MCID: BSN001
MIFTS: 22

Basan Syndrome

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Basan Syndrome

MalaCards integrated aliases for Basan Syndrome:

Name: Basan Syndrome 53 71 69
Adermatoglyphia with Congenital Facial Milia and Acral Blisters, Digital Contractures, and Nail Abnormalities 53 71
Ectodermal Dysplasia, Absent Dermatoglyphic Pattern, Changes in Nails, and Simian Crease 53 71
Bsns 71

Characteristics:

OMIM:

53
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:



Summaries for Basan Syndrome

OMIM : 53 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, and has symptoms including flexion contracture, tapered finger and single transverse palmar crease. 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.

UniProtKB/Swiss-Prot : 71 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:

53
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:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 flexion contracture 31 HP:0001371
2 tapered finger 31 HP:0001182
3 single transverse palmar crease 31 HP:0000954
4 ectodermal dysplasia 31 HP:0000968
5 milia 31 HP:0001056
6 cutaneous syndactyly of toes 31 occasional (7.5%) HP:0010621
7 adermatoglyphia 31 HP:0007455
8 epidermal acanthosis 31 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:

38
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+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
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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