| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (48.2%) |
27030147 |
Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency. Jamsheer A, Olech EM, Kozlowski K, Niedziela M, Sowinska-Seidler A, Obara-Moszynska M, Latos-Bielenska A, Karczewski M, Zemojtel T. J Hum Genet. 2016;61(7):577-83. |
| Decreased response to growth hormone stimuation test Short metacarpal | ||
| GH1 IGF1 IGFBP3 XYLT1 | ||
| c|SUB|C|1651|T;RS#:776422861 c|SUB|C|595|T p|SUB|Q|199|* p|SUB|R|551|C;RS#:776422861 rs769391314 | ||
| Adult Craniofacial Abnormalities DNA Mutational Analysis Dwarfism Exome Females Haplotypes Heterotopic Ossification Heterozygote High-Throughput Nucleotide Sequencing Homo sapiens Joint Instability Male Mutation Phenotype Polydactyly Pregnancy Short Tandem Repeat Skeleton | ||
| 1 (48.2%) |
25486376 |
A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type. Singh A, Kim OH, Iida A, Park WY, Ikegawa S, Kapoor S. Eur J Med Genet. 2015;58(2):105-10. |
| Severe short stature Short metacarpal | ||
| CANT1 | ||
| c|SUB|C|467|T c|SUB|G|676|A;RS#:377546036 p|SUB|S|156|F p|SUB|V|226|M;RS#:377546036 | ||
| Child Craniofacial Abnormalities Dwarfism Females Heterotopic Ossification Homo sapiens India Joint Instability Male Mutation Nucleotidases Polydactyly | ||
| 1 (48.2%) |
20358597 |
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases. Kim OH, Nishimura G, Song HR, Matsui Y, Sakazume S, Yamada M, Narumi Y, Alanay Y, Unger S, Cho TJ, Park SS, Ikegawa S, Meinecke P, Superti-Furga A. Am J Med Genet A. 2010;152A(4):875-85. |
| Arthritis Short metacarpal | ||
| SLC26A2 | ||
| rs377546036 | ||
| Adult Age Determination by Skeleton Bone Diseases, Developmental Child Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Females Homo sapiens Knee Male Pelvis Sibling Young Adult | ||
| 4 (39.3%) |
3761078 |
A new skeletal dysplasia: clinical, radiologic, and pathologic findings. Burton BK, Sumner T, Langer LO Jr, Rimoin DL, Adomian GE, Lachman RS, Nicastro JF, Kelly DL, Weaver RG. J Pediatr. 1986;109(4):642-8. |
| Pursed lips Skeletal dysplasia | ||
| Bone Diseases, Developmental Bone and Bones Cartilage Ectopia Lentis Females Genes, Recessive Homo sapiens Infant Male Microstomia Syndrome | ||
| 5 (37.5%) |
1959544 |
Desbuquois syndrome. Le Merrer M, Young ID, Stanescu V, Maroteaux P. Eur J Pediatr. 1991;150(11):793-6. |
| Joint laxity Supernumerary metacarpal bones | ||
| Bone and Bones Child Dwarfism Females Hand Hip Joint Homo sapiens Infant Joint Instability Male Phenotype Syndrome | ||
| 6 (36.1%) |
19144099 (2648951) |
Advanced ossification of the carpal bones, and monkey wrench appearance of the femora, features suggestive of a propable mild form of desbeqious dysplasia: a case report and review of the literature. Al Kaissi A, Radler C, Klaushofer K, Grill F. Cases J. 2009;2(1):45. |
| Hitchhiker thumb Genu valgum | ||
| 7 (35.4%) |
15211652 |
Clinical and genetic heterogeneity in Desbuquois dysplasia. Faivre L, Le Merrer M, Zerres K, Ben Hariz M, Scheffer D, Young ID, Maroteaux P, Munnich A, Cormier-Daire V. Am J Med Genet A. 2004;128A(1):29-32. |
| Joint laxity Phalangeal dislocation | ||
| Body Height Child Chromosome Mapping Chromosomes, Human, Pair 17 Face Females Femur Genetic Heterogeneity Genetic Markers Homo sapiens Inbreeding Infant, Newborn Joint Instability Male Osteochondrodysplasias Short Tandem Repeat | ||
| 8 (32.7%) |
26317189 |
[Two siblings with bilateral congenital knee dislocations: case report]. Kubinec V, Polakoviova L, Kantarska D. Acta Chir Orthop Traumatol Cech. 2015;82(2):161-6. |
| Skeletal dysplasia Genu valgum | ||
| Child Craniofacial Abnormalities Dwarfism Females Heterotopic Ossification Homo sapiens Infant Joint Instability Knee Dislocation Male Polydactyly Sibling | ||
