Piebald trait-neurologic defects syndrome

Summary

Piebald trait-neurologic defects syndrome (MONDO:0008245) is a disease. A subtype of hypopigmentation of the skin — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 14

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		8	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

14 HPO clinical features (Orphanet curated; top 14 by frequency):

HPO ID	Term	Frequency
HP:0000992	Cutaneous photosensitivity	Very frequent (80-99%)
HP:0001029	Poikiloderma	Very frequent (80-99%)
HP:0001053	Hypopigmented skin patches	Very frequent (80-99%)
HP:0005599	Hypopigmentation of hair	Very frequent (80-99%)
HP:0000407	Sensorineural hearing impairment	Frequent (30-79%)
HP:0000534	Abnormal eyebrow morphology	Frequent (30-79%)
HP:0001249	Intellectual disability	Frequent (30-79%)
HP:0001251	Ataxia	Frequent (30-79%)
HP:0007400	Irregular hyperpigmentation	Frequent (30-79%)
HP:0012733	Macule	Frequent (30-79%)
HP:0000499	Abnormal eyelash morphology	Occasional (5-29%)
HP:0001100	Heterochromia iridis	Occasional (5-29%)
HP:0002251	Aganglionic megacolon	Occasional (5-29%)
HP:0008069	Neoplasm of the skin	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	piebald trait-neurologic defects syndrome
Mondo ID	MONDO:0008245
MeSH	C536955
OMIM	172850
Orphanet	2885
UMLS	C1868311
MedGen	358177
GARD	0005133
Is cancer (heuristic)	no

Also known as: piebald trait neurologic defects · telfer Sugar Jaeger syndrome · telfer-Sugar-Jaeger syndrome · White forelock and leukoderma with neurological impairment

Disease family

This is a subtype of hypopigmentation of the skin. 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 › integumentary system disorder › skin disorder › skin pigmentation disorder › hypopigmentation of the skin › piebald trait-neurologic defects syndrome

Related subtypes (9): Tietz syndrome, piebaldism, deafness, congenital, with total albinism, Ito hypomelanosis, albinism-hearing loss syndrome, deaf blind hypopigmentation syndrome, Yemenite type, syndromic oculocutaneous albinism, oculocutaneous albinism, linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies

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.