Phakomatosis pigmentokeratotica

Summary

Phakomatosis pigmentokeratotica (MONDO:0017317) is a disease. A subtype of nervous system benign neoplasm — 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): 32

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		34	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

32 HPO clinical features (Orphanet curated; top 32 by frequency):

HPO ID	Term	Frequency
HP:0010817	Linear nevus sebaceous	Very frequent (80-99%)
HP:0025510	Nevus spilus	Very frequent (80-99%)
HP:0002650	Scoliosis	Frequent (30-79%)
HP:0000995	Melanocytic nevus	Occasional (5-29%)
HP:0002671	Basal cell carcinoma	Occasional (5-29%)
HP:0002859	Rhabdomyosarcoma	Occasional (5-29%)
HP:0004912	Hypophosphatemic rickets	Occasional (5-29%)
HP:0012758	Neurodevelopmental delay	Occasional (5-29%)
HP:0100556	Hemiatrophy	Occasional (5-29%)
HP:0000028	Cryptorchidism	Very rare (<1-4%)
HP:0000501	Glaucoma	Very rare (<1-4%)
HP:0000589	Coloboma	Very rare (<1-4%)
HP:0000826	Precocious puberty	Very rare (<1-4%)
HP:0000975	Hyperhidrosis	Very rare (<1-4%)
HP:0001004	Lymphedema	Very rare (<1-4%)
HP:0001028	Hemangioma	Very rare (<1-4%)
HP:0001250	Seizure	Very rare (<1-4%)
HP:0001269	Hemiparesis	Very rare (<1-4%)
HP:0001347	Hyperreflexia	Very rare (<1-4%)
HP:0001528	Hemihypertrophy	Very rare (<1-4%)
HP:0002232	Patchy alopecia	Very rare (<1-4%)
HP:0002414	Spina bifida	Very rare (<1-4%)
HP:0002666	Pheochromocytoma	Very rare (<1-4%)
HP:0002667	Nephroblastoma	Very rare (<1-4%)
HP:0011675	Arrhythmia	Very rare (<1-4%)
HP:0012056	Cutaneous melanoma	Very rare (<1-4%)
HP:0012583	Unilateral renal hypoplasia	Very rare (<1-4%)
HP:0030409	Renal transitional cell carcinoma	Very rare (<1-4%)
HP:0030880	Raynaud phenomenon	Very rare (<1-4%)
HP:0100702	Arachnoid cyst	Very rare (<1-4%)
HP:0100814	Blue nevus	Very rare (<1-4%)
HP:0100963	Hyperesthesia	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	phakomatosis pigmentokeratotica
Mondo ID	MONDO:0017317
MeSH	C537893
Orphanet	2874
ICD-11	960559196
SNOMED CT	723455009
UMLS	C2931658
MedGen	419860
GARD	0004311
Is cancer (heuristic)	no

Also known as: organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies · Phacomatosis pigmentokeratotica

Disease family

This is a subtype of nervous system benign neoplasm. 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 etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › benign neoplasm › nervous system benign neoplasm › phakomatosis pigmentokeratotica

Related subtypes (4): central nervous system organ benign neoplasm, sensory organ benign neoplasm, neurocutaneous melanocytosis, hemangioblastoma

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.