| 9 (30.8%) |
19918492 (2769382) |
Synophyrs, curly eyelashes and Ptyrigium colli in a girl with Desbuquois dysplasia: a case report and review of the literature. Al Kaissi A, Klaushofer K, Grill F. Cases J. 2009;2:7873. |
| Confusion Curly eyelashes | ||
| 10 (23.3%) |
19853239 |
Identification of CANT1 mutations in Desbuquois dysplasia. Huber C, Oules B, Bertoli M, Chami M, Fradin M, Alanay Y, Al-Gazali LI, Ausems MG, Bitoun P, Cavalcanti DP, Krebs A, Le Merrer M, Mortier G, Shafeghati Y, Superti-Furga A, Robertson SP, Le Goff C, Muda AO, Paterlini-Brechot P, Munnich A, Cormier-Daire V. Am J Hum Genet. 2009;85(5):706-10. |
| Joint laxity Scoliosis | ||
| CANT1 | ||
| p|FS|P|245|R|3;RS#:587776509 p|FS|S|303|A|20;RS#:587776895 p|SUB|P|299|L;RS#:267606700 p|SUB|R|300|C;RS#:267606701 p|SUB|R|300|H;RS#:267606699 p|SUB|W|125|X;RS#:267606702 rs267606699 rs267606700 rs267606701 rs267606702 rs587776509 rs587776510 rs587776895 | ||
| 5' Untranslated Regions Adult Amino Acid Sequence Amino Acid Substitution Bone Diseases, Developmental Child, Preschool Chondrocyte Chromosomes, Human, Pair 17 Codon, Nonsense Cultured Cells Exons Fatal Outcome Females Fibroblasts Homo sapiens Homozygote Infant Infant, Newborn Male Missense Mutation Molecular Sequence Data Mutation Nuclear Family Nucleotidases RNA, Messenger |
Total: 29
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000463 | Anteverted nares | Very frequent (99-80%) |
| HP:0000470 | Short neck | Very frequent (99-80%) |
| HP:0000501 | Glaucoma | Very frequent (99-80%) |
| HP:0000520 | Proptosis | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001591 | Bell-shaped thorax | Very frequent (99-80%) |
| HP:0002999 | Patellar dislocation | Very frequent (99-80%) |
| HP:0003366 | Abnormality of the femoral neck or head region | Very frequent (99-80%) |
| HP:0003510 | Severe short stature | Very frequent (99-80%) |
| HP:0005280 | Depressed nasal bridge | Very frequent (99-80%) |
| HP:0005616 | Accelerated skeletal maturation | Very frequent (99-80%) |
| HP:0005692 | Joint hyperflexibility | Very frequent (99-80%) |
| HP:0008873 | Disproportionate short-limb short stature | Very frequent (99-80%) |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | Very frequent (99-80%) |
| HP:0100490 | Camptodactyly of finger | Very frequent (99-80%) |
| HP:0000368 | Low-set, posteriorly rotated ears | Frequent (79-30%) |
| HP:0000499 | Abnormal eyelash morphology | Frequent (79-30%) |
| HP:0000592 | Blue sclerae | Frequent (79-30%) |
| HP:0001006 | Hypotrichosis | Frequent (79-30%) |
| HP:0001629 | Ventricular septal defect | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002673 | Coxa valga | Frequent (79-30%) |
| HP:0002812 | Coxa vara | Frequent (79-30%) |
| HP:0002816 | Genu recurvatum | Frequent (79-30%) |
| HP:0002974 | Radioulnar synostosis | Frequent (79-30%) |
| HP:0003042 | Elbow dislocation | Frequent (79-30%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
| HP:0200055 | Small hand | Frequent (79-30%) |
Total: 16
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002652 | Skeletal dysplasia | 6 |
| HP:0001388 | Joint laxity | 3 |
| HP:0004322 | Short stature | 3 |
| HP:0000938 | Osteopenia | 2 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0001289 | Confusion | 1 |
| HP:0002650 | Scoliosis | 1 |
| HP:0002761 | Generalized joint laxity | 1 |
| HP:0002947 | Cervical kyphosis | 1 |
| HP:0003502 | Mild short stature | 1 |
| HP:0003510 | Severe short stature | 1 |
| HP:0005716 | Lethal skeletal dysplasia | 1 |
| HP:0006243 | Phalangeal dislocation | 1 |
| HP:0008897 | Postnatal growth retardation | 1 |
| HP:0010049 | Short metacarpal | 1 |
| HP:0100543 | Cognitive impairment | 1 |