APL
MCID: ATR013
MIFTS: 38

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 59 75 37 29 13 6 15 40 73
Papular Atrichia 57 12 59 75 55
Apl 57 12 75
Congenital Atrichia 75

Characteristics:

Orphanet epidemiological data:

59
atrichia with papular lesions
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
atrichia with papular lesions:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 209500
Disease Ontology 12 DOID:0060689
ICD10 33 L65.8
Orphanet 59 ORPHA86819
ICD10 via Orphanet 34 L65.8
UMLS via Orphanet 74 C1859592
MedGen 42 C1859592
MeSH 44 D000505
KEGG 37 H00780
SNOMED-CT via HPO 69 258211005 53602002 56558005
UMLS 73 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 and acute promyelocytic leukemia. 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 Glucose / Energy Metabolism and Citrate cycle (TCA cycle). Affiliated tissues include skin, thyroid and t cells, and related phenotypes are hypotrichosis and generalized papillary lesions

UniProtKB/Swiss-Prot : 75 Atrichia with papular lesions: An autosomal recessive disease characterized by papillary lesions over most of the body and almost complete absence of hair.

Wikipedia : 76 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 all 43)
# Related Disease Score Top Affiliating Genes
1 alopecia 30.3 HR VDR
2 acute promyelocytic leukemia 12.2
3 antiphospholipid syndrome 11.4
4 sneddon syndrome 11.2
5 lipodystrophy, partial, acquired 11.2
6 marie unna congenital hypotrichosis 11.1
7 leukemia 10.7
8 systemic lupus erythematosus 10.2
9 lupus erythematosus 10.2
10 alopecia universalis congenita 10.1
11 ectodermal dysplasia 10.1
12 androgenic alopecia 10.1
13 hypotrichosis 10.1
14 achondroplasia 10.0
15 ichthyosis 10.0
16 palmoplantar keratosis 10.0
17 situs inversus 10.0
18 ichthyosis follicularis atrichia photophobia syndrome 10.0
19 kid syndrome 10.0
20 mesocardia 10.0
21 hair disease 9.9 SAT1 VDR
22 phosphatase, acid, of tissues 9.9
23 rheumatoid arthritis 9.9
24 acid phosphatase deficiency 9.9
25 intracranial hypertension, idiopathic 9.9
26 stroke, ischemic 9.9
27 leukemia, acute myeloid 9.9
28 polyarteritis nodosa, childhood-onset 9.9
29 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 9.9
30 acute leukemia 9.9
31 crohn's disease 9.9
32 hematopoietic stem cell transplantation 9.9
33 mantle cell lymphoma 9.9
34 severe combined immunodeficiency 9.9
35 lymphoma 9.9
36 thrombosis 9.9
37 thrombophilia 9.9
38 combined t cell and b cell immunodeficiency 9.9
39 connective tissue disease 9.9
40 cerebrovascular disease 9.9
41 myeloid leukemia 9.9
42 gestational trophoblastic tumor 9.9
43 acrocallosal syndrome 9.8 ACLY APOH

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

Symptoms via clinical synopsis from OMIM:

57
Skin:
hypotrichosis
hair follicles cystic
papillary lesions, generalized


Clinical features from OMIM:

209500

Human phenotypes related to Atrichia with Papular Lesions:

32
# Description HPO Frequency HPO Source Accession
1 hypotrichosis 32 HP:0001006
2 generalized papillary lesions 32 HP:0007482

MGI Mouse Phenotypes related to Atrichia with Papular Lesions:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.35 ACP2 ASPRV1 HDAC1 HR VDR
2 neoplasm MP:0002006 8.92 HDAC1 HR PKM SAT1

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:

41
Skin, Thyroid, T Cells, B Cells, Myeloid

Publications for Atrichia with Papular Lesions

Articles related to Atrichia with Papular Lesions:

(show all 38)
# 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
Identification of novel mutation in the HR gene responsible for atrichia with papular lesions in a Pakistani family. ( 24111842 )
2013
5
Atrichia with papular lesions in a chinese family caused by novel compound heterozygous mutations and literature review. ( 23548463 )
2013
6
Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families. ( 21919222 )
2011
7
Atrichia with papular lesions. ( 22223974 )
2011
8
Detection of a novel missense mutations in atrichia with papular lesions. ( 21747609 )
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
Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene. ( 16211417 )
2005
14
Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions. ( 15953070 )
2005
15
Identification of a novel splice site mutation in the human hairless gene underlying atrichia with papular lesions. ( 16172039 )
2005
16
Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesions. ( 16023329 )
2005
17
Interaction of hairless and thyroid hormone receptor is not involved in the pathogenesis of atrichia with papular lesions. ( 15086341 )
2004
18
Compound heterozygous mutations in the hairless gene in atrichia with papular lesions. ( 12880440 )
2003
19
Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene. ( 12950347 )
2003
20
Compound heterozygosity for mutations in the hairless gene causes atrichia with papular lesions. ( 12653749 )
2003
21
Atrichia with papular lesions resulting from mutations in the rhesus macaque (Macaca mulatta) hairless gene. ( 11831740 )
2002
22
Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions. ( 11982770 )
2002
23
Evidence for pseudodominant inheritance of atrichia with papular lesions. ( 11982769 )
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
Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions. ( 11886538 )
2001
26
Atrichia with papular lesions: electron microscopic observations of cystic lesions. ( 11391105 )
2001
27
Guess what! Atrichia with papular lesions. ( 11458925 )
2001
28
Ornithine decarboxylase transgenic mice as a model for human atrichia with papular lesions. ( 10772389 )
2000
29
A novel missense mutation (C622G) in the zinc-finger domain of the human hairless gene associated with congenital atrichia with papular lesions. ( 10772391 )
2000
30
Identification of a genetic defect in the hairless gene in atrichia with papular lesions: evidence for phenotypic heterogeneity among inherited atrichias. ( 10205263 )
1999
31
Atrichia with papular lesions resulting from a nonsense mutation within the human hairless gene. ( 10504459 )
1999
32
Atrichia with papular lesions maps to 8p in the region containing the human hairless gene. ( 9880231 )
1998
33
Atrichia with papular lesions: successful genetic counselling about having a child. ( 9892925 )
1998
34
Atrichia with papular lesions. ( 3707174 )
1986
35
Atrichia with papular lesions associated with gastrointestinal polyposis. ( 381346 )
1979
36
Atrichia with papular lesions and mental retardation in two sisters. ( 4418335 )
1974
37
Atrichia with papular lesions. ( 13763141 )
1961
38
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 GRCh37 Chromosome 8, 21972462: 21972462
13 HR NM_005144.4(HR): c.*751G> C single nucleotide variant Uncertain significance rs777189827 GRCh38 Chromosome 8, 22114949: 22114949
14 HR NM_005144.4(HR): c.*734G> A single nucleotide variant Uncertain significance rs536800865 GRCh37 Chromosome 8, 21972479: 21972479
15 HR NM_005144.4(HR): c.*734G> A single nucleotide variant Uncertain significance rs536800865 GRCh38 Chromosome 8, 22114966: 22114966
16 HR NM_005144.4(HR): c.*303G> A single nucleotide variant Uncertain significance rs181310087 GRCh37 Chromosome 8, 21972910: 21972910
17 HR NM_005144.4(HR): c.*303G> A single nucleotide variant Uncertain significance rs181310087 GRCh38 Chromosome 8, 22115397: 22115397
18 HR NM_005144.4(HR): c.*240C> A single nucleotide variant Benign rs6994872 GRCh37 Chromosome 8, 21972973: 21972973
19 HR NM_005144.4(HR): c.*240C> A single nucleotide variant Benign rs6994872 GRCh38 Chromosome 8, 22115460: 22115460
20 HR NM_005144.4(HR): c.*218T> C single nucleotide variant Likely benign rs74869265 GRCh37 Chromosome 8, 21972995: 21972995
21 HR NM_005144.4(HR): c.*218T> C single nucleotide variant Likely benign rs74869265 GRCh38 Chromosome 8, 22115482: 22115482
22 HR NM_005144.4(HR): c.*185C> G single nucleotide variant Uncertain significance rs886062804 GRCh37 Chromosome 8, 21973028: 21973028
23 HR NM_005144.4(HR): c.*185C> G single nucleotide variant Uncertain significance rs886062804 GRCh38 Chromosome 8, 22115515: 22115515
24 HR NM_005144.4(HR): c.*180G> A single nucleotide variant Uncertain significance rs564901808 GRCh37 Chromosome 8, 21973033: 21973033
25 HR NM_005144.4(HR): c.*180G> A single nucleotide variant Uncertain significance rs564901808 GRCh38 Chromosome 8, 22115520: 22115520
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 GRCh37 Chromosome 8, 21981170: 21981170
39 HR NM_005144.4(HR): c.1907A> G (p.Glu636Gly) single nucleotide variant Uncertain significance rs75362423 GRCh38 Chromosome 8, 22123657: 22123657
40 HR NM_005144.4(HR): c.1858C> G (p.Arg620Gly) single nucleotide variant Uncertain significance rs200843097 GRCh37 Chromosome 8, 21981219: 21981219
41 HR NM_005144.4(HR): c.1858C> G (p.Arg620Gly) single nucleotide variant Uncertain significance rs200843097 GRCh38 Chromosome 8, 22123706: 22123706
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

GO Terms for Atrichia with Papular Lesions

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

# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region sequence-specific DNA binding GO:0000976 8.8 HDAC1 HR VDR

Sources for Atrichia with Papular Lesions

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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