| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 19 (42.3%) |
2202217 |
Expanded spectrum of findings in Marden-Walker syndrome. Giacoia GP, Pineda R. Am J Med Genet. 1990;36(4):495-9. |
| Blepharophimosis Congenital contracture | ||
| Elbow Homo sapiens Infant, Newborn Infant, Small for Gestational Age Kidney Knee Larynx Lung Male Syndrome | ||
| 22 (39.8%) |
19769282 |
[Marden-Walker syndrome--a case report]. Dumic M, Rojnic-Putarek N, Skrablin-Kucic S, Matic T, Ille J, Radica A. Lijec Vjesn. 2009;131(7-8):203-6. |
| Blepharophimosis Umbilical hernia | ||
| Blepharophimosis Child, Preschool Contracture Craniofacial Abnormalities Females Homo sapiens Syndrome | ||
| 23 (34.6%) |
9727748 |
Marden-Walker syndrome versus isolated distal arthrogryposis: evidence that both conditions may be variable manifestations of the same mutated gene. Fryns JP, Willekens D, Van Schoubroeck D, Moerman P. Clin Genet. 1998;54(1):86-9. |
| Joint contracture of the hand | ||
| Arthrogryposis Face Females Fetal Death Fetus Growth Disorders Homo sapiens Infant, Newborn Male Mutation Psychomotor Disorders Syndrome | ||
| 24 (30.8%) |
23894067 |
A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome. Carrascosa-Romero MC, Suela J, Pardal-Fernandez JM, Bermejo-Sanchez E, Vidal-Company A, MacDonald A, Tebar-Gil R, Martinez-Fernandez ML, Martinez-Frias ML. Am J Med Genet A. 2013;161A(9):2281-90. |
| Blepharophimosis | ||
| RUNX1 | ||
| Arachnodactyly Blepharophimosis Brain Child Chromosome Banding Chromosome Deletion Chromosome Mapping Chromosomes, Human, Pair 21 Connective Tissue Diseases Contracture Facies Females Homo sapiens Phenotype | ||
| 24 (30.8%) |
4009704 |
The Marden-Walker syndrome: a case report and review of the literature. Jancar J, Mlele TJ. J Ment Defic Res. 1985;29 ( Pt 1):63-70. |
| Blepharophimosis | ||
| Adult Bone Diseases, Developmental Contracture Females Homo sapiens Intellectual Disability Syndrome | ||
| 24 (30.8%) |
3047662 |
[Marden-Walker syndrome. New case and discussion about its role in arthrogryposes]. Manouvrier-Hanu S, de la Chapelle AC, Farriaux JP. Pediatrie. 1988;43(4):313-7. |
| Blepharophimosis | ||
| Arthrogryposis Females Homo sapiens Infant, Newborn | ||
| 27 (28.5%) |
7690581 |
Marden-Walker syndrome in two siblings. Chia FL, Chia F. J Paediatr Child Health. 1993;29(4):312-4. |
| Failure to thrive Talipes equinovarus Camptodactyly | ||
| Child, Preschool Developmental Disabilities Face Females Homo sapiens Infant Male Syndrome | ||
| 28 (23.3%) |
27974811 |
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. Haliloglu G, Becker K, Temucin C, Talim B, Kucuksahin N, Pergande M, Motameny S, Nurnberg P, Aydingoz U, Topaloglu H, Cirak S. J Hum Genet. 2017;62(4):497-501. |
| Distal muscle weakness Scoliosis | ||
| MYH14 PIEZO2 | ||
| c|SUB|C|1384|T p|SUB|R|462|* | ||
| Arthrogryposis Homo sapiens Ion Channel Male Muscle Weakness Phenotype Somatosensory Disorders Somatosensory Evoked Potentials | ||
| 28 (23.3%) |
27843126 |
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis. Delle Vedove A, Storbeck M, Heller R, Holker I, Hebbar M, Shukla A, Magnusson O, Cirak S, Girisha KM, O'Driscoll M, Loeys B, Wirth B. Am J Hum Genet. 2016;99(5):1206-1216. |
| Ptosis Scoliosis | ||
| rs1057519425 rs1057519426 rs1057519626 | ||
| Adult Alleles Arachnodactyly Arthrogryposis Blepharophimosis Child Child, Preschool Connective Tissue Diseases Contracture Females Genome-Wide Association Study Homo sapiens Homozygote India Ion Channel Libya Male Mechanotransduction, Cellular Missense Mutation Muscular Atrophy Ophthalmoplegia Pakistan Proprioception Respiratory Distress Syndrome, Newborn Single Nucleotide Polymorphism Young Adult | ||
| 30 (21.2%) |
30938034 |
Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family. Zapata-Aldana E, Al-Mobarak SB, Karp N, Campbell C. Am J Med Genet A. 2019;179(6):1034-1041. |
| Deeply set eye Congenital contracture | ||
| PIEZO2 | ||
| c|SUB|A|8068|C p|SUB|S|2690|R | ||
| Adult Alleles Arthrogryposis Canada Child, Preschool Facies Females Genetic Association Studies Genetic Predisposition to Disease Genotype Homo sapiens Infant, Newborn Ion Channel Male Mutation Phenotype |
Total: 61
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000160 | Narrow mouth | Very frequent (99-80%) |
