MCID: PHK006
MIFTS: 14

Phakomatosis Pigmentokeratotica

Categories: Fetal diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Phakomatosis Pigmentokeratotica

MalaCards integrated aliases for Phakomatosis Pigmentokeratotica:

Name: Phakomatosis Pigmentokeratotica 58
Phacomatosis Pigmentokeratotica 70

Characteristics:

Orphanet epidemiological data:

58
phakomatosis pigmentokeratotica
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 45 C537893
ICD10 via Orphanet 33 Q85.8
UMLS via Orphanet 71 C2931658
Orphanet 58 ORPHA2874
UMLS 70 C2931658

Summaries for Phakomatosis Pigmentokeratotica

MalaCards based summary : Phakomatosis Pigmentokeratotica, also known as phacomatosis pigmentokeratotica, is related to renal hypoplasia and rickets. An important gene associated with Phakomatosis Pigmentokeratotica is HRAS (HRas Proto-Oncogene, GTPase).

Wikipedia : 73 Phakomatosis pigmentokeratotica is a rare neurocutanous condition characterized by the combination of an... more...

Related Diseases for Phakomatosis Pigmentokeratotica

Diseases related to Phakomatosis Pigmentokeratotica via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 renal hypoplasia 10.1
2 rickets 10.1
3 hereditary hypophosphatemic rickets 10.1

Symptoms & Phenotypes for Phakomatosis Pigmentokeratotica

Drugs & Therapeutics for Phakomatosis Pigmentokeratotica

Search Clinical Trials , NIH Clinical Center for Phakomatosis Pigmentokeratotica

Genetic Tests for Phakomatosis Pigmentokeratotica

Anatomical Context for Phakomatosis Pigmentokeratotica

Publications for Phakomatosis Pigmentokeratotica

Articles related to Phakomatosis Pigmentokeratotica:

