MCID: PRN056
MIFTS: 17

Parana Hard-Skin Syndrome

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Parana Hard-Skin Syndrome

MalaCards integrated aliases for Parana Hard-Skin Syndrome:

Name: Parana Hard-Skin Syndrome 56
Parana Hard Skin Syndrome 52 58 71
Hard Skin Syndrome, Parana Type 58
Hard Skin Syndrome Parana Type 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
parana hard-skin syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 260530
ICD10 via Orphanet 33 L91.8
UMLS via Orphanet 72 C1850079
Orphanet 58 ORPHA2812
MedGen 41 C1850079
UMLS 71 C1850079

Summaries for Parana Hard-Skin Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2812 Definition Parana hard skin syndrome is a rare genetic skin disorder characterized by very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints, and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death. Additional features include severe growth restriction and osteoporosis . There have been no further descriptions in the literature since 1974. Visit the Orphanet disease page for more resources.

MalaCards based summary : Parana Hard-Skin Syndrome, also known as parana hard skin syndrome, is related to restrictive dermopathy, lethal. Affiliated tissues include skin, and related phenotypes are generalized hyperpigmentation and restricted chest movement

More information from OMIM: 260530

Related Diseases for Parana Hard-Skin Syndrome

Diseases related to Parana Hard-Skin Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 restrictive dermopathy, lethal 11.5

Symptoms & Phenotypes for Parana Hard-Skin Syndrome

Human phenotypes related to Parana Hard-Skin Syndrome:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007440
2 restricted chest movement 58 31 hallmark (90%) Very frequent (99-80%) HP:0006596
3 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
4 tapered finger 58 31 frequent (33%) Frequent (79-30%) HP:0001182
5 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
6 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
7 hyperkeratosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000962
8 wide intermamillary distance 58 31 occasional (7.5%) Occasional (29-5%) HP:0006610
9 generalized hirsutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002230
10 round face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000311
11 thickened skin 58 Very frequent (99-80%)
12 growth delay 58 Very frequent (99-80%)
13 severe postnatal growth retardation 31 HP:0008850
14 abnormality of the skin 31 HP:0000951
15 abnormality of abdomen morphology 31 HP:0001438

Symptoms via clinical synopsis from OMIM:

56
Resp:
respiratory insufficiency

Growth:
severe growth retardation

Joints:
freezing of all joints

Misc:
onset age 2 to 3 months

Thorax:
restricted chest movement

Skin:
total skin thickening

Abdomen:
restricted abdominal movement

Clinical features from OMIM:

260530

Drugs & Therapeutics for Parana Hard-Skin Syndrome

Search Clinical Trials , NIH Clinical Center for Parana Hard-Skin Syndrome

Genetic Tests for Parana Hard-Skin Syndrome

Anatomical Context for Parana Hard-Skin Syndrome

MalaCards organs/tissues related to Parana Hard-Skin Syndrome:

40
Skin

Publications for Parana Hard-Skin Syndrome

Articles related to Parana Hard-Skin Syndrome:

# Title Authors PMID Year
1
Letter: Parana hard-skin syndrome: study of seven families. 56 61
4129896 1974
2
Restrictive dermopathy: report and review. 61
9217218 1997

Variations for Parana Hard-Skin Syndrome

Expression for Parana Hard-Skin Syndrome

Search GEO for disease gene expression data for Parana Hard-Skin Syndrome.

Pathways for Parana Hard-Skin Syndrome

GO Terms for Parana Hard-Skin Syndrome

Sources for Parana Hard-Skin Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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