Aliases & Classifications for Pseudoainhum

MalaCards integrated aliases for Pseudoainhum:

Name: Pseudoainhum 53 73

Classifications:



External Ids:

UMLS 73 C0334166

Summaries for Pseudoainhum

MalaCards based summary : Pseudoainhum is related to ainhum and palmoplantar keratosis. An important gene associated with Pseudoainhum is KANK2 (KN Motif And Ankyrin Repeat Domains 2), and among its related pathways/superpathways are Vesicle-mediated transport and G-Beta Gamma Signaling. Affiliated tissues include eye and skin, and related phenotype is no phenotypic analysis.

Related Diseases for Pseudoainhum

Diseases related to Pseudoainhum via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 ainhum 29.2 GJA1 GJB2 LOR
2 palmoplantar keratosis 29.0 GJB2 GJB3 LOR
3 congenital ichthyosiform erythroderma 28.8 GJB4 LOR
4 knuckle pads 26.5 GJA1 GJB2 GJB3 GJB4 GJB6
5 palmoplantar keratoderma and congenital alopecia 2 10.9
6 constricting bands, congenital 10.9
7 vohwinkel syndrome, variant form 10.9
8 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 10.9
9 palmoplantar keratoderma and woolly hair 10.9
10 palmoplantar keratoderma and congenital alopecia 1 10.9
11 ichthyosis 10.1
12 psoriasis 10.1
13 deafness, autosomal recessive 93 10.1 GJB2 GJB3
14 deafness, autosomal recessive 28 10.0 GJB2 GJB3
15 deafness, autosomal dominant 24 10.0 GJB2 GJB6
16 congenital cytomegalovirus 9.9 GJB2 GJB6
17 deafness, x-linked 2 9.9 GJB2 GJB6
18 porokeratosis 9.9
19 deafness, autosomal recessive 67 9.9 GJB2 GJB3
20 dfnb1 9.9 GJB2 GJB6
21 deafness, autosomal recessive 23 9.8 GJB2 GJB6
22 deafness, autosomal dominant 2a 9.8 GJB2 GJB6
23 deafness, autosomal recessive 16 9.8 GJB2 GJB6
24 ischemia 9.7
25 papillon-lefevre syndrome 9.7
26 turner syndrome 9.7
27 mal de meleda 9.7
28 localized scleroderma 9.7
29 reynolds syndrome 9.7
30 linear porokeratosis 9.7
31 linear scleroderma 9.7
32 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
33 erythrokeratodermia variabilis et progressiva 5 9.7
34 breast cancer 9.7
35 limb ischemia 9.7
36 gout 9.7
37 porokeratosis 1, multiple types 9.7
38 tuberous sclerosis 9.7
39 protoporphyria, erythropoietic 9.7
40 scleroderma, familial progressive 9.7
41 tuberous sclerosis 1 9.7
42 epidermolysis bullosa 9.7
43 keratitis, hereditary 9.7 GJB2 GJB6
44 deafness, autosomal dominant 3a 9.7 GJB2 GJB4
45 autosomal dominant nonsyndromic deafness 9.7 GJB2 GJB3
46 corneal disease 9.7 GJB2 GJB6
47 keratosis 9.7 GJA1 GJB2
48 vohwinkel syndrome 9.5 GJB2 GJB6 LOR
49 hodgkin's lymphoma, nodular sclerosis 9.4 GJB2 GJB3 GJB6
50 vestibular disease 9.4 GJB2 GJB3 GJB6

Graphical network of the top 20 diseases related to Pseudoainhum:



Diseases related to Pseudoainhum

Symptoms & Phenotypes for Pseudoainhum

MGI Mouse Phenotypes related to Pseudoainhum:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 8.92 GJA1 GJB2 GJB3 GJB6

Drugs & Therapeutics for Pseudoainhum

Search Clinical Trials , NIH Clinical Center for Pseudoainhum

Genetic Tests for Pseudoainhum

Anatomical Context for Pseudoainhum

MalaCards organs/tissues related to Pseudoainhum:

41
Eye, Skin

Publications for Pseudoainhum

Articles related to Pseudoainhum:

(show all 40)
# Title Authors Year
1
A novel association of pseudoainhum and epidermolytic ichthyosis, successfully treated with full thickness skin graft after failed z-plasty repair. ( 29469768 )
2018
2
Lamellar ichthyosis associated bilateral pseudoainhum of fingers and toes successfully treated with tazarotene. ( 28730635 )
2017
3
Pseudoainhum and autoamputation associated with lamellar ichthyosis. ( 28936990 )
2017
4
An Alternative Surgical Approach to Pseudoainhum: A Case Report. ( 26961414 )
2016
5
Hanging on by a thread: a rare case of secondary pseudoainhum. ( 26838543 )
2016
6
Pseudoainhum in Systemic Sclerosis. ( 27803345 )
2016
7
Secondary pseudoainhum in a patient with turner syndrome. ( 25288716 )
2014
8
No exonic mutations at GJB2, GJB3, GJB4, GJB6, ARS (Component B), and LOR genes responsible for a Chinese patient affected by progressive symmetric erythrokeratodermia with pseudoainhum. ( 24962725 )
2014
9
Pseudoainhum in a patient with tuberous sclerosis complex: a case report and review of the literature. ( 23879555 )
2013
10
Pseudoainhum in acute psoriasis. ( 23217486 )
2012
11
Pseudoainhum in psoriasis. ( 22707784 )
2012
12
Pseudoainhum of the toe with underlying chronic lower-limb ischemia. ( 21693445 )
2011
13
Papillon-Lefevre syndrome with pseudoainhum. ( 23130191 )
2010
14
Pseudoainhum in gout: a case-report. ( 20554238 )
2010
15
Congenital linear porokeratosis with pseudoainhum. ( 20956098 )
2010
16
Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss. ( 19416251 )
2009
17
Surgical correction of pseudoainhum in chronic epidermolysis bullosa: a case report. ( 19394911 )
2009
18
A case of infantile psoriasis with pseudoainhum successfully treated with topical pimecrolimus and low-dose narrowband UVB phototherapy. ( 17062058 )
2006
19
Bilateral pseudoainhum in lamellar ichthyosis. ( 15078369 )
2004
20
Papillon-LefA"vre syndrome associated with pseudoainhum. ( 15280834 )
2004
21
Eye changes in a patient with lamellar ichthyosis and toe pseudoainhum. ( 15069452 )
2004
22
Lamellar ichthyosis associated with pseudoainhum of the toes and eye changes. ( 12950335 )
2003
23
Pseudoainhum in chronic psoriasis. ( 14632817 )
2003
24
Digital constriction bands in pseudoainhum: morphological radiographic, and histological analysis. ( 11506331 )
2001
25
Pseudoainhum of all fingers associated with Reynolds' syndrome and breast cancer: report of a case and review of the literature. ( 11174422 )
2001
26
Hereditary bullous acrokeratotic poikiloderma of Weary-Kindler associated with pseudoainhum and sclerotic bands. ( 9268754 )
1997
27
A case of atypical localized scleroderma presenting with pseudoainhum: treatment with tranilast, an anti-fibrotic agent. ( 8740281 )
1996
28
Pseudoainhum associated with linear scleroderma. ( 8961892 )
1996
29
Mal de Meleda keratoderma with pseudoainhum. ( 8457455 )
1993
30
Pseudoainhum in porokeratosis of Mibelli. ( 1563285 )
1992
31
Pseudoainhum in Clouston's disease. ( 2335421 )
1990
32
Pseudoainhum and erythropoietic protoporphyria. ( 3342170 )
1988
33
Psoriasis presenting with pseudoainhum. ( 7107993 )
1982
34
Pseudoainhum associated with plica neuropathica. ( 7318501 )
1981
35
Factitious pseudoainhum of the nipple. ( 759125 )
1979
36
Congenital annular bands (pseudoainhum). Associtaion with other congenital abnormalities. ( 4407935 )
1974
37
Pseudoainhum constricting bands of the extremities. ( 4334964 )
1972
38
CONGENITAL PSEUDOAINHUM OF THE FINGERS. REPORT OF A CASE. ( 14149713 )
1964
39
AINHUM AND PSEUDOAINHUM. REPORT OF THREE CASES. ( 14042848 )
1963
40
Pseudoainhum; report of congenital case involving several fingers and left wrist. ( 13091381 )
1953

Variations for Pseudoainhum

Expression for Pseudoainhum

Search GEO for disease gene expression data for Pseudoainhum.

Pathways for Pseudoainhum

GO Terms for Pseudoainhum

Cellular components related to Pseudoainhum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.55 GJA1 GJB2 GJB3 GJB4 GJB6
2 gap junction GO:0005921 9.35 GJA1 GJB2 GJB3 GJB4 GJB6
3 lateral plasma membrane GO:0016328 9.26 GJA1 GJB2
4 connexin complex GO:0005922 9.02 GJA1 GJB2 GJB3 GJB4 GJB6

Biological processes related to Pseudoainhum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.61 GJA1 GJB6 KANK2
2 response to lipopolysaccharide GO:0032496 9.43 GJA1 GJB2 GJB6
3 inner ear development GO:0048839 9.4 GJB2 GJB6
4 response to retinoic acid GO:0032526 9.37 GJA1 GJB2
5 decidualization GO:0046697 9.32 GJA1 GJB2
6 gap junction assembly GO:0016264 9.16 GJA1 GJB2
7 cell communication GO:0007154 9.02 GJA1 GJB2 GJB3 GJB4 GJB6
8 epididymis development GO:1905867 8.96 GJA1 GJB2

Molecular functions related to Pseudoainhum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.8 GJA1 GJB2 GJB3

Sources for Pseudoainhum

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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