skeletal dysplasia
SaudiVarKB evidence summary derived from retained literature mentions.
49Phenotype mentions
49Publications
38Associated gene records
21Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| DYM | HGNC:21317 | 5 | 5 |
| FGFR3 | HGNC:3690 | 4 | 4 |
| LIFR | HGNC:6597 | 2 | 2 |
| FLNA | HGNC:3754 | 2 | 2 |
| EIF2AK3 | HGNC:3255 | 2 | 2 |
| PEX7 | HGNC:8860 | 2 | 2 |
| BLOC1S1 | HGNC:4200 | 1 | 1 |
| SUCO | HGNC:1240 | 1 | 1 |
| CTSK | HGNC:2536 | 1 | 1 |
| PCNT | HGNC:16068 | 1 | 1 |
| MGP | HGNC:7060 | 1 | 1 |
| GNPAT | HGNC:4416 | 1 | 1 |
| PKDCC | HGNC:25123 | 1 | 1 |
| FAR1 | HGNC:26222 | 1 | 1 |
| AGPS | HGNC:327 | 1 | 1 |
| FAM149B1 | HGNC:29162 | 1 | 1 |
| IPO8 | HGNC:9853 | 1 | 1 |
| PEX5 | HGNC:9719 | 1 | 1 |
| MBP | HGNC:6925 | 1 | 1 |
| IL6ST | HGNC:6021 | 1 | 1 |
| SLC10A7 | HGNC:23088 | 1 | 1 |
| RSPRY1 | HGNC:29420 | 1 | 1 |
| CEP120 | HGNC:26690 | 1 | 1 |
| CSPP1 | HGNC:26193 | 1 | 1 |
| ARL13B | HGNC:25419 | 1 | 1 |
| ALG9 | HGNC:15672 | 1 | 1 |
| HAPLN1 | HGNC:2380 | 1 | 1 |
| PLK1 | HGNC:9077 | 1 | 1 |
| ZNF699 | HGNC:24750 | 1 | 1 |
| MBTPS1 | HGNC:15456 | 1 | 1 |
| DYNC2H1 | HGNC:2962 | 1 | 1 |
| INPPL1 | HGNC:6080 | 1 | 1 |
| MMP15 | HGNC:7161 | 1 | 1 |
| RAP1GDS1 | HGNC:9859 | 1 | 1 |
| WNT3A | HGNC:15983 | 1 | 1 |
| RIN1 | HGNC:18749 | 1 | 1 |
| DIP2C | HGNC:29150 | 1 | 1 |
| PAN2 | HGNC:20074 | 1 | 1 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| c.244-29A>G | c.244-29A>G | 1 | 1 |
| c.2257dup | c.2257dup | 1 | 1 |
| C19F | C19F | 1 | 1 |
| c.1205T>A | c.1205T>A | 1 | 1 |
| p.Leu402Ter | p.Leu402Ter | 1 | 1 |
| c.354_357delinsCACTC | c.354_357delinsCACTC | 1 | 1 |
| p.Leu20* | p.Leu20* | 1 | 1 |
| p.S991N | p.S991N | 1 | 1 |
| p.I650T | p.I650T | 1 | 1 |
| p.Ala199Pro | p.Ala199Pro | 1 | 1 |
| IVS15+3G>T | IVS15+3G>T | 1 | 1 |
| 3G>T | 3G>T | 1 | 1 |
| c.1138G>A | c.1138G>A | 1 | 1 |
| p.Gly380Arg | p.Gly380Arg | 1 | 1 |
| c.9041G>T | c.9041G>T | 1 | 1 |
| p.Arg3014Ile | p.Arg3014Ile | 1 | 1 |
| c.95_96insT | c.95_96insT | 1 | 1 |
| p.W33Lfs | p.W33Lfs | 1 | 1 |
| c.3153dupC | c.3153dupC | 1 | 1 |
| c.1075G>A | c.1075G>A | 1 | 1 |
| p.E359K | p.E359K | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Population record | — | 6 | 6 |
| Saudi Arabia | — | 5 | 5 |
| Saudi Arabia | — | 4 | 4 |
| Population record | Cohort 0 | 1 | 1 |
| Population record | Cohort 19 | 1 | 1 |
| Population record | Cohort 16 | 1 | 1 |
| Population record | Cohort 6 | 1 | 1 |
| Saudi Arabia | Cohort 8 | 1 | 1 |
| Population record | Cohort 27 | 1 | 1 |
| Saudi Arabia | Cohort 23 | 1 | 1 |
| Population record | Cohort 721 | 1 | 1 |
| Population record | Cohort 99 | 1 | 1 |
| Saudi Arabia | Cohort 40 | 1 | 1 |
| Saudi Arabia · Riyadh | Cohort 484 | 1 | 1 |
| Population record | Cohort 411 | 1 | 1 |
Supporting publications
49 records- 2026Progressive cervicothoracic meningocele with neurovascular compression and spinal deformity in neurofibromatosis type 1: a decade-long radiological and clinical evolution with operative repair. Illustrative case.Journal of neurosurgery. Case lessons1 mentions
- 2026Efficacy and safety of vosoritide in children with achondroplasia: a systematic review and meta-analysis.European journal of pediatrics1 mentions
- 2026Biallelic Variant in HAPLN1 is Associated With Skeletal Dysplasia With or Without Congenital Heart Disease.American journal of medical genetics. Part A1 mentions
- 2025Stüve-Wiedemann syndrome with a novel variant in the LIFR gene: A case report.Medicine1 mentions
- 2025Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?Orphanet journal of rare diseases1 mentions
- 2025Dyggve-Melchior-Clausen Syndrome With Celiac Disease: A Rare Entity.Cureus1 mentions
- 2025Pycnodysostosis: a case series of eight Saudi patients with cathepsin K gene mutation and a literature review.Frontiers in endocrinology1 mentions
- 2025Biochemical markers for metabolic bone disease in preterm infants: insights from a structured Bone Health Programme in the Middle East.BMJ paediatrics open1 mentions
- 2025A homozygous variant in FGFR3 causing lethal skeletal dysplasia.Sudanese journal of paediatrics1 mentions
- 2024Bilateral cochlear implants in a case of spondyloenchondrodysplasia with sensorineural hearing loss: Case report.International journal of surgery case reports1 mentions
- 2024Whole-Exome Sequencing Identifies DYNC2H1 Mutations as a Cause of Jeune Asphyxiating Thoracic Dystrophy Without Extra-Skeletal Organ Involvement.International medical case reports journal1 mentions
