MCID: ADR038
MIFTS: 40

Adermatoglyphia

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

Aliases & Classifications for Adermatoglyphia

MalaCards integrated aliases for Adermatoglyphia:

Name: Adermatoglyphia 53 49 24 71 28 13
Immigration Delay Disease 49 24 55 71
Aderm 53 49 24 71
Absence of Fingerprints 49 24 71
Isolated Congenital Adermatoglyphia 49 55
Congenital Absence of Fingerprints 49 55
Skin Abnormalities 41 69
Adg 49 24
Fingerprints, Absence of 53

Characteristics:

Orphanet epidemiological data:

55
isolated congenital adermatoglyphia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
adermatoglyphia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 136000
Orphanet 55 ORPHA289465
ICD10 via Orphanet 33 Q82.8
MeSH 41 D012868
SNOMED-CT via HPO 65 263681008 367004
UMLS 69 C0037268

Summaries for Adermatoglyphia

NIH Rare Diseases : 49 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 rothmund-thomson syndrome and basan syndrome, and has symptoms including clubbing, palmar hyperkeratosis and pruritus. 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.

OMIM : 53 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)

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 : 24 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.

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)
# Related Disease Score Top Affiliating Genes
1 rothmund-thomson syndrome 30.5 BLM WRN
2 basan syndrome 11.7
3 muscular dystrophy, congenital, davignon-chauveau type 11.3
4 spinocerebellar ataxia autosomal recessive 5 11.2
5 galloway-mowat syndrome 1 11.1
6 dermatopathia pigmentosa reticularis 11.1
7 absence of fingerprints congenital milia 10.9
8 focal dermal hypoplasia 10.8
9 beare-stevenson cutis gyrata syndrome 10.6
10 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.6
11 cardiofaciocutaneous syndrome 2 10.6
12 tuberous sclerosis 10.6
13 kid syndrome 10.6
14 branchiooculofacial syndrome 10.4
15 cardiofaciocutaneous syndrome 1 10.4
16 cryoglobulinemia, familial mixed 10.4
17 vohwinkel syndrome 10.4
18 keratitis-ichthyosis-deafness syndrome, autosomal dominant 10.4
19 keratoderma, palmoplantar, with deafness 10.4
20 knuckle pads, leukonychia, and sensorineural deafness 10.4
21 carney complex, type 1 10.4
22 familial adenomatous polyposis 1 10.4
23 barber-say syndrome 10.4
24 greenberg dysplasia 10.4
25 ichthyosis, congenital, autosomal recessive 4b 10.4
26 donohue syndrome 10.4
27 chondrodysplasia punctata 2, x-linked dominant 10.4
28 lig4 syndrome 10.4
29 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 10.4
30 tuberous sclerosis 2 10.4
31 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 10.4
32 cardiofaciocutaneous syndrome 3 10.4
33 achondroplasia, severe, with developmental delay and acanthosis nigricans 10.4
34 chromosome 19q13.11 deletion syndrome 10.4
35 pten hamartoma tumor syndrome 10.4
36 mixed connective tissue disease 10.4
37 anthrax disease 10.4
38 cutaneous-skeletal hypophosphatemia syndrome 10.4
39 ichthyosis vulgaris 9.9 KRT14 LOR
40 adult syndrome 9.9
41 breast cancer 9.9
42 kindler syndrome 9.9
43 dyschromatosis universalis hereditaria 9.9
44 bloom syndrome 9.8 BLM WRN
45 reticulate acropigmentation of kitamura 9.8 DKC1 KRT14
46 dowling-degos disease 9.7 DKC1 KRT14
47 werner syndrome 9.6 BLM WRN
48 neurofibromatosis, type iv, of riccardi 9.4
49 diastematomyelia 9.4
50 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.4

Graphical network of the top 20 diseases related to Adermatoglyphia:



Diseases related to Adermatoglyphia

Symptoms & Phenotypes for Adermatoglyphia

Symptoms via clinical synopsis from OMIM:

53
Skin Nails Hair Skin:
epidermal ridges absent from palms and soles
difficulty grasping or holding objects
reduced sweating of palms and soles
mild hyperkeratosis of palms
calluses on weight-bearing areas of soles

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

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


Clinical features from OMIM:

136000

Human phenotypes related to Adermatoglyphia:

31
# Description HPO Frequency HPO Source Accession
1 clubbing 31 HP:0001217
2 adermatoglyphia 31 HP:0007455
3 palmar hyperkeratosis 31 HP:0010765

UMLS symptoms related to Adermatoglyphia:


pruritus, exanthema

MGI Mouse Phenotypes related to Adermatoglyphia:

43
# 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:

# Genetic test Affiliating Genes
1 Adermatoglyphia 28 SMARCAD1

Anatomical Context for Adermatoglyphia

MalaCards organs/tissues related to Adermatoglyphia:

38
Skin, Breast

Publications for Adermatoglyphia

Articles related to Adermatoglyphia:

# 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
# 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+665G> A single nucleotide variant Pathogenic rs1057519613 GRCh38 Chromosome 4, 94253672: 94253672
3 SMARCAD1 NM_001128430.1(SMARCAD1): c.1281+666T> C single nucleotide variant Pathogenic rs1114167276 GRCh38 Chromosome 4, 94253673: 94253673
4 SMARCAD1 NM_001128430.1(SMARCAD1): c.1281+669G> C single nucleotide variant Pathogenic rs1114167277 GRCh38 Chromosome 4, 94253676: 94253676

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:

# 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:

# 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)
# 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 15)
# Name GO ID Score Top Affiliating Genes
1 helicase activity GO:0004386 9.67 BLM SMARCAD1 WRN
2 structural constituent of cytoskeleton GO:0005200 9.55 KRT14 LOR
3 ATP-dependent DNA helicase activity GO:0004003 9.54 BLM WRN
4 DNA helicase activity GO:0003678 9.52 BLM WRN
5 four-way junction DNA binding GO:0000400 9.51 BLM WRN
6 ATP-dependent helicase activity GO:0008026 9.48 BLM WRN
7 bubble DNA binding GO:0000405 9.46 BLM WRN
8 G-quadruplex DNA binding GO:0051880 9.43 BLM WRN
9 ATP-dependent 3-5 DNA helicase activity GO:0043140 9.4 BLM WRN
10 Y-form DNA binding GO:0000403 9.37 BLM WRN
11 four-way junction helicase activity GO:0009378 9.32 BLM WRN
12 telomeric D-loop binding GO:0061821 9.26 BLM WRN
13 telomeric G-quadruplex DNA binding GO:0061849 9.16 BLM WRN
14 8-hydroxy-2-deoxyguanosine DNA binding GO:1905773 8.96 BLM WRN
15 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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