ADERM
MCID: ADR038
MIFTS: 49

Adermatoglyphia (ADERM)

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

Aliases & Classifications for Adermatoglyphia

MalaCards integrated aliases for Adermatoglyphia:

Name: Adermatoglyphia 56 12 52 25 73 36 29 13 6 15 39
Immigration Delay Disease 12 52 25 58 73
Aderm 56 12 52 25 73
Absence of Fingerprints 12 52 25 73
Adg 12 52 25 15
Isolated Congenital Adermatoglyphia 12 52 58
Congenital Absence of Fingerprints 12 52 58
Skin Abnormalities 43 71
Fingerprints, Absence of 56

Characteristics:

Orphanet epidemiological data:

58
isolated congenital adermatoglyphia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
adermatoglyphia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111357
OMIM 56 136000
KEGG 36 H02295
MeSH 43 D012868
ICD10 via Orphanet 33 Q82.8
Orphanet 58 ORPHA289465
SNOMED-CT via HPO 68 263681008 367004
UMLS 71 C0037268

Summaries for Adermatoglyphia

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. In some families, adermatoglyphia occurs without any related signs and symptoms. In others, a lack of dermatoglyphs is associated with other features, typically affecting the skin. These can include small white bumps called milia on the face, blistering of the skin in areas exposed to heat or friction, and a reduced number of sweat glands on the hands and feet. Adermatoglyphia is also a feature of several rare syndromes classified as ectodermal dysplasias, including a condition called Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis that affects the skin, hair, sweat glands, and teeth.

MalaCards based summary : Adermatoglyphia, also known as immigration delay disease, is related to naegeli-franceschetti-jadassohn syndrome and reticulate acropigmentation of kitamura, and has symptoms including pruritus 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 Signaling pathways regulating pluripotency of stem cells and Immune response IFN alpha/beta signaling pathway. The drugs Retapamulin and Atorvastatin have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and kidney, and related phenotypes are adermatoglyphia and clubbing

Disease Ontology : 12 A skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that has material basis in heterozygous mutation in SMARCAD1 on chromosome 4q22.3.

NIH Rare Diseases : 52 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.

OMIM : 56 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). 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)

KEGG : 36 Adermatoglyphia (ADERM) is a rare autosomal dominant condition characterized by lack of palmoplantar epidermal ridges. Mutations in SMARCAD1 was identified in patients. It seems that haploinsufficiency for the skin-specific isoform of SMARCAD1 directly or indirectly perturbs the expression of important signalling pathways associated with epidermal differentiation.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Adermatoglyphia is an extremely rare genetic disorder that 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 164)
# Related Disease Score Top Affiliating Genes
1 naegeli-franceschetti-jadassohn syndrome 32.4 SMARCAD1 KRT14
2 reticulate acropigmentation of kitamura 30.3 KRT14 DKC1
3 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development 12.5
4 basan syndrome 12.3
5 galloway-mowat syndrome 1 11.8
6 muscular dystrophy, congenital, davignon-chauveau type 11.6
7 dermatopathia pigmentosa reticularis 11.5
8 skin disease 11.5
9 focal dermal hypoplasia 11.3
10 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 11.2
11 spinocerebellar ataxia autosomal recessive 5 11.2
12 pigmentation anomaly of the skin 11.2
13 incontinentia pigmenti 11.0
14 rothmund-thomson syndrome, type 2 11.0
15 gaucher's disease 11.0
16 beare-stevenson cutis gyrata syndrome 11.0
17 keratitis-ichthyosis-deafness syndrome, autosomal dominant 10.9
18 cardiofaciocutaneous syndrome 1 10.9
19 keratoderma, palmoplantar, with deafness 10.9
20 bart-pumphrey syndrome 10.9
21 tuberous sclerosis 1 10.9
22 trichohepatoenteric syndrome 1 10.9
23 ichthyosis, congenital, autosomal recessive 4b 10.9
24 netherton syndrome 10.9
25 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.9
26 crouzon syndrome with acanthosis nigricans 10.9
27 cardiofaciocutaneous syndrome 2 10.9
28 achondroplasia, severe, with developmental delay and acanthosis nigricans 10.9
29 tuberous sclerosis 10.9
30 keratoderma with woolly hair 10.9
31 branchiooculofacial syndrome 10.7
32 vohwinkel syndrome 10.7
33 carney complex, type 1 10.7
34 familial adenomatous polyposis 1 10.7
35 barber-say syndrome 10.7
36 focal facial dermal dysplasia 3, setleis type 10.7
37 achalasia-addisonianism-alacrima syndrome 10.7
38 donohue syndrome 10.7
39 mandibuloacral dysplasia with type a lipodystrophy 10.7
40 proteasome-associated autoinflammatory syndrome 1 10.7
41 multicentric osteolysis, nodulosis, and arthropathy 10.7
42 sjogren-larsson syndrome 10.7
43 winchester syndrome 10.7
44 ectodermal dysplasia and immunodeficiency 1 10.7
45 chondrodysplasia punctata 2, x-linked dominant 10.7
46 ichthyosis, hystrix-like, with deafness 10.7
47 lig4 syndrome 10.7
48 erythroderma, ichthyosiform, congenital reticular 10.7
49 alopecia, neurologic defects, and endocrinopathy syndrome 10.7
50 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 10.7

