CASS
MCID: ATS072
MIFTS: 21

Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia (CASS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Autosomal Recessive Palmoplantar Keratoderma and Congenital...

MalaCards integrated aliases for Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia:

Name: Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia 54
Cataract, Alopecia, Sclerodactyly Syndrome 54
Cataract-Alopecia-Sclerodactyly Syndrome 74
Cataract, Alopecia, Sclerodactyly 54
Cass 54

Classifications:



Summaries for Autosomal Recessive Palmoplantar Keratoderma and Congenital...

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1366Disease definitionAutosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.EpidemiologyTo date, autosomal recessive PPK-CA has been reported in two families (seven affected individuals). An additional sporadic patient was likely affected by the same condition.Clinical descriptionSimilarly to the dominant variant, autosomal recessive PPK-CA usually presents during infancy. Its very early onset is often characterized by fading of facial, scalp and body hair within the first months of life without subsequent re-growth. Body and facial keratosis pilaris are additional features which appear in the following years. Skin thickening of palms and soles develops during infancy and may have an unusual pattern affecting the two sides of fingers and palms, but usually sparing the palmar surfaces. Periungueal involvement is typical and leads to secondary nail dystrophy. Autosomal recessive PPK-CA shows a relatively more severe evolution compared to the dominant variant as many patients develop sclerodactyly, small joint contractures and pseudo-ainhum. The original family also had congenital cataract.EtiologyThe genetic basis of autosomal recessive PPK-CA is unknown.Genetic counselingTransmission appears to be autosomal recessive.Visit the Orphanet disease page for more resources.

MalaCards based summary : Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia, also known as cataract, alopecia, sclerodactyly syndrome, is related to palmoplantar keratoderma and congenital alopecia 2 and arteries, anomalies of, and has symptoms including dry skin Affiliated tissues include skin, and related phenotypes are cataract and joint stiffness

Related Diseases for Autosomal Recessive Palmoplantar Keratoderma and Congenital...

Diseases in the Autosomal Dominant Palmoplantar Keratoderma and Congenital Alopecia family:

Palmoplantar Keratoderma and Congenital Alopecia 1 Palmoplantar Keratoderma and Congenital Alopecia 2
Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia

Diseases related to Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma and congenital alopecia 2 11.5
2 arteries, anomalies of 10.2
3 coronary artery anomaly 10.2
4 myocardial infarction 10.2
5 blood group--swann system 10.1
6 angina pectoris 10.1
7 cardiac conduction defect 9.9
8 autism 9.9
9 peripheral vascular disease 9.9
10 fibroma 9.9
11 respiratory failure 9.9
12 carotid stenosis 9.9
13 diarrhea 9.9
14 cholera 9.9
15 vascular disease 9.9
16 thrombophlebitis 9.9
17 coronary artery aneurysm 9.9
18 posterior urethral valves 9.9
19 primary orthostatic tremor 9.9
20 dysautonomia 9.9

Graphical network of the top 20 diseases related to Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia:



Diseases related to Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia

Symptoms & Phenotypes for Autosomal Recessive Palmoplantar Keratoderma and Congenital...

Human phenotypes related to Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 cataract 33 hallmark (90%) HP:0000518
2 joint stiffness 33 hallmark (90%) HP:0001387
3 visual impairment 33 hallmark (90%) HP:0000505
4 subcutaneous nodule 33 hallmark (90%) HP:0001482
5 palmoplantar keratoderma 33 hallmark (90%) HP:0000982
6 nail dystrophy 33 hallmark (90%) HP:0008404
7 lack of skin elasticity 33 hallmark (90%) HP:0100679
8 atypical scarring of skin 33 hallmark (90%) HP:0000987
9 aplasia/hypoplasia of the skin 33 hallmark (90%) HP:0008065
10 alopecia totalis 33 hallmark (90%) HP:0007418

UMLS symptoms related to Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia:


dry skin

Drugs & Therapeutics for Autosomal Recessive Palmoplantar Keratoderma and Congenital...

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia

Genetic Tests for Autosomal Recessive Palmoplantar Keratoderma and Congenital...

Anatomical Context for Autosomal Recessive Palmoplantar Keratoderma and Congenital...

MalaCards organs/tissues related to Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia:

42
Skin

Publications for Autosomal Recessive Palmoplantar Keratoderma and Congenital...

Variations for Autosomal Recessive Palmoplantar Keratoderma and Congenital...

Expression for Autosomal Recessive Palmoplantar Keratoderma and Congenital...

Search GEO for disease gene expression data for Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia.

Pathways for Autosomal Recessive Palmoplantar Keratoderma and Congenital...

GO Terms for Autosomal Recessive Palmoplantar Keratoderma and Congenital...

Sources for Autosomal Recessive Palmoplantar Keratoderma and Congenital...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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