| HP:0000175 | Cleft palate | Very frequent (99-80%) |
| HP:0000176 | Submucous cleft hard palate | Very frequent (99-80%) |
| HP:0000193 | Bifid uvula | Very frequent (99-80%) |
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000278 | Retrognathia | Very frequent (99-80%) |
| HP:0000298 | Mask-like facies | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000358 | Posteriorly rotated ears | Very frequent (99-80%) |
| HP:0000369 | Low-set ears | Very frequent (99-80%) |
| HP:0000508 | Ptosis | Very frequent (99-80%) |
| HP:0000581 | Blepharophimosis | Very frequent (99-80%) |
| HP:0001166 | Arachnodactyly | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001252 | Muscular hypotonia | Very frequent (99-80%) |
| HP:0001263 | Global developmental delay | Very frequent (99-80%) |
| HP:0001328 | Specific learning disability | Very frequent (99-80%) |
| HP:0001387 | Joint stiffness | Very frequent (99-80%) |
| HP:0001460 | Aplasia/Hypoplasia involving the skeletal musculature | Very frequent (99-80%) |
| HP:0001508 | Failure to thrive | Very frequent (99-80%) |
| HP:0001510 | Growth delay | Very frequent (99-80%) |
| HP:0002804 | Arthrogryposis multiplex congenita | Very frequent (99-80%) |
| HP:0002974 | Radioulnar synostosis | Very frequent (99-80%) |
| HP:0003202 | Skeletal muscle atrophy | Very frequent (99-80%) |
| HP:0003510 | Severe short stature | Very frequent (99-80%) |
| HP:0003560 | Muscular dystrophy | Very frequent (99-80%) |
| HP:0011968 | Feeding difficulties | Very frequent (99-80%) |
| HP:0012745 | Short palpebral fissure | Very frequent (99-80%) |
| HP:0000767 | Pectus excavatum | Frequent (79-30%) |
| HP:0000768 | Pectus carinatum | Frequent (79-30%) |
| HP:0001511 | Intrauterine growth retardation | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002808 | Kyphosis | Frequent (79-30%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Frequent (79-30%) |
| HP:0100490 | Camptodactyly of finger | Frequent (79-30%) |
| HP:0000003 | Multicystic kidney dysplasia | Occasional (29-5%) |
| HP:0000036 | Abnormality of the penis | Occasional (29-5%) |
| HP:0000039 | Epispadias | Occasional (29-5%) |
| HP:0000047 | Hypospadias | Occasional (29-5%) |
| HP:0000072 | Hydroureter | Occasional (29-5%) |
| HP:0000077 | Abnormality of the kidney | Occasional (29-5%) |
| HP:0000079 | Abnormality of the urinary system | Occasional (29-5%) |
| HP:0000104 | Renal agenesis | Occasional (29-5%) |
| HP:0000110 | Renal dysplasia | Occasional (29-5%) |
| HP:0000126 | Hydronephrosis | Occasional (29-5%) |
| HP:0000238 | Hydrocephalus | Occasional (29-5%) |
| HP:0001274 | Agenesis of corpus callosum | Occasional (29-5%) |
| HP:0001321 | Cerebellar hypoplasia | Occasional (29-5%) |
| HP:0001331 | Absent septum pellucidum | Occasional (29-5%) |
| HP:0001629 | Ventricular septal defect | Occasional (29-5%) |
| HP:0001651 | Dextrocardia | Occasional (29-5%) |
| HP:0001696 | Situs inversus totalis | Occasional (29-5%) |
| HP:0001840 | Metatarsus adductus | Occasional (29-5%) |
| HP:0001883 | Talipes | Occasional (29-5%) |
| HP:0002021 | Pyloric stenosis | Occasional (29-5%) |
| HP:0002334 | Abnormality of the cerebellar vermis | Occasional (29-5%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Occasional (29-5%) |
| HP:0004307 | Abnormal anatomic location of the heart | Occasional (29-5%) |
| HP:0008678 | Renal hypoplasia/aplasia | Occasional (29-5%) |
| HP:0010935 | Abnormality of the upper urinary tract | Occasional (29-5%) |
| HP:0030680 | Abnormality of cardiovascular system morphology | Occasional (29-5%) |
Total: 19
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000581 | Blepharophimosis | 8 |
| HP:0001166 | Arachnodactyly | 4 |
| HP:0025356 | Psychomotor retardation | 4 |
| HP:0000347 | Micrognathia | 3 |
| HP:0000369 | Low-set ears | 3 |
| HP:0001508 | Failure to thrive | 3 |
| HP:0002751 | Kyphoscoliosis | 3 |
| HP:0000602 | Ophthalmoplegia | 2 |
| HP:0002803 | Congenital contracture | 2 |
| HP:0000488 | Retinopathy | 1 |
| HP:0000508 | Ptosis | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001252 | Muscular hypotonia | 1 |
| HP:0002021 | Pyloric stenosis | 1 |
| HP:0002375 | Hypokinesia | 1 |
| HP:0002486 | Myotonia | 1 |
| HP:0002580 | Volvulus | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002828 | Multiple joint contractures | 1 |