BSNS
MCID: BSN001
MIFTS: 23

Basan Syndrome (BSNS)

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Basan Syndrome

MalaCards integrated aliases for Basan Syndrome:

Name: Basan Syndrome 58 76 38 6 74
Adermatoglyphia with Congenital Facial Milia and Acral Blisters, Digital Contractures, and Nail Abnormalities 58 76
Ectodermal Dysplasia, Absent Dermatoglyphic Pattern, Changes in Nails, and Simian Crease 58 76
Adermatoglyphia, Congenital Facial Milia, Acral Blisters, Digital Contractures, Nail Abnormalities 41
Bsns 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
basan syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Basan Syndrome

OMIM : 58 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)

MalaCards based summary : Basan Syndrome, also known as adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities, is related to absence of fingerprints congenital milia and striatonigral degeneration, infantile. 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 is Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include skin, and related phenotypes are cutaneous syndactyly of toes and flexion contracture

UniProtKB/Swiss-Prot : 76 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:

# Related Disease Score Top Affiliating Genes
1 absence of fingerprints congenital milia 11.6
2 striatonigral degeneration, infantile 11.3
3 raine syndrome 10.6
4 carney complex, type 1 10.1
5 caronte 10.1
6 depression 10.1
7 adermatoglyphia 10.1

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:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 cutaneous syndactyly of toes 33 occasional (7.5%) HP:0010621
2 flexion contracture 33 HP:0001371
3 hyperkeratosis 33 HP:0000962
4 tapered finger 33 HP:0001182
5 single transverse palmar crease 33 HP:0000954
6 epidermal acanthosis 33 HP:0025092
7 ectodermal dysplasia 33 HP:0000968
8 milia 33 HP:0001056
9 adermatoglyphia 33 HP:0007455

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Basan Syndrome

Search Clinical Trials , NIH Clinical Center for Basan Syndrome

Genetic Tests for Basan Syndrome

Anatomical Context for Basan Syndrome

MalaCards organs/tissues related to Basan Syndrome:

42
Skin

Publications for Basan Syndrome

Articles related to Basan Syndrome:

# Title Authors Year
1
Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome. ( 26932190 )
2016
2
Analysis of two candidate genes for Basan syndrome. ( 24664640 )
2014
3
The immigration delay disease: adermatoglyphia-inherited absence of epidermal ridges. ( 20619487 )
2011
4
A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia. ( 21820097 )
2011

Variations for Basan Syndrome

ClinVar genetic disease variations for Basan Syndrome:

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> T single nucleotide variant Pathogenic rs1057519613 GRCh37 Chromosome 4, 95174823: 95174823
3 SMARCAD1 NM_001128430.1(SMARCAD1): c.1281+667A> T single nucleotide variant Pathogenic rs895436485 GRCh38 Chromosome 4, 94253674: 94253674
4 SMARCAD1 NM_001128430.1(SMARCAD1): c.1281+667A> T single nucleotide variant Pathogenic rs895436485 GRCh37 Chromosome 4, 95174825: 95174825

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:

38
# Name Kegg Source Accession
1 Signaling pathways regulating pluripotency of stem cells hsa04550

GO Terms for Basan Syndrome

Sources for Basan Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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