APL
MCID: ATR013
MIFTS: 43

Atrichia with Papular Lesions (APL)

Categories: Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Atrichia with Papular Lesions

MalaCards integrated aliases for Atrichia with Papular Lesions:

Name: Atrichia with Papular Lesions 57 11 58 73 28 12 5 43 14 38 71 75
Papular Atrichia 57 11 58 73 53
Apl 57 73
Congenital Atrichia 73

Characteristics:


Inheritance:

Autosomal recessive 58 57

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 11 DOID:0060689
OMIM® 57 209500
ICD10 31 L65.8
ICD10 via Orphanet 32 L65.8
UMLS via Orphanet 72 C1859592
Orphanet 58 ORPHA86819
MedGen 40 C1859592
SNOMED-CT via HPO 69 53602002 56558005
UMLS 71 C1859592

Summaries for Atrichia with Papular Lesions

Orphanet: 58 A rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities.

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 Hair follicle development: cytodifferentiation - part 3 of 3. Affiliated tissues include skin and thyroid, and related phenotypes are sparse hair and generalized papillary lesions

Disease Ontology: 11 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: 73 An autosomal recessive disease characterized by papillary lesions over most of the body and almost complete absence of hair.

Wikipedia: 75 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 191)
# Related Disease Score Top Affiliating Genes
1 alopecia universalis congenita 31.0 HR FOXN1
2 alopecia 30.4 KRT86 KRT83 HR FOXN1
3 hypotrichosis 7 29.6 LPAR6 LIPH KRT74 DSG4 CDSN
4 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 29.3 KRT86 KRT83 KRT74
5 hypotrichosis 28.2 LPAR6 LIPH KRT86 KRT83 KRT74 HR
6 acute promyelocytic leukemia 11.7
7 lipodystrophy, partial, acquired 11.1
8 leukemia 10.7
9 leukemia, acute myeloid 10.6
10 antiphospholipid syndrome 10.6
11 acute myeloid leukemia with recurrent genetic anomaly 10.6
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 10.3
18 autoimmune disease 10.3
19 systemic lupus erythematosus 1 10.3
20 disseminated intravascular coagulation 10.3
21 lupus erythematosus 10.2
22 palmoplantar keratosis 10.2
23 hypotrichosis 1 10.2 LIPH KRT74
24 thrombosis 10.2
25 ichthyosis 10.2
26 alopecia areata 1 10.2
27 vitamin d-dependent rickets, type 2a 10.2
28 hypophosphatemic rickets, x-linked recessive 10.2
29 hypophosphatemia 10.2
30 exanthem 10.2
31 common variable immunodeficiency 10.2
32 skin disease 10.2
33 erythrokeratoderma ''en cocardes'' 10.2
34 rare genetic skin disease 10.2
35 myelodysplastic syndrome 10.1
36 amyloidosis 10.1
37 anus benign neoplasm 10.1 LCOR H2AC18
38 diffuse alopecia areata 10.1 LIPH KRT86
39 hemiplegia 10.1
40 acute leukemia 10.1
41 primary agammaglobulinemia 10.1
42 chronic bilirubin encephalopathy 10.1
43 clouston syndrome 10.1
44 alopecia areata 10.1
45 alopecia, androgenetic, 1 10.0
46 androgenic alopecia 10.0
47 childhood acute lymphocytic leukemia 10.0
48 woolly hair, autosomal recessive 3 10.0 LPAR6 LIPH C3orf52
49 hypotrichosis simplex of the scalp 10.0 KRT74 CDSN
50 hypotrichosis simplex 10.0 LPAR6 LIPH DSG4

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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sparse hair 30 HP:0008070
2 generalized papillary lesions 30 HP:0007482

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin Nails Hair Hair:
hypotrichosis
hair follicles cystic

Skin Nails Hair Skin:
papillary lesions, generalized

Clinical features from OMIM®:

209500 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Atrichia with Papular Lesions:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.92 DSG4 FOXN1 HR LIPH

