MCID: KRT079
MIFTS: 28

Keratosis Pilaris Atrophicans Faciei

Categories: Eye diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Keratosis Pilaris Atrophicans Faciei

MalaCards integrated aliases for Keratosis Pilaris Atrophicans Faciei:

Name: Keratosis Pilaris Atrophicans Faciei 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0080752

Summaries for Keratosis Pilaris Atrophicans Faciei

Disease Ontology : 12 A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area.

MalaCards based summary : Keratosis Pilaris Atrophicans Faciei is related to keratosis pilaris atrophicans and pseudo-turner syndrome. An important gene associated with Keratosis Pilaris Atrophicans Faciei is LRP1 (LDL Receptor Related Protein 1), and among its related pathways/superpathways are HIV Life Cycle and Developmental Biology. Affiliated tissues include skin, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 74 Keratosis pilaris atrophicans faciei begins in infancy as follicular papules with perifollicular... more...

Related Diseases for Keratosis Pilaris Atrophicans Faciei

Diseases related to Keratosis Pilaris Atrophicans Faciei via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 keratosis pilaris atrophicans 32.9 SOS1 LRP1
2 pseudo-turner syndrome 30.0 SOS1 PTPN11 MAP2K1
3 noonan syndrome 1 29.6 SOS1 PTPN11 NF1 MAP2K1
4 ulerythema ophryogenesis 11.5
5 keratosis 10.7
6 dowling-degos disease 1 10.3
7 purpura 10.3
8 follicular mucinosis 10.3
9 pulmonic stenosis 10.1 SOS1 NF1
10 noonan syndrome and noonan-related syndrome 10.0 SOS1 PTPN11
11 villonodular synovitis 10.0 SOS1 PTPN11
12 spinal cord oligodendroglioma 10.0 NF1 EGFR
13 mixed glioma 10.0 NF1 EGFR
14 gliofibroma 9.9 PTPN11 NF1
15 diffuse astrocytoma 9.9 NF1 EGFR
16 specific learning disability 9.9 PTPN11 NF1
17 legius syndrome 9.9 PTPN11 NF1
18 myelodysplastic/myeloproliferative neoplasm 9.9 PTPN11 NF1
19 noonan syndrome 3 9.9 SOS1 PTPN11
20 acneiform dermatitis 9.8 MAP2K1 EGFR
21 corpus callosum lipoma 9.8 NF1 MAP2K1
22 cerebral hemisphere lipoma 9.8 NF1 MAP2K1
23 mixed cell adenoma 9.8 MAP2K1 EGFR
24 helicobacter pylori infection 9.8 PTPN11 EGFR
25 neurofibromatosis 9.8 SOS1 PTPN11 NF1
26 pilocytic astrocytoma 9.7 SOS1 PTPN11 NF1
27 juvenile myelomonocytic leukemia 9.7 SOS1 PTPN11 NF1
28 myeloproliferative neoplasm 9.6 PTPN11 NF1 EGFR
29 embryonal rhabdomyosarcoma 9.6 SOS1 PTPN11
30 noonan syndrome-like disorder with loose anagen hair 2 9.6 SOS1 PTPN11 MAP2K1
31 noonan syndrome-like disorder with loose anagen hair 9.6 SOS1 PTPN11 MAP2K1
32 pulmonary valve disease 9.6 SOS1 PTPN11 MAP2K1
33 pulmonary valve stenosis 9.6 SOS1 PTPN11 MAP2K1
34 brain cancer 9.6 PTPN11 NF1 EGFR
35 costello syndrome 9.6 SOS1 PTPN11 MAP2K1
36 meningioma, familial 9.6 PTPN11 NF1 EGFR
37 melanoma, uveal 9.5 NF1 MAP2K1 EGFR
38 skin melanoma 9.5 NF1 MAP2K1 EGFR
39 myeloma, multiple 9.5 PTPN11 NF1 EGFR
40 leukemia, chronic myeloid 9.4 PTPN11 NF1 EGFR
41 skin granular cell tumor 9.3 SOS1 PTPN11 NF1 MAP2K1
42 neurofibromatosis-noonan syndrome 9.3 SOS1 PTPN11 NF1 MAP2K1
43 noonan syndrome with multiple lentigines 9.3 SOS1 PTPN11 NF1 MAP2K1
44 cardiofaciocutaneous syndrome 1 9.3 SOS1 PTPN11 NF1 MAP2K1
45 lung cancer susceptibility 3 9.3 SOS1 PTPN11 MAP2K1 EGFR
46 leukemia, acute myeloid 9.2 PTPN11 NF1 MAP2K1 EGFR
47 neuroblastoma 9.2 PTPN11 NF1 MAP2K1 EGFR
48 neurofibromatosis, type i 9.0 SOS1 PTPN11 NF1 MAP2K1 EGFR
49 rasopathy 9.0 SOS1 PTPN11 NF1 MAP2K1 EGFR
50 rhabdomyosarcoma 9.0 SOS1 PTPN11 NF1 MAP2K1 EGFR

