MCID: ABS001
MIFTS: 15

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 50
Basan Syndrome 50 69
Adermatoglyphia with Congenital Facial Milia and Acral Blisters, Digital Contractures, and Nail Abnormalities 50
Absence of Dermatoglyphics Congenital Milia 50
Baird Syndrome 50

Classifications:



Summaries for Absence of Fingerprints Congenital Milia

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 1658old section part 1this 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.old section part 2visit 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:

id Related Disease Score Top Affiliating Genes
1 basan syndrome 12.2
2 adermatoglyphia 10.9

Symptoms & Phenotypes for Absence of Fingerprints Congenital Milia

Human phenotypes related to Absence of Fingerprints Congenital Milia:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 thin skin 32 hallmark (90%) HP:0000963
2 hypohidrosis 32 frequent (33%) HP:0000966
3 skin rash 32 frequent (33%) HP:0000988
4 milia 32 hallmark (90%) HP:0001056
5 thickened skin 32 frequent (33%) HP:0001072
6 abnormal dermatoglyphics 32 hallmark (90%) HP:0007477
7 abnormal blistering of the skin 32 hallmark (90%) HP:0008066
8 amniotic constriction ring 32 occasional (7.5%) HP:0009775
9 camptodactyly of finger 32 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:

39
Skin

Publications for Absence of Fingerprints Congenital Milia

Variations for Absence of Fingerprints Congenital Milia

ClinVar genetic disease variations for Absence of Fingerprints Congenital Milia:

6
id 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 GRCh37 Chromosome 4, 95174825: 95174825

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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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