Drugs & Therapeutics for Atrichia with Papular Lesions

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

Cochrane evidence based reviews: 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 28 HR

Anatomical Context for Atrichia with Papular Lesions

Organs/tissues related to Atrichia with Papular Lesions:

MalaCards : Skin, Thyroid

Publications for Atrichia with Papular Lesions

Articles related to Atrichia with Papular Lesions:

(show top 50) (show all 104)
# 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. 62 57 5
12271294 2002
2
Identification of a genetic defect in the hairless gene in atrichia with papular lesions: evidence for phenotypic heterogeneity among inherited atrichias. 62 57 5
10205263 1999
3
Atrichia with papular lesions maps to 8p in the region containing the human hairless gene. 62 57 5
9880231 1998
4
Novel Hairless mutations in two kindreds with autosomal recessive papular atrichia. 53 62 5
10594736 1999
5
Nonsense mutations in the hairless gene underlie APL in five families of Pakistani origin. 62 57
17869066 2007
6
Compound heterozygous mutations in the hairless gene in atrichia with papular lesions. 62 57
12880440 2003
7
Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions. 62 57
11982770 2002
8
Variant 1859G-->A (Arg620Gln) of the "hairless" gene: absence of association with papular atrichia or androgenic alopecia. 62 57
11410842 2001
9
Androgenetic alopecia in heterozygous carriers of a mutation in the human hairless gene. 62 57
10827399 2000
10
A homozygous nonsense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia. 62 5
10469319 1999
11
Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family. 62 5
10051399 1999
12
Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene. 62 5
9856480 1998
13
Atrichia with papular lesions: successful genetic counselling about having a child. 62 5
9892925 1998
14
A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers. 62 57
9758627 1998
15
Atrichia with papular lesions. 62 57
13763141 1961
16
Atrichia with papular lesions; a variant of congenital ectodermal dysplasia. 62 57
13150805 1954
17
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
18
The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach. 53 62
11966690 2002
19
Atrichia with papular lesions: a differential diagnosis of alopecia universalis not to be missed. 62
34169584 2021
20
Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families. 62
32020700 2020
21
Congenital atrichia with papular lesions. 62
32621683 2020
22
Atrichia with papular lesions: A case report. 62
35154764 2020
23
Expert consensus on the management of Telogen Effluvium in India. 62
31360038 2019
24
Atrichia with Papular Lesions: Importance of Histology at an Early Disease Stage. 62
30197886 2018
25
Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia. 62
29589644 2018
26
Congenital Hypotrichosis and Congenital Atrichia. 62
29551108 2018
27
Transgenic mice display hair loss and regrowth overexpressing mutant Hr gene. 62
28679963 2017
28
Rare Presentation of Alopecia Universalis Congenita and Twenty-nail Dystrophy in Siblings. 62
28839389 2017
29
Disease causing homozygous variants in the human hairless gene. 62
26680117 2016
30
Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia. 62
25708316 2015
31
Unusual presentation of atrichia with papular lesions. 62
25657443 2015
32
Congenital atrichia associated with nevus flammeus: A rare association. 62
25396133 2014
33
Hairless is a histone H3K9 demethylase. 62
24334705 2014
34
Identification of novel mutation in the HR gene responsible for atrichia with papular lesions in a Pakistani family. 62
24111842 2013
35
Hairless and the polyamine putrescine form a negative regulatory loop in the epidermis. 62
24079733 2013
36
Photoletter to the editor: Congenital atrichia associated with an uncommon mutation of HR gene. 62
23580910 2013
37
Atrichia with papular lesions in a chinese family caused by novel compound heterozygous mutations and literature review. 62
23548463 2013
38
Hairless and NFκB form a positive feedback loop after UVB and TNFα stimulation. 62
22329811 2012
39
Congenital atrichia associated with situs inversus and mesocardia. 62
23180933 2012
40
Mechanism of JmjC-containing protein Hairless in the regulation of vitamin D receptor function. 62
21982945 2011
41
Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay. 62
21718278 2011
42
Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families. 62
21919222 2011
43
Atrichia with papular lesions. 62
22223974 2011
44
Detection of a novel missense mutations in atrichia with papular lesions. 62
21747609 2011
45
Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome. 62
21426410 2011
46
Congenital atrichia and hypotrichosis. 62
21574026 2011
47
Identification of a new mutation in the gene coding for hairless protein responsible for alopecia universalis: The importance of direct gene sequencing. 62
21272494 2011
48
[Congenital atrichia with cysts in two sisters]. 62
18819783 2008
49
Mutations in the hairless gene underlie APL in three families of Pakistani origin. 62
18164595 2008
50
Atrichia with papular lesions: a report of three novel human hairless gene mutations and a revision of diagnostic criteria. 62
18709303 2008

