PPKCA2
MCID: PLM149
MIFTS: 37

Palmoplantar Keratoderma and Congenital Alopecia 2 (PPKCA2)

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

Aliases & Classifications for Palmoplantar Keratoderma and Congenital Alopecia 2

MalaCards integrated aliases for Palmoplantar Keratoderma and Congenital Alopecia 2:

Name: Palmoplantar Keratoderma and Congenital Alopecia 2 57 12 15
Cataract-Alopecia-Sclerodactyly Syndrome 57 12 58 70
Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia 12 20 58
Cass 57 12 20
Autosomal Recessive Palmoplantar Hyperkeratosis and Congenital Alopecia 12 58
Palmoplantar Keratoderma and Congenital Alopecia, Wallis Type 12 58
Cataract, Alopecia, Sclerodactyly 20 44
Ppk-Ca, Wallis Type 12 58
Ppkca2 57 12
Cataract-Alopecia-Sclerodactyly Syndrome; Cass 57
Cataract, Alopecia, Sclerodactyly Syndrome 20
Ppkca, Wallis Type 57
Ppkca Wallis Type 12
Cas 73

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive palmoplantar keratoderma and congenital alopecia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
one family and 1 unrelated patient have been reported (last curated january 2011)
onset of alopecia in infancy
skin changes are progressive in childhood
intelligence is normal


HPO:

31
palmoplantar keratoderma and congenital alopecia 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111245
OMIM® 57 212360
MeSH 44 C535336
MESH via Orphanet 45 C535336
ICD10 via Orphanet 33 Q82.8 Q84.0
UMLS via Orphanet 71 C1859316
Orphanet 58 ORPHA1366
MedGen 41 C1859316
UMLS 70 C1859316

Summaries for Palmoplantar Keratoderma and Congenital Alopecia 2

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1366 Definition Autosomal 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. Epidemiology To 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 description Similarly 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. Etiology The genetic basis of autosomal recessive PPK-CA is unknown. Genetic counseling Transmission appears to be autosomal recessive.

MalaCards based summary : Palmoplantar Keratoderma and Congenital Alopecia 2, also known as cataract-alopecia-sclerodactyly syndrome, is related to childhood apraxia of speech and cold agglutinin disease, and has symptoms including dry skin An important gene associated with Palmoplantar Keratoderma and Congenital Alopecia 2 is IFRD2 (Interferon Related Developmental Regulator 2). Affiliated tissues include eye and skin, and related phenotypes are cataract and joint stiffness

Disease Ontology : 12 An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation.

OMIM® : 57 Palmoplantar keratoderma and congenital alopecia-2 (PPKCA2) is an autosomal recessive disorder characterized by congenital alopecia and progressive hyperkeratosis resulting in sclerodactyly, severe contractures and tapering of the digits, and pseudoainhum formation. Nail changes occur in some patients (Castori et al., 2010). Also see PPKCA1 (104100), a less severe, autosomal dominant disorder. (212360) (Updated 05-Apr-2021)

Related Diseases for Palmoplantar Keratoderma and Congenital Alopecia 2

Diseases in the Palmoplantar Keratoderma and Congenital Alopecia 1 family:

Palmoplantar Keratoderma and Congenital Alopecia 2

Diseases related to Palmoplantar Keratoderma and Congenital Alopecia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 493)
# Related Disease Score Top Affiliating Genes
1 childhood apraxia of speech 11.4
2 cold agglutinin disease 11.0
3 palmoplantar keratoderma and congenital alopecia 1 10.9
4 adenoma 10.8
5 hepatocellular adenoma 10.6
6 keratosis 10.5
7 48,xyyy 10.5
8 lipoprotein quantitative trait locus 10.5
9 47,xyy 10.5
10 squamous cell papilloma 10.5
11 papilloma 10.5
12 arteries, anomalies of 10.4
13 tremor 10.3
14 angina pectoris 10.3
15 breast fibroadenoma 10.3
16 adenocarcinoma 10.3
17 ataxia and polyneuropathy, adult-onset 10.3
18 cholangiocarcinoma 10.3
19 intrahepatic cholangiocarcinoma 10.3
20 pheochromocytoma 10.2
21 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
22 adrenal gland pheochromocytoma 10.2
23 coronary stenosis 10.2
24 hepatoblastoma 10.2
25 angiosarcoma 10.2
26 hemangioma 10.2
27 methemoglobinemia 10.2
28 hemosiderosis 10.2
29 hyperparathyroidism 10.1
30 benign mesothelioma 10.1
31 lung benign neoplasm 10.1
32 mycobacterium tuberculosis 1 10.1
33 apraxia 10.1
34 malignant pheochromocytoma 10.1
35 transient cerebral ischemia 10.1
36 cataract 10.1
37 posttransplant acute limbic encephalitis 10.1
38 mitral valve insufficiency 10.0
39 intermediate coronary syndrome 10.0
40 acute myocardial infarction 10.0
41 mesothelioma, malignant 10.0
42 bile duct cysts 10.0
43 helix syndrome 10.0
44 urinary tract infection 10.0
45 rapidly involuting congenital hemangioma 10.0
46 secondary hyperparathyroidism 10.0
47 acquired immunodeficiency syndrome 10.0
48 splenomegaly 10.0
49 histiocytic sarcoma 10.0
50 glioma susceptibility 1 10.0

Graphical network of the top 20 diseases related to Palmoplantar Keratoderma and Congenital Alopecia 2:



Diseases related to Palmoplantar Keratoderma and Congenital Alopecia 2

Symptoms & Phenotypes for Palmoplantar Keratoderma and Congenital Alopecia 2

Human phenotypes related to Palmoplantar Keratoderma and Congenital Alopecia 2:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
4 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
5 atypical scarring of skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000987
6 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
7 aplasia/hypoplasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008065
8 lack of skin elasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0100679
9 nail dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008404
10 alopecia totalis 58 31 hallmark (90%) Very frequent (99-80%) HP:0007418
11 hyperkeratosis 31 HP:0000962
12 dry skin 31 HP:0000958
13 camptodactyly of finger 31 HP:0100490
14 nail dysplasia 31 HP:0002164
15 palmoplantar hyperkeratosis 31 HP:0000972
16 amniotic constriction ring 31 HP:0009775
17 developmental cataract 31 HP:0000519
18 sclerodactyly 31 HP:0011838
19 facial erythema 31 HP:0001041
20 keratosis pilaris 31 HP:0032152

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin:
dry skin
keratosis pilaris
palmoplantar keratosis
spiny follicular plugging

Head And Neck Face:
facial erythema
ulerythema ophryogenes

Head And Neck Eyes:
congenital cataracts (1 family)

Skeletal Hands:
sclerodactyly
contractures of the digits due to skin tightening
pseudoainhum formation
tapering of the fingers

Skin Nails Hair Nails:
dystrophic nails

Skin Nails Hair Hair:
alopecia, congenital, total

Clinical features from OMIM®:

212360 (Updated 05-Apr-2021)

UMLS symptoms related to Palmoplantar Keratoderma and Congenital Alopecia 2:


dry skin

Drugs & Therapeutics for Palmoplantar Keratoderma and Congenital Alopecia 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Coronary Artery Surgery Study (CASS) Completed NCT00000489 Phase 3
2 Osteoporosis in Egypt: Screening Tools' Re-validation and a Local Guide for the Management of the Condition in Males Unknown status NCT03513107
3 Systems Biology Approach to Cognitive Impairment After SepsiS (CASS) Completed NCT03015584
4 Cardiac Amyloidosis in Spinal Stenosis: the CASS-study Not yet recruiting NCT04653675

Search NIH Clinical Center for Palmoplantar Keratoderma and Congenital Alopecia 2

Cochrane evidence based reviews: cataract, alopecia, sclerodactyly

Genetic Tests for Palmoplantar Keratoderma and Congenital Alopecia 2

Anatomical Context for Palmoplantar Keratoderma and Congenital Alopecia 2

MalaCards organs/tissues related to Palmoplantar Keratoderma and Congenital Alopecia 2:

40
Eye, Skin

Publications for Palmoplantar Keratoderma and Congenital Alopecia 2

Articles related to Palmoplantar Keratoderma and Congenital Alopecia 2:

# Title Authors PMID Year
1
Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome. 57
20635335 2010
2
Keratoma hereditaria mutilans (Vohwinkel's disease) with congenital alopecia universalis (atrichia congenita). 57
2529287 1989
3
Cataracts, alopecia, and sclerodactyly: a previously apparently undescribed ectodermal dysplasia syndrome on the island of Rodrigues. 57
2773993 1989
4
Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2. 61
27339777 2016

Variations for Palmoplantar Keratoderma and Congenital Alopecia 2

Expression for Palmoplantar Keratoderma and Congenital Alopecia 2

Search GEO for disease gene expression data for Palmoplantar Keratoderma and Congenital Alopecia 2.

Pathways for Palmoplantar Keratoderma and Congenital Alopecia 2

GO Terms for Palmoplantar Keratoderma and Congenital Alopecia 2

Biological processes related to Palmoplantar Keratoderma and Congenital Alopecia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 steroid biosynthetic process GO:0006694 8.96 SCP2 LSS
2 positive regulation of ATPase activity GO:0032781 8.62 CASR AHSA2P

Sources for Palmoplantar Keratoderma and Congenital Alopecia 2

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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