BSNS
MCID: BSN001
MIFTS: 40

Basan Syndrome (BSNS)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Basan Syndrome

MalaCards integrated aliases for Basan Syndrome:

Name: Basan Syndrome 57 12 20 72 36 29 6 15 70
Adermatoglyphia with Congenital Facial Milia and Acral Blisters, Digital Contractures, and Nail Abnormalities 57 20 72
Ectodermal Dysplasia, Absent Dermatoglyphic Pattern, Changes in Nails, and Simian Crease 57 72
Baird Syndrome 20 58
Adermatoglyphia, Congenital Facial Milia, Acral Blisters, Digital Contractures, Nail Abnormalities 39
Absence of Dermatoglyphics-Congenital Milia Syndrome 58
Absence of Fingerprints-Congenital Milia Syndrome 58
Absence of Dermatoglyphics Congenital Milia 20
Absence of Fingerprints Congenital Milia 20
Basan-Baird Syndrome 58
Bsns 72

Characteristics:

Orphanet epidemiological data:

58
absence of fingerprints-congenital milia syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
due to lack of epidermal ridging, patients lack fingerprints
some patients report increased tolerance to heat


HPO:

31
basan syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


Summaries for Basan Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1658 Definition A rare syndrome syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.

MalaCards based summary : Basan Syndrome, also known as adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities, is related to adermatoglyphia and ectodermal dysplasia. An important gene associated with Basan Syndrome 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 Chromatin organization. Affiliated tissues include temporal lobe and skin, and related phenotypes are abnormal dermatoglyphics and abnormal blistering of the skin

Disease Ontology : 12 An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet.

OMIM® : 57 Complete congenital absence of dermatoglyphs is a rare syndrome characterized by autosomal dominant inheritance of the lack of ridges on palms and soles, neonatal acral blisters and facial milia, adult traumatic blistering and fissuring, absent or reduced sweating of palms and soles, and contracture of digits. Additional features may include single palmar transverse crease, palmoplantar keratoderma, and nail grooving (summary by Limova et al., 1993). (129200) (Updated 20-May-2021)

KEGG : 36 Basan syndrome is a rare autosomal dominant ectodermal dysplasia, characterized by rapidly healing congenital acral bullae, congenital milia and lack of fingerprints. Other phenotypes include contractures of digits, hypohidrosis, palmoplantar keratoderma, and nail dystrophy. A mutation in the SMARCAD1 gene was recently reported to cause Basan syndrome.

UniProtKB/Swiss-Prot : 72 Basan syndrome: An autosomal dominant form of adermatoglyphia associated with congenital facial milia, acral blistering, digital contractures, and nail abnormalities. Adermatoglyphia is defined by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints.

