MCID: ABS001
MIFTS: 17

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 53
Basan Syndrome 53 73
Adermatoglyphia with Congenital Facial Milia and Acral Blisters, Digital Contractures, and Nail Abnormalities 53
Absence of Dermatoglyphics Congenital Milia 53
Baird Syndrome 53

Classifications:



Summaries for Absence of Fingerprints Congenital Milia

NIH Rare Diseases : 53 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.

MalaCards based summary : Absence of Fingerprints Congenital Milia, also known as basan syndrome, is related to basan syndrome and adermatoglyphia. Affiliated tissues include skin, and related phenotypes are thin skin and hypohidrosis

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:

32 (show all 9)
# 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:

41
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

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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