- 2023International Consensus Guideline on Small for Gestational Age: Etiology and Management From Infancy to Early Adulthood.Endocrine reviews1 mentions
- 2023Recommendations for dental management of diastrophic dysplasia: a rare case report.European review for medical and pharmacological sciences1 mentions
- 2023A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family.Genes1 mentions
- 2023The prevalence and phenotypic range associated with biallelic PKDCC variants.Clinical genetics1 mentions
- 2023Craniofacial and Dental Manifestations in Pediatric Patients with Achondroplasia: A Case Report and Clinical View.International journal of clinical pediatric dentistry1 mentions
- 2023Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.Nature communications1 mentions
- 2022Stüve-Wiedemann syndrome with a novel mutation in a Saudi infant.International journal of pediatrics & adolescent medicine1 mentions
- 2022Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations.Orphanet journal of rare diseases1 mentions
- 2022A Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity-Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1.Frontiers in cell and developmental biology1 mentions
- 2022Identification of a New Variant of the MBTPS1 Gene of the Kondo-Fu Type of Spondyloepiphyseal Dysplasia (SEDKF) in a Saudi Patient.Case reports in pediatrics1 mentions
- 2021Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.Journal of inherited metabolic disease1 mentions
- 2021Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions
- 2021Prenatal-onset INPPL1-related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality.Clinical case reports1 mentions
- 2021The first European consensus on principles of management for achondroplasia.Orphanet journal of rare diseases1 mentions
- 2021Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family.Genes1 mentions
- 2020Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.The Journal of experimental medicine1 mentions
- 2020A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients.Frontiers in pediatrics1 mentions
- 2020A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.Molecular biology reports1 mentions
- 2019Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the PCNT gene.BMJ case reports1 mentions
- 2018Expanding the phenome and variome of skeletal dysplasia.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions
- 2018Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.Human molecular genetics1 mentions
- 2016Further Delineation of the ALG9-CDG Phenotype.JIMD reports1 mentions
- 2016Lung disease associated with filamin A gene mutation: a case report.Journal of medical case reports1 mentions
- 2016Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.Journal of human genetics1 mentions
- 2015Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family.Cardiology in the young1 mentions
- 2015A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.Human molecular genetics1 mentions
- 2015Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort.Hormone research in paediatrics1 mentions
- 2015Genetics of human isolated hereditary nail disorders.The British journal of dermatology1 mentions
- 2015Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.American journal of human genetics1 mentions
- 2014Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.American journal of human genetics1 mentions
- 2014Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?Case reports in endocrinology1 mentions
- 2013Frequency and spectrum of Wolcott-Rallison syndrome in Saudi Arabia: a systematic review.The Libyan journal of medicine1 mentions
- 2011Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.European journal of pediatrics1 mentions
- 2011Frank-Ter Haar Syndrome.Journal of the College of Physicians and Surgeons--Pakistan : JCPSP1 mentions
- 2009The Erlenmeyer flask bone deformity in the skeletal dysplasias.American journal of medical genetics. Part A1 mentions
- 2005Disorders of androgen synthesis--from cholesterol to dehydroepiandrosterone.Medical principles and practice : international journal of the Kuwait University, Health Science Centre1 mentions
- 1999Cerebral fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography (FDG PET), MRI, and clinical observations in a patient with infantile G(M1) gangliosidosis.Brain & development1 mentions
- 1976Camptodactyly, with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel Hashomer camptodactyly syndrome.Journal of medical genetics1 mentions