Adermatoglyphia

Preferred Label : Adermatoglyphia;

Symbol : ADERM;

CISMeF acronym : ADERM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fingerprints, absence of;

Description : Adermatoglyphia is characterized by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints, and is associated with a reduced number of sweat gland openings and reduced sweating of palms and soles (summary by Nousbeck et al., 2011). Another form of adermatoglyphia is associated with congenital facial milia and acral blistering, digital contractures, and nail abnormalities (129200). Also see Naegeli-Franceschetti-Jadassohn syndrome (NFJS; 161000) and dermatopathia pigmentosa reticularis (DPR; 125595), 2 closely related autosomal dominant ectodermal dysplasia syndromes that clinically share complete absence of dermatoglyphics and are caused by heterozygous nonsense or frameshift mutations in the KRT14 gene (148066).;

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 : #136000;

Details

Origin ID

136000;

UMLS CUI

C1852150;

Automatic exact mappings (from CISMeF team)
- Adermatoglyphia [MedDRA LLT]
- Isolated congenital adermatoglyphia [ORDO Disease]
- adermatoglyphia [DO Concept]
- fingerprints, absence of [MeSH concept]
- fingerprints, absence of [MeSH Supplementary Concept]
CISMeF manual mappings
- Absence of fingerprints with congenital milia syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Absence of fingerprints-congenital milia syndrome [ORDO Disease]
- Adermatoglyphia [HPO term]
DO Cross reference
- adermatoglyphia [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)
- Adermatoglyphia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Clubbing [HPO term]
- Palmar hyperkeratosis [HPO term]
Matching ORDO disease(s)
- Absence of fingerprints-congenital milia syndrome [ORDO Disease]
ORDO concept(s)
- Isolated congenital adermatoglyphia [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Adermatoglyphia [MedDRA LLT]
- Adermatoglyphia [HPO term]
- fingerprints, absence of [MeSH Supplementary Concept]
- fingerprints, absence of [MeSH concept]

Keyword's position in hierarchy(ies) :

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