1933|TGGCA c|SUB|C|1945|T;RS#:397515453 p|SUB|D|643|D p|SUB|R|649|W;RS#:397515453
Amino Acid Substitution Child, Preschool Class Ia Phosphatidylinositol 3-Kinase DNA Mutational Analysis Exome Facies Growth Disorders High-Throughput Nucleotide Sequencing Homo sapiens Hypercalcemia Infant Male Metabolic Diseases Models, Molecular Mutation Nephrocalcinosis Phenotype Phosphatidylinositol 3-Kinases Protein Conformation
7
(17.5%)		 23980586
 PIK3R1 mutations in SHORT syndrome.
Schroeder C, Riess A, Bonin M, Bauer P, Riess O, Dobler-Neumann M, Wieser S, Moog U, Tzschach A.
Clin Genet. 2014;86(3):292-4.
Ectopic kidney Lipodystrophy
INS PIK3R1
c|SUB|C|1945|T;RS#:397515453 p|SUB|R|649|W;RS#:397515453 rs397515453
Class Ia Phosphatidylinositol 3-Kinase DNA Primers Females Genetic Predisposition to Disease Growth Disorders Heterozygote Homo sapiens Hypercalcemia Male Metabolic Diseases Missense Mutation Nephrocalcinosis Phosphatidylinositol 3-Kinases Polymerase Chain Reaction Sequence Analysis, DNA
7
(17.5%)		 15481036
 Is SHORT syndrome another phenotypic variation of PITX2?
Karadeniz NN, Kocak-Midillioglu I, Erdogan D, Bokesoy I.
Am J Med Genet A. 2004;130A(4):406-9.
Polycystic ovaries Lipodystrophy
INS PITX2
Adult Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 4 Eye Abnormalities Females Homeodomain Proteins Homo sapiens Infant Male Phenotype Polycystic Ovary Syndrome Syndrome
7
(17.5%)		 11135494
 SHORT syndrome: a case with high hyperopia and astigmatism.
Bonnel S, Dureau P, LeMerrer M, Dufier JL.
Ophthalmic Genet. 2000;21(4):235-8.
Astigmatism Lipoatrophy
rs397515453
Astigmatism Child Cornea Corneal Opacity Developmental Disabilities Eye Abnormalities Females Growth Disorders Homo sapiens Hyperopia Joint Instability Syndrome Tooth Diseases
        

Phenotype(s) retrieved from Orphanet

    Total: 37

HPO ID Term Frequency
HP:0000023 Inguinal hernia Very frequent (99-80%)
HP:0000407 Sensorineural hearing impairment Very frequent (99-80%)
HP:0000490 Deeply set eye Very frequent (99-80%)
HP:0003510 Severe short stature Very frequent (99-80%)
HP:0005692 Joint hyperflexibility Very frequent (99-80%)
HP:0007676 Hypoplasia of the iris Very frequent (99-80%)
HP:0000164 Abnormality of the dentition Frequent (79-30%)
HP:0000271 Abnormality of the face Frequent (79-30%)
HP:0000485 Megalocornea Frequent (79-30%)
HP:0000501 Glaucoma Frequent (79-30%)
HP:0000615 Abnormal pupil morphology Frequent (79-30%)
HP:0000682 Abnormality of dental enamel Frequent (79-30%)
HP:0000691 Microdontia Frequent (79-30%)
HP:0000819 Diabetes mellitus Frequent (79-30%)
HP:0000855 Insulin resistance Frequent (79-30%)
HP:0001006 Hypotrichosis Frequent (79-30%)
HP:0001596 Alopecia Frequent (79-30%)
HP:0001824 Weight loss Frequent (79-30%)
HP:0002167 Neurological speech impairment Frequent (79-30%)
HP:0004396 Poor appetite Frequent (79-30%)
HP:0007392 Excessive wrinkled skin Frequent (79-30%)
HP:0009125 Lipodystrophy Frequent (79-30%)
HP:0011800 Midface retrusion Frequent (79-30%)
HP:0000272 Malar flattening Occasional (29-5%)
HP:0000277 Abnormality of the mandible Occasional (29-5%)
HP:0000316 Hypertelorism Occasional (29-5%)
HP:0000325 Triangular face Occasional (29-5%)
HP:0000336 Prominent supraorbital ridges Occasional (29-5%)
HP:0000431 Wide nasal bridge Occasional (29-5%)
HP:0000506 Telecanthus Occasional (29-5%)
HP:0000593 Abnormal anterior chamber morphology Occasional (29-5%)
HP:0000627 Posterior embryotoxon Occasional (29-5%)
HP:0001156 Brachydactyly Occasional (29-5%)
HP:0004279 Short palm Occasional (29-5%)
HP:0007957 Corneal opacity Occasional (29-5%)
HP:0010668 Abnormality of the zygomatic bone Occasional (29-5%)
HP:0011220 Prominent forehead Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 20

HPO ID Term # of case reports
HP:0004322 Short stature 6
HP:0009125 Lipodystrophy 3
HP:0000855 Insulin resistance 2
HP:0100578 Lipoatrophy 2
HP:0100790 Hernia 2
HP:0000028 Cryptorchidism 1
HP:0000086 Ectopic kidney 1
HP:0000147 Polycystic ovaries 1
HP:0000256 Macrocephaly 1
HP:0000483 Astigmatism 1
HP:0000501 Glaucoma 1
HP:0000627 Posterior embryotoxon 1
HP:0000819 Diabetes mellitus 1
HP:0000831 Insulin-resistant diabetes mellitus 1
HP:0001510 Growth delay 1
HP:0002716 Lymphadenopathy 1
HP:0004411 Deviated nasal septum 1
HP:0011220 Prominent forehead 1
HP:0030084 Clinodactyly 1
HP:0100543 Cognitive impairment 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 5295