MCID: MLT104
MIFTS: 24

Multiple Benign Circumferential Skin Creases on Limbs

Categories: Skin diseases, Rare diseases

Aliases & Classifications for Multiple Benign Circumferential Skin Creases on Limbs

MalaCards integrated aliases for Multiple Benign Circumferential Skin Creases on Limbs:

Name: Multiple Benign Circumferential Skin Creases on Limbs 59
Circumferential Skin Creases, Kunze Type 59
Congenital Circumferential Skin Folds 59
Michelin Tire Baby Syndrome 73
Kunze-Riehm Syndrome 59
Ccsf 59

Characteristics:

Orphanet epidemiological data:

59
multiple benign circumferential skin creases on limbs
Inheritance: Autosomal dominant,Autosomal recessive;

Classifications:

Orphanet: 59  
Rare skin diseases


Summaries for Multiple Benign Circumferential Skin Creases on Limbs

MalaCards based summary : Multiple Benign Circumferential Skin Creases on Limbs, also known as circumferential skin creases, kunze type, is related to skin creases, congenital symmetric circumferential, 1. An important gene associated with Multiple Benign Circumferential Skin Creases on Limbs is TUBB (Tubulin Beta Class I). Affiliated tissues include skin and heart, and related phenotypes are inguinal hernia and cryptorchidism

Related Diseases for Multiple Benign Circumferential Skin Creases on Limbs

Diseases related to Multiple Benign Circumferential Skin Creases on Limbs via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 skin creases, congenital symmetric circumferential, 1 11.7

Symptoms & Phenotypes for Multiple Benign Circumferential Skin Creases on Limbs

Human phenotypes related to Multiple Benign Circumferential Skin Creases on Limbs:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
2 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
3 scrotal hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000046
4 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
5 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
6 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
7 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
8 long philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000343
9 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
10 low-set, posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000368
11 microcornea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000482
12 retinopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000488
13 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
14 edema 59 32 hallmark (90%) Very frequent (99-80%) HP:0000969
15 thickened skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001072
16 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
17 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
18 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
19 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
20 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230
21 abnormality of the musculature 59 32 occasional (7.5%) Occasional (29-5%) HP:0003011
22 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
23 localized neuroblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0006768
24 irregular hyperpigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007400
25 increased number of skin folds 59 32 hallmark (90%) Very frequent (99-80%) HP:0007522
26 external ear malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0008572
27 lower limb asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0100559
28 upper limb asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0100560
29 abnormality of the scrotum 59 Occasional (29-5%)
30 abnormality of the face 59 Occasional (29-5%)

GenomeRNAi Phenotypes related to Multiple Benign Circumferential Skin Creases on Limbs according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.47 MAPRE2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.47 TUBB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.47 TUBB
4 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.47 MAPRE2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.47 TUBB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.47 MAPRE2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.47 MAPRE2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.47 MAPRE2 TUBB
9 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.47 TUBB
10 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.47 TUBB
11 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.47 MAPRE2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.47 TUBB
13 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.47 MAPRE2

Drugs & Therapeutics for Multiple Benign Circumferential Skin Creases on Limbs

Search Clinical Trials , NIH Clinical Center for Multiple Benign Circumferential Skin Creases on Limbs

Genetic Tests for Multiple Benign Circumferential Skin Creases on Limbs

Anatomical Context for Multiple Benign Circumferential Skin Creases on Limbs

MalaCards organs/tissues related to Multiple Benign Circumferential Skin Creases on Limbs:

41
Skin, Heart

Publications for Multiple Benign Circumferential Skin Creases on Limbs

Articles related to Multiple Benign Circumferential Skin Creases on Limbs:

# Title Authors Year
1
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. ( 26637975 )
2015

Variations for Multiple Benign Circumferential Skin Creases on Limbs

ClinVar genetic disease variations for Multiple Benign Circumferential Skin Creases on Limbs:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TUBB NM_178014.3(TUBB): c.43C> A (p.Gln15Lys) single nucleotide variant Pathogenic rs864321676 GRCh37 Chromosome 6, 30688326: 30688326
2 TUBB NM_178014.3(TUBB): c.43C> A (p.Gln15Lys) single nucleotide variant Pathogenic rs864321676 GRCh38 Chromosome 6, 30720549: 30720549
3