Graphical network of the top 20 diseases related to Adermatoglyphia:



Diseases related to Adermatoglyphia

Symptoms & Phenotypes for Adermatoglyphia

Human phenotypes related to Adermatoglyphia:

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

Symptoms via clinical synopsis from OMIM:

56
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

UMLS symptoms related to Adermatoglyphia:


pruritus, exanthema

GenomeRNAi Phenotypes related to Adermatoglyphia according to GeneCards Suite gene sharing:

26 (show all 50)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-111 10 DKC1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10 IGF1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-119 10 DKC1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10 GH1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-129 10 DKC1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10 GH1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-135 10 GH1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10 IGF1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-139 10 DKC1 ELAC1 GH1 GH2 IGF1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10 ELAC1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-148 10 GH2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-150 10 ELAC1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10 GH1 IGF1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-163 10 DKC1 IGF1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10 IGF1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10 DKC1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10 IGF1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10 ELAC1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-180 10 DKC1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-184 10 GH2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-193 10 IGF1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10 DKC1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-200 10 DKC1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10 DKC1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10 IGF1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-211 10 DKC1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10 DKC1 ELAC1 GH1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-27 10 GH2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10 ELAC1 IGF1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10 DKC1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10 GH1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10 GH1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10 ELAC1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10 DKC1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-86 10 DKC1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-89 10 DKC1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-91 10 DKC1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-96 10 GH1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10 IGF1
40 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.7 DKC1
41 Decreased shRNA abundance (Z-score < -2) GR00366-A-129 9.7 RNF34
42 Decreased shRNA abundance (Z-score < -2) GR00366-A-137 9.7 RNF34
43 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.7 IFI30
44 Decreased shRNA abundance (Z-score < -2) GR00366-A-151 9.7 IFI30
45 Decreased shRNA abundance (Z-score < -2) GR00366-A-164 9.7 RNF34
46 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 9.7 DKC1
47 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 9.7 DKC1
48 Decreased shRNA abundance (Z-score < -2) GR00366-A-3 9.7 DKC1
49 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.7 RNF34
50 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.7 RNF34

MGI Mouse Phenotypes related to Adermatoglyphia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.1 BLM DKC1 HP IGF1 KRT14 WRN

Drugs & Therapeutics for Adermatoglyphia

Drugs for Adermatoglyphia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Retapamulin Approved Phase 4 224452-66-8 6918462
2
Atorvastatin Approved Phase 4 134523-00-5 60823
3 Anti-Bacterial Agents Phase 4
4 Anti-Infective Agents Phase 4
5 Hypolipidemic Agents Phase 4
6 Lipid Regulating Agents Phase 4
7 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
8 Anticholesteremic Agents Phase 4
9 Antimetabolites Phase 4
10
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
11
Pantothenic acid Approved, Nutraceutical, Vet_approved Phase 2 79-83-4 6613
12 Trace Elements Phase 2
13 Vitamin B Complex Phase 2
14 Folate Phase 2
15 Nutrients Phase 2
16 Micronutrients Phase 2
17 Vitamin B9 Phase 2
18
Formaldehyde Approved, Vet_approved Early Phase 1 50-00-0 712
19
Caffeine Approved 58-08-2 2519
20
Petrolatum Approved, Investigational 8009-03-8
21
Epinephrine Approved, Vet_approved 51-43-4 5816
22
Racepinephrine Approved 329-65-7 838
23
Prednisolone phosphate Approved, Vet_approved 302-25-0
24
Methylprednisolone Approved, Vet_approved 83-43-2 6741
25
Methylprednisolone hemisuccinate Approved 2921-57-5
26
Curcumin Approved, Experimental, Investigational 458-37-7 969516
27
Prednisolone Approved, Vet_approved 50-24-8 5755
28 Prednisolone acetate Approved, Vet_approved 52-21-1
29
Borage oil Approved, Investigational
30
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved 83-88-5 493570
31
Vitamin D3 Approved, Nutraceutical 67-97-0 5280795 6221
32
Lutein Approved, Investigational, Nutraceutical 127-40-2 6433159
33
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
34
Monensin Experimental, Vet_approved 17090-79-8
35
Prednisolone hemisuccinate Experimental 2920-86-7
36 Dermatologic Agents
37 Photosensitizing Agents
38 Vitamin B2
39 Phosphodiesterase Inhibitors
40 Central Nervous System Stimulants
41 Neurotransmitter Agents
42 Hemostatics
43 Pharmaceutical Solutions
44 Epinephryl borate
45 Insulin, Globin Zinc
46 Hormones
47 Antineoplastic Agents, Hormonal
48 Methylprednisolone Acetate
49 Hormone Antagonists
50 glucocorticoids

