MCID: PLM173
MIFTS: 22

Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal

Categories: Genetic diseases, Reproductive diseases, Skin diseases, Endocrine diseases, Fetal diseases, Rare diseases, Cancer diseases

Aliases & Classifications for Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin...

MalaCards integrated aliases for Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal:

Name: Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 57 29 6
Palmoplantar Hyperkeratosis and True Hermaphroditism 57 29 13 6
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 57 75
Palmoplantar Hyperkeratosis-Xx Sex Reversal-Predisposition to Squamous Cell Carcinoma Syndrome 59
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition to Squamous Cell Carcinoma Syndrome 59
Keratoderma, Palmoplantar, with Squamous Cell Carcinoma of Skin and Sex Reversal 75
Pkkscc 75

Characteristics:

Orphanet epidemiological data:

59
palmoplantar keratoderma-xx sex reversal-predisposition to squamous cell carcinoma syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
one consanguineous italian family and 1 unrelated patient have been reported (last curated november 2016)


HPO:

32
palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin...

UniProtKB/Swiss-Prot : 75 Keratoderma, palmoplantar, with squamous cell carcinoma of skin and sex reversal: A recessive syndrome characterized by XX (female to male) SRY- independent sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin.

MalaCards based summary : Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal, is also known as palmoplantar hyperkeratosis and true hermaphroditism. An important gene associated with Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal is RSPO1 (R-Spondin 1). Affiliated tissues include skin, and related phenotypes are palmoplantar keratoderma and sex reversal

Description from OMIM: 610644

Related Diseases for Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin...

Symptoms & Phenotypes for Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin...

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
hypertriglyceridemia
hypercholesterolemia

Neoplasia:
laryngeal carcinoma
multiple squamous cell carcinomas in areas of hyperkeratotic skin
pulmonary metastases of squamous cell carcinoma

Genitourinary External Genitalia Female:
clitoral enlargement
ambiguous external genitalia

Chest Breasts:
gynecomastia (in 46,xx males)

GenitourinaryInternal GenitaliaMale:
testicular hypoplasia (in 46,xx males)
nodular hyperplasia of leydig cells (in 46,xx males)
seminoma (right groin mass in 46,xx female)

Skin Nails Hair Skin Histology:
orthokeratotic hyperkeratosis
moderately differentiated squamous cell carcinoma

Skin Nails Hair Skin:
palmoplantar keratoderma
sclerodactyly
hyperhidrosis of palms and soles
squamous cell carcinomas in areas of hyperkeratosis

Skin Nails Hair Nails:
dystrophic nails
nail hypoplasia
longitudinal ridging of nails

Head And Neck Teeth:
chronic periodontal disease
premature loss of permanent teeth

Genitourinary External Genitalia Male:
severe hypogenitalism (in 46,xx males)
hypospadias (in 46,xx males)

Genitourinary Internal Genitalia Female:
ovotestis (in 46,xx female)
seminiferous tubules surrounded by ovarian-type stroma (in 46,xx female)
seminoma infiltrating stroma (in 46,xx female)

Endocrine Features:
hypogenitalism (in 46,xx males)
low plasma testosterone levels (in 46,xx males)
high plasma follicle-stimulating hormone (fsh) levels (in 46,xx males)


Clinical features from OMIM:

610644

Human phenotypes related to Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
2 sex reversal 59 32 hallmark (90%) Very frequent (99-80%) HP:0012245
3 squamous cell carcinoma of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0006739
4 hypertriglyceridemia 32 HP:0002155
5 nail dystrophy 32 HP:0008404
6 hypospadias 32 HP:0000047
7 small nail 32 HP:0001792
8 decreased testicular size 32 HP:0008734
9 hypercholesterolemia 32 HP:0003124
10 gynecomastia 32 HP:0000771
11 laryngeal carcinoma 32 HP:0012118
12 ovotestis 32 HP:0012861
13 clitoral hypertrophy 32 HP:0008665
14 palmoplantar hyperhidrosis 32 HP:0007410
15 sclerodactyly 32 HP:0011838
16 premature loss of permanent teeth 32 HP:0006357
17 orthokeratotic hyperkeratosis 32 HP:0025080

Drugs & Therapeutics for Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin...

Search Clinical Trials , NIH Clinical Center for Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal

Genetic Tests for Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin...

Genetic tests related to Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal:

# Genetic test Affiliating Genes
1 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 29 RSPO1
2 Palmoplantar Hyperkeratosis and True Hermaphroditism 29

Anatomical Context for Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin...

MalaCards organs/tissues related to Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal:

41
Skin

Publications for Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin...

Variations for Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin...

ClinVar genetic disease variations for Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RSPO1 RSPO1, 1-BP INS, 896G insertion Pathogenic
2 RSPO1 RSPO1, EX4 DEL deletion Pathogenic
3 RSPO1 RSPO1, IVS5DS, G-A, +1 single nucleotide variant Pathogenic

Cosmic variations for Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal:

9
(show top 50) (show all 6898)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM4990875 ZNF668 skin,NS,carcinoma,squamous cell carcinoma c.247C>T p.P83S 16:31064213-31064213 19
2 COSM703213 ZNF668 skin,NS,carcinoma,squamous cell carcinoma c.1817C>T p.P606L 16:31061111-31061111 19
3 COSM4990873 ZNF668 skin,NS,carcinoma,squamous cell carcinoma c.878C>T p.S293L 16:31062050-31062050 19
4 COSM4990309 ZMYM2 skin,NS,carcinoma,squamous cell carcinoma c.946C>T p.Q316* 13:20002948-20002948 19
5 COSM4990310 ZMYM2 skin,NS,carcinoma,squamous cell carcinoma c.946C>T p.Q316* 13:20002948-20002948 19
6 COSM4991869 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.282C>G p.A94A 3:147396258-147396258 19
7 COSM4991865 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.522C>T p.F174F 3:147396018-147396018 19
8 COSM4991861 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.876G>C p.P292P 3:147391059-147391059 19
9 COSM4991863 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.569A>C p.K190T 3:147395971-147395971 19
10 COSM4991867 ZIC4 skin,NS,carcinoma,squamous cell carcinoma c.314T>G p.V105G 3:147396226-147396226 19
11 COSM4990301 ZIC2 skin,NS,carcinoma,squamous cell carcinoma c.915G>A p.E305E 13:99982979-99982979 19
12 COSM3184673 ZFP36L2 skin,NS,carcinoma,squamous cell carcinoma c.569C>T p.P190L 2:43225235-43225235 19
13 COSM3184669 ZFP36L2 skin,NS,carcinoma,squamous cell carcinoma c.596C>T p.T199I 2:43225208-43225208 19
14 COSM6963526 ZFHX3 skin,NS,carcinoma,squamous cell carcinoma c.1646C>T p.S549F 16:72958500-72958500 19
15 COSM6974401 ZFHX3 skin,NS,carcinoma,squamous cell carcinoma c.2933C>T p.A978V 16:72950752-72950752 19
16 COSM6934239 ZFHX3 skin,NS,carcinoma,squamous cell carcinoma c.10688G>A p.R3563K 16:72787588-72787588 19
17 COSM6934240 ZFHX3 skin,NS,carcinoma,squamous cell carcinoma c.727G>A p.D243N 16:72959419-72959419 19
18 COSM6926616 ZFHX3 skin,NS,carcinoma,squamous cell carcinoma c.10999G>A p.D3667N 16:72787277-72787277 19
19 COSM6944080 ZFHX3 skin,NS,carcinoma,squamous cell carcinoma c.1138C>T p.P380S 16:72959008-72959008 19
20 COSM6926265 ZFHX3 skin,NS,carcinoma,squamous cell carcinoma c.10577G>A p.G3526D 16:72787699-72787699 19
21 COSM6944931 ZFHX3 skin,NS,carcinoma,squamous cell carcinoma c.7759C>T p.Q2587* 16:72794923-72794923 19
22 COSM4991542 ZBED4 skin,NS,carcinoma,squamous cell carcinoma c.328C>T p.R110W 22:49883990-49883990 19
23 COSM4993525 ZBED1 skin,NS,carcinoma,squamous cell carcinoma c.601T>G p.W201G 23:2490119-2490119 19
24 COSM6932261 YES1 skin,NS,carcinoma,squamous cell carcinoma c.373G>A p.E125K 18:748017-748017 19
25 COSM228200 YES1 skin,NS,carcinoma,squamous cell carcinoma c.1499C>T p.S500F 18:724557-724557 19
26 COSM6982918 YES1 skin,NS,carcinoma,squamous cell carcinoma c.851G>A p.G284E 18:743289-743289 19
27 COSM6932242 YAP1 skin,NS,carcinoma,squamous cell carcinoma c.938C>T p.S313F 11:102223689-102223689 19
28 COSM4991780 XPO1 skin,NS,carcinoma,squamous cell carcinoma c.2285G>A p.W762* 2:61488193-61488193 19
29 COSM4829120 XPC skin,NS,carcinoma,squamous cell carcinoma c.1439C>T p.S480F 3:14158444-14158444 19
30 COSM4991848 XPC skin,NS,carcinoma,squamous cell carcinoma c.2255C>T p.P752L 3:14148727-14148727 19
31 COSM4991849 XPC skin,NS,carcinoma,squamous cell carcinoma c.2254C>T p.P752S 3:14148728-14148728 19
32 COSM4991847 XPC skin,NS,carcinoma,squamous cell carcinoma c.2445G>A p.E815E 3:14147977-14147977 19
33 COSM4991846 XPC skin,NS,carcinoma,squamous cell carcinoma c.2446G>A p.E816K 3:14147976-14147976 19
34 COSM28974 WT1 skin,NS,carcinoma,squamous cell carcinoma c.935G>A p.R312Q 11:32396367-32396367 19
35 COSM6884834 WT1 skin,NS,carcinoma,squamous cell carcinoma c.964C>T p.P322S 11:32396338-32396338 19
36 COSM4990181 WT1 skin,NS,carcinoma,squamous cell carcinoma c.726C>A p.N242K 11:32417597-32417597 19
37 COSM6939000 WT1 skin,NS,carcinoma,squamous cell carcinoma c.1046-1G>T p.? 11:32392756-32392756 19
38 COSM6917498 WT1 skin,NS,carcinoma,squamous cell carcinoma c.1034G>A p.R345K 11:32396268-32396268 19
39 COSM4990704 VTI1B skin,NS,carcinoma,squamous cell carcinoma c.274C>T p.H92Y 14:67659823-67659823 19
40 COSM6909326 VTCN1 skin,NS,carcinoma,squamous cell carcinoma c.137G>A p.G46E 1:117156882-117156882 19
41 COSM6909324 VTCN1 skin,NS,carcinoma,squamous cell carcinoma c.610G>A p.E204K 1:117153205-117153205 19
42 COSM6972902 VTCN1 skin,NS,carcinoma,squamous cell carcinoma c.134C>T p.A45V 1:117156885-117156885 19
43 COSM6912242 VTCN1 skin,NS,carcinoma,squamous cell carcinoma c.628G>A p.V210I 1:117153187-117153187 19
44 COSM6967157 VTCN1 skin,NS,carcinoma,squamous cell carcinoma c.236T>A p.L79* 1:117156783-117156783 19
45 COSM14356 VHL skin,NS,carcinoma,squamous cell carcinoma c.394C>T p.Q132* 3:10146567-10146567 19
46 COSM30228 VHL skin,NS,carcinoma,squamous cell carcinoma c.337C>T p.R113* 3:10142184-10142184 19
47 COSM6937204 VEGFA skin,NS,carcinoma,squamous cell carcinoma c.701C>T p.P234L 6:43777511-43777511 19
48 COSM4991824 UMPS skin,NS,carcinoma,squamous cell carcinoma c.332G>A p.G111E 3:124737589-124737589 19
49 COSM4991823 UMPS skin,NS,carcinoma,squamous cell carcinoma c.331G>A p.G111R 3:124737588-124737588 19
50 COSM4991826 UMPS skin,NS,carcinoma,squamous cell carcinoma c.843G>A p.K281K 3:124738100-124738100 19

Expression for Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin...

Search GEO for disease gene expression data for Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal.

Pathways for Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin...

GO Terms for Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin...

Sources for Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin...

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