APL
MCID: ATR013
MIFTS: 43

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 58 12 60 76 38 30 13 6 15 41 74
Papular Atrichia 58 12 60 76 56
Apl 58 76
Congenital Atrichia 76

Characteristics:

Orphanet epidemiological data:

60
atrichia with papular lesions
Inheritance: Autosomal recessive;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
atrichia with papular lesions:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060689
OMIM 58 209500
KEGG 38 H00780
MeSH 45 D000505
ICD10 34 L65.8
ICD10 via Orphanet 35 L65.8
UMLS via Orphanet 75 C1859592
Orphanet 60 ORPHA86819
MedGen 43 C1859592
SNOMED-CT via HPO 70 258211005 53602002 56558005
UMLS 74 C1859592

Summaries for Atrichia with Papular 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.

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 Ovarian Infertility Genes and Regulation of nuclear SMAD2/3 signaling. Affiliated tissues include skin, myeloid and thyroid, and related phenotypes are hypotrichosis and generalized papillary lesions

UniProtKB/Swiss-Prot : 76 Atrichia with papular lesions: An autosomal recessive disease characterized by papillary lesions over most of the body and almost complete absence of hair.

Wikipedia : 77 Atrichia with papular lesions (a.k.a. "Papular atrichia") is a diffuse hair loss caused by an... more...

Description 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 59)
# Related Disease Score Top Affiliating Genes
1 alopecia universalis congenita 30.7 HR MBTPS2
2 alopecia 30.6 ANTXR1 HR MBTPS2 VDR
3 acute promyelocytic leukemia 12.3
4 antiphospholipid syndrome 11.5
5 sneddon syndrome 11.3
6 lipodystrophy, partial, acquired 11.3
7 marie unna congenital hypotrichosis 11.2
8 leukemia 10.9
9 keratosis follicularis spinulosa decalvans, x-linked 10.3 MBTPS2 SAT1
10 keratosis follicularis spinulosa decalvans 10.3 MBTPS2 SAT1
11 vitamin d-dependent rickets, type 2a 10.3 CYP27B1 VDR
12 breast adenoma 10.3 KRT17 ODC1
13 corneal degeneration 10.3 MBTPS2 SAT1
14 hypervitaminosis d 10.3 CYP27B1 VDR
15 rheumatoid arthritis 10.3
16 blepharitis 10.2 MBTPS2 SAT1
17 ectropion 10.2 MBTPS2 SAT1
18 systemic lupus erythematosus 10.2
19 lupus erythematosus 10.2
20 androgenic alopecia 10.2
21 ectodermal dysplasia 10.2
22 hypotrichosis 10.1
23 phosphorus metabolism disease 10.1 CYP27B1 VDR
24 morpheaform basal cell carcinoma 10.1 KRT17 KRT19
25 achondroplasia 10.1
26 myelodysplastic syndrome 10.1
27 blood group, gerbich system 10.1
28 lymphoma 10.1
29 thrombosis 10.1
30 hair disease 10.1 ANTXR1 MBTPS2 SAT1 VDR
31 superior mesenteric artery syndrome 10.0 KRT17 KRT19
32 ichthyosis 10.0
33 palmoplantar keratosis 10.0
34 situs inversus 10.0
35 ichthyosis follicularis atrichia photophobia syndrome 10.0
36 kid syndrome 10.0
37 mesocardia 10.0
38 secondary hyperparathyroidism of renal origin 10.0 CYP27B1 VDR
39 hypertension, essential 9.9
40 phosphatase, acid, of tissues 9.9
41 acid phosphatase deficiency 9.9
42 intracranial hypertension, idiopathic 9.9
43 stroke, ischemic 9.9
44 leukemia, acute myeloid 9.9
45 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 9.9
46 pulmonary hypertension 9.9
47 acute leukemia 9.9
48 crohn's disease 9.9
49 hematopoietic stem cell transplantation 9.9
50 mantle cell lymphoma 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:

33
# Description HPO Frequency HPO Source Accession
1 hypotrichosis 33 HP:0001006
2 generalized papillary lesions 33 HP:0007482