(show top 50) (show all 64)
# Title Authors PMID Year
1
Phacomatosis spilosebacea: A new name for a distinctive binary genodermatosis. 61
33583608 2021
2
A rare case of phakomatosis pigmentokeratotica associated with unilateral renal hypoplasia. 61
32769312 2020
3
Gene Mutation Mapping in a Fatal Case of Phacomatosis Pigmentokeratotica Happle. 61
32725253 2020
4
Phacomatosis pigmentokeratotica without extracutaneous abnormalities: 12-year follow-up. 61
31788526 2019
5
Phakomatosis Pigmentokeratotica. 61
31597022 2019
6
Phacomatosis pigmentokeratotica: Postzygotic HRAS mutation with malignant degeneration of the sebaceous naevus. 61
30767209 2019
7
Papular nevus spilus syndrome: old and new aspects of a mosaic RASopathy. 61
30827948 2019
8
Phacomatosis pigmentokeratotica: a case of HRAS mosaicism causing rhabdomyosarcoma. 61
29430633 2018
9
A Case of Phacomatosis Pigmentokeratotica Associated With Multiple Basal Cell Carcinomas. 61
28937433 2018
10
Epidermal nevus syndromes: New insights into whorls and swirls. 61
29044700 2018
11
Phacomatosis pigmentokeratotica and precocious puberty associated with HRAS mutation. 61
28489335 2018
12
Phacomatosis pigmentokeratotica: A very rare twin spotting phenomenon. 61
28799528 2018
13
HRAS mutation in phacomatosis pigmentokeratotica without extracutaneous disease. 61
28736904 2017
14
Phacomatosis Pigmentokeratotica: A Mosaic RASopathy with Malignant Potential. 61
28523882 2017
15
Phacomatosis pigmentokeratotica or the Schimmelpenning-Feuerstein-Mims syndrome? 61
27398198 2016
16
Atypical Phacomatosis Pigmentokeratotica as the Expression of a Mosaic RASopathy With the BRAF-Glu586Lys Mutation. 61
26703821 2016
17
Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia. 61
26829038 2016
18
Epidermal nevus syndromes. 61
26564089 2015
19
Apocrine intraductal carcinoma in situ in nevus sebaceus: two case reports. 61
25302933 2014
20
Combined melanocytic and sweat gland neoplasm: cell subsets harbor an identical HRAS mutation in phacomatosis pigmentokeratotica. 61
24628623 2014
21
Phacomatosis pigmentokeratotica: a follow-up report with fatal outcome. 61
24337020 2014
22
Photoletter to the editor: A neurocutaneous rarity: phacomatosis pigmentokeratotica. 61
25024780 2014
23
An atypical variant of phacomatosis pigmentokeratotica: verrucous epidermal nevus, speckled lentiginous nevus, and Spitz nevus associated with scoliosis. 61
24877171 2014
24
Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell. 61
23337891 2013
25
Phacomatosis pigmentokeratotica is a "pseudodidymosis". 61
23856930 2013
26
Phacomatosis pigmento-pigmentaria: should we add a new type of phacomatosis? Fact and controversies. 61
23806163 2013
27
Phacomatosis pigmentokeratotica--a patient with hypophosphatemic rickets. 61
23745233 2013
28
Phacomatosis pigmentokeratotica without extracutaneous abnormalities: a case study involving a preterm baby. 61
23166433 2012
29
Verrucous epidermal naevus and naevus spilus associated with lower limb asymmetry and right bundle-branch block: a case of phacomatosis pigmentokeratotica? 61
21790731 2012
30
Phacomatosis pigmentokeratotica: a further case without extracutaneous anomalies and review of the condition. 61
22082467 2011
31
A case of phacomatosis pigmentokeratotica in Japanese monozygotic twins. 61
21597669 2011
32
Phacomatosis pigmentokeratotica associated with compound melanocytic nevus of the conjunctiva. 61
21781076 2011
33
Phacomatosis pigmento-pigmentaria: aberrant dermal melanocytosis and nevus spilus. 61
21906489 2011
34
Variant of phacomatosis pigmentokeratotica. 61
21352309 2011
35
Widespread nevus spilus associated with torsion dystonia: a case report. 61
21510006 2010
36
The group of epidermal nevus syndromes Part I. Well defined phenotypes. 61
20542174 2010
37
Phacomatosis pigmentokeratotica with nephroblastoma and juvenile hypertension. 61
20526546 2010
38
Speckled lentiginous nevus syndrome associated with musculoskeletal abnormalities. 61
19706091 2009
39
Phacomatosis pigmentopigmentalis: aberrant Mongolian spots and segmental café au lait macules. 61
19419484 2009
40
Speckled lentiginous naevus: which of the two disorders do you mean? 61
19040513 2009
41
Phacomatosis pigmentokeratotica without extracutaneous abnormailities. 61
18474489 2008
42
Phacomatosis pigmentokeratotica: a follow-up report documenting additional cutaneous and extracutaneous anomalies. 61
18304160 2008
43
Epidermal nevus syndromes. 61
18395670 2007
44
Phacomatosis pigmentokeratotica associated with a suprasellar dermoid cyst and leg hypertrophy. 61
17868392 2007
45
[Multiple basal cell carcinomas on phacomatosis pigmentokeratotica]. 61
17067530 2006
46
Phacomatosis pigmentokeratotica associated with hemihypertrophy and a rhabdomyosarcoma of the abdominal wall. 61
16843117 2006
47
Phacomatosis pigmentokeratotica associated with hypophosphataemic rickets, pheochromocytoma and multiple basal cell carcinomas. 61
16792789 2006
48
Two distinct types of speckled lentiginous nevi characterized by macular versus papular speckles. 61
16319475 2006
49
Phacomatosis pigmentokeratotica: a 20-year follow-up with malignant degeneration of both nevus components. 61
15660897 2005
50
Epidermal nevus syndromes: clinical findings in 35 patients. 61
15283784 2004

Variations for Phakomatosis Pigmentokeratotica

Expression for Phakomatosis Pigmentokeratotica

Search GEO for disease gene expression data for Phakomatosis Pigmentokeratotica.

Pathways for Phakomatosis Pigmentokeratotica

GO Terms for Phakomatosis Pigmentokeratotica

Sources for Phakomatosis Pigmentokeratotica

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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