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Phakomatosis pigmentokeratotica
1 associated gene
61 connected diseases
No signs/symptoms info
Disease Type of connection
Costello syndrome
Linear nevus sebaceus syndrome
Noonan syndrome
LEOPARD syndrome
Pilocytic astrocytoma
Cardiofaciocutaneous syndrome
Juvenile myelomonocytic leukemia
Capillary malformation - arteriovenous malformation
Hereditary gingival fibromatosis
Parkes Weber syndrome
Noonan syndrome-like disorder with loose anagen hair
CLOVE syndrome
Cowden syndrome
Hemimegalencephaly
Hereditary nonpolyposis colon cancer
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Autosomal agammaglobulinemia
SHORT syndrome
Craniopharyngioma
Hairy cell leukemia
Hashimoto-Pritzker syndrome
Joubert syndrome with orofaciodigital defect
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Chudley-McCullough syndrome
17q11 microdeletion syndrome
17q11.2 microduplication syndrome
Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
Watson syndrome
Split hand-split foot malformation
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Leprechaunism
Rabson-Mendenhall syndrome
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Hypotrichosis simplex
Li-Fraumeni syndrome
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Autosomal dominant nonsyndromic intellectual deficit
Renal tubular dysgenesis of genetic origin
Bilateral striopallidodentate calcinosis
Dermatofibrosarcoma protuberans
Familial multiple meningioma
Follicular lymphoma
Intravascular large B-cell lymphoma
Pediatric systemic lupus erythematosus
Papillary or follicular thyroid carcinoma
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: unknown
External references:
No OMIM references
1 MeSH reference: C537893
Gene symbol UniProt reference OMIM reference
HRAS P01112190020
No signs/symptoms info available.