Symptoms via clinical synopsis from OMIM:

58
Skin:
hypotrichosis
hair follicles cystic
papillary lesions, generalized

Clinical features from OMIM:

209500

MGI Mouse Phenotypes related to Atrichia with Papular Lesions:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.18 ANTXR1 CYP27B1 HDAC1 HR KRT17 KRT19
2 endocrine/exocrine gland MP:0005379 10.02 ANTXR1 CYP27B1 HDAC1 HR KRT19 MXI1
3 growth/size/body region MP:0005378 10 ANTXR1 CYP27B1 HDAC1 HR KRT17 KRT19
4 cardiovascular system MP:0005385 9.98 ANTXR1 HDAC1 HR KRT19 NCOR1 NR6A1
5 craniofacial MP:0005382 9.91 ANTXR1 CYP27B1 HDAC1 HR KRT17 NR6A1
6 integument MP:0010771 9.76 CYP27B1 HDAC1 HR KRT17 KRT19 NCOR1
7 neoplasm MP:0002006 9.43 ANTXR1 HDAC1 HR KRT19 MXI1 SAT1
8 reproductive system MP:0005389 9.23 ANTXR1 CYP27B1 HR KRT19 MXI1 NR6A1

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 30 HR

Anatomical Context for Atrichia with Papular Lesions

MalaCards organs/tissues related to Atrichia with Papular Lesions:

42
Skin, Myeloid, Thyroid, Breast, T Cells, B Cells

Publications for Atrichia with Papular Lesions

Articles related to Atrichia with Papular Lesions:

(show all 43)
# Title Authors Year
1
Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia. ( 29589644 )
2018
2
Atrichia with Papular Lesions: Importance of Histology at an Early Disease Stage. ( 30197886 )
2018
3
Unusual presentation of atrichia with papular lesions. ( 25657443 )
2015
4
Atrichia with papular lesions in a chinese family caused by novel compound heterozygous mutations and literature review. ( 23548463 )
2013
5
Identification of novel mutation in the HR gene responsible for atrichia with papular lesions in a Pakistani family. ( 24111842 )
2013
6
Detection of a novel missense mutations in atrichia with papular lesions. ( 21747609 )
2011
7
Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families. ( 21919222 )
2011
8
Atrichia with papular lesions. ( 22223974 )
2011
9
Atrichia with papular lesions: a report of three novel human hairless gene mutations and a revision of diagnostic criteria. ( 18709303 )
2008
10
Interactions of the vitamin D receptor with the corepressor hairless: analysis of hairless mutants in atrichia with papular lesions. ( 17609203 )
2007
11
Atrichia with papular lesions resulting from novel compound heterozygous mutations in the human hairless gene. ( 17958788 )
2007
12
Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene. ( 16901311 )
2006
13
Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions. ( 15953070 )
2005
14
Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesions. ( 16023329 )
2005
15
Identification of a novel splice site mutation in the human hairless gene underlying atrichia with papular lesions. ( 16172039 )
2005
16
Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene. ( 16211417 )
2005
17
Interaction of hairless and thyroid hormone receptor is not involved in the pathogenesis of atrichia with papular lesions. ( 15086341 )
2004
18
Compound heterozygosity for mutations in the hairless gene causes atrichia with papular lesions. ( 12653749 )
2003
19
Compound heterozygous mutations in the hairless gene in atrichia with papular lesions. ( 12880440 )
2003
20
Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene. ( 12950347 )
2003
21
Atrichia with papular lesions resulting from mutations in the rhesus macaque (Macaca mulatta) hairless gene. ( 11831740 )
2002
22
Evidence for pseudodominant inheritance of atrichia with papular lesions. ( 11982769 )
2002
23
Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions. ( 11982770 )
2002
24
Atrichia with papular lesions resulting from compound heterozygous mutations in the hairless gene: A lesson for differential diagnosis of alopecia universalis. ( 12271294 )
2002
25
Variant 1859G-->A (Arg620Gln) of the "hairless" gene: absence of association with papular atrichia or androgenic alopecia. ( 11410842 )
2001
26
Atrichia with papular lesions: electron microscopic observations of cystic lesions. ( 11391105 )
2001
27
Guess what! Atrichia with papular lesions. ( 11458925 )
2001
28
Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions. ( 11886538 )
2001
29
Ornithine decarboxylase transgenic mice as a model for human atrichia with papular lesions. ( 10772389 )
2000
30
A novel missense mutation (C622G) in the zinc-finger domain of the human hairless gene associated with congenital atrichia with papular lesions. ( 10772391 )
2000
31
Atrichia with papular lesions resulting from a nonsense mutation within the human hairless gene. ( 10504459 )
1999
32
Identification of a genetic defect in the hairless gene in atrichia with papular lesions: evidence for phenotypic heterogeneity among inherited atrichias. ( 10205263 )
1999
33
Novel Hairless mutations in two kindreds with autosomal recessive papular atrichia. ( 10594736 )
1999
34
Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family. ( 10051399 )
1999
35
A homozygous nonsense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia. ( 10469319 )
1999
36
Atrichia with papular lesions maps to 8p in the region containing the human hairless gene. ( 9880231 )
1998
37
Atrichia with papular lesions: successful genetic counselling about having a child. ( 9892925 )
1998
38
Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene. ( 9856480 )
1998
39
Atrichia with papular lesions. ( 3707174 )
1986
40
Atrichia with papular lesions associated with gastrointestinal polyposis. ( 381346 )
1979
41
Atrichia with papular lesions and mental retardation in two sisters. ( 4418335 )
1974
42
Atrichia with papular lesions. ( 13763141 )
1961
43
Atrichia with papular lesions; a variant of congenital ectodermal dysplasia. ( 13150805 )
1954