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 An Open-Label, Non-Comparative Study to Assess the Pharmacokinetics, Safety and Efficacy of Topical Retapamulin (SB-275833) Ointment, 1%, Twice Daily for Five Days in the Treatment of Uncomplicated Skin and Skin Structure Infections in Pediatric Subjects Aged 2 to 24 Months Completed NCT00555061 Phase 4 Retapamulin Ointment, 1%
2 Salusin-alpha - a New Factor in the Pathogenesis of Lipid Abnormalities in Hemodialysis Patients Completed NCT01448174 Phase 4 Atorvastatin
3 Phase 1/2 Study of Autologous Stromal Vascular Fraction in Adipose Tissue Transplantation in Improving Skin Grafting Unknown status NCT02546882 Phase 1, Phase 2 saline
4 Evaluation of the Moisturizing Effect of Bepanthen Burn Relief Foam Spray New Formula Versus Bepanthen Burn Relief Foam Spray (Current Formula). Equivalence Trial. Intra-individual Design. Completed NCT00839280 Phase 2 Dexpanthenol foam spray, new formulation;Dexpanthenol foam spray, old formulation
5 Single-Blind Study Determining the Efficacy of Polypodium Leucotomos Extract Supplement in Decreasing UVA Premutagenic and Photoaging Markers Completed NCT00520910 Phase 2 Polypodium leucotomos
6 An Interventional, Multicenter, Single Arm, Phase I/IIa Clinical Trial to Investigate the Efficacy and Safety of Allo-APZ2-EB on Epidermolysis Bullosa (EB) Recruiting NCT03529877 Phase 1, Phase 2
7 Prevalence of Birt-Hogg-Dubé Syndrome Among Patients With (Hereditary) Spontaneous Pneumothorax Unknown status NCT02916992 Phase 1
8 A Phase I Study to Assess the Safety of Three Formulations of the Dermal Implant ELAPR in Healthy Subjects Completed NCT01467778 Phase 1
9 Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VI Unknown status NCT01307527 Riboflavin
10 Safety of Formalin-free Fixatives for In-Vivo Fixation of Skin Lesions. Unknown status NCT01176994 Early Phase 1
11 Change in Skin Elasticity After Combined Radiofrequency and Electromagnetic Treatment Completed NCT03002194
12 A Phase 4, Open-Label, Prospective Evaluation of the Incidence of Nephrogenic Systemic Fibrosis (NSF) in Patients With Moderate to Severe Kidney Disease Undergoing Magnetic Resonance Imaging (MRI) With Ablavar (Gadofosveset Trisodium) in Routine Clinical Practice Completed NCT01135316 Ablavar
13 Evaluation of Nano-Pulse Stimulation (NPS) in Sebaceous Hyperplasia Completed NCT03612570
14 Herbal Therapy for Subcutaneous Injection Site Reactions in Multiple Sclerosis Completed NCT00972062
15 Impact of Genomics and Exposures on Disparities in Breast Cancer Radiosensitivity Completed NCT01407770
16 Non Invasive Measurement of the Haemodynamic Parameters and of the Advanced Glycation End Products (AGEs) Levels in Students Smokers and in Students Who Intake Caffeine (NONINVASHAEMOAGES) Completed NCT02544165
17 Defining the Skin and Blood Biomarkers of Pediatric Atopic Dermatitis SUB-STUDY: Defining the Predictive Non-Invasive Biomarkers for Pediatric Atopic Dermatitis (Funded by Regeneron Pharmaceuticals, Inc.) Recruiting NCT01782703
18 Cancer Risk in Xeroderma Pigmentosum Heterozygotes Recruiting NCT00046189
19 A Randomized Controlled Trial Comparing Suprathel Versus Xeroform for the Management of Pediatric and Adult Split Thickness Skin Graft Donor Sites Recruiting NCT04014400
20 The Effect of Curcumin on the Development of Prednisolone-induced Hepatic Insulin Resistance in Overweight and Obese Participants Recruiting NCT04315350 Curcumin Liposome;Prednisolone;Placebos
21 Prospective, Open Label, Multi-Center, Non-Significant Risk Study of Nano-Pulse Stimulation™ (NPS™ ) Technology in Healthy Adults With Sebaceous Hyperplasia Active, not recruiting NCT04253418
22 A Single Cohort Study Collecting Interval Timed Incisional Epidermal and Dermal Tissue Samples During Surgical Procedures to Profile Temporal Response of Tissue After Noxious Stimuli Enrolling by invitation NCT04224870
23 Pilot Study of Skin Quality Improvement After Adipose-drived Stem Cell Transfer in Irradiated Breasts Not yet recruiting NCT01801878
24 The Effects of Oral Supplementation With Bend Beauty's Anti-Aging Formula on Inflammatory Markers Suspended NCT03862872
25 Open Label Evaluation of the Effects of HP828-101 in the Management of Moisture Associated Skin Damage in Adults Terminated NCT01108523 Early Phase 1
26 A Prospective Multicenter Randomized Controlled Clinical Study to Investigate the Safety and Effectiveness of RES (Regenerative Epidermal Suspension) Prepared With the RECELL® Device Compared to Conventional Care for Healing of Donor Sites in Infants, Children and Adolescents (Aged 1-16 Years) Terminated NCT03624192
27 Evaluation of Customer Support Issues, Questions, or Alleged Complaints Regarding Use of Approved Commercially Distributed Scout DS Product in the Field Withdrawn NCT01547403

