BSNS
MCID: BSN001
MIFTS: 22

Basan Syndrome (BSNS)

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Basan Syndrome

MalaCards integrated aliases for Basan Syndrome:

Name: Basan Syndrome 57 75 6 73
Adermatoglyphia with Congenital Facial Milia and Acral Blisters, Digital Contractures, and Nail Abnormalities 57 75
Ectodermal Dysplasia, Absent Dermatoglyphic Pattern, Changes in Nails, and Simian Crease 57 75
Adermatoglyphia, Congenital Facial Milia, Acral Blisters, Digital Contractures, Nail Abnormalities 40
Bsns 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
basan syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Basan Syndrome

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)

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). Affiliated tissues include skin, and related phenotypes are single transverse palmar crease and ectodermal dysplasia

UniProtKB/Swiss-Prot : 75 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 11.4
2 striatonigral degeneration, infantile 11.1
3 adermatoglyphia 11.0

Symptoms & Phenotypes for Basan Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Basan Syndrome:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 single transverse palmar crease 32 HP:0000954
2 ectodermal dysplasia 32 HP:0000968
3 milia 32 HP:0001056
4 tapered finger 32 HP:0001182
5 flexion contracture 32 HP:0001371
6 adermatoglyphia 32 HP:0007455
7 cutaneous syndactyly of toes 32 occasional (7.5%) HP:0010621
8 epidermal acanthosis 32 HP:0025092

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:

41
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

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

Expression for Basan Syndrome

Search GEO for disease gene expression data for Basan Syndrome.

Pathways for Basan Syndrome

GO Terms for Basan Syndrome

Sources for Basan Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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