Variations for Atrichia with Papular Lesions

ClinVar genetic disease variations for Atrichia with Papular Lesions:

6 (show top 50) (show all 187)
# Gene Variation Type Significance SNP ID Assembly Location
1 HR HR, 1-BP DEL, 2147C deletion Pathogenic
2 HR HR, 1-BP DEL, 3434C deletion Pathogenic
3 HR NM_005144.4(HR): c.1837C> T (p.Arg613Ter) single nucleotide variant Pathogenic rs121434449 GRCh37 Chromosome 8, 21981240: 21981240
4 HR NM_005144.4(HR): c.1837C> T (p.Arg613Ter) single nucleotide variant Pathogenic rs121434449 GRCh38 Chromosome 8, 22123727: 22123727
5 HR HR, 1-BP DEL, 1256C deletion Pathogenic
6 HR HR, 21-BP DEL, NT1261 deletion Pathogenic
7 HR HR, 2-BP DEL, 2847AG deletion Pathogenic
8 HR NM_005144.4(HR): c.3526C> T (p.Gln1176Ter) single nucleotide variant Pathogenic rs121434450 GRCh37 Chromosome 8, 21973257: 21973257
9 HR NM_005144.4(HR): c.3526C> T (p.Gln1176Ter) single nucleotide variant Pathogenic rs121434450 GRCh38 Chromosome 8, 22115744: 22115744
10 HR NM_005144.4(HR): c.*931T> C single nucleotide variant Likely benign rs76436208 GRCh38 Chromosome 8, 22114769: 22114769
11 HR NM_005144.4(HR): c.*931T> C single nucleotide variant Likely benign rs76436208 GRCh37 Chromosome 8, 21972282: 21972282
12 HR NM_005144.4(HR): c.*751G> C single nucleotide variant Uncertain significance rs777189827 GRCh38 Chromosome 8, 22114949: 22114949
13 HR NM_005144.4(HR): c.*751G> C single nucleotide variant Uncertain significance rs777189827 GRCh37 Chromosome 8, 21972462: 21972462
14 HR NM_005144.4(HR): c.*734G> A single nucleotide variant Uncertain significance rs536800865 GRCh38 Chromosome 8, 22114966: 22114966
15 HR NM_005144.4(HR): c.*734G> A single nucleotide variant Uncertain significance rs536800865 GRCh37 Chromosome 8, 21972479: 21972479
16 HR NM_005144.4(HR): c.*303G> A single nucleotide variant Uncertain significance rs181310087 GRCh38 Chromosome 8, 22115397: 22115397
17 HR NM_005144.4(HR): c.*303G> A single nucleotide variant Uncertain significance rs181310087 GRCh37 Chromosome 8, 21972910: 21972910
18 HR NM_005144.4(HR): c.*240C> A single nucleotide variant Benign rs6994872 GRCh38 Chromosome 8, 22115460: 22115460
19 HR NM_005144.4(HR): c.*240C> A single nucleotide variant Benign rs6994872 GRCh37 Chromosome 8, 21972973: 21972973
20 HR NM_005144.4(HR): c.*218T> C single nucleotide variant Likely benign rs74869265 GRCh38 Chromosome 8, 22115482: 22115482
21 HR NM_005144.4(HR): c.*218T> C single nucleotide variant Likely benign rs74869265 GRCh37 Chromosome 8, 21972995: 21972995
22 HR NM_005144.4(HR): c.*185C> G single nucleotide variant Uncertain significance rs886062804 GRCh38 Chromosome 8, 22115515: 22115515
23 HR NM_005144.4(HR): c.*185C> G single nucleotide variant Uncertain significance rs886062804 GRCh37 Chromosome 8, 21973028: 21973028
24 HR NM_005144.4(HR): c.*180G> A single nucleotide variant Uncertain significance rs564901808 GRCh38 Chromosome 8, 22115520: 22115520
25 HR NM_005144.4(HR): c.*180G> A single nucleotide variant Uncertain significance rs564901808 GRCh37 Chromosome 8, 21973033: 21973033
26 HR NM_005144.4(HR): c.3098-13C> G single nucleotide variant Uncertain significance rs886062806 GRCh37 Chromosome 8, 21976591: 21976591
27 HR NM_005144.4(HR): c.3098-13C> G single nucleotide variant Uncertain significance rs886062806 GRCh38 Chromosome 8, 22119078: 22119078