Search 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 29 SMARCAD1

Anatomical Context for Adermatoglyphia

MalaCards organs/tissues related to Adermatoglyphia:

40
Skin, Breast, Kidney

Publications for Adermatoglyphia

Articles related to Adermatoglyphia:

(show all 24)
# Title Authors PMID Year
1
Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes. 61 56 6
24909267 2014
2
A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia. 56 6 61
21820097 2011
3
The immigration delay disease: adermatoglyphia-inherited absence of epidermal ridges. 61 56 6
20619487 2011
4
Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome. 6 61
26932190 2016
5
SMARCAD1 Haploinsufficiency Underlies Huriez Syndrome and Associated Skin Cancer Susceptibility. 6
29409814 2018
6
A gene for an autosomal dominant scleroatrophic syndrome predisposing to skin cancer (Huriez syndrome) maps to chromosome 4q23. 6
10631162 2000
7
Development and content validity of new patient-reported outcome questionnaires to assess the signs and symptoms and impact of atopic dermatitis: the Atopic Dermatitis Symptom Scale (ADerm-SS) and the Atopic Dermatitis Impact Scale (ADerm-IS). 61
30561230 2019
8
Adermatoglyphia: Barriers to Biometric Identification and the Need for a Standardized Alternative. 61
31011502 2019
9
Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia. 61
30289605 2018
10
Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964). 61
29269196 2018
11
Capecitabine and adermatoglyphia: trouble in border! 61
27859657 2017
12
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. 61
28191373 2017
13
Is adermatoglyphia an additional feature of Kindler Syndrome? 61
26375235 2015
14
Acropigmentation of Kitamura with immigration delay disease: A rare entity. 61
26009721 2015
15
A case of dyschromatosis universalis hereditaria with adermatoglyphia: A rare association. 61
25821732 2015
16
Unusual manifestations of ectodermal dysplasia-syndactyly syndrome type I in two Yemeni siblings. 61
25612123 2015
17
[Adermatoglyphia or "immigration delay disease": the role of mutations in the SMARCAD1 gene]. 61
22225750 2012
18
Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome. 61
20814947 2010
19
Bloom's syndrome workshop focuses on the functional specificities of RecQ helicases. 54
19238688 2008
20
A novel c.545-546insG mutation in the loricrin gene correlates with a heterogeneous phenotype of loricrin keratoderma. 54
18844868 2008
21
Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita. 54
16690864 2006
22
Overexpression of APOC1 in obob mice leads to hepatic steatosis and severe hepatic insulin resistance. 54
14523051 2004
23
A case of dermatopathia pigmentosa reticularis. 61
9164071 1997
24
Dermatopathia pigmentosa reticularis: a report of a family demonstrating autosomal dominant inheritance. 61
1303619 1992

