Isolated congenital growth hormone deficiency

Summary

Isolated congenital growth hormone deficiency (MONDO:0000050) is a disease (an umbrella term covering 7 Mondo subtypes) and 1 clinical trial. A subtype of combined pituitary hormone deficiencies, genetic form — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-5 / 10 000 (Europe)
• Umbrella term: 7 Mondo subtypes
• Phenotypes (HPO): 19
• Clinical trials: 1

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-5 / 10 000		Europe	Not yet validated

Signs & symptoms

Clinical features (HPO)

19 HPO clinical features (Orphanet curated; top 19 by frequency):

HPO ID	Term	Frequency
HP:0000830	Anterior hypopituitarism	Very frequent (80-99%)
HP:0001510	Growth delay	Very frequent (80-99%)
HP:0002750	Delayed skeletal maturation	Very frequent (80-99%)
HP:0004322	Short stature	Very frequent (80-99%)
HP:0000295	Doll-like facies	Frequent (30-79%)
HP:0000823	Delayed puberty	Frequent (30-79%)
HP:0000824	Decreased response to growth hormone stimulation test	Frequent (30-79%)
HP:0001620	Abnormally high-pitched voice	Frequent (30-79%)
HP:0001998	Neonatal hypoglycemia	Frequent (30-79%)
HP:0003199	Decreased muscle mass	Frequent (30-79%)
HP:0005280	Depressed nasal bridge	Frequent (30-79%)
HP:0006579	Prolonged neonatal jaundice	Frequent (30-79%)
HP:0008070	Sparse hair	Frequent (30-79%)
HP:0011220	Prominent forehead	Frequent (30-79%)
HP:0012743	Abdominal obesity	Frequent (30-79%)
HP:0030353	Decreased serum insulin-like growth factor 1	Frequent (30-79%)
HP:0100678	Premature skin wrinkling	Frequent (30-79%)
HP:0002857	Genu valgum	Occasional (5-29%)
HP:0030260	Microphallus	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	isolated congenital growth hormone deficiency
Mondo ID	MONDO:0000050
OMIM	262400
Orphanet	631
DOID	DOID:0060870
ICD-11	936501166
SNOMED CT	2109003
UMLS	C5679572
MedGen	1843308
GARD	0012556
MedDRA	10035083
Is cancer (heuristic)	no

Also known as: congenital IGHD · congenital isolated GH deficiency · congenital isolated growth hormone deficiency · ICGHD · isolated growth hormone deficiency

Disease family

This is a subtype of combined pituitary hormone deficiencies, genetic form. 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 › nervous system disorder › congenital nervous system disorder › combined pituitary hormone deficiencies, genetic form › isolated congenital growth hormone deficiency

Related subtypes (8): septooptic dysplasia, congenital isolated adrenocorticotropic hormone deficiency, non-acquired combined pituitary hormone deficiency with spine abnormalities, short stature-pituitary and cerebellar defects-small sella turcica syndrome, pituitary hormone deficiency, combined, 6, panhypopituitarism, pituitary hormone deficiency, combined, 1, pituitary hormone deficiency, combined or isolated, 8

Subtypes (7): isolated growth hormone deficiency type II, isolated growth hormone deficiency type IA, short stature due to growth hormone qualitative anomaly, isolated growth hormone deficiency type III, isolated growth hormone deficiency type IB, isolated growth hormone deficiency, type 4, isolated growth hormone deficiency, type 5

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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03812913	Not specified	RECRUITING	Neuropsychological Assessment of Children and Adolescents With Turner Syndrome