MCID: ADR038
MIFTS: 37

Adermatoglyphia

Categories: Genetic diseases, Rare diseases, Fetal diseases, Skin diseases

Aliases & Classifications for Adermatoglyphia

MalaCards integrated aliases for Adermatoglyphia:

Name: Adermatoglyphia 54 50 25 71 29 13
Immigration Delay Disease 50 25 56 71
Absence of Fingerprints 50 25 71
Aderm 50 25 71
Isolated Congenital Adermatoglyphia 50 56
Congenital Absence of Fingerprints 50 56
Skin Abnormalities 42 69
Adg 50 25

Characteristics:

Orphanet epidemiological data:

56
isolated congenital adermatoglyphia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
adermatoglyphia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 136000
Orphanet 56 ORPHA289465
ICD10 via Orphanet 34 Q82.8
MeSH 42 D012868
SNOMED-CT via HPO 65 263681008 367004

Summaries for Adermatoglyphia

NIH Rare Diseases : 50 adermatoglyphia is a rare condition that is characterized by the lack of ridges on the skin of the fingers, toes, palms of the hand and soles of the feet. because the pattern of these ridges form each person's unique fingerprints, people with this condition are not able to be identified by their fingerprints. in some cases, adermatoglyphia may occur without any additional signs or symptoms; however, it may be associated with other skin abnormalities including small white bumps on the face, blistering of the skin, and/or a reduced number of sweat glands on the hands and feet. adermatoglyphia is caused by changes (mutations) in the smarcad1 gene and is inherited in an autosomal dominant manner. treatment is typically only necessary if other features are present. last updated: 5/4/2015

MalaCards based summary : Adermatoglyphia, also known as immigration delay disease, is related to basan syndrome and congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, and has symptoms including clubbing, palmar hyperkeratosis and exanthema. An important gene associated with Adermatoglyphia is SMARCAD1 (SWI/SNF-Related, Matrix-Associated Actin-Dependent Regulator Of Chromatin, Subfamily A, Containing DEAD/H Box 1), and among its related pathways/superpathways are BRCA1 Pathway and Regulation of Telomerase. Affiliated tissues include skin and breast, and related phenotype is neoplasm.

UniProtKB/Swiss-Prot : 71 Adermatoglyphia: An autosomal dominant condition characterized by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints, and is associated with a reduced number of sweat gland openings and reduced sweating of palms and soles.

Genetics Home Reference : 25 Adermatoglyphia is the absence of ridges on the skin on the pads of the fingers and toes, as well as on the palms of the hands and soles of the feet. The patterns of these ridges (called dermatoglyphs) form whorls, arches, and loops that are the basis for each person's unique fingerprints. Because no two people have the same patterns, fingerprints have long been used as a way to identify individuals. However, people with adermatoglyphia do not have these ridges, and so they cannot be identified by their fingerprints. Adermatoglyphia has been called the "immigration delay disease" because affected individuals have had difficulty entering countries that require fingerprinting for identification.

OMIM : 54
Adermatoglyphia is characterized by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints, and is associated with a reduced number of sweat gland openings and reduced sweating of palms and soles (summary by Nousbeck et al., 2011). Basan syndrome (129200), a form of adermatoglyphia associated with congenital facial milia, acral blistering, digital contractures, and nail abnormalities, is also caused by mutation in SMARCAD1. Also see Naegeli-Franceschetti-Jadassohn syndrome (NFJS; 161000) and dermatopathia pigmentosa reticularis (DPR; 125595), 2 closely related autosomal dominant ectodermal dysplasia syndromes that clinically share complete absence of dermatoglyphics and are caused by heterozygous nonsense or frameshift mutations in the KRT14 gene (148066). (136000)

Wikipedia : 72 Adermatoglyphia is an extremely rare genetic disorder which causes a person to have no fingerprints.... more...

