Isolated short stature

Summary

Isolated short stature (MONDO:1010112) is a disease and 32 clinical trials. Top therapeutic interventions include somatropin, leuprolide, and lonapegsomatropin. A subtype of disorder of development or morphogenesis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 32

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	isolated short stature
Mondo ID	MONDO:1010112
Is cancer (heuristic)	no

Also known as: idiopathic short stature

Disease family

This is a subtype of disorder of development or morphogenesis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by developmental or physiological process › disorder of development or morphogenesis › isolated short stature

Related subtypes (189): precocious puberty, complex cortical dysplasia with other brain malformations, imperforate anus, microcephaly, demyelinating disease, hypospadias, bone development disease, primary basilar invagination, familial bicuspid aortic valve, camptodactyly of fingers, isolated congenital digital clubbing, aorta coarctation, gingival fibromatosis-progressive deafness syndrome, Eng-Strom syndrome, Morgagni-Stewart-Morel syndrome, familial partial lipodystrophy, Dunnigan type, megalodactyly, odontomatosis-aortae esophagus stenosis syndrome, otodental syndrome, oculodental syndrome, Rutherfurd type, spina bifida, steatocystoma multiplex-natal teeth syndrome, distal symphalangism, thumb deformity-alopecia-pigmentation anomaly syndrome, double uterus-hemivagina-renal agenesis syndrome, amelogenesis imperfecta type 1G, Bloom syndrome, cardiac valvular defect, developmental, isolated cerebellar hypoplasia/agenesis, cleft palate-stapes fixation-oligodontia syndrome, Jalili syndrome, craniodiaphyseal dysplasia, craniofacial dyssynostosis, deafness-oligodontia syndrome, duodenal atresia, Fowler syndrome, multiple intestinal atresia, natal teeth-intestinal pseudoobstruction-patent ductus syndrome, atresia of small intestine, mulibrey nanism, oculocerebral hypopigmentation syndrome, Cross type, familial osteodysplasia, Anderson type, pancreatic agenesis, postaxial polydactyly-dental and vertebral anomalies syndrome, familial primary pulmonary hypoplasia, renal tubular dysgenesis of genetic origin, Rothmund-Thomson syndrome, familial isolated congenital asplenia, subaortic stenosis, membranous, non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome, corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome, CK syndrome, Ogden syndrome, Nance-Horan syndrome, colonic atresia, Aicardi syndrome, torticollis-keloids-cryptorchidism-renal dysplasia syndrome, 46,XY complete gonadal dysgenesis, loose anagen syndrome, lung agenesis-heart defect-thumb anomalies syndrome, Chudley-McCullough syndrome, macrocephaly-autism syndrome, DNA ligase IV deficiency, horizontal gaze palsy with progressive scoliosis, cataract - congenital heart disease - neural tube defect syndrome, autosomal recessive frontotemporal pachygyria, craniofacial dysplasia - osteopenia syndrome, porencephaly-microcephaly-bilateral congenital cataract syndrome, congenital short bowel syndrome, familial median cleft of the upper and lower lips, progeroid features-hepatocellular carcinoma predisposition syndrome, progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, aneurysm of sinus of Valsalva, blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome, medullary sponge kidney, isolated congenital syngnathia, cleft lip and