Hereditary endocrine growth disease

Summary

Hereditary endocrine growth disease (MONDO:0015514) is a disease (an umbrella term covering 8 Mondo subtypes) and 76 clinical trials. Top therapeutic interventions include somatropin, somatrem, and somavaratan. A subtype of endocrine system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 8 Mondo subtypes
• Clinical trials: 76

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	hereditary endocrine growth disease
Mondo ID	MONDO:0015514
MeSH	D006130
Orphanet	156643
UMLS	C5680637
MedGen	1842942
GARD	0020012
Is cancer (heuristic)	no

Also known as: genetic endocrine growth disease · growth disorder

Disease family

This is a subtype of endocrine system disorder. 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 body system or component › endocrine system disorder › hereditary endocrine growth disease

Related subtypes (47): autoimmune disorder of endocrine system, parathyroid gland disorder, endocrine gland neoplasm, gonadal disorder, pancreas disorder, thyroid gland disorder, pituitary gland disorder, thymus gland disorder, liver disorder, adrenal gland disorder, hyperinsulinemic hypoglycemia, non-neoplastic bile duct disorder, endocrine tuberculosis, campomelic dysplasia, polycystic ovary syndrome, dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome, genito-palato-cardiac syndrome, hypoinsulinemic hypoglycemia and body hemihypertrophy, Bamforth-Lazarus syndrome, blepharophimosis - intellectual disability syndrome, SBBYS type, Wolfram-like syndrome, hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, estrogen resistance syndrome, short stature, microcephaly, and endocrine dysfunction, polyendocrinopathy, pituitary deficiency, diencephalic syndrome, muscular pseudohypertrophy-hypothyroidism syndrome, neonatal iodine exposure, disorders of vitamin D metabolism, rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome, duplication of the pituitary gland, familial hypocalciuric hypercalcemia, hypothalamic adipsic hypernatraemia syndrome, Leydig cell hypoplasia, inherited obesity, beta thalassemia, thyroid hormone metabolism, abnormal, neuroendocrine disorder, NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, parneoplastic endocrine syndrome, 17,20-lyase deficiency, isolated, 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete, 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial, disorder of GNAS inactivation, acquired hypothalamic obesity

Subtypes (8): cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, growth hormone insensitivity syndrome, permanent congenital hypothyroidism, congenital adrenal hyperplasia, non-acquired pituitary hormone deficiency, inherited primary ovarian failure, Zerres Rietschel Majewski syndrome, microdontia hypodontia short stature

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

Drugs indicated for this disease

0 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Somatropin	Phase 3 (in late-stage trials)