Variations for Atrichia with Papular Lesions

ClinVar genetic disease variations for Atrichia with Papular Lesions:

5 (show top 50) (show all 171)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HR NM_005144.5(HR):c.1837C>T (p.Arg613Ter) SNV Pathogenic
7335 rs121434449 GRCh37: 8:21981240-21981240
GRCh38: 8:22123727-22123727
2 HR NM_005144.5(HR):c.3526C>T (p.Gln1176Ter) SNV Pathogenic
7339 rs121434450 GRCh37: 8:21973257-21973257
GRCh38: 8:22115744-22115744
3 HR NM_005144.5(HR):c.2001_2004del (p.Ser667fs) MICROSAT Pathogenic
667396 rs1477806230 GRCh37: 8:21980304-21980307
GRCh38: 8:22122791-22122794
4 HR NM_005144.5(HR):c.2847-2_2847-1del DEL Pathogenic
7338 GRCh37: 8:21977404-21977405
GRCh38: 8:22119891-22119892
5 HR NM_005144.5(HR):c.2147del (p.Pro716fs) DEL Pathogenic
1075245 GRCh37: 8:21979182-21979182
GRCh38: 8:22121669-22121669
6 HR NM_005144.5(HR):c.1258del (p.Gln420fs) DEL Pathogenic
7334 GRCh37: 8:21984697-21984697
GRCh38: 8:22127184-22127184
7 HR NM_005144.5(HR):c.1258del (p.Gln420fs) DEL Pathogenic
7336 GRCh37: 8:21984697-21984697
GRCh38: 8:22127184-22127184
8 HR NM_005144.5(HR):c.1527G>A (p.Gly509=) SNV Uncertain Significance
731608 rs73549518 GRCh37: 8:21983124-21983124
GRCh38: 8:22125611-22125611
9 HR NM_005144.5(HR):c.*746C>G SNV Uncertain Significance
911827 rs952402423 GRCh37: 8:21972467-21972467
GRCh38: 8:22114954-22114954
10 HR NM_005144.5(HR):c.*76G>T SNV Uncertain Significance
911889 rs769096804 GRCh37: 8:21973137-21973137
GRCh38: 8:22115624-22115624
11 HR NM_005144.5(HR):c.3228G>A (p.Gly1076=) SNV Uncertain Significance
911929 rs570553679 GRCh37: 8:21974538-21974538
GRCh38: 8:22117025-22117025
12 HR NM_005144.5(HR):c.3221C>T (p.Pro1074Leu) SNV Uncertain Significance
911930 rs376198743 GRCh37: 8:21974545-21974545
GRCh38: 8:22117032-22117032
13 HR NM_005144.5(HR):c.970C>T (p.Arg324Trp) SNV Uncertain Significance
362526 rs143170974 GRCh37: 8:21984985-21984985
GRCh38: 8:22127472-22127472
14 HR NM_005144.5(HR):c.1618G>A (p.Glu540Lys) SNV Uncertain Significance
908090 rs772984704 GRCh37: 8:21982956-21982956
GRCh38: 8:22125443-22125443
15 HR NM_005144.5(HR):c.1584G>A (p.Gln528=) SNV Uncertain Significance
908091 rs1826862480 GRCh37: 8:21982990-21982990
GRCh38: 8:22125477-22125477
16 HR NM_005144.5(HR):c.1440G>A (p.Pro480=) SNV Uncertain Significance
908154 rs761705307 GRCh37: 8:21983211-21983211
GRCh38: 8:22125698-22125698
17 HR NM_005144.5(HR):c.1934C>A (p.Ala645Glu) SNV Uncertain Significance
909986 rs770986202 GRCh37: 8:21980374-21980374
GRCh38: 8:22122861-22122861
18 HR NM_005144.5(HR):c.1575G>A (p.Glu525=) SNV Uncertain Significance
910042 rs557921105 GRCh37: 8:21982999-21982999
GRCh38: 8:22125486-22125486