Related Diseases for Basan Syndrome

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

(show all 30)
# Related Disease Score Top Affiliating Genes
1 adermatoglyphia 10.1
2 ectodermal dysplasia 10.1
3 erythrokeratoderma ''en cocardes'' 10.1
4 smarca4-deficient sarcoma of thorax 10.0 SMARCA4 SMARCA2
5 juvenile type testicular granulosa cell tumor 10.0 SMARCA4 SMARCA2
6 testicular granulosa cell tumor 10.0 SMARCA4 SMARCA2
7 knuckle pads 10.0
8 dowling-degos disease 1 10.0
9 adiaspiromycosis 10.0 SMARCA4 SMARCA2
10 developmental and epileptic encephalopathy 14 10.0 SMARCA4 SMARCA2
11 cardiac arrest 10.0
12 schimke immunoosseous dysplasia 10.0 SMARCA4 SMARCA2
13 floating-harbor syndrome 10.0 SMARCA4 SMARCA2
14 clark-baraitser syndrome 10.0 SMARCA4 SMARCA2
15 alpha thalassemia-x-linked intellectual disability syndrome 9.9 SMARCA4 SMARCA2
16 neurilemmomatosis 9.9 SMARCA4 SMARCA2
17 spondyloepiphyseal dysplasia with congenital joint dislocations 9.9 SMARCA4 SMARCA2
18 uv-sensitive syndrome 9.9 SMARCA4 SMARCA2
19 chromosome 16p13.3 deletion syndrome, proximal 9.9 SMARCA4 SMARCA2
20 rhabdoid cancer 9.9 SMARCA4 SMARCA2
21 non-syndromic intellectual disability 9.9 SMARCA4 SMARCA2
22 cartilage-hair hypoplasia 9.9 SMARCA4 SMARCA2
23 small cell carcinoma 9.8 SMARCA4 SMARCA2
24 immunodeficiency-centromeric instability-facial anomalies syndrome 9.8 SMARCA4 SMARCA2
25 epilepsy, familial temporal lobe, 1 9.8 SMARCAD1 SMARCA4 SMARCA2
26 hyperoxaluria, primary, type i 9.7 SMARCA4 EHMT2
27 charge syndrome 9.6 SMARCA4 SMARCA2
28 carbohydrate metabolic disorder 9.6 SMARCA4 EHMT2
29 primary hyperoxaluria 9.5 SMARCA4 SMARCA2 EHMT2
30 cockayne syndrome 9.5 SMARCA4 SMARCA2 EHMT2

Graphical network of the top 20 diseases related to Basan Syndrome:



Diseases related to Basan Syndrome

Symptoms & Phenotypes for Basan Syndrome

Human phenotypes related to Basan Syndrome:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal dermatoglyphics 58 31 hallmark (90%) Very frequent (99-80%) HP:0007477
2 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008066
3 milia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001056
4 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
5 hypohidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000966
6 skin rash 58 31 frequent (33%) Frequent (79-30%) HP:0000988
7 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
8 thickened skin 58 31 frequent (33%) Frequent (79-30%) HP:0001072
9 amniotic constriction ring 58 31 occasional (7.5%) Occasional (29-5%) HP:0009775
10 cutaneous syndactyly of toes 31 occasional (7.5%) HP:0010621
11 flexion contracture 31 HP:0001371
12 hyperkeratosis 31 HP:0000962
13 tapered finger 31 HP:0001182
14 single transverse palmar crease 31 HP:0000954
15 ectodermal dysplasia 31 HP:0000968
16 adermatoglyphia 31 HP:0007455
17 epidermal acanthosis 31 HP:0025092

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin Histology:
acanthosis
mild hyperkeratosis
absent or reduced number of sweat glands
irregularity of rete pegs
collagen bundles of dermis coarse and twisted
more
Skin Nails Hair Skin:
single transverse palmar crease (in some patients)
lack of epidermal ridges on palms and soles
facial milia, congenital, especially on chin
vesicles, congenital, on fingers and soles
erosions, congenital, on dorsal and/or plantar surface of hands and feet
more
Skin Nails Hair Nails:
transverse grooving
longitudinal grooving and splitting
clubbed appearance (in some patients)

Skeletal Hands:
tapered fingertips
flexion contractures of fingers
clinodactyly of fifth fingers (in some patients)
single transverse palmar crease (in some patients)

Skeletal Feet:
flexion contractures of toes
cutaneous syndactyly of toes (in some patients)

Clinical features from OMIM®:

129200 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Basan Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 8.92 EHMT2 SMARCA2 SMARCA4 SMARCAD1

Drugs & Therapeutics for Basan Syndrome

Search Clinical Trials , NIH Clinical Center for Basan Syndrome

Genetic Tests for Basan Syndrome

Genetic tests related to Basan Syndrome:

# Genetic test Affiliating Genes
1 Basan Syndrome 29 SMARCAD1

Anatomical Context for Basan Syndrome

MalaCards organs/tissues related to Basan Syndrome:

40
Temporal Lobe, Skin

Publications for Basan Syndrome

Articles related to Basan Syndrome:

(show all 15)
# Title Authors PMID Year
1
Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome. 57 6 61
26932190 2016
2
Analysis of two candidate genes for Basan syndrome. 61 6 57
24664640 2014
3
A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia. 57 6
21820097 2011
4
Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphia. 57 61
30289605 2018
5
Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964). 57
29269196 2018
6
The immigration delay disease: adermatoglyphia-inherited absence of epidermal ridges. 6
20619487 2011
7
Reevaluation of a kindred with congenital absence of dermal ridges, syndactyly, and facial milia. 57
7829732 1995
8
Congenital absence of dermatoglyphs. 57
8340514 1993
9
Absence of dermal ridge patterns: genetic heterogeneity. 57
6638074 1983
10
Congenital malformations of human dermatoglyphs. 57
4693462 1973
11
Anhidrotic ectodermal dysplasia. An unusual case of pyrexia in the newborn. 57
5771499 1969
12
Absence of fingerprints in four generations. 57
4177234 1968
13
[Ectodermal dysplasia. Missing papillary pattern, nail disorders and furrows on 4 fingers]. 57
5846547 1965
14
KINDRED SHOWING CONGENITAL ABSENCE OF THE DERMAL RIDGES (FINGERPRINTS) AND ASSOCIATED ANOMALIES. 57
14148996 1964
15
Ectodermal dysplasia with congenital adermatoglyphia (Basan syndrome): Report of two cases presenting with extensive congenital milia. 61
33486784 2021

Variations for Basan Syndrome

ClinVar genetic disease variations for Basan Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SMARCAD1 NM_001128430.2(SMARCAD1):c.1281+667A>T SNV Pathogenic 187779 rs895436485 GRCh37: 4:95174825-95174825
GRCh38: 4:94253674-94253674
2 overlap with 2 genes Complex Pathogenic 1050853 GRCh37:
GRCh38: 4:94175790-94254228
3 SMARCAD1 NM_020159.5(SMARCAD1):c.1281+665G>T SNV Pathogenic 30981 rs1057519613 GRCh37: 4:95174823-95174823
GRCh38: 4:94253672-94253672

Expression for Basan Syndrome

Search GEO for disease gene expression data for Basan Syndrome.

Pathways for Basan Syndrome

Pathways related to Basan Syndrome according to KEGG:

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

Pathways related to Basan Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.39 SMARCA4 SMARCA2 EHMT2
2
Show member pathways
11.57 SMARCAD1 SMARCA4 SMARCA2
3 11.33 SMARCAD1 SMARCA4 SMARCA2 EHMT2
4
Show member pathways
11.17 SMARCA4 SMARCA2
5
Show member pathways
11.05 SMARCAD1 SMARCA4 SMARCA2
6 10.96 SMARCA2 EHMT2

GO Terms for Basan Syndrome

Cellular components related to Basan Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SWI/SNF complex GO:0016514 9.16 SMARCA4 SMARCA2
2 nBAF complex GO:0071565 8.96 SMARCA4 SMARCA2
3 npBAF complex GO:0071564 8.62 SMARCA4 SMARCA2

Biological processes related to Basan Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 9.33 SMARCAD1 SMARCA4 EHMT2
2 negative regulation of cell growth GO:0030308 9.32 SMARCA4 SMARCA2
3 spermatid development GO:0007286 9.26 SMARCA2 EHMT2
4 chromatin remodeling GO:0006338 9.13 SMARCAD1 SMARCA4 SMARCA2
5 ATP-dependent chromatin remodeling GO:0043044 8.8 SMARCAD1 SMARCA4 SMARCA2

Molecular functions related to Basan Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 helicase activity GO:0004386 9.33 SMARCAD1 SMARCA4 SMARCA2
2 p53 binding GO:0002039 9.26 SMARCA4 EHMT2
3 hydrolase activity, acting on acid anhydrides GO:0016817 8.96 SMARCA4 SMARCA2
4 DNA-dependent ATPase activity GO:0008094 8.8 SMARCAD1 SMARCA4 SMARCA2

Sources for Basan Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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