Clinical trials & evidence

Clinical trials

Clinical trials: 76.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	54
PHASE3	11
PHASE2	4
PHASE1	4
PHASE2/PHASE3	2
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00125164	PHASE3	COMPLETED	Prepubertal Children With Growth Failure Associated With Primary Insulin-Like Growth Factor-1 (IGF-1) Deficiency
NCT00125190	PHASE2/PHASE3	COMPLETED	Recombinant Human Insulin-Like Growth Factor (rhIGF-1) Treatment of Short Stature Associated With IGF-1 Deficiency
NCT00174408	PHASE3	COMPLETED	Treatment Of Children With Short Stature At An Age Of 3-7 Years Who Were Born Small For Gestational Age
NCT00174421	PHASE3	COMPLETED	Treatment Of Short Stature With Genotropin In Children Born Small For Gestational Age Until Final Height
NCT00191074	PHASE3	COMPLETED	Amendment (g) Unblinded Extension Phase of Somatropin in Patients With Idiopathic Short Stature
NCT00262249	PHASE3	COMPLETED	Effect of Growth Hormone in Children With Growth Hormone Deficiency
NCT00330668	PHASE3	TERMINATED	Treatment of Children and Adolescents With Growth Failure Associated With Primary IGF-1 Deficiency
NCT00450190	PHASE3	COMPLETED	Saizen® E-Device User Trial
NCT01073605	PHASE3	COMPLETED	Genotropin Treatment in Short Prepubertal Children With Intra-Uterine Growth Retardation
NCT01778023	PHASE3	COMPLETED	Efficacy and Safety of Recombinant Human Growth Hormone on Height Velocity in Subjects With Idiopathic Short Stature
NCT02339090	PHASE3	COMPLETED	Long-Acting Growth Hormone in Children Compared to Daily rhGH
NCT02413138	PHASE2/PHASE3	TERMINATED	Versartis Trial in Pre-pubertal Japanese Children With Growth Hormone Deficiency (GHD) to Assess Long-Acting Growth Hormone (Somavaratan, VRS-317)
NCT06103513	PHASE3	UNKNOWN	Randomized Clinical Trial of Two Different Initial Growth Hormone Doses in Children
NCT05382637	PHASE2	ACTIVE_NOT_RECRUITING	Growth Hormone in a Patient With a Dominant-Negative GHR Mutation
NCT00001190	PHASE2	COMPLETED	Study of Luteinizing Hormone-Releasing Hormone Analog (LHRHa) in Pubertal Patients With Extreme Short Stature
NCT00139451	PHASE2	COMPLETED	Nutrients and Hormones: Effects in Boys With Disordered Growth
NCT02428296	PHASE2	COMPLETED	Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation
NCT06329388	PHASE1/PHASE2	COMPLETED	Evaluating the Effects of an Oral Protein Supplement on Children’s Growth Patterns
NCT00473187	PHASE1	UNKNOWN	Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic Rickets
NCT01401244	PHASE1	COMPLETED	Bioequivalence of Two Somatropin Products (Norditropin® Versus Genotropin®) in Healthy Adult Volunteers
NCT01512095	PHASE1	WITHDRAWN	Bioequivalence of Two Products (Norditropin® Versus Nutropin AQ®) in Healthy Adult Volunteers
NCT01943084	PHASE1	COMPLETED	A Trial to Investigate the Bioequivalence of Norditropin® (Somatropin) Versus Genotropin® (Somatropin) in Healthy Adult Subjects
NCT02769975	Not specified	RECRUITING	Evaluation of Children With Endocrine and Metabolic-Related Conditions
NCT03072537	Not specified	RECRUITING	CrescNet - Growth Monitoring Network
NCT03283852	Not specified	RECRUITING	Identifying New Genetic Causes to Development Disorders
NCT03761498	Not specified	ACTIVE_NOT_RECRUITING	Is There a Microbiome Associated With Poor Growth in Preterm Infants?
NCT05242224	Not specified	ACTIVE_NOT_RECRUITING	Evolutionary Nutrition Pilot: Enhancing Fetal Growth and Brain Development
NCT05916144	Not specified	ACTIVE_NOT_RECRUITING	The Effect of Interaction-Based Early Education Program Applied to Grandparents on the Grandchildren’s Health
NCT06037473	Not specified	RECRUITING	The Efficacy and Safety of PEGylated GH for the Treatment of Short Stature in Chinese Children-GLOBE Reg
NCT06662045	Not specified	RECRUITING	Impact of Iron Deficiency Anemia on Neurobehavioral and Cognitive Development in Children Aged 6 to 24 Months
NCT00004793	Not specified	COMPLETED	Pilot Study of the Effect of Baclofen and Bromocriptine on Luteinizing Hormone Secretion in Pubertal Children
NCT00097539	Not specified	COMPLETED	National Cooperative Growth Study (NCGS): A Post-marketing Surveillance Program for Nutropin, Nutropin AQ, Nutropin Depot, and Protropin
NCT00334945	Not specified	COMPLETED	Evaluate the Effect of Growth Hormone (GH) Treatment on Fibroblast Growth Factor 23, a Known Phosphaturic Agent
NCT00378859	Not specified	COMPLETED	The Effect of Milk and Meat on IGFs in Prepubertal Boys
NCT01259778	Not specified	COMPLETED	To Assess the Level of Adherence of Subjects Receiving SAIZEN® Via Easypod™ in South Korea
NCT01263457	Not specified	COMPLETED	To Assess the Level of Adherence of Subjects Receiving SAIZEN® Via Easypod™ in the UK
NCT01267526	Not specified	COMPLETED	A Canadian, Multi-centre, Observational Registry to Study Adherence and Long Term Outcomes of Therapy in Pediatric Subjects Using SAIZEN® Via Easypod™ Auto-injector for Growth Hormone Treatment
NCT01291394	Not specified	COMPLETED	To Assess the Level of Adherence of Subjects Receiving SAIZEN® Via Easypod™ in France
NCT01296425	Not specified	COMPLETED	To Assess the Level of Adherence of Subjects Receiving SAIZEN® Via Easypod™ in Austria
NCT01307059	Not specified	COMPLETED	To Assess the Level of Adherence of Subjects Receiving SAIZEN® Via Easypod™ in Sweden

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
SOMATROPIN	4	15
SOMATREM	4	1
SOMAVARATAN	3	2
DESLORELIN	2	1
MIRANSERTIB	2	1