arthrogryposis
SaudiVarKB evidence summary derived from retained literature mentions.
28Phenotype mentions
28Publications
31Associated gene records
5Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| ECEL1 | HGNC:3147 | 3 | 3 |
| BORCS5 | HGNC:17950 | 2 | 2 |
| ARC | HGNC:648 | 1 | 1 |
| SYNE1 | HGNC:17089 | 1 | 1 |
| NEB | HGNC:7720 | 1 | 1 |
| TOR1A | HGNC:3098 | 1 | 1 |
| LGI1 | HGNC:6572 | 1 | 1 |
| ATN1 | HGNC:3033 | 1 | 1 |
| MYO18B | HGNC:18150 | 1 | 1 |
| SMPD4 | HGNC:32949 | 1 | 1 |
| VPS36 | HGNC:20312 | 1 | 1 |
| SALL4 | HGNC:15924 | 1 | 1 |
| CHN1 | HGNC:1943 | 1 | 1 |
| HOXA1 | HGNC:5099 | 1 | 1 |
| TUBB3 | HGNC:20772 | 1 | 1 |
| KIF21A | HGNC:19349 | 1 | 1 |
| COL25A1 | HGNC:18603 | 1 | 1 |
| PHOX2A | HGNC:691 | 1 | 1 |
| ROBO3 | HGNC:13433 | 1 | 1 |
| PIEZO2 | HGNC:26270 | 1 | 1 |
| ISLR2 | HGNC:29286 | 1 | 1 |
| ZBTB42 | HGNC:32550 | 1 | 1 |
| FILIP1 | HGNC:21015 | 1 | 1 |
| FAM177A1 | HGNC:19829 | 1 | 1 |
| TFCP2L1 | HGNC:17925 | 1 | 1 |
| LGI4 | HGNC:18712 | 1 | 1 |
| LGI2 | HGNC:18710 | 1 | 1 |
| LGI3 | HGNC:18711 | 1 | 1 |
| SCYL2 | HGNC:19286 | 1 | 1 |
| VPS33B | HGNC:12712 | 1 | 1 |
| RAB11A | HGNC:9760 | 1 | 1 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| c.6905C>A | c.6905C>A | 1 | 1 |
| p.Ser2302* | p.Ser2302* | 1 | 1 |
| c.6660_6670del | c.6660_6670del | 1 | 1 |
| c.158C>A | c.158C>A | 1 | 1 |
| p.Pro53Leu | p.Pro53Leu | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 6 | 6 |
| Population record | — | 2 | 2 |
| Population record | Cohort 16 | 2 | 2 |
| Population record | Cohort 12 | 2 | 2 |
| Saudi Arabia | — | 1 | 1 |
| Population record | Cohort 20 | 1 | 1 |
| Population record | Cohort 13 | 1 | 1 |
| Population record | Cohort 15 | 1 | 1 |
| Saudi Arabia | Cohort 1 | 1 | 1 |
| Saudi Arabia | Cohort 3 | 1 | 1 |
| Population record | Cohort 14 | 1 | 1 |
| Saudi Arabia | Cohort 39 | 1 | 1 |
Supporting publications
28 records- 2026Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction.The Journal of clinical investigation1 mentions
- 2026Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.European journal of human genetics : EJHG1 mentions
- 2025Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes.European journal of human genetics : EJHG1 mentions
- 2025Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.medRxiv : the preprint server for health sciences1 mentions
- 2024A Case of a Newborn With Nemaline Myopathy From Al-Qunfudhah City, Saudi Arabia.Cureus1 mentions
- 2024Why Craniofacial Surgeons/Researchers Need to be Aware of Native American Myopathy?Neuropediatrics1 mentions
- 2023The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.Brain : a journal of neurology1 mentions
- 2023A rare case of arthrogryposis multiplex congenita in a 2-year-old boy case report.SAGE open medical case reports1 mentions
- 2022First report of SYNE1 arthrogryposis multiplex congenita from Saudi Arabia with a novel mutation: a case report.Italian journal of pediatrics1 mentions
- 2022A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.American journal of human genetics1 mentions
- 2021Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism.American journal of medical genetics. Part A1 mentions
- 2021Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome.American journal of medical genetics. Part A1 mentions
- 2021CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.Clinical genetics1 mentions
- 2020Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.Human genetics1 mentions
- 2019A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension.Human genetics1 mentions
- 2019Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.American journal of human genetics1 mentions
- 2019Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D).Frontiers in pediatrics1 mentions
- 2018KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.American journal of human genetics1 mentions
- 2017Vps33b is crucial for structural and functional hepatocyte polarity.Journal of hepatology1 mentions
- 2017A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome.Case reports in dermatology1 mentions
- 2014Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D.Clinical genetics1 mentions
- 2014ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).Human molecular genetics1 mentions
- 2014The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus1 mentions
- 2012ARC syndrome with complex renal problems: nephrocalcinosis, proximal and hyperkalemic distal RTA and nephrogenic diabetes insipidus.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2011Arthrogryposis, perthes disease, and upward gaze palsy: a novel autosomal recessive syndromic form of arthrogryposis.American journal of medical genetics. Part A1 mentions
- 2007Muscle phosphofructokinase deficiency with neonatal seizures and nonprogressive course.Journal of child neurology1 mentions
- 2005Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review.Clinical dysmorphology1 mentions
- 2000Arthrogryposis, renal dysfunction and cholestasis syndrome.Saudi medical journal1 mentions