Related Diseases for Adermatoglyphia

Diseases related to Adermatoglyphia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
id Related Disease Score Top Affiliating Genes
1 basan syndrome 28.1 APOC1 BLM DKC1 KRT14 LOR SMARCAD1
2 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome 11.8
3 absence of fingerprints congenital milia 10.8
4 dermatopathia pigmentosa reticularis 10.8
5 moved to 251300 10.7
6 galloway-mowat syndrome 10.7
7 spinocerebellar ataxia autosomal recessive 5 10.7
8 focal dermal hypoplasia 10.7
9 tuberous sclerosis 10.5
10 beare-stevenson cutis gyrata syndrome 10.5
11 cardiofaciocutaneous syndrome 2 10.5
12 rabson-mendenhall syndrome 10.5
13 kid syndrome 10.5
14 cardiofaciocutaneous syndrome 10.3
15 rothmund-thomson syndrome 10.3
16 chondrodysplasia punctata, x-linked dominant 10.3
17 bart-pumphrey syndrome 10.3
18 leprechaunism 10.3
19 mixed connective tissue disease 10.3
20 vohwinkel syndrome 10.3
21 greenberg skeletal dysplasia 10.3
22 keratoderma, palmoplantar, with deafness 10.3
23 anthrax disease 10.3
24 ichthyosis, congenital, autosomal recessive 4b 10.3
25 keratitis-ichthyosis-deafness syndrome 10.3
26 lig4 syndrome 10.3
27 cryoglobulinemia, familial mixed 10.3
28 barber-say syndrome 10.3
29 cardiofaciocutaneous syndrome 3 10.3
30 cutaneous-skeletal hypophosphatemia syndrome 10.3
31 muscular dystrophy, congenital, davignon-chauveau type 10.3
32 clove syndrome, somatic 10.3
33 chromosome 19q13.11 deletion syndrome 10.3
34 saddan 10.3
35 pten hamartoma tumor syndrome 10.3
36 carney complex, type 1 10.3
37 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 10.3
38 adenomatous polyposis coli 10.3
39 ichthyosis vulgaris 9.9 KRT14 LOR
40 rapadilino syndrome 9.9 BLM WRN
41 alzheimer disease 12 9.9 BLM WRN
42 breast cancer 9.8
43 dyschromatosis universalis hereditaria 9.8
44 adult syndrome 9.8
45 dyschromatosis universalis 9.8
46 kindler syndrome 9.8
47 alzheimer disease 18 9.7 DKC1 KRT14
48 arthrogryposis, renal dysfunction, and cholestasis 1 9.6 BLM WRN
49 ptosis 9.5 DKC1 KRT14
50 corneal dystrophy 9.3

Graphical network of the top 20 diseases related to Adermatoglyphia:



Diseases related to Adermatoglyphia

Symptoms & Phenotypes for Adermatoglyphia

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Nails:
fingernail pterygia (rare)
slight clubbing

Skin Nails & Hair- Skin Histology:
reduced number of sweat glands in palms and soles

Skin Nails & Hair- Skin:
calluses on weight-bearing areas of soles
mild hyperkeratosis of palms
reduced sweating of palms and soles
epidermal ridges absent from palms and soles
difficulty grasping or holding objects


Clinical features from OMIM:

136000

Human phenotypes related to Adermatoglyphia:

32
id Description HPO Frequency HPO Source Accession
1 adermatoglyphia 32 HP:0007455
2 clubbing 32 HP:0001217
3 palmar hyperkeratosis 32 HP:0010765

UMLS symptoms related to Adermatoglyphia:


exanthema, pruritus

MGI Mouse Phenotypes related to Adermatoglyphia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.92 BLM DKC1 KRT14 WRN

Drugs & Therapeutics for Adermatoglyphia

Search Clinical Trials , NIH Clinical Center for Adermatoglyphia

Cochrane evidence based reviews: skin abnormalities

Genetic Tests for Adermatoglyphia

Genetic tests related to Adermatoglyphia:

id Genetic test Affiliating Genes
1 Adermatoglyphia 29

Anatomical Context for Adermatoglyphia

MalaCards organs/tissues related to Adermatoglyphia:

39
Skin, Breast

Publications for Adermatoglyphia

Articles related to Adermatoglyphia:

id Title Authors Year
1
Capecitabine-Associated Loss of Fingerprints: Report of Capecitabine-Induced Adermatoglyphia in Two Women with Breast Cancer and Review of Acquired Dermatoglyphic Absence in Oncology Patients Treated with Capecitabine. ( 28191373 )
2017
2
Capecitabine and adermatoglyphia: trouble in border! ( 27859657 )
2016
3
Is adermatoglyphia an additional feature of Kindler Syndrome? ( 26375235 )
2015
4
A case of dyschromatosis universalis hereditaria with adermatoglyphia: A rare association. ( 25821732 )
2015
5
Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes. ( 24909267 )
2014
6
A mutation in a skin-specific isoform of SMARCAD1 causes autosomal- dominant adermatoglyphia. ( 21820097 )
2011
7
The immigration delay disease: adermatoglyphia-inherited absence of epidermal ridges. ( 20619487 )
2011
8
Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome. ( 20814947 )
2010

Variations for Adermatoglyphia

ClinVar genetic disease variations for Adermatoglyphia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SMARCAD1 NM_001128430.1(SMARCAD1): c.1281+665G> T single nucleotide variant Pathogenic rs1057519613 GRCh38 Chromosome 4, 94253672: 94253672
2 SMARCAD1 NM_001128430.1(SMARCAD1): c.1281+669G> C single nucleotide variant Pathogenic rs1114167277 GRCh38 Chromosome 4, 94253676: 94253676
3 SMARCAD1 NM_001128430.1(SMARCAD1): c.1281+665G> A single nucleotide variant Pathogenic rs1057519613 GRCh38 Chromosome 4, 94253672: 94253672
4 SMARCAD1 NM_001128430.1(SMARCAD1): c.1281+666T> C single nucleotide variant Pathogenic rs1114167276 GRCh38 Chromosome 4, 94253673: 94253673

Expression for Adermatoglyphia

Search GEO for disease gene expression data for Adermatoglyphia.

Pathways for Adermatoglyphia

Pathways related to Adermatoglyphia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.87 BLM SMARCAD1
2 10.62 BLM DKC1 WRN

GO Terms for Adermatoglyphia

Cellular components related to Adermatoglyphia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nuclear matrix GO:0016363 9.16 BLM SMARCAD1
2 chromosome, telomeric region GO:0000781 8.96 BLM WRN
3 replication fork GO:0005657 8.62 BLM WRN

Biological processes related to Adermatoglyphia according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.69 BLM SMARCAD1 WRN
2 DNA repair GO:0006281 9.65 BLM SMARCAD1 WRN
3 DNA recombination GO:0006310 9.52 BLM WRN
4 double-strand break repair via homologous recombination GO:0000724 9.49 BLM WRN
5 DNA duplex unwinding GO:0032508 9.46 BLM WRN
6 DNA synthesis involved in DNA repair GO:0000731 9.43 BLM WRN
7 replication fork processing GO:0031297 9.4 BLM WRN
8 strand displacement GO:0000732 9.37 BLM WRN
9 DNA double-strand break processing GO:0000729 9.32 BLM SMARCAD1
10 cellular metabolic process GO:0044237 9.26 BLM WRN
11 t-circle formation GO:0090656 9.16 BLM WRN
12 telomeric D-loop disassembly GO:0061820 8.96 BLM WRN
13 G-quadruplex DNA unwinding GO:0044806 8.62 BLM WRN

Molecular functions related to Adermatoglyphia according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 helicase activity GO:0004386 9.65 BLM SMARCAD1 WRN
2 structural constituent of cytoskeleton GO:0005200 9.54 KRT14 LOR
3 ATP-dependent DNA helicase activity GO:0004003 9.52 BLM WRN
4 DNA helicase activity GO:0003678 9.51 BLM WRN
5 four-way junction DNA binding GO:0000400 9.49 BLM WRN
6 ATP-dependent helicase activity GO:0008026 9.46 BLM WRN
7 bubble DNA binding GO:0000405 9.43 BLM WRN
8 G-quadruplex DNA binding GO:0051880 9.4 BLM WRN
9 ATP-dependent 3-5 DNA helicase activity GO:0043140 9.37 BLM WRN
10 Y-form DNA binding GO:0000403 9.32 BLM WRN
11 four-way junction helicase activity GO:0009378 9.26 BLM WRN
12 telomeric D-loop binding GO:0061821 9.16 BLM WRN
13 8-hydroxy-2-deoxyguanosine DNA binding GO:1905773 8.96 BLM WRN
14 forked DNA-dependent helicase activity GO:0061749 8.62 BLM WRN

Sources for Adermatoglyphia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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