Hereditary photodermatosis

Summary

Hereditary photodermatosis (MONDO:0015951) is a disease (an umbrella term covering 6 Mondo subtypes). A subtype of hereditary skin disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 6 Mondo subtypes

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	hereditary photodermatosis
Mondo ID	MONDO:0015951
Orphanet	183490
UMLS	C5679594
MedGen	1842494
GARD	0020277
Is cancer (heuristic)	no

Also known as: genetic photosensitivity · genetic skin photosensitivity · photogenodermatosis · photogénodermatose

Disease family

This is a subtype of hereditary skin 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 etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › hereditary skin disorder › hereditary photodermatosis

Related subtypes (113): alopecia, isolated, reticulate pigment disorder, dyschromatosis universalis hereditaria, psoriasis, porokeratosis, hereditary papulotranslucent acrokeratoderma, acrokeratosis verruciformis, Tietz syndrome, familial primary localized cutaneous amyloidosis, isolated anhidrosis with normal sweat glands, aplasia cutis congenita, blue rubber bleb nevus, Darier disease, dermatosis papulosa nigra, autosomal dominant vibratory urticaria, absence of fingerprints-congenital milia syndrome, pilomatrixoma, spinocerebellar ataxia type 34, isolated congenital adermatoglyphia, isolated hyperchlorhidrosis, hyperkeratosis-hyperpigmentation syndrome, hyperpigmentation with or without hypopigmentation, familial progressive, lichen sclerosus et atrophicus, lichen planus, familial, monilethrix, hereditary mucoepithelial dysplasia, schwannomatosis, nevus, epidermal, familial multiple nevi flammei, linear nevus sebaceous syndrome, progressive osseous heteroplasia, Hailey-Hailey disease, piebaldism, familial pityriasis rubra pilaris, scalp defects-postaxial polydactyly syndrome, seborrheic keratosis, Sneddon syndrome, sebocystomatosis, stiff skin syndrome, familial multiple discoid fibromas, urticaria, aquagenic, urticaria, familial localized heat, vasculitis, lymphocytic, nodular, VPS13A-related neurodegenerative disease, acrogeria, anhidrosis, familial generalized, with abnormal or absent sweat glands, deafness, congenital, with total albinism, epidermodysplasia verruciformis, combined immunodeficiency with skin granulomas, lipoid proteinosis, neurocutaneous melanocytosis, neutrophil actin dysfunction, albinism-hearing loss syndrome, X-linked reticulate pigmentary disorder, CHILD syndrome, linear skin defects with multiple congenital anomalies, dermatitis herpetiformis, familial, keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome, H syndrome, hydroa vacciniforme, familial, poikiloderma with neutropenia, acne, infundibulocystic basal cell carcinoma, Becker nevus syndrome, generalized basaloid follicular hamartoma syndrome, sweet syndrome, MEDNIK syndrome, seborrhea-like dermatitis with psoriasiform elements, DK1-congenital disorder of glycosylation, body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency, Legius syndrome, CLOVES syndrome, encephalocraniocutaneous lipomatosis, familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome, Maffucci syndrome, hereditary sclerosing poikiloderma with tendon and pulmonary involvement, cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis, skin creases, congenital symmetric circumferential, 2, nevus comedonicus syndrome, severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, chronic mucocutaneous candidiasis, segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome, hereditary mucosal leukokeratosis, inherited ichthyosis, Cowden disease, juvenile hyaline fibromatosis, osteopathia striata-pigmentary dermopathy-white forelock syndrome, syndromic oculocutaneous albinism, phakomatosis pigmentokeratotica, neonatal inflammatory skin and bowel disease, lamellar ichthyosis, PENS syndrome, familial multiple fibrofolliculoma, autosomal recessive cutis laxa type 2A, familial chilblain lupus, familial keratoacanthoma, keratosis pilaris atrophicans, Cobb syndrome, oculocutaneous albinism, hereditary palmoplantar keratoderma, inherited epidermolysis bullosa, ectodermal dysplasia syndrome, subcutaneous panniculitis-like T-cell lymphoma, hereditary angioedema, hereditary lipodystrophy, X-linked chondrodysplasia punctata 2, multiple benign circumferential skin creases on limbs 1, lentigo, familial acne inversa, familial acanthosis nigricans, large congenital melanocytic nevus, familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome, inflammatory poikiloderma with hair abnormalities and acral keratoses

Subtypes (6): Bloom syndrome, Rothmund-Thomson syndrome, UV-sensitive syndrome, xeroderma pigmentosum-Cockayne syndrome complex, inherited porphyria, xeroderma pigmentosum

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.