19 HR NM_005144.5(HR):c.1571G>A (p.Gly524Glu) SNV Uncertain Significance
910043 rs780702208 GRCh37: 8:21983003-21983003
GRCh38: 8:22125490-22125490
20 HR NM_005144.5(HR):c.1557-10C>T SNV Uncertain Significance
910044 rs773678343 GRCh37: 8:21983027-21983027
GRCh38: 8:22125514-22125514
21 HR NM_005144.5(HR):c.293G>A (p.Arg98His) SNV Uncertain Significance
910179 rs765212418 GRCh37: 8:21986391-21986391
GRCh38: 8:22128878-22128878
22 HR, HRURF NM_005144.5(HR):c.-380C>T SNV Uncertain Significance
910247 rs574717314 GRCh37: 8:21988280-21988280
GRCh38: 8:22130767-22130767
23 HR NM_005144.5(HR):c.*904C>T SNV Uncertain Significance
909672 rs140387885 GRCh37: 8:21972309-21972309
GRCh38: 8:22114796-22114796
24 HR NM_005144.5(HR):c.*885C>T SNV Uncertain Significance
910600 rs747270204 GRCh37: 8:21972328-21972328
GRCh38: 8:22114815-22114815
25 HR NM_005144.5(HR):c.3309C>T (p.Gly1103=) SNV Uncertain Significance
910708 rs558767137 GRCh37: 8:21974457-21974457
GRCh38: 8:22116944-22116944
26 HR NM_005144.5(HR):c.877G>A (p.Val293Ile) SNV Uncertain Significance
908228 rs377478562 GRCh37: 8:21985078-21985078
GRCh38: 8:22127565-22127565
27 HR NM_005144.5(HR):c.639T>A (p.Ile213=) SNV Uncertain Significance
908229 rs1826939895 GRCh37: 8:21985316-21985316
GRCh38: 8:22127803-22127803
28 HR NM_005144.5(HR):c.550C>A (p.His184Asn) SNV Uncertain Significance
908230 rs1386369352 GRCh37: 8:21986134-21986134
GRCh38: 8:22128621-22128621
29 HR NM_005144.5(HR):c.-40-14T>C SNV Uncertain Significance
908292 rs1826988339 GRCh37: 8:21986737-21986737
GRCh38: 8:22129224-22129224
30 HR, HRURF NM_005144.5(HR):c.-106G>A SNV Uncertain Significance
908293 rs954781373 GRCh37: 8:21988006-21988006
GRCh38: 8:22130493-22130493
31 HR NM_005144.5(HR):c.*1253T>C SNV Uncertain Significance
908818 rs556731235 GRCh37: 8:21971960-21971960
GRCh38: 8:22114447-22114447
32 HR NM_005144.5(HR):c.*1145C>T SNV Uncertain Significance
908819 rs931452724 GRCh37: 8:21972068-21972068
GRCh38: 8:22114555-22114555
33 HR NM_005144.5(HR):c.*1125C>T SNV Uncertain Significance
908820 rs536860310 GRCh37: 8:21972088-21972088
GRCh38: 8:22114575-22114575
34 HR NM_005144.5(HR):c.*617G>C SNV Uncertain Significance
908875 rs762261958 GRCh37: 8:21972596-21972596
GRCh38: 8:22115083-22115083
35 HR NM_005144.5(HR):c.2522C>T (p.Pro841Leu) SNV Uncertain Significance
909069 rs1350342566 GRCh37: 8:21978317-21978317
GRCh38: 8:22120804-22120804
36 HR NM_005144.5(HR):c.2104G>A (p.Gly702Arg) SNV Uncertain Significance
909139 rs138941448 GRCh37: 8:21980023-21980023
GRCh38: 8:22122510-22122510
37 HR NM_005144.5(HR):c.*1054C>T SNV Uncertain Significance
909670 rs1826540489 GRCh37: 8:21972159-21972159