alveolus, diprosopus, T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency, high anorectal malformation, intermediate anorectal malformation, low anorectal malformation, microcephaly-polymicrogyria-corpus callosum agenesis syndrome, cordiform uterus, septate uterus, bicornuate uterus, uterine hypoplasia, agenesis and aplasia of uterine body, uterine cervical aplasia and agenesis, longitudinal vaginal septum, transverse vaginal septum, axial mesodermal dysplasia spectrum, multicystic dysplastic kidney, diabetic embryopathy, congenital microgastria, isolated cleft lip, cleft lip/palate, hereditary gingival fibromatosis, congenital bronchobiliary fistula, congenital hydrocephalus, maternal hyperthermia induced birth defects, diphallia, epibulbar lipodermoid-preauricular appendage-polythelia syndrome, bronchogenic cyst, duplication of urethra, hypohidrotic ectodermal dysplasia, Lowe-Kohn-Cohen syndrome, biliary atresia with splenic malformation syndrome, congenital pulmonary airway malformation, familial intestinal malrotation-facial anomalies syndrome, megalencephaly, cephalocele, cerebral cortical dysplasia, L1 syndrome, familial omphalocele syndrome with facial dysmorphism, penoscrotal transposition, pericardial and diaphragmatic defect, hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome, congenital deformities of limbs, familial isolated clinodactyly of fingers, congenital shoulder dislocation, congenital elbow dislocation, congenital knee dislocation, congenital patella dislocation, macrodactyly of fingers, macrodactyly of toes, upper limb hypertrophy, lower limb hypertrophy, duplication of the pituitary gland, diencephalic-mesencephalic junction dysplasia, steroid dehydrogenase deficiency-dental anomalies syndrome, congenital achiasma, tracheal agenesis, renal agenesis, hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome, isolated splenogonadal fusion, Joubert syndrome, congenital generalized hypercontractile muscle stiffness syndrome, congenital bilateral absence of vas deferens, congenital portosystemic shunt, lissencephaly spectrum disorders, Berardinelli-Seip congenital lipodystrophy, congenital primary megaureter, craniorachischisis, vaginal atresia, bronchopulmonary dysplasia, dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome, aniridia, atypical Werner syndrome, X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome, anterior segment dysgenesis, congenital esophageal diverticulum, renal hypoplasia, renal dysplasia, overgrowth syndrome, developmental defect during embryogenesis, acalvaria, congenital aortic valve insufficiency, congenital anomaly of superior vena cava, congenital anomaly of hepatic vein, posterior hypospadias, isolated micropenis, isolated partial vaginal agenesis, anorectal malformation, pulmonary agenesis, congenital tricuspid malformation, Noonan syndrome and Noonan-related syndrome, coronary sinus stenosis, coronary sinus atresia, cartilage development disorder, syndactyly, polydactyly, brachydactyly, neurocristopathy, congenital absence of septum pellucidum, branchial arch disease, congenital anomaly of cardiovascular system, atelencephaly, aprosencephaly, aortic valve stenosis, hereditary lethal multiple congenital anomalies/dysmorphic syndrome, congenital agenesis of the scrotum, keratinization disease, lactation disease, COACH syndrome, constitutional delay of growth and puberty, isolated congenital femoral bifurcation, congenital peritoneal encapsulation, congenital high airway obstruction syndrome

