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MCID: SHR029
MIFTS: 51
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Short Syndrome
Categories:
Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Endocrine diseases, Fetal diseases, Oral diseases, Cardiovascular diseases
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MalaCards integrated aliases for Short Syndrome:
Characteristics:Orphanet epidemiological data:59
short syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay de novo mutation identified in some patients HPO:32GeneReviews:24
Penetrance
The penetrance of short syndrome appears complete in all individuals undergoing molecular genetic testing to date: all simplex cases (i.e., a single occurrence in a family) with parents available for testing have had a de novo
pik3r1 pathogenic variant, and all familial cases have inherited the pathogenic variant from an affected parent...
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Skin diseases Endocrine diseases Oral diseases Cardiovascular diseases
ICD10:
34
Orphanet: 59
Rare eye diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
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NIH Rare Diseases
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53
SHORT syndromeis a condition characterized by multiple abnormalities that affect several parts of the body. The term SHORT is an acronym with each letter representing a common feature in affected individuals: (S) short stature; (H) hyperextensibility of joints and/or hernia (inguinal); (O) ocular depression (deep-set eyes); (R) Rieger anomaly (defective development of the anterior chamber of the eye that can lead to glaucoma); and (T) teething delay. Other features commonly present include a triangular face, small chin with a dimple, loss of fat under the skin (lipodystrophy), abnormal position of the ears, hearing loss and delayed speech. It is caused by mutations in the PIK3R1 gene. Inheritance is autosomal dominant. Treatment focuses on the specific symptoms present in each individual.
MalaCards based summary : Short Syndrome, also known as short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay, is related to short-rib thoracic dysplasia 3 with or without polydactyly and short-rib thoracic dysplasia 6 with or without polydactyly. An important gene associated with Short Syndrome is PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Activation of cAMP-Dependent PKA. Affiliated tissues include eye, skin and bone, and related phenotypes are malar flattening and hypertelorism Genetics Home Reference : 25 Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay, commonly known by the acronym SHORT syndrome, is a rare disorder that affects many parts of the body. OMIM : 57 'Short,' the mnemonic designation for this syndrome, is an acronym: S = stature; H = hyperextensibility of joints or hernia (inguinal) or both; O = ocular depression; R = Rieger anomaly; T = teething delay. The name was given by Gorlin (1975), who described the syndrome in 2 brothers. Dyment et al. (2013) noted that the features listed in the acronym for SHORT syndrome do not capture the full range of the clinical phenotype, which can include a recognizable facial gestalt consisting of triangular facies, lack of facial fat, and hypoplastic nasal alae with overhanging columella, as well as near-universal partial lipodystrophy, insulin resistance, nephrocalcinosis, and hearing deficits. Notably, both developmental milestones and cognition are normal for individuals with SHORT syndrome. (269880) UniProtKB/Swiss-Prot : 75 SHORT syndrome: A rare, multisystem disease characterized by short stature, anomalies of the anterior chamber of the eye, characteristic facial features such as triangular facies, lack of facial fat, and hypoplastic nasal alae with overhanging columella, partial lipodystrophy, hernias, hyperextensibility, and delayed dentition. The clinical phenotype can include insulin resistance, nephrocalcinosis, and hearing deficits. Developmental milestones and cognition are normal. Wikipedia : 76 SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in... more...
GeneReviews:
NBK201365
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:269880Human phenotypes related to Short Syndrome:59 32 (show top 50) (show all 68)
GenomeRNAi Phenotypes related to Short Syndrome according to GeneCards Suite gene sharing:26 (show all 13)
MGI Mouse Phenotypes related to Short Syndrome:46
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Interventional clinical trials:
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MalaCards organs/tissues related to Short Syndrome:41
Eye,
Skin,
Bone,
Testes
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Articles related to Short Syndrome:(show all 26)
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Genes related to Short Syndrome (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Short Syndrome:75
ClinVar genetic disease variations for Short Syndrome:6
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Search
GEO
for disease gene expression data for Short Syndrome.
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Pathways related to Short Syndrome according to KEGG:37
Pathways related to Short Syndrome according to GeneCards Suite gene sharing:(show all 34)
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Biological processes related to Short Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Short Syndrome according to GeneCards Suite gene sharing:
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