| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (63.5%) |
16116826 |
Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1. Garavelli L, Pedori S, Zanacca C, Caselli G, Loiodice A, Mantovani G, Ammenti A, Virdis R, Banchini G. Acta Biomed. 2005;76(1):45-8. |
| Round face Short metacarpal | ||
| GNAS | ||
| c|SUB|CAG||TAG | ||
| Chromogranins Exons Females Fingers GTP-Binding Protein alpha Subunits, Gs Heterozygote Homo sapiens Infant Metacarpus Mutation Phenotype Polymerase Chain Reaction Pseudohypoparathyroidism Toes | ||
| 2 (58.8%) |
15658617 |
Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome? Stoll C, Alembik Y. Genet Couns. 2004;15(4):421-8. |
| Downslanted palpebral fissures Brachydactyly Flat occiput | ||
| GNAS PTH | ||
| Adult Bone Density Bone Diseases Chromosome Aberrations Chromosome Deletion Chromosomes, Human, Pair 2 Craniofacial Abnormalities Females Fingers Follow-Up Studies Foot Deformities Genes, Recessive Homeodomain Proteins Homo sapiens Intellectual Disability Male Molecular Biology Point Mutation Sibling Syndrome Toes | ||
| 3 (51.9%) |
26112830 |
2q37.3 Deletion Syndrome: Two Cases with Highly Distinctive Facial Phenotype, Discordant Association with Schizophrenic Psychosis, and Shared Deletion Breakpoint Region on 2q37.3. Mehraein Y, Pfob M, Steinlein O, Aichinger E, Eggert M, Bubendorff V, Mannhart A, Muller S. Cytogenet Genome Res. 2015;146(1):33-8. |
| Round face Type E brachydactyly | ||
| Adult Brachydactyly Chromosome Breakpoints Chromosome Deletion Chromosomes, Human, Pair 2 Females Homo sapiens Male Paranoid Schizophrenia Phenotype Pseudohypoparathyroidism Psychotic Disorders | ||
| 4 (49.8%) |
14564152 |
Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome. Morava E, Czako M, Karteszi J, Cser B, Weissbecker K, Mehes K. Clin Dysmorphol. 2003;12(3):161-5. |
| Hemangioma Brachydactyly Fibular hypoplasia | ||
| Adult Body Height Congenital Hand Deformities Females Fingers Genes, Dominant Homo sapiens Infant Male Metacarpus | ||
| 5 (48.2%) |
28111183 |
Brachydactyly type E in an Italian family with 6p25 trisomy. Fontana P, Tortora C, Petillo R, Malacarne M, Cavani S, Miniero M, D'Ambrosio P, De Brasi D, Pisanti MA. Eur J Med Genet. 2017;60(3):195-199. |
| Brachydactyly Small hand | ||
| FOXC1 | ||
| Adult Brachydactyly Chromosomes, Human, Pair 6 Females Forkhead Transcription Factors Homo sapiens Infant Italy Middle Aged Trisomy | ||
| 5 (48.2%) |
26640227 |
Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review. Thomas-Teinturier C, Pereda A, Garin I, Diez-Lopez I, Linglart A, Silve C, de Nanclares GP. Am J Med Genet A. 2016;170(3):734-42. |
| Small hand | ||
| PTHLH | ||
| rs1555124505 | ||
| Adult Bone and Bones Brachydactyly Child Females Genetic Loci Homo sapiens Mutation Phenotype RNA Splice Sites Sequence Deletion | ||
| 7 (48.0%) |
322750 |
Limb anomalies in chromosomal aberrations. Pfeiffer RA, Santelmann R. Birth Defects Orig Artic Ser. 1977;13(1):319-37. |
| Syndactyly Radioulnar synostosis Phocomelia | ||
