Childhood disintegrative disorder

Summary

Childhood disintegrative disorder (MONDO:0015681) is a disease and 1 clinical trial. A subtype of pervasive developmental disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 100 000 (Europe)
• Phenotypes (HPO): 16
• Clinical trials: 1

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 100 000	2	Europe	Not yet validated

Signs & symptoms

Clinical features (HPO)

16 HPO clinical features (Orphanet curated; top 16 by frequency):

HPO ID	Term	Frequency
HP:0000729	Autistic behavior	Very frequent (80-99%)
HP:0001268	Mental deterioration	Very frequent (80-99%)
HP:0007064	Progressive language deterioration	Very frequent (80-99%)
HP:0100851	Abnormal emotion/affect behavior	Very frequent (80-99%)
HP:0000020	Urinary incontinence	Frequent (30-79%)
HP:0000733	Abnormal repetitive mannerisms	Frequent (30-79%)
HP:0000739	Anxiety	Frequent (30-79%)
HP:0001344	Absent speech	Frequent (30-79%)
HP:0002607	Bowel incontinence	Frequent (30-79%)
HP:0007086	Social and occupational deterioration	Frequent (30-79%)
HP:0012760	Reduced social responsiveness	Frequent (30-79%)
HP:0010864	Intellectual disability, severe	Occasional (5-29%)
HP:0000726	Dementia	Occasional (5-29%)
HP:0002333	Motor deterioration	Occasional (5-29%)
HP:0002376	Developmental regression	Occasional (5-29%)
HP:0001250	Seizure	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	childhood disintegrative disorder
Mondo ID	MONDO:0015681
Orphanet	168782
DOID	DOID:13487
ICD-11	1460615954
NCIT	C97164
SNOMED CT	61831009, 71961003
UMLS	C0236791
MedGen	472967
GARD	0006040
MedDRA	10008522
Is cancer (heuristic)	no

Also known as: childhood disintegrative disease · dementia infantilis · disintegrative psychosis · heller syndrome

Disease family

This is a subtype of pervasive developmental 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 developmental or physiological process › psychiatric disorder › mental disorder › developmental disorder of mental health › pervasive developmental disorder › childhood disintegrative disorder

Related subtypes (4): autism spectrum disorder, Rett syndrome, atypical autism, FOXG1 disorder

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
NCT00464477	Not specified	COMPLETED	Advanced Grandparental Age as a Risk Factor for Autism