PPKCA2
MCID: PLM149
MIFTS: 35

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
Cataract-Alopecia-Sclerodactyly Syndrome 57 12 59 72
Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia 12 53 59
Cass 57 12 53
Autosomal Recessive Palmoplantar Hyperkeratosis and Congenital Alopecia 12 59
Palmoplantar Keratoderma and Congenital Alopecia, Wallis Type 12 59
Cataract, Alopecia, Sclerodactyly 53 44
Ppk-Ca, Wallis Type 12 59
Ppkca2 57 12
Cataract-Alopecia-Sclerodactyly Syndrome; Cass 57
Cataract, Alopecia, Sclerodactyly Syndrome 53
Ppkca, Wallis Type 57
Ppkca Wallis Type 12
Cas 75

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive palmoplantar keratoderma and congenital alopecia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
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:

32
palmoplantar keratoderma and congenital alopecia 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111245
OMIM 57 212360
MeSH 44 C535336
MESH via Orphanet 45 C535336
ICD10 via Orphanet 34 Q82.8 Q84.0
UMLS via Orphanet 73 C1859316
Orphanet 59 ORPHA1366
MedGen 42 C1859316
UMLS 72 C1859316

Summaries for Palmoplantar Keratoderma and Congenital Alopecia 2

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1366DefinitionAutosomal 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 : 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 The drugs Vaccines and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include skin, heart 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 : 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)

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 1490)
# 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 11.3
16 bone cancer 11.3
17 ascending colon cancer 11.3
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 galloway-mowat syndrome 11.2
24 carbonic anhydrase va deficiency, hyperammonemia due to 11.0
25 gastric fundus cancer 11.0
26 pylorus cancer 11.0
27 cardia cancer 11.0
28 descending colon cancer 11.0
29 splenic flexure cancer 11.0
30 intrahepatic gall duct cancer 11.0
31 vulva cancer 11.0
32 spermatic cord cancer 11.0
33 supraglottis cancer 11.0
34 clitoris cancer 11.0
35 hepatic flexure cancer 11.0
36 transverse colon cancer 11.0
37 main bronchus cancer 11.0
38 scrotum neoplasm 11.0
39 urethra cancer 11.0
40 bladder carcinoma in situ 11.0
41 cold agglutinin disease 11.0
42 alzheimer disease 10.7
43 hyperlipoproteinemia, type iii 10.7
44 coronary artery anomaly 10.7
45 arteries, anomalies of 10.6
46 colorectal adenoma 10.6
47 chromophobe renal cell carcinoma 10.6
48 pertussis 10.6
49 adenocarcinoma 10.5
50 breast cancer 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:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
2 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
3 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
4 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001482
5 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
6 nail dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008404
7 lack of skin elasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0100679
8 atypical scarring of skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000987
9 aplasia/hypoplasia of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008065
10 alopecia totalis 59 32 hallmark (90%) Very frequent (99-80%) HP:0007418
11 hyperkeratosis 32 HP:0000962
12 dry skin 32 HP:0000958
13 nail dysplasia 32 HP:0002164
14 camptodactyly of finger 32 HP:0100490
15 amniotic constriction ring 32 HP:0009775
16 palmoplantar hyperkeratosis 32 HP:0000972
17 facial erythema 32 HP:0001041
18 sclerodactyly 32 HP:0011838
19 keratosis pilaris 32 HP:0032152
20 developmental cataract 32 HP:0000519

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
dry skin
keratosis pilaris
palmoplantar keratosis
spiny follicular plugging

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

Head And Neck Eyes:
congenital cataracts (1 family)

Head And Neck Face:
facial erythema
ulerythema ophryogenes

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

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
2 Immunologic Factors

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 Development of a Computer Assisted Survivor Screening For Adult Survivors of Childhood Cancer Completed NCT00579293
7 Systems Biology Approach to Cognitive Impairment After SepsiS (CASS) Completed NCT03015584
8 Silent Cerebral Ischemia After Cervico-Cranial Angioplasty Detected by Diffusion-Weighted MRI Completed NCT00015717
9 A Randomized Controlled Trial of the Accuracy of Maxillary Repositioning Using Personalized Titanium Plates vs CAD/CAM Surgical Splints in Orthognathic Surgery Completed NCT02914431
10 Pilot Trial of Tubes to Prevent Ventilator-Associated Pneumonia (PreVent) Completed NCT01744483
11 Morphometrics and Morphokinetics of Thawed Oocytes and Embryos Completed NCT02639715
12 The Application and Clinical Accuracy of Patient-specific Implants in Genioplasty Recruiting NCT03456869
13 Osteoporosis in Egypt: Screening Tools' Re-validation and a Local Guide for the Management of the Condition in Males Recruiting NCT03513107
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 Recruiting NCT03168945
15 Exercise and Its Cardiovascular Effects in Patients of Parkinson's Disease With Cardiovascular Autonomic Dysfunction Recruiting NCT03343574
16 Randomized Trial of Endotracheal Tubes to Prevent Ventilator-Associated Pneumonia - PreVent 2 Study Active, not recruiting NCT03705286
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:

41
Skin, Heart, Bone, Eye

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. 8
20635335 2010
2
Keratoma hereditaria mutilans (Vohwinkel's disease) with congenital alopecia universalis (atrichia congenita). 8
2529287 1989
3
Cataracts, alopecia, and sclerodactyly: a previously apparently undescribed ectodermal dysplasia syndrome on the island of Rodrigues. 8
2773993 1989
4
Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2. 38
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

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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