| Child Chromosome Aberrations Chromosomes, Human, 13-15 Chromosomes, Human, 16-18 Chromosomes, Human, 21-22 and Y Chromosomes, Human, 4-5 Chromosomes, Human, 6-12 and X Fingers Homo sapiens Infant Limb Deformities, Congenital Mosaicism Ploidies Toes Trisomy | ||
| 8 (37.8%) |
31041856 |
Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders. Truelove A, Mulay A, Prapa M, Casey RT, Adler AI, Offiah AC, Poole KES, Trotman J, Al Hasso N, Park SM. Am J Med Genet A. 2019;179(7):1330-1337. |
| Round face Skeletal dysplasia | ||
| GNAS PDE4D PRKAR1A PTH PTHLH | ||
| c|SUB|C|2273|G c|SUB|C|803|T;RS#:566198679 p|SUB|A|268|V p|SUB|P|758|R | ||
| Dysostoses Homo sapiens Intellectual Disability Male Middle Aged Osteochondrodysplasias Pseudohypoparathyroidism Signal Transduction | ||
| 9 (37.5%) |
26698251 |
Concomitance of types D and E brachydactyly: a case report. Tulay Koca T, Ciledag Ozdemir F. Eur Rev Med Pharmacol Sci. 2015;19(23):4549-52. |
| Brachydactyly Thoracic kyphosis | ||
| Adult Brachydactyly Congenital Foot Deformity Congenital Hand Deformities Females Fingers Homo sapiens | ||
| 9 (37.5%) |
15316962 |
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1. Zankl A, Zabel B, Hilbert K, Wildhardt G, Cuenot S, Xavier B, Ha-Vinh R, Bonafe L, Spranger J, Superti-Furga A. Am J Med Genet A. 2004;129A(2):144-8. |
| Platyspondyly Brachydactyly | ||
| COL2A1 | ||
| rs121912890 | ||
| Calcium-Binding Proteins DNA Primers Endoplasmic Reticulum Females Fingers Heterozygote Homo sapiens Infant, Newborn Male Osteochondrodysplasias Polymerase Chain Reaction Procollagen Sequence Analysis, DNA Toes |
Total: 10
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0005863 | Type E brachydactyly | Very frequent (99-80%) |
| HP:0010049 | Short metacarpal | Very frequent (99-80%) |
| HP:0004322 | Short stature | Frequent (79-30%) |
| HP:0005692 | Joint hyperflexibility | Frequent (79-30%) |
| HP:0009882 | Short distal phalanx of finger | Frequent (79-30%) |
| HP:0000256 | Macrocephaly | Occasional (29-5%) |
| HP:0002007 | Frontal bossing | Occasional (29-5%) |
| HP:0010076 | Aplasia/Hypoplasia of the distal phalanx of the hallux | Occasional (29-5%) |
| HP:0010743 | Short metatarsal | Occasional (29-5%) |
| HP:0100560 | Upper limb asymmetry | Occasional (29-5%) |
Total: 24
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001249 | Intellectual disability | 4 |
| HP:0004322 | Short stature | 4 |
| HP:0000311 | Round face | 3 |
| HP:0001156 | Brachydactyly | 3 |
| HP:0000708 | Behavioral abnormality | 2 |
| HP:0000717 | Autism | 2 |
| HP:0002652 | Skeletal dysplasia | 2 |
| HP:0000822 | Hypertension | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0000926 | Platyspondyly | 1 |
| HP:0001260 | Dysarthria | 1 |
| HP:0001385 | Hip dysplasia | 1 |
| HP:0001513 | Obesity | 1 |
| HP:0001733 | Pancreatitis | 1 |
| HP:0002360 | Sleep disturbance | 1 |
| HP:0005871 | Metaphyseal chondrodysplasia | 1 |
| HP:0007020 | Progressive spastic paraplegia | 1 |
| HP:0008848 | Moderately short stature | 1 |
| HP:0010049 | Short metacarpal | 1 |
| HP:0010579 | Cone-shaped epiphysis | 1 |
| HP:0010766 | Ectopic calcification | 1 |
| HP:0011927 | Short digit | 1 |
| HP:0100769 | Synovitis | 1 |
| HP:0200055 | Small hand | 1 |