28 HR NM_005144.4(HR): c.2777-10C> T single nucleotide variant Uncertain significance rs767116700 GRCh37 Chromosome 8, 21977696: 21977696
29 HR NM_005144.4(HR): c.2777-10C> T single nucleotide variant Uncertain significance rs767116700 GRCh38 Chromosome 8, 22120183: 22120183
30 HR NM_005144.4(HR): c.2566C> G (p.Arg856Gly) single nucleotide variant Uncertain significance rs377059643 GRCh37 Chromosome 8, 21978273: 21978273
31 HR NM_005144.4(HR): c.2566C> G (p.Arg856Gly) single nucleotide variant Uncertain significance rs377059643 GRCh38 Chromosome 8, 22120760: 22120760
32 HR NM_005144.4(HR): c.2298G> A (p.Ala766=) single nucleotide variant Uncertain significance rs145225497 GRCh38 Chromosome 8, 22121134: 22121134
33 HR NM_005144.4(HR): c.2298G> A (p.Ala766=) single nucleotide variant Uncertain significance rs145225497 GRCh37 Chromosome 8, 21978647: 21978647
34 HR NM_005144.4(HR): c.2217C> T (p.Ser739=) single nucleotide variant Uncertain significance rs574361484 GRCh38 Chromosome 8, 22121215: 22121215
35 HR NM_005144.4(HR): c.2217C> T (p.Ser739=) single nucleotide variant Uncertain significance rs574361484 GRCh37 Chromosome 8, 21978728: 21978728
36 HR NM_005144.4(HR): c.2212G> A (p.Asp738Asn) single nucleotide variant Uncertain significance rs886062807 GRCh38 Chromosome 8, 22121220: 22121220
37 HR NM_005144.4(HR): c.2212G> A (p.Asp738Asn) single nucleotide variant Uncertain significance rs886062807 GRCh37 Chromosome 8, 21978733: 21978733
38 HR NM_005144.4(HR): c.1907A> G (p.Glu636Gly) single nucleotide variant Uncertain significance rs75362423 GRCh38 Chromosome 8, 22123657: 22123657
39 HR NM_005144.4(HR): c.1907A> G (p.Glu636Gly) single nucleotide variant Uncertain significance rs75362423 GRCh37 Chromosome 8, 21981170: 21981170
40 HR NM_005144.4(HR): c.1858C> G (p.Arg620Gly) single nucleotide variant Uncertain significance rs200843097 GRCh38 Chromosome 8, 22123706: 22123706
41 HR NM_005144.4(HR): c.1858C> G (p.Arg620Gly) single nucleotide variant Uncertain significance rs200843097 GRCh37 Chromosome 8, 21981219: 21981219
42 HR NM_005144.4(HR): c.1360A> G (p.Ile454Val) single nucleotide variant Uncertain significance rs886062809 GRCh37 Chromosome 8, 21984595: 21984595
43 HR NM_005144.4(HR): c.1360A> G (p.Ile454Val) single nucleotide variant Uncertain significance rs886062809 GRCh38 Chromosome 8, 22127082: 22127082
44 HR NM_005144.4(HR): c.1305T> C (p.Phe435=) single nucleotide variant Benign rs12675745 GRCh37 Chromosome 8, 21984650: 21984650
45 HR NM_005144.4(HR): c.1305T> C (p.Phe435=) single nucleotide variant Benign rs12675745 GRCh38 Chromosome 8, 22127137: 22127137
46 HR NM_005144.4(HR): c.1276C> T (p.Pro426Ser) single nucleotide variant Uncertain significance rs151036296 GRCh37 Chromosome 8, 21984679: 21984679
47 HR NM_005144.4(HR): c.1276C> T (p.Pro426Ser) single nucleotide variant Uncertain significance rs151036296 GRCh38 Chromosome 8, 22127166: 22127166
48 HR NM_005144.4(HR): c.188C> G (p.Pro63Arg) single nucleotide variant Likely benign rs73549525 GRCh37 Chromosome 8, 21986496: 21986496
49 HR NM_005144.4(HR): c.188C> G (p.Pro63Arg) single nucleotide variant Likely benign rs73549525 GRCh38 Chromosome 8, 22128983: 22128983
50 HR NM_005144.4(HR): c.120G> A (p.Pro40=) single nucleotide variant Uncertain significance rs757776752 GRCh37 Chromosome 8, 21986564: 21986564

