APL
MCID: ATR013
MIFTS: 45

Atrichia with Papular Lesions (APL)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Atrichia with Papular Lesions

MalaCards integrated aliases for Atrichia with Papular Lesions:

Name: Atrichia with Papular Lesions 57 12 58 72 36 29 13 6 15 39 70
Papular Atrichia 57 12 58 72 54
Apl 57 72
Congenital Atrichia 72

Characteristics:

Orphanet epidemiological data:

58
atrichia with papular lesions
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
atrichia with papular lesions:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060689
OMIM® 57 209500
KEGG 36 H00780
MeSH 44 D000505
ICD10 32 L65.8
ICD10 via Orphanet 33 L65.8
UMLS via Orphanet 71 C1859592
Orphanet 58 ORPHA86819
MedGen 41 C1859592
SNOMED-CT via HPO 68 258211005 53602002 56558005
UMLS 70 C1859592

Summaries for Atrichia with Papular Lesions

KEGG : 36 Atrichia with papular lesions is a rare disease characterized by early onset irreversible alopecia and papular lesions of keratin-filled cysts over the extensor areas of the body. It is caused by mutations in hairless gene, whose defects brings about complete hair loss in mice. It is inherited in autosomal recessive manner.

MalaCards based summary : Atrichia with Papular Lesions, also known as papular atrichia, is related to alopecia universalis congenita and alopecia. An important gene associated with Atrichia with Papular Lesions is HR (HR Lysine Demethylase And Nuclear Receptor Corepressor), and among its related pathways/superpathways are Keratinization and Retinoic acid receptors-mediated signaling. Affiliated tissues include myeloid, spinal cord and placenta, and related phenotypes are sparse hair and generalized papillary lesions

Disease Ontology : 12 An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has material basis in mutations in the HR gene on chromosome 8p21.3.

UniProtKB/Swiss-Prot : 72 Atrichia with papular lesions: An autosomal recessive disease characterized by papillary lesions over most of the body and almost complete absence of hair.

Wikipedia : 73 Atrichia with papular lesions (a.k.a. "Papular atrichia") is a diffuse hair loss caused by an... more...

More information from OMIM: 209500

Related Diseases for Atrichia with Papular Lesions

Diseases related to Atrichia with Papular Lesions via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 160)
# Related Disease Score Top Affiliating Genes
1 alopecia universalis congenita 31.9 LCOR KRT86 HR
2 alopecia 30.4 VDR KRT86 KRT83 HR ANTXR1
3 hypotrichosis 27.8 LPAR6 LIPH KRT86 KRT83 KRT74 HR
4 acute promyelocytic leukemia 11.6
5 lipodystrophy, partial, acquired 11.1
6 sneddon syndrome 11.1
7 marie unna congenital hypotrichosis 11.0
8 leukemia 10.7
9 leukemia, acute myeloid 10.5
10 antiphospholipid syndrome 10.5
11 autosomal recessive disease 10.4
12 rickets 10.4
13 myeloid leukemia 10.3
14 alopecia, congenital 10.3
15 vitamin d-dependent rickets 10.3
16 ectodermal dysplasia 10.3
17 systemic lupus erythematosus 10.2
18 lupus erythematosus 10.2
19 disseminated intravascular coagulation 10.2
20 alopecia areata 1 10.1
21 hypophosphatemic rickets, x-linked recessive 10.1
22 exanthem 10.1
23 common variable immunodeficiency 10.1
24 hereditary hypophosphatemic rickets 10.1
25 ichthyosis 10.1
26 palmoplantar keratosis 10.1
27 autoimmune disease 10.1
28 47,xyy 10.1
29 chromosomal triplication 10.1
30 dysembryoplastic neuroepithelial tumor 10.1 LCOR KDM4C
31 central nervous system hematologic cancer 10.1 LCOR KDM4C
32 ectodermal dysplasia 6, hair/nail type 10.1 KRT74 DSG4
33 thrombosis 10.1
34 hemiplegia 10.1
35 alopecia areata 10.1
36 hidrotic ectodermal dysplasia 2 10.1
37 ectodermal dysplasia 5, hair/nail type 10.1 KRT74 DSG4
38 androgenic alopecia 10.0
39 ectodermal dysplasia 9, hair/nail type 10.0 KRT74 DSG4
40 primary hyperoxaluria 10.0 LCOR KDM4C HDAC1
41 ectodermal dysplasia 7, hair/nail type 10.0 KRT74 DSG4
42 diffuse alopecia areata 10.0 LIPH KRT86
43 myelodysplastic syndrome 10.0
44 pre-eclampsia 10.0
45 acute leukemia 10.0
46 placenta disease 10.0
47 hypotrichosis simplex of the scalp 10.0 KRT74 CDSN
48 alzheimer disease 9.9
49 prostate cancer 9.9
50 intracranial hypertension, idiopathic 9.9

