Basan syndrome

Preferred Label : Basan syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease; Adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities;

Description : 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).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily A, DEAD/H box-containing, 1 gene (SMARCAD1, 612761.0001);

Prefixed ID : #129200;

Details

Origin ID

129200;

UMLS CUI

C0406707;

Automatic exact mappings (from CISMeF team)
- Absence of fingerprints-congenital milia syndrome [ORDO Disease]
- BASAN syndrome [DO Concept]
Currated CISMeF NLP mapping
- Basan syndrome [MeSH concept]
- Basan syndrome (disorder) [SNOMED CT concept]
- Ectodermal dysplasia-absent dermatoglyphs syndrome [ORDO Disease]
- basan syndrome [MeSH Supplementary Concept]
DO Cross reference
- BASAN syndrome [DO Concept]
Genes related to phenotype
- Swi/snf-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, dead/h box-containing, 1 [OMIM gene]
HPO term(s)
- Acral blistering [HPO term]
- Adermatoglyphia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cutaneous syndactyly of toes [HPO term]
- Ectodermal dysplasia [HPO term]
- Epidermal acanthosis [HPO term]
- Flexion contracture of digit [HPO term]
- Hypermelanotic macule [HPO term]
- Knuckle pad [HPO term]
- Milia [HPO term]
- Nail dystrophy [HPO term]
- Neonatal onset [HPO term]
- Palmoplantar hypohidrosis [HPO term]
- Palmoplantar keratoderma [HPO term]
- Single transverse palmar crease [HPO term]
- Tapered finger [HPO term]
ORDO concept(s)
- Absence of fingerprints-congenital milia syndrome [ORDO Disease]
- Ectodermal dysplasia-absent dermatoglyphs syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Absence of fingerprints-congenital milia syndrome [ORDO Disease]
- Basan syndrome [MeSH concept]
- Basan syndrome (disorder) [SNOMED CT concept]
- Ectodermal dysplasia-absent dermatoglyphs syndrome [ORDO Disease]
- basan syndrome [MeSH Supplementary Concept]

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