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 10.76 NCOR1 VDR
2 10.69 HDAC1 NCOR1 VDR
3 10.55 HDAC1 VDR
4 9.96 CYP27B1 VDR

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 Sin3 complex GO:0016580 8.96 HDAC1 NCOR1
2 RNA polymerase II transcription factor complex GO:0090575 8.8 MXD3 MXI1 VDR

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription, DNA-templated GO:0045892 9.65 HDAC1 HR MXD3 NCOR1 VDR
2 decidualization GO:0046697 9.46 CYP27B1 VDR
3 negative regulation of androgen receptor signaling pathway GO:0060766 9.43 HDAC1 NCOR1
4 negative regulation of transcription by RNA polymerase II GO:0000122 9.43 HDAC1 MXD3 MXI1 NCOR1 NR6A1 VDR
5 positive regulation of keratinocyte differentiation GO:0045618 9.4 CYP27B1 VDR
6 vitamin D metabolic process GO:0042359 9.37 CYP27B1 VDR
7 polyamine biosynthetic process GO:0006596 9.32 ODC1 SAT1
8 polyamine metabolic process GO:0006595 9.16 ODC1 SAT1
9 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 8.62 CYP27B1 VDR

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.76 HDAC1 HIST2H3PS2 HR MXD3 MXI1 NCOR1
2 transcription regulatory region sequence-specific DNA binding GO:0000976 9.13 HDAC1 HR VDR
3 transcription corepressor activity GO:0003714 8.92 HDAC1 HR MXI1 NCOR1

Sources for Atrichia with Papular Lesions

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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74 UMLS
75 UMLS via Orphanet
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