Variations for Adermatoglyphia

ClinVar genetic disease variations for Adermatoglyphia:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMARCAD1 NM_020159.5(SMARCAD1):c.1281+665G>TSNV Pathogenic 30981 rs1057519613 4:95174823-95174823 4:94253672-94253672
2 SMARCAD1 NM_020159.5(SMARCAD1):c.1281+665G>ASNV Pathogenic 187776 rs1057519613 4:95174823-95174823 4:94253672-94253672
3 SMARCAD1 NM_020159.5(SMARCAD1):c.1281+666T>CSNV Pathogenic 187777 rs1114167276 4:95174824-95174824 4:94253673-94253673
4 SMARCAD1 NM_020159.5(SMARCAD1):c.1281+669G>CSNV Pathogenic 187778 rs1114167277 4:95174827-95174827 4:94253676-94253676

Expression for Adermatoglyphia

Search GEO for disease gene expression data for Adermatoglyphia.

Pathways for Adermatoglyphia

Pathways related to Adermatoglyphia according to KEGG:

36
# Name Kegg Source Accession
1 Signaling pathways regulating pluripotency of stem cells hsa04550

Pathways related to Adermatoglyphia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.47 IGF1 GH2 GH1 DKC1
2 10.62 WRN DKC1 BLM

GO Terms for Adermatoglyphia

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

# Name GO ID Score Top Affiliating Genes
1 endosome lumen GO:0031904 8.96 GH2 GH1
2 presynaptic active zone cytoplasmic component GO:0098831 8.62 ERC2 CTBP2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.67 IGF1 GH2 GH1
2 DNA unwinding involved in DNA replication GO:0006268 9.54 WRN BLM
3 DNA double-strand break processing GO:0000729 9.52 SMARCAD1 BLM
4 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.51 GH2 GH1
5 DNA duplex unwinding GO:0032508 9.5 WRN SMARCAD1 BLM
6 cellular metabolic process GO:0044237 9.48 WRN BLM
7 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.46 IGF1 GH1
8 t-circle formation GO:0090656 9.43 WRN BLM
9 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.43 IGF1 GH2 GH1
10 growth hormone receptor signaling pathway GO:0060396 9.4 GH2 GH1
11 positive regulation of growth GO:0045927 9.37 GH2 GH1
12 telomeric D-loop disassembly GO:0061820 9.16 WRN BLM
13 G-quadruplex DNA unwinding GO:0044806 8.96 WRN BLM
14 maintenance of presynaptic active zone structure GO:0048790 8.62 ERC2 CTBP2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.48 WRN TRDN SMARCAD1 RNF34 MALRD1 LORICRIN
2 hormone activity GO:0005179 9.71 IGF1 GH2 GH1
3 DNA helicase activity GO:0003678 9.61 WRN SMARCAD1 BLM
4 four-way junction DNA binding GO:0000400 9.52 WRN BLM
5 3'-5' DNA helicase activity GO:0043138 9.51 WRN BLM
6 G-quadruplex DNA binding GO:0051880 9.49 WRN BLM
7 growth hormone receptor binding GO:0005131 9.48 GH2 GH1
8 bubble DNA binding GO:0000405 9.46 WRN BLM
9 four-way junction helicase activity GO:0009378 9.4 WRN BLM
10 Y-form DNA binding GO:0000403 9.37 WRN BLM
11 structural constituent of presynaptic active zone GO:0098882 9.32 ERC2 CTBP2
12 telomeric D-loop binding GO:0061821 9.26 WRN BLM
13 8-hydroxy-2'-deoxyguanosine DNA binding GO:1905773 9.16 WRN BLM
14 telomeric G-quadruplex DNA binding GO:0061849 8.96 WRN BLM
15 forked DNA-dependent helicase activity GO:0061749 8.62 WRN BLM

Sources for Adermatoglyphia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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