MCID: ABS001
MIFTS: 19

Absence of Fingerprints Congenital Milia

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Absence of Fingerprints Congenital Milia

MalaCards integrated aliases for Absence of Fingerprints Congenital Milia:

Name: Absence of Fingerprints Congenital Milia 49
Basan Syndrome 49 69
Adermatoglyphia with Congenital Facial Milia and Acral Blisters, Digital Contractures, and Nail Abnormalities 49
Absence of Dermatoglyphics Congenital Milia 49
Baird Syndrome 49

Classifications:



Summaries for Absence of Fingerprints Congenital Milia

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1658Disease definitionThis syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominanttrait.Visit the Orphanet disease page for more resources. Last updated: 8/4/2006

MalaCards based summary : Absence of Fingerprints Congenital Milia, also known as basan syndrome, is related to basan syndrome and adermatoglyphia, and has symptoms including thin skin, hypohidrosis and skin rash. An important gene associated with Absence of Fingerprints Congenital Milia is SMARCAD1 (SWI/SNF-Related, Matrix-Associated Actin-Dependent Regulator Of Chromatin, Subfamily A, Containing DEAD/H Box 1). Affiliated tissues include skin.

Related Diseases for Absence of Fingerprints Congenital Milia

Diseases related to Absence of Fingerprints Congenital Milia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 basan syndrome 12.4
2 adermatoglyphia 11.0

Symptoms & Phenotypes for Absence of Fingerprints Congenital Milia

Human phenotypes related to Absence of Fingerprints Congenital Milia:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 thin skin 31 hallmark (90%) HP:0000963
2 hypohidrosis 31 frequent (33%) HP:0000966
3 skin rash 31 frequent (33%) HP:0000988
4 milia 31 hallmark (90%) HP:0001056
5 thickened skin 31 frequent (33%) HP:0001072
6 abnormal dermatoglyphics 31 hallmark (90%) HP:0007477
7 abnormal blistering of the skin 31 hallmark (90%) HP:0008066
8 amniotic constriction ring 31 occasional (7.5%) HP:0009775
9 camptodactyly of finger 31 frequent (33%) HP:0100490

Drugs & Therapeutics for Absence of Fingerprints Congenital Milia

Search Clinical Trials , NIH Clinical Center for Absence of Fingerprints Congenital Milia

Genetic Tests for Absence of Fingerprints Congenital Milia

Anatomical Context for Absence of Fingerprints Congenital Milia

MalaCards organs/tissues related to Absence of Fingerprints Congenital Milia:

38
Skin

Publications for Absence of Fingerprints Congenital Milia

Articles related to Absence of Fingerprints Congenital Milia:

# 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 Absence of Fingerprints Congenital Milia

ClinVar genetic disease variations for Absence of Fingerprints Congenital Milia:

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 Absence of Fingerprints Congenital Milia

Search GEO for disease gene expression data for Absence of Fingerprints Congenital Milia.

Pathways for Absence of Fingerprints Congenital Milia

GO Terms for Absence of Fingerprints Congenital Milia

Sources for Absence of Fingerprints Congenital Milia

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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