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 32.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	13
PHASE3	10
PHASE4	4
PHASE2	3
PHASE1/PHASE2	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00458263	PHASE4	COMPLETED	Biochemical Markers of Growth Response to Growth Hormone Treatment in Children With Idiopathic Short Stature
NCT00840944	PHASE4	UNKNOWN	A 4 Year Combination Therapy of Growth Hormone and (GnRH) Agonist in Children With a Short Predicted Height
NCT01246219	PHASE4	COMPLETED	Short Stature Related Distress
NCT01438801	PHASE4	WITHDRAWN	Predictive Value of the Insulin-like Growth Factor-1 (IGF-1) Generation Test for the Growth Response to Growth Hormone Treatment (PRED-IGF)
NCT06927310	PHASE3	RECRUITING	The Efficacy and Safety of Inpegsomatropin Injection in Children With Idiopathic Short Stature
NCT07221851	PHASE3	RECRUITING	Trial Investigating the Efficacy and Safety of Weekly Lonapegsomatropin Compared to Daily Somatropin in Children and Adolescents With Short Stature or Growth Failure Due to Growth Hormone Sufficient Disorders
NCT00262249	PHASE3	COMPLETED	Effect of Growth Hormone in Children With Growth Hormone Deficiency
NCT00355030	PHASE3	COMPLETED	Somatropin + Leuprorelin vs Somatropin Alone in Pubertal Children With Idiopathic Short Stature
NCT00396097	PHASE3	COMPLETED	Individualized, Target-Driven Treatment Of Children With Idiopathic Short Stature
NCT00965484	PHASE3	COMPLETED	Genotropin Study Assessing Use of Injection Pen
NCT01248416	PHASE3	COMPLETED	Aromatase Inhibitors, Alone And In Combination With Growth Hormone In Adolescent Boys With Idiopathic Short Stature
NCT01746862	PHASE3	COMPLETED	A Phase 3 Study to Evaluate the Safety and Efficacy of Saizen® in Children With Idiopathic Short Stature (ISS)
NCT01778023	PHASE3	COMPLETED	Efficacy and Safety of Recombinant Human Growth Hormone on Height Velocity in Subjects With Idiopathic Short Stature
NCT01786902	PHASE3	COMPLETED	Efficacy and Safety of DA-3002 in Children With Idiopathic Short Stature
NCT06382155	PHASE2	RECRUITING	A Phase 2 Study of Vosoritide in Children With Idiopathic Short Stature
NCT07450053	PHASE1/PHASE2	NOT_YET_RECRUITING	A Study (Phase 1b/2) of GenSci134 in Children With Idiopathic Short Stature (ISS)
NCT00488124	PHASE2	COMPLETED	Growth Response in Short Children Suffering From a Disease With Growth Retardation and Treated With Somatropin
NCT05838885	PHASE2	COMPLETED	A Trial of YPEG-rhGH in Children With Short Stature
NCT01401244	PHASE1	COMPLETED	Bioequivalence of Two Somatropin Products (Norditropin® Versus Genotropin®) in Healthy Adult Volunteers
NCT01604395	Not specified	RECRUITING	Long-term Safety and Effectiveness of Growth Hormone With GHD, TS, CRF, SGA , ISS and PWS in Children
NCT04798690	Not specified	RECRUITING	Long-term Safety and Effectiveness of Growtropin®-II Treatment in Children With Short Stature
NCT05858606	Not specified	RECRUITING	Multidisciplinary Evaluation and a Genome-wide Analysis in a Cohort of Idiopathic Short Stature Patients
NCT06309979	Not specified	RECRUITING	A Study to Assess Growth in Children With Idiopathic Short Stature
NCT00121875	Not specified	TERMINATED	Study to Identify Markers of Insulin Resistance During Growth Hormone Treatment for Short Stature
NCT00263445	Not specified	TERMINATED	Constructing an Insulin-Like Growth Factor-based Prediction Model
NCT00710307	Not specified	COMPLETED	Epidemiology Study on Insulin-like Growth Factor-1 in Children With Idiopathic Short Stature (EPIGROW Study)
NCT01070173	Not specified	COMPLETED	Ghrelin Levels in Children With Poor Growth
NCT01504802	Not specified	COMPLETED	Pharmacodynamics of CNP During Growth Hormone Treatment
NCT01543867	Not specified	COMPLETED	Safety and Efficacy of Long-term Somatropin Treatment in Children
NCT02973061	Not specified	UNKNOWN	The Impact of the Use of Recombinant Human Growth Hormone on ADHD Characteristics in Children and Adolescents
NCT04020913	Not specified	COMPLETED	Skeletal Muscle Effects of GH in Boys
NCT05894876	Not specified	TERMINATED	A Study of the Genetic Basis of Response to Growth Hormone Treatment in Children With Idiopathic Short Stature

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
SOMATROPIN	4	5
LEUPROLIDE	4	1
LONAPEGSOMATROPIN	4	1
TRIPTORELIN	4	1
VOSORITIDE	4	1
INPEGSOMATROPIN	2	1