Graphical network of the top 20 diseases related to Atrichia with Papular Lesions:



Diseases related to Atrichia with Papular Lesions

Symptoms & Phenotypes for Atrichia with Papular Lesions

Human phenotypes related to Atrichia with Papular Lesions:

31
# Description HPO Frequency HPO Source Accession
1 sparse hair 31 HP:0008070
2 generalized papillary lesions 31 HP:0007482

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Hair:
hypotrichosis
hair follicles cystic

Skin Nails Hair Skin:
papillary lesions, generalized

Clinical features from OMIM®:

209500 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Atrichia with Papular Lesions according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.55 LIPH
2 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.55 LIPH
3 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.55 ANTXR1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-15 9.55 LIPH
5 Increased shRNA abundance (Z-score > 2) GR00366-A-150 9.55 KDM4C
6 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.55 KDM4C
7 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.55 ANTXR1 LIPH
8 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.55 KDM4C
9 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.55 LIPH
10 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.55 ANTXR1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.55 LIPH
12 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.55 LIPH
13 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.55 LIPH
14 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.55 ANTXR1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-72 9.55 KDM4C
16 Increased shRNA abundance (Z-score > 2) GR00366-A-75 9.55 LIPH

MGI Mouse Phenotypes related to Atrichia with Papular Lesions:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.5 DSG4 HDAC1 HR KDM4C KRT86 LIPH
2 pigmentation MP:0001186 8.92 DSG4 HDAC1 HR LIPH

Drugs & Therapeutics for Atrichia with Papular Lesions

Search Clinical Trials , NIH Clinical Center for Atrichia with Papular Lesions

Genetic Tests for Atrichia with Papular Lesions

Genetic tests related to Atrichia with Papular Lesions:

# Genetic test Affiliating Genes
1 Atrichia with Papular Lesions 29 HR

Anatomical Context for Atrichia with Papular Lesions

MalaCards organs/tissues related to Atrichia with Papular Lesions:

40
Myeloid, Spinal Cord, Placenta, Prostate, Thyroid, Skin

Publications for Atrichia with Papular Lesions

Articles related to Atrichia with Papular Lesions:

(show top 50) (show all 70)
# Title Authors PMID Year
1
Atrichia with papular lesions resulting from compound heterozygous mutations in the hairless gene: A lesson for differential diagnosis of alopecia universalis. 6 61 57
12271294 2002
2
Identification of a genetic defect in the hairless gene in atrichia with papular lesions: evidence for phenotypic heterogeneity among inherited atrichias. 6 57 61
10205263 1999
3
Atrichia with papular lesions maps to 8p in the region containing the human hairless gene. 61 57 6
9880231 1998
4
Novel Hairless mutations in two kindreds with autosomal recessive papular atrichia. 61 54 6
10594736 1999
5
Nonsense mutations in the hairless gene underlie APL in five families of Pakistani origin. 57 61
17869066 2007
6
Compound heterozygous mutations in the hairless gene in atrichia with papular lesions. 57 61
12880440 2003
7
Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions. 57 61
11982770 2002
8
Variant 1859G-->A (Arg620Gln) of the "hairless" gene: absence of association with papular atrichia or androgenic alopecia. 57 61
11410842 2001
9
Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene. 61 57
10827399 2000
10
Atrichia with papular lesions: successful genetic counselling about having a child. 61 6
9892925 1998
11
Atrichia with papular lesions. 57 61
13763141 1961
12
Atrichia with papular lesions; a variant of congenital ectodermal dysplasia. 61 57
13150805 1954
13
Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene. 57
11564167 2001
14
A homozygous nonsense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia. 6
10469319 1999
15
Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family. 6
10051399 1999
16
A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers. 57
9758627 1998
17
Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene. 6
9856480 1998
18
The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach. 54 61
11966690 2002
19
Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families. 61
32020700 2020
20
Congenital atrichia with papular lesions. 61
32621683 2020
21
Atrichia with Papular Lesions: Importance of Histology at an Early Disease Stage. 61
30197886 2018
22
Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia. 61
29589644 2018
23
Disease causing homozygous variants in the human hairless gene. 61
26680117 2016
24
Unusual presentation of atrichia with papular lesions. 61
25657443 2015
25
Hairless is a histone H3K9 demethylase. 61
24334705 2014
26
Identification of novel mutation in the HR gene responsible for atrichia with papular lesions in a Pakistani family. 61
24111842 2013
27
Hairless and the polyamine putrescine form a negative regulatory loop in the epidermis. 61
24079733 2013
28
Atrichia with papular lesions in a chinese family caused by novel compound heterozygous mutations and literature review. 61
23548463 2013
29
Hairless and NFκB form a positive feedback loop after UVB and TNFα stimulation. 61
22329811 2012
30
Mechanism of JmjC-containing protein Hairless in the regulation of vitamin D receptor function. 61
21982945 2011
31
Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families. 61
21919222 2011
32
Atrichia with papular lesions. 61
22223974 2011
33
Detection of a novel missense mutations in atrichia with papular lesions. 61
21747609 2011
34
Identification of a new mutation in the gene coding for hairless protein responsible for alopecia universalis: The importance of direct gene sequencing. 61
21272494 2011
35
Mutations in the hairless gene underlie APL in three families of Pakistani origin. 61
18164595 2008
36
Atrichia with papular lesions: a report of three novel human hairless gene mutations and a revision of diagnostic criteria. 61
18709303 2008
37
Atrichia with papular lesions resulting from novel compound heterozygous mutations in the human hairless gene. 61
17958788 2007
38
Interactions of the vitamin D receptor with the corepressor hairless: analysis of hairless mutants in atrichia with papular lesions. 61
17609203 2007
39
Identification of mutations in the human hairless gene in two new families with congenital atrichia. 61
17372750 2007
40
Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene. 61
16901311 2006
41
Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene. 61
16211417 2005
42
Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesions. 61
16023329 2005
43
Identification of a novel splice site mutation in the human hairless gene underlying atrichia with papular lesions. 61
16172039 2005
44
Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions. 61
15953070 2005
45
The alopecias associated with vitamin D-dependent rickets type IIA and with hairless gene mutations: a comparative clinical, histologic, and immunohistochemical study. 61
15781675 2005
46
Interaction of hairless and thyroid hormone receptor is not involved in the pathogenesis of atrichia with papular lesions. 61
15086341 2004
47
The hairless promoter is differentially regulated by thyroid hormone in keratinocytes and neuroblastoma cells. 61
15086342 2004
48
Clinical and pathologic correlations in genetically distinct forms of atrichia. 61
14676077 2003
49
Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene. 61
12950347 2003
50
Compound heterozygosity for mutations in the hairless gene causes atrichia with papular lesions. 61
12653749 2003

Variations for Atrichia with Papular Lesions

ClinVar genetic disease variations for Atrichia with Papular Lesions:

6 (show top 50) (show all 170)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HR HR, 1-BP DEL, 2147C Deletion Pathogenic 7333 GRCh37:
GRCh38:
2 HR HR, 1-BP DEL, 3434C Deletion Pathogenic 7334 GRCh37:
GRCh38:
3 HR NM_005144.4(HR):c.1837C>T (p.Arg613Ter) SNV Pathogenic 7335 rs121434449 GRCh37: 8:21981240-21981240
GRCh38: 8:22123727-22123727
4 HR HR, 1-BP DEL, 1256C Deletion Pathogenic 7336 GRCh37:
GRCh38:
5 HR HR, 2-BP DEL, 2847AG Deletion Pathogenic 7338 GRCh37:
GRCh38:
6 HR NM_005144.4(HR):c.3526C>T (p.Gln1176Ter) SNV Pathogenic 7339 rs121434450 GRCh37: 8:21973257-21973257
GRCh38: 8:22115744-22115744
7 HR NM_005144.5(HR):c.1997_2000CCAG[1] (p.Ser667fs) Microsatellite Pathogenic 667396 rs1477806230 GRCh37: 8:21980304-21980307
GRCh38: 8:22122791-22122794
8 HR NM_005144.5(HR):c.1618G>A (p.Glu540Lys) SNV Uncertain significance 908090 GRCh37: 8:21982956-21982956
GRCh38: 8:22125443-22125443
9 HR NM_005144.5(HR):c.1584G>A (p.Gln528=) SNV Uncertain significance 908091 GRCh37: 8:21982990-21982990
GRCh38: 8:22125477-22125477
10 HR NM_005144.5(HR):c.1440G>A (p.Pro480=) SNV Uncertain significance 908154 GRCh37: 8:21983211-21983211
GRCh38: 8:22125698-22125698
11 HR NM_005144.4(HR):c.*751G>C SNV Uncertain significance 362461 rs777189827 GRCh37: 8:21972462-21972462
GRCh38: 8:22114949-22114949
12 HR NM_005144.4(HR):c.2217C>T (p.Ser739=) SNV Uncertain significance 362499 rs574361484 GRCh37: 8:21978728-21978728
GRCh38: 8:22121215-22121215
13 HR NM_005144.4(HR):c.*734G>A SNV Uncertain significance 362462 rs536800865 GRCh37: 8:21972479-21972479
GRCh38: 8:22114966-22114966
14 HR NM_005144.4(HR):c.970C>T (p.Arg324Trp) SNV Uncertain significance 362526 rs143170974 GRCh37: 8:21984985-21984985
GRCh38: 8:22127472-22127472
15 HR NM_005144.4(HR):c.*294C>T SNV Uncertain significance 362465 rs550603067 GRCh37: 8:21972919-21972919
GRCh38: 8:22115406-22115406
16 HR NM_005144.5(HR):c.877G>A (p.Val293Ile) SNV Uncertain significance 908228 GRCh37: 8:21985078-21985078
GRCh38: 8:22127565-22127565
17 HR NM_005144.5(HR):c.639T>A (p.Ile213=) SNV Uncertain significance 908229 GRCh37: 8:21985316-21985316
GRCh38: 8:22127803-22127803
18 HR NM_005144.5(HR):c.550C>A (p.His184Asn) SNV Uncertain significance 908230 GRCh37: 8:21986134-21986134
GRCh38: 8:22128621-22128621
19 HR NM_005144.5(HR):c.-40-14T>C SNV Uncertain significance 908292 GRCh37: 8:21986737-21986737
GRCh38: 8:22129224-22129224
20 HR NM_005144.5(HR):c.-106G>A SNV Uncertain significance 908293 GRCh37: 8:21988006-21988006
GRCh38: 8:22130493-22130493
21 HR NM_005144.5(HR):c.*1253T>C SNV Uncertain significance 908818 GRCh37: 8:21971960-21971960
GRCh38: 8:22114447-22114447
22 HR NM_005144.5(HR):c.*1145C>T SNV Uncertain significance 908819 GRCh37: 8:21972068-21972068
GRCh38: 8:22114555-22114555
23 HR NM_005144.5(HR):c.*1125C>T SNV Uncertain significance 908820 GRCh37: 8:21972088-21972088
GRCh38: 8:22114575-22114575
24 HR NM_005144.5(HR):c.*617G>C SNV Uncertain significance 908875 GRCh37: 8:21972596-21972596
GRCh38: 8:22115083-22115083
25 HR NM_005144.5(HR):c.2522C>T (p.Pro841Leu) SNV Uncertain significance 909069 GRCh37: 8:21978317-21978317
GRCh38: 8:22120804-22120804
26 HR NM_005144.5(HR):c.2104G>A (p.Gly702Arg) SNV Uncertain significance 909139 GRCh37: 8:21980023-21980023
GRCh38: 8:22122510-22122510
27 HR NM_005144.5(HR):c.*1054C>T SNV Uncertain significance 909670 GRCh37: 8:21972159-21972159
GRCh38: 8:22114646-22114646
28 HR NM_005144.5(HR):c.*1020C>A SNV Uncertain significance 909671 GRCh37: 8:21972193-21972193
GRCh38: 8:22114680-22114680
29 HR NM_005144.5(HR):c.*579C>T SNV Uncertain significance 908877 GRCh37: 8:21972634-21972634
GRCh38: 8:22115121-22115121
30 HR NM_005144.5(HR):c.*420C>T SNV Uncertain significance 909736 GRCh37: 8:21972793-21972793
GRCh38: 8:22115280-22115280
31 HR NM_005144.5(HR):c.*295G>A SNV Uncertain significance 909737 GRCh37: 8:21972918-21972918
GRCh38: 8:22115405-22115405
