| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (57.3%) |
19838731 (2820683) |
Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q. Pavone P, Ruggieri M, Lombardo I, Sudi J, Biancheri R, Castellano-Chiodo D, Rossi A, Incorpora G, Nowak NJ, Christian SL, Pavone L, Dobyns WB. Eur J Pediatr. 2010;169(4):475-81. |
| Microcephaly Absence of the sacrum | ||
| Child, Preschool Chromosomes, Human, Pair 7 Females Gene Deletion Gene Duplication Homo sapiens Microcephaly Rectum | ||
| 2 (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 | ||
| 3 (32.7%) |
27862957 |
Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency. Castilla-Cortazar I, Rodriguez De Ita J, Martin-Estal I, Castorena F, Aguirre GA, Garcia de la Garza R, Elizondo MI. Am J Med Genet A. 2017;173(2):537-540. |
| Immunodeficiency Metaphyseal chondrodysplasia | ||
| IGF1 RMRP | ||
| rs1004469515 | ||
| Biological Markers Genetic Association Studies Genotype Hair Hirschsprung Disease Homo sapiens Immunologic Deficiency Syndromes Insulin-Like Growth Factor I Male Osteochondrodysplasias Phenotype Physical Examination Single Nucleotide Polymorphism | ||
| 4 (4.0%) |
28502327 |
Fanconi Anemia and Laron Syndrome. Castilla-Cortazar I, de Ita JR, Aguirre GA, Castorena-Torres F, Ortiz-Urbina J, Garcia-Magarino M, de la Garza RG, Diaz Olachea C, Elizondo Leal MI. Am J Med Sci. 2017;353(5):425-432. |
| Short stature | ||
| GH1 IGF1 IGFBP3 | ||
| Body Height Fanconi Anemia Females Growth Hormone Receptor Homo sapiens Human Growth Hormone Insulin-Like Growth Factor Binding Protein 3 Insulin-Like Growth Factor I Laron Syndrome Mexico Signal Transduction Young Adult | ||
| 4 (4.0%) |
24296660 |
A novel GHR intronic variant, c.266+83G>T , activates a cryptic 5' splice site causing severe GHR deficiency and classical GH insensitivity syndrome. Feigerlova E, Swinyard M, Derr MA, Farnsworth J, Andrew SF, Rosenfeld RG, Hwa V. Horm Res Paediatr. 2013;80(6):397-405. |
| Short stature | ||
| GHR IGF1 IGFBP3 | ||
| c|SUB|G|266+83|T | ||
| Base Sequence Child Growth Hormone Receptor Homo sapiens Insulin-Like Growth Factor I Introns Laron Syndrome Male Molecular Sequence Data RNA Splice Sites Severity of Illness Index Sibling Single Nucleotide Polymorphism | ||
| 4 (4.0%) |
24243634 |
A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency. Batey L, Moon JE, Yu Y, Wu B, Hirschhorn JN, Shen Y, Dauber A. J Clin Endocrinol Metab. 2014;99(1):E153-9. |
| Short stature | ||
| GATA1 IGF1 | ||
| Child DNA Copy Number Variations Dwarfism Gene Deletion Growth Charts Haploinsufficiency Homo sapiens Insulin-Like Growth Factor I Male | ||
| 4 (4.0%) |
22248785 |
A two year observation of the process of applying recombinant IGF-1 to treat short stature in children with primary IGF-1 deficiency -- case reports of 3 patients. Petriczko E, Wikiera B, Horodnicka-Jozwa A, Marcinkiewicz K, Szmit-Domagalska J, Kdzia A, Durzynska J, Broniarczyk J, Gabryelczyk B, Noczynska A, Walczak M. Pediatr Endocrinol Diabetes Metab. 2011;17(4):233-8. |
| Short stature | ||
| IGF1 | ||
| Body Height Child Dose-Response Relationship, Drug Females Follow-Up Studies Growth Disorders Homo sapiens Insulin-Like Growth Factor I Intercellular Signaling Peptides and Proteins Male Recombinant Proteins |
Total: 42
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000252 | Microcephaly | Very frequent (99-80%) |
| HP:0000399 | Prelingual sensorineural hearing impairment | Very frequent (99-80%) |
| HP:0000407 | Sensorineural hearing impairment | Very frequent (99-80%) |
| HP:0000708 | Behavioral abnormality | Very frequent (99-80%) |
| HP:0000736 | Short attention span | Very frequent (99-80%) |
| HP:0000752 | Hyperactivity | Very frequent (99-80%) |
| HP:0000855 | Insulin resistance | Very frequent (99-80%) |
| HP:0001249 | Intellectual disability | Very frequent (99-80%) |
| HP:0001256 | Intellectual disability, mild | Very frequent (99-80%) |
| HP:0001508 | Failure to thrive | Very frequent (99-80%) |
| HP:0001511 | Intrauterine growth retardation | Very frequent (99-80%) |
| HP:0001518 | Small for gestational age | Very frequent (99-80%) |
| HP:0001999 | Abnormal facial shape | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0007018 | Attention deficit hyperactivity disorder | Very frequent (99-80%) |
| HP:0008527 | Congenital sensorineural hearing impairment | Very frequent (99-80%) |
| HP:0008619 | Bilateral sensorineural hearing impairment | Very frequent (99-80%) |
| HP:0008846 | Severe intrauterine growth retardation | Very frequent (99-80%) |
| HP:0008850 | Severe postnatal growth retardation | Very frequent (99-80%) |
| HP:0008897 | Postnatal growth retardation | Very frequent (99-80%) |
| HP:0000135 | Hypogonadism | Frequent (79-30%) |
| HP:0000153 | Abnormality of the mouth | Frequent (79-30%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000684 | Delayed eruption of teeth | Frequent (79-30%) |
| HP:0000939 | Osteoporosis | Frequent (79-30%) |
| HP:0002750 | Delayed skeletal maturation | Frequent (79-30%) |
| HP:0003265 | Neonatal hyperbilirubinemia | Frequent (79-30%) |
| HP:0004209 | Clinodactyly of the 5th finger | Frequent (79-30%) |
| HP:0006266 | Small placenta | Frequent (79-30%) |
| HP:0030084 | Clinodactyly | Frequent (79-30%) |
| HP:0000294 | Low anterior hairline | Occasional (29-5%) |
| HP:0000508 | Ptosis | Occasional (29-5%) |
| HP:0000545 | Myopia | Occasional (29-5%) |
| HP:0000954 | Single transverse palmar crease | Occasional (29-5%) |
| HP:0000957 | Cafe-au-lait spot | Occasional (29-5%) |
| HP:0001270 | Motor delay | Occasional (29-5%) |
| HP:0001943 | Hypoglycemia | Occasional (29-5%) |
| HP:0001956 | Truncal obesity | Occasional (29-5%) |
| HP:0002162 | Low posterior hairline | Occasional (29-5%) |
| HP:0007911 | Congenital bilateral ptosis | Occasional (29-5%) |
| HP:0011120 | Concave nasal ridge | Occasional (29-5%) |
| HP:0011220 | Prominent forehead | Occasional (29-5%) |
Total: 2
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002652 | Skeletal dysplasia | 1 |
| HP:0004322 | Short stature | 1 |