GRCh38: 8:22114646-22114646
38 HR NM_005144.5(HR):c.*1020C>A SNV Uncertain Significance
909671 rs775595076 GRCh37: 8:21972193-21972193
GRCh38: 8:22114680-22114680
39 HR NM_005144.5(HR):c.*579C>T SNV Uncertain Significance
908877 rs558662312 GRCh37: 8:21972634-21972634
GRCh38: 8:22115121-22115121
40 HR NM_005144.5(HR):c.*420C>T SNV Uncertain Significance
909736 rs763478016 GRCh37: 8:21972793-21972793
GRCh38: 8:22115280-22115280
41 HR NM_005144.5(HR):c.*295G>A SNV Uncertain Significance
909737 rs1044334227 GRCh37: 8:21972918-21972918
GRCh38: 8:22115405-22115405
42 HR NM_005144.5(HR):c.3406G>A (p.Val1136Ile) SNV Uncertain Significance
909807 rs767952839 GRCh37: 8:21973914-21973914
GRCh38: 8:22116401-22116401
43 HR NM_005144.5(HR):c.2993G>A (p.Arg998Gln) SNV Uncertain Significance
909871 rs138875411 GRCh37: 8:21976781-21976781
GRCh38: 8:22119268-22119268
44 HR NM_005144.5(HR):c.2953G>A (p.Glu985Lys) SNV Uncertain Significance
909872 rs374297416 GRCh37: 8:21977297-21977297
GRCh38: 8:22119784-22119784
45 HR NM_005144.5(HR):c.2412G>C (p.Val804=) SNV Uncertain Significance
909922 rs758753031 GRCh37: 8:21978427-21978427
GRCh38: 8:22120914-22120914
46 HR NM_005144.5(HR):c.2828G>A (p.Gly943Glu) SNV Uncertain Significance
910767 rs200414215 GRCh37: 8:21977635-21977635
GRCh38: 8:22120122-22120122
47 HR NM_005144.5(HR):c.2776+4A>G SNV Uncertain Significance
910768 rs1161532958 GRCh37: 8:21977851-21977851
GRCh38: 8:22120338-22120338
48 HR NM_005144.5(HR):c.2355G>A (p.Pro785=) SNV Uncertain Significance
910822 rs151306827 GRCh37: 8:21978590-21978590
GRCh38: 8:22121077-22121077
49 HR NM_005144.5(HR):c.2354C>T (p.Pro785Leu) SNV Uncertain Significance
910823 rs140534514 GRCh37: 8:21978591-21978591
GRCh38: 8:22121078-22121078
50 HR NM_005144.5(HR):c.2347G>T (p.Val783Phe) SNV Uncertain Significance
910824 rs766897426 GRCh37: 8:21978598-21978598
GRCh38: 8:22121085-22121085

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
11.56 KRT86 KRT83 KRT74 DSG4 CDSN
2 10.69 FOXN1 DSG4

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 desmosome GO:0030057 9.13 DSG4 CDSN
2 keratin filament GO:0045095 9.1 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 epidermis development GO:0008544 9.65 KRT83 FOXN1 CDSN
2 keratinization GO:0031424 9.63 KRT86 KRT83 KRT74
3 intermediate filament organization GO:0045109 9.43 KRT86 KRT83 KRT74
4 keratinocyte differentiation GO:0030216 9.02 FOXN1 DSG4 CDSN

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of skin epidermis GO:0030280 9.1 KRT86 KRT83 KRT74

Sources for Atrichia with Papular Lesions

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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