32 HR NM_005144.5(HR):c.3406G>A (p.Val1136Ile) SNV Uncertain significance 909807 GRCh37: 8:21973914-21973914
GRCh38: 8:22116401-22116401
33 HR NM_005144.5(HR):c.2993G>A (p.Arg998Gln) SNV Uncertain significance 909871 GRCh37: 8:21976781-21976781
GRCh38: 8:22119268-22119268
34 HR NM_005144.5(HR):c.2953G>A (p.Glu985Lys) SNV Uncertain significance 909872 GRCh37: 8:21977297-21977297
GRCh38: 8:22119784-22119784
35 HR NM_005144.5(HR):c.2412G>C (p.Val804=) SNV Uncertain significance 909922 GRCh37: 8:21978427-21978427
GRCh38: 8:22120914-22120914
36 HR NM_005144.5(HR):c.1934C>A (p.Ala645Glu) SNV Uncertain significance 909986 GRCh37: 8:21980374-21980374
GRCh38: 8:22122861-22122861
37 HR NM_005144.5(HR):c.1575G>A (p.Glu525=) SNV Uncertain significance 910042 GRCh37: 8:21982999-21982999
GRCh38: 8:22125486-22125486
38 HR NM_005144.5(HR):c.1571G>A (p.Gly524Glu) SNV Uncertain significance 910043 GRCh37: 8:21983003-21983003
GRCh38: 8:22125490-22125490
39 HR NM_005144.5(HR):c.1557-10C>T SNV Uncertain significance 910044 GRCh37: 8:21983027-21983027
GRCh38: 8:22125514-22125514
40 HR NM_005144.5(HR):c.2828G>A (p.Gly943Glu) SNV Uncertain significance 910767 GRCh37: 8:21977635-21977635
GRCh38: 8:22120122-22120122
41 HR NM_005144.5(HR):c.2776+4A>G SNV Uncertain significance 910768 GRCh37: 8:21977851-21977851
GRCh38: 8:22120338-22120338
42 HR NM_005144.5(HR):c.2355G>A (p.Pro785=) SNV Uncertain significance 910822 GRCh37: 8:21978590-21978590
GRCh38: 8:22121077-22121077
43 HR NM_005144.5(HR):c.2354C>T (p.Pro785Leu) SNV Uncertain significance 910823 GRCh37: 8:21978591-21978591
GRCh38: 8:22121078-22121078
44 HR NM_005144.5(HR):c.2347G>T (p.Val783Phe) SNV Uncertain significance 910824 GRCh37: 8:21978598-21978598
GRCh38: 8:22121085-22121085
45 HR NM_005144.5(HR):c.1853G>A (p.Ser618Asn) SNV Uncertain significance 910872 GRCh37: 8:21981224-21981224
GRCh38: 8:22123711-22123711
46 HR NM_005144.5(HR):c.1772A>G (p.Glu591Gly) SNV Uncertain significance 910873 GRCh37: 8:21981305-21981305
GRCh38: 8:22123792-22123792
47 HR NM_005144.5(HR):c.1766T>C (p.Val589Ala) SNV Uncertain significance 910874 GRCh37: 8:21981311-21981311
GRCh38: 8:22123798-22123798
48 HR NM_005144.5(HR):c.1552C>T (p.Arg518Trp) SNV Uncertain significance 910941 GRCh37: 8:21983099-21983099
GRCh38: 8:22125586-22125586
49 HR NM_005144.4(HR):c.1527G>A (p.Gly509=) SNV Uncertain significance 731608 rs73549518 GRCh37: 8:21983124-21983124
GRCh38: 8:22125611-22125611
50 HR NM_005144.5(HR):c.1077C>T (p.Ser359=) SNV Uncertain significance 911002 GRCh37: 8:21984878-21984878
GRCh38: 8:22127365-22127365

Expression for Atrichia with Papular Lesions

Search GEO for disease gene expression data for Atrichia with Papular Lesions.

Pathways for Atrichia with Papular Lesions

Pathways related to Atrichia with Papular Lesions according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.48 KRT86 KRT83 KRT74 DSG4 CDSN
2 10.35 VDR HDAC1

GO Terms for Atrichia with Papular Lesions

Cellular components related to Atrichia with Papular Lesions according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 9.33 KRT86 KRT83 KRT74
2 cornified envelope GO:0001533 9.32 DSG4 CDSN
3 histone deacetylase complex GO:0000118 9.26 HR HDAC1
4 desmosome GO:0030057 8.96 DSG4 CDSN
5 keratin filament GO:0045095 8.8 KRT86 KRT83 KRT74

Biological processes related to Atrichia with Papular Lesions according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.26 KRT86 KRT83 KRT74 DSG4
2 histone H3-K9 demethylation GO:0033169 9.16 KDM4C HR
3 cornification GO:0070268 9.02 KRT86 KRT83 KRT74 DSG4 CDSN

Molecular functions related to Atrichia with Papular Lesions according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 histone demethylase activity (H3-K9 specific) GO:0032454 8.62 KDM4C HR

Sources for Atrichia with Papular Lesions

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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