MCID: HRZ001
MIFTS: 23

Huriez Syndrome

Categories: Skin diseases, Rare diseases

Aliases & Classifications for Huriez Syndrome

MalaCards integrated aliases for Huriez Syndrome:

Name: Huriez Syndrome 57 59
Sclerotylosis 57 76 59 13
Palmoplantar Hyperkeratosis-Sclerodactyly Syndrome 59
Keratoderma with Scleroatrophy of the Extremities 73
Scleroatrophic and Keratotic Dermatosis of Limbs 57
Palmoplantar Keratoderma-Sclerodactyly Syndrome 59
Scleroatrophic Syndrome 59
Hrz 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant (4q28-q31)


HPO:

32
huriez syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 181600
Orphanet 59 ORPHA384
ICD10 via Orphanet 34 Q82.8
UMLS via Orphanet 74 C0406767
MedGen 42 C0406767
UMLS 73 C0406767

Summaries for Huriez Syndrome

MalaCards based summary : Huriez Syndrome, also known as sclerotylosis, is related to palmoplantar keratoderma-sclerodactyly syndrome and squamous cell carcinoma. An important gene associated with Huriez Syndrome is TYS (Sclerotylosis). Affiliated tissues include skin, and related phenotypes are small nail and dry skin

Wikipedia : 76 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

Description from OMIM: 181600

Related Diseases for Huriez Syndrome

Diseases related to Huriez Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma-sclerodactyly syndrome 11.3
2 squamous cell carcinoma 10.1
3 palmoplantar keratosis 9.9

Symptoms & Phenotypes for Huriez Syndrome

Symptoms via clinical synopsis from OMIM:

57
Skin:
congenital palmoplantar keratodermia
atrophic fibrosis of limb skin

Oncology:
frequent skin and bowel cancer

Nails:
nail hypoplasia


Clinical features from OMIM:

181600

Human phenotypes related to Huriez Syndrome:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 small nail 59 32 Very frequent (99-80%) HP:0001792
2 dry skin 59 Very frequent (99-80%)
3 palmoplantar keratoderma 59 Very frequent (99-80%)
4 abnormality of the nail 59 Very frequent (99-80%)
5 aplasia/hypoplasia of the skin 59 Very frequent (99-80%)
6 sclerodactyly 59 Very frequent (99-80%)
7 lack of skin elasticity 59 Very frequent (99-80%)
8 neoplasm 32 HP:0002664
9 congenital palmoplantar keratodermia 32 HP:0007597

Drugs & Therapeutics for Huriez Syndrome

Search Clinical Trials , NIH Clinical Center for Huriez Syndrome

Genetic Tests for Huriez Syndrome

Anatomical Context for Huriez Syndrome

MalaCards organs/tissues related to Huriez Syndrome:

41
Skin

Publications for Huriez Syndrome

Articles related to Huriez Syndrome:

(show all 13)
# Title Authors Year
1
A Rare Syndrome Resembling Scleroderma: Huriez Syndrome. ( 29765964 )
2018
2
SMARCAD1 haploinsufficiency underlies Huriez Syndrome and associated skin cancer susceptibility. ( 29409814 )
2018
3
Huriez syndrome with superadded dermatophyte infection. ( 27559505 )
2016
4
Poikiloderma a varied presentation - Huriez syndrome. ( 25657913 )
2015
5
Huriez syndrome with squamous cell carcinoma. ( 21382785 )
2011
6
Huriez syndrome. ( 18797084 )
2008
7
Huriez syndrome: association with squamous cell carcinoma and a surgical approach. ( 16079734 )
2005
8
A nonfamilial Japanese case of Huriez syndrome: p53 expression in squamous cell carcinoma. ( 12835558 )
2003
9
Huriez syndrome: case report with a detailed analysis of skin dendritic cells. ( 11069529 )
2000
10
An SRY-negative XX male with Huriez syndrome. ( 10733237 )
2000
11
A gene for an autosomal dominant scleroatrophic syndrome predisposing to skin cancer (Huriez syndrome) maps to chromosome 4q23. ( 10631162 )
2000
12
Keratoderma with scleroatrophy of the extremities or sclerotylosis (Huriez syndrome): a reappraisal. ( 8546996 )
1995
13
Palmoplantar keratoderma with sclerodactyly (Huriez syndrome). ( 1613149 )
1992

Variations for Huriez Syndrome

Expression for Huriez Syndrome

Search GEO for disease gene expression data for Huriez Syndrome.

Pathways for Huriez Syndrome

GO Terms for Huriez Syndrome

Sources for Huriez Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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