PPKCA2
MCID: PLM149
MIFTS: 44

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 56 12 15
Cataract-Alopecia-Sclerodactyly Syndrome 56 12 58 71
Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia 12 52 58
Cass 56 12 52
Autosomal Recessive Palmoplantar Hyperkeratosis and Congenital Alopecia 12 58
Palmoplantar Keratoderma and Congenital Alopecia, Wallis Type 12 58
Cataract, Alopecia, Sclerodactyly 52 43
Ppk-Ca, Wallis Type 12 58
Ppkca2 56 12
Cataract-Alopecia-Sclerodactyly Syndrome; Cass 56
Cataract, Alopecia, Sclerodactyly Syndrome 52
Ppkca, Wallis Type 56
Ppkca Wallis Type 12
Cas 74

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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 56 212360
MeSH 43 C535336
MESH via Orphanet 44 C535336
ICD10 via Orphanet 33 Q82.8 Q84.0
UMLS via Orphanet 72 C1859316
Orphanet 58 ORPHA1366
MedGen 41 C1859316
UMLS 71 C1859316

Summaries for Palmoplantar Keratoderma and Congenital Alopecia 2

NIH Rare Diseases : 52 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. Visit the Orphanet disease page for more resources.

MalaCards based summary : Palmoplantar Keratoderma and Congenital Alopecia 2, also known as cataract-alopecia-sclerodactyly syndrome, is related to bile duct cancer and pancreatic cancer, and has symptoms including dry skin An important gene associated with Palmoplantar Keratoderma and Congenital Alopecia 2 is DCAF8 (DDB1 And CUL4 Associated Factor 8), and among its related pathways/superpathways are Terpenoid backbone biosynthesis and cholesterol biosynthesis III (via desmosterol). The drug Vaccines has been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, 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 : 56 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)

Related Diseases for Palmoplantar Keratoderma and Congenital Alopecia 2

Diseases in the Palmoplantar Keratoderma and Congenital Alopecia 2 family:

Palmoplantar Keratoderma and Congenital Alopecia 1

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

(show top 50) (show all 1495)
# Related Disease Score Top Affiliating Genes
1 bile duct cancer 11.9
2 pancreatic cancer 11.7
3 scott syndrome 11.6
4 gastric cancer 11.6
5 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.5
6 esophageal cancer 11.5
7 childhood apraxia of speech 11.5
8 brody myopathy 11.5
9 liver angiosarcoma 11.5
10 endometrial cancer 11.4
11 hepatocellular carcinoma 11.4
12 gallbladder cancer 11.4
13 cervix uteri carcinoma in situ 11.4
14 skin carcinoma 11.4
15 fallopian tube carcinoma 11.4
16 bone cancer 11.4
17 ascending colon cancer 11.4
18 hypomagnesemia 3, renal 11.3
19 carbonic anhydrase va deficiency 11.3
20 palmoplantar keratoderma and congenital alopecia 1 11.3
21 penile cancer 11.2
22 brachyolmia type 3 11.2
23 carbonic anhydrase va deficiency, hyperammonemia due to 11.0
24 gastric fundus cancer 11.0
25 pylorus cancer 11.0
26 cardia cancer 11.0
27 descending colon cancer 11.0
28 splenic flexure cancer 11.0
29 intrahepatic gall duct cancer 11.0
30 vulva cancer 11.0
31 spermatic cord cancer 11.0
32 supraglottis cancer 11.0
33 clitoris cancer 11.0
34 hepatic flexure cancer 11.0
35 transverse colon cancer 11.0
36 main bronchus cancer 11.0
37 scrotum neoplasm 11.0
38 urethra cancer 11.0
39 bladder carcinoma in situ 11.0
40 cold agglutinin disease 11.0
41 neuroblastoma 11.0
42 alzheimer disease 10.7
43 hyperlipoproteinemia, type iii 10.7
44 lipoprotein quantitative trait locus 10.7
45 colorectal adenoma 10.6
46 chromophobe renal cell carcinoma 10.6
47 pertussis 10.6
48 adenocarcinoma 10.5
49 breast cancer 10.5
50 angina pectoris 10.5

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 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
5 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
6 lack of skin elasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0100679
7 atypical scarring of skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000987
8 aplasia/hypoplasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008065
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 dry skin 31 HP:0000958
12 hyperkeratosis 31 HP:0000962
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:

56
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

UMLS symptoms related to Palmoplantar Keratoderma and Congenital Alopecia 2:


dry skin

GenomeRNAi Phenotypes related to Palmoplantar Keratoderma and Congenital Alopecia 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.47 GRK5
2 Decreased viability GR00221-A-2 9.47 GRK5
3 Decreased viability GR00221-A-3 9.47 GRK5
4 Decreased viability GR00221-A-4 9.47 GRK5
5 Decreased viability GR00249-S 9.47 LBR LSS
6 Decreased viability GR00381-A-1 9.47 CASS4 LSS PTCRA
7 Decreased viability GR00386-A-1 9.47 LSS PPIC PTCRA
8 Decreased viability GR00402-S-2 9.47 LBR PTCRA

Drugs & Therapeutics for Palmoplantar Keratoderma and Congenital Alopecia 2

Drugs for Palmoplantar Keratoderma and Congenital Alopecia 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Emory Angioplasty Versus Surgery Trial (EAST) Completed NCT00000465 Phase 3
2 Coronary Artery Surgery Study (CASS) Completed NCT00000489 Phase 3
3 Prospective Evaluation Of Biventricular Pacing In Patients With Left Ventricular Dysfunction After Cardiovascular Surgery Completed NCT00321295 Phase 3
4 A Randomized Trial of Closed Loop Stimulation After Epicardial Pacemaker Implantation for Congenital Heart Disease Not yet recruiting NCT03361189 Phase 2, Phase 3
5 Effects of Intracoronary Infusion of Bone Marrow-derived Progenitor Cells on Myocardial Regeneration in Patients With Non-ischemic Dilated Cardiomyopathy. Completed NCT00629096 Phase 2
6 The Application and Clinical Accuracy of Patient-specific Implants in Genioplasty Unknown status NCT03456869
7 Osteoporosis in Egypt: Screening Tools' Re-validation and a Local Guide for the Management of the Condition in Males Unknown status NCT03513107
8 Development of a Computer Assisted Survivor Screening For Adult Survivors of Childhood Cancer Completed NCT00579293
9 Systems Biology Approach to Cognitive Impairment After SepsiS (CASS) Completed NCT03015584
10 Silent Cerebral Ischemia After Cervico-Cranial Angioplasty Detected by Diffusion-Weighted MRI Completed NCT00015717
11 Pilot Trial of Tubes to Prevent Ventilator-Associated Pneumonia (PreVent) Completed NCT01744483
12 A Randomized Controlled Trial of the Accuracy of Maxillary Repositioning Using Personalized Titanium Plates vs CAD/CAM Surgical Splints in Orthognathic Surgery Completed NCT02914431
13 Morphometrics and Morphokinetics of Thawed Oocytes and Embryos Completed NCT02639715
14 Quantifying Infectiousness of Undiagnosed Tuberculosis Cases and the Impact of Enhanced Community-based Active Case Finding Strategy Using Novel Diagnostic Tools: A Randomized Controlled Trial Active, not recruiting NCT03168945
15 Randomized Trial of Endotracheal Tubes to Prevent Ventilator-Associated Pneumonia - PreVent 2 Study Active, not recruiting NCT03705286
16 Exercise and Its Cardiovascular Effects in Patients of Parkinson's Disease With Cardiovascular Autonomic Dysfunction Active, not recruiting NCT03343574
17 High and Low Resource Interventions to Promote HPV Vaccines Enrolling by invitation NCT03824093

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
Skin, Eye, Bone, Heart

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. 56
20635335 2010
2
Keratoma hereditaria mutilans (Vohwinkel's disease) with congenital alopecia universalis (atrichia congenita). 56
2529287 1989
3
Cataracts, alopecia, and sclerodactyly: a previously apparently undescribed ectodermal dysplasia syndrome on the island of Rodrigues. 56
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

Cellular components related to Palmoplantar Keratoderma and Congenital Alopecia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear membrane GO:0031965 8.8 TXLNG LBR GRK5

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

# Name GO ID Score Top Affiliating Genes
1 regulation of cholesterol biosynthetic process GO:0045540 9.26 SQLE LSS
2 sterol biosynthetic process GO:0016126 9.16 SQLE LBR
3 steroid biosynthetic process GO:0006694 9.13 SCP2 LSS LBR
4 cholesterol biosynthetic process GO:0006695 8.8 SQLE LSS LBR

Molecular functions related to Palmoplantar Keratoderma and Congenital Alopecia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 FAD binding GO:0071949 8.62 SQLE LDHD

Sources for Palmoplantar Keratoderma and Congenital Alopecia 2

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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