Graphical network of the top 20 diseases related to Keratosis Pilaris Atrophicans Faciei:



Diseases related to Keratosis Pilaris Atrophicans Faciei

Symptoms & Phenotypes for Keratosis Pilaris Atrophicans Faciei

GenomeRNAi Phenotypes related to Keratosis Pilaris Atrophicans Faciei according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-100 9.44 SOS1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-118 9.44 PTPN11
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-120 9.44 SOS1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-121 9.44 PTPN11
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-138 9.44 PTPN11
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 9.44 PTPN11 SOS1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 9.44 PTPN11
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.44 SOS1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-37 9.44 PTPN11
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-47 9.44 PTPN11
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.44 SOS1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-97 9.44 NF1
13 Decreased cell migration GR00055-A-1 8.96 SOS1
14 Decreased cell migration GR00055-A-3 8.96 EGFR

MGI Mouse Phenotypes related to Keratosis Pilaris Atrophicans Faciei:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.99 EGFR LRP1 MAP2K1 NF1 PTPN11 SOS1
2 cellular MP:0005384 9.97 EGFR LRP1 MAP2K1 NF1 PTPN11 SOS1
3 embryo MP:0005380 9.91 EGFR LRP1 MAP2K1 NF1 PTPN11 SOS1
4 craniofacial MP:0005382 9.88 EGFR MAP2K1 NF1 PTPN11 SOS1
5 digestive/alimentary MP:0005381 9.85 EGFR MAP2K1 NF1 PTPN11 SOS1
6 integument MP:0010771 9.77 EGFR MAP2K1 NF1 PTPN11 SOS1
7 muscle MP:0005369 9.72 EGFR LRP1 NF1 PTPN11 SOS1
8 hearing/vestibular/ear MP:0005377 9.71 EGFR MAP2K1 NF1 PTPN11
9 nervous system MP:0003631 9.63 EGFR LRP1 MAP2K1 NF1 PTPN11 SOS1
10 neoplasm MP:0002006 9.56 EGFR MAP2K1 NF1 PTPN11
11 normal MP:0002873 9.35 EGFR LRP1 MAP2K1 NF1 PTPN11
12 skeleton MP:0005390 9.1 EGFR LRP1 MAP2K1 NF1 PTPN11 SOS1

Drugs & Therapeutics for Keratosis Pilaris Atrophicans Faciei

Search Clinical Trials , NIH Clinical Center for Keratosis Pilaris Atrophicans Faciei

Genetic Tests for Keratosis Pilaris Atrophicans Faciei

Anatomical Context for Keratosis Pilaris Atrophicans Faciei

MalaCards organs/tissues related to Keratosis Pilaris Atrophicans Faciei:

40
Skin

Publications for Keratosis Pilaris Atrophicans Faciei

Articles related to Keratosis Pilaris Atrophicans Faciei:

(show all 15)
# Title Authors PMID Year
1
Lichenoid folliculitis: A unifying concept. 61
28345255 2017
2
Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome. 61
24801913 2014
3
Ulerythema ophryogenes, a rarely reported cutaneous manifestation of noonan syndrome: case report and review of the literature. 61
23673306 2013
4
Keratosis pilaris rubra and keratosis pilaris atrophicans faciei treated with pulsed dye laser: report of 10 cases. 61
20569297 2011
5
Unilateral keratosis pilaris atrophicans faciei mimicking follicular mucinosis. 61
21496685 2011
6
Atrophoderma vermiculatum: a case report and review of the literature on keratosis pilaris atrophicans. 61
19326693 2009
7
[Keratosis pilaris and keratosis pilaris atrophicans faciei]. 61
16638061 2006
8
Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study. 61
16007634 2005
9
Ulerythema ophryogenes in Cornelia de Lange syndrome. 61
11860570 2002
10
[Atrophic pilar keratosis of the face: case report]. 61
11876014 2001
11
Noonan syndrome: a case with recurrent keloid formation. 61
11324394 2001
12
Skin manifestations of cardio-facio-cutaneous syndrome. 61
8491871 1993
13
[Noonan syndrome and keratosis pilaris atrophicans faciei. Significance of dermatologic changes]. 61
4021945 1985
14
The association of keratosis pilaris atrophicans and woolly hair, with and without Noonan's syndrome. 61
6696850 1984
15
Keratosis pilaris atrophicans faciei (ulerythema ophryogenes): a cutaneous marker in the Noonan syndrome. 61
454568 1979

Variations for Keratosis Pilaris Atrophicans Faciei

Expression for Keratosis Pilaris Atrophicans Faciei

Search GEO for disease gene expression data for Keratosis Pilaris Atrophicans Faciei.

Pathways for Keratosis Pilaris Atrophicans Faciei

Pathways related to Keratosis Pilaris Atrophicans Faciei according to GeneCards Suite gene sharing:

(show top 50) (show all 83)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.52 SOS1 PTPN11 NF1 MAP2K1 EGFR
2
Show member pathways
13.28 TCHH SOS1 PTPN11 NF1 MAP2K1 EGFR
3
Show member pathways
13.18 SOS1 PTPN11 NF1 MAP2K1 EGFR
4
Show member pathways
12.76 SOS1 PTPN11 MAP2K1 EGFR
5
Show member pathways
12.72 SOS1 PTPN11 MAP2K1 EGFR
6
Show member pathways
12.69 SOS1 MAP2K1 EGFR
7 12.63 SOS1 NF1 MAP2K1 EGFR
8
Show member pathways
12.55 SOS1 NF1 MAP2K1 EGFR
9
Show member pathways
12.53 SOS1 MAP2K1 EGFR
10
Show member pathways
12.53 SOS1 MAP2K1 EGFR
11
Show member pathways
12.51 SOS1 MAP2K1 EGFR
12 12.5 SOS1 MAP2K1 EGFR
13
Show member pathways
12.47 SOS1 PTPN11 MAP2K1 EGFR
14
Show member pathways
12.46 SOS1 PTPN11 EGFR
15
Show member pathways
12.46 SOS1 PTPN11 MAP2K1
16
Show member pathways
12.44 SOS1 PTPN11 MAP2K1 EGFR
17 12.41 SOS1 MAP2K1 EGFR
18
Show member pathways
12.39 SOS1 PTPN11 MAP2K1
19
Show member pathways
12.38 SOS1 PTPN11 MAP2K1
20
Show member pathways
12.37 SOS1 MAP2K1 EGFR
21
Show member pathways
12.37 SOS1 MAP2K1 EGFR
22
Show member pathways
12.36 SOS1 PTPN11 NF1 MAP2K1 EGFR
23
Show member pathways
12.35 SOS1 PTPN11 MAP2K1
24
Show member pathways
12.32 SOS1 PTPN11 MAP2K1
25
Show member pathways
12.29 SOS1 MAP2K1 EGFR
26
Show member pathways
12.29 SOS1 PTPN11 EGFR
27
Show member pathways
12.28 SOS1 PTPN11 MAP2K1
28
Show member pathways
12.28 SOS1 PTPN11 MAP2K1
29
Show member pathways
12.27 SOS1 PTPN11 MAP2K1 EGFR
30
Show member pathways
12.26 SOS1 PTPN11 MAP2K1
31
Show member pathways
12.26 SOS1 PTPN11 NF1 MAP2K1
32
Show member pathways
12.22 SOS1 MAP2K1 EGFR
33
Show member pathways
12.2 SOS1 MAP2K1 EGFR
34
Show member pathways
12.19 SOS1 PTPN11 MAP2K1
35
Show member pathways
12.19 SOS1 MAP2K1 EGFR
36 12.12 SOS1 PTPN11 MAP2K1 EGFR
37
Show member pathways
12.12 SOS1 PTPN11 MAP2K1 EGFR
38 12.08 SOS1 MAP2K1 EGFR
39
Show member pathways
12.06 SOS1 PTPN11 MAP2K1
40
Show member pathways
11.98 SOS1 MAP2K1 EGFR
41
Show member pathways
11.97 SOS1 PTPN11 MAP2K1
42 11.95 SOS1 PTPN11 MAP2K1 EGFR
43
Show member pathways
11.91 SOS1 PTPN11 NF1 MAP2K1 EGFR
44
Show member pathways
11.88 SOS1 PTPN11 MAP2K1 EGFR
45 11.84 SOS1 MAP2K1 EGFR
46
Show member pathways
11.81 SOS1 PTPN11 MAP2K1
47 11.76 SOS1 MAP2K1 EGFR
48
Show member pathways
11.74 PTPN11 MAP2K1
49
Show member pathways
11.74 SOS1 PTPN11 MAP2K1
50
Show member pathways
11.73 SOS1 PTPN11 MAP2K1

GO Terms for Keratosis Pilaris Atrophicans Faciei

Biological processes related to Keratosis Pilaris Atrophicans Faciei according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.61 PTPN11 NF1 MAP2K1
2 MAPK cascade GO:0000165 9.56 SOS1 NF1 MAP2K1 EGFR
3 positive regulation of protein localization to plasma membrane GO:1903078 9.51 LRP1 EGFR
4 cellular response to epidermal growth factor stimulus GO:0071364 9.49 PTPN11 EGFR
5 hair follicle development GO:0001942 9.48 SOS1 EGFR
6 ERBB2 signaling pathway GO:0038128 9.46 SOS1 EGFR
7 neurotrophin TRK receptor signaling pathway GO:0048011 9.4 SOS1 PTPN11
8 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.37 MAP2K1 EGFR
9 Bergmann glial cell differentiation GO:0060020 9.32 PTPN11 MAP2K1
10 cerebellar cortex formation GO:0021697 9.16 PTPN11 MAP2K1
11 epidermal growth factor receptor signaling pathway GO:0007173 9.13 SOS1 PTPN11 EGFR
12 positive regulation of ERK1 and ERK2 cascade GO:0070374 8.92 PTPN11 MAP2K1 LRP1 EGFR

Sources for Keratosis Pilaris Atrophicans Faciei

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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