congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies
disease diseaseOn this page
Summary
congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies (MONDO:0019857) is a disease. A subtype of transient congenital hypothyroidism due to maternal factor — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-9 / 100 000 (Europe) [Orphanet-validated]
- Phenotypes (HPO): 21
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 | Europe | Validated |
Signs & symptoms
Clinical features (HPO)
21 HPO clinical features (Orphanet curated; top 21 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0011437 | Maternal autoimmune disease | Very frequent (80-99%) |
| HP:0030057 | Autoimmune antibody positivity | Very frequent (80-99%) |
| HP:0000260 | Wide anterior fontanel | Frequent (30-79%) |
| HP:0000958 | Dry skin | Frequent (30-79%) |
| HP:0001265 | Hyporeflexia | Frequent (30-79%) |
| HP:0001537 | Umbilical hernia | Frequent (30-79%) |
| HP:0002019 | Constipation | Frequent (30-79%) |
| HP:0002926 | Abnormality of thyroid physiology | Frequent (30-79%) |
| HP:0011968 | Feeding difficulties | Frequent (30-79%) |
| HP:0031098 | Decreased thyroid-stimulating hormone level | Frequent (30-79%) |
| HP:0031219 | Reduced radioactive iodine uptake | Frequent (30-79%) |
| HP:0031507 | Decreased circulating thyroxine level | Frequent (30-79%) |
| HP:0100786 | Hypersomnia | Frequent (30-79%) |
| HP:0000280 | Coarse facial features | Occasional (5-29%) |
| HP:0001319 | Neonatal hypotonia | Occasional (5-29%) |
| HP:0002908 | Conjugated hyperbilirubinemia | Occasional (5-29%) |
| HP:0006579 | Prolonged neonatal jaundice | Occasional (5-29%) |
| HP:0025379 | Anti-thyroid peroxidase antibody positivity | Occasional (5-29%) |
| HP:0025483 | Abnormal circulating thyroglobulin concentration | Occasional (5-29%) |
| HP:0500011 | Moon facies | Occasional (5-29%) |
| HP:0000853 | Goiter | Excluded (0%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies |
| Mondo ID | MONDO:0019857 |
| Orphanet | 95715 |
| SNOMED CT | 717333002 |
| UMLS | C4273914 |
| MedGen | 903571 |
| GARD | 0019297 |
| Is cancer (heuristic) | no |
Disease family
This is a subtype of transient congenital hypothyroidism due to maternal factor. 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 › thyroid gland disorder › hypothyroidism › congenital hypothyroidism › transient congenital hypothyroidism › transient congenital hypothyroidism due to maternal factor › congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies
Related subtypes (2): fetal iodine syndrome, congenital hypothyroidism due to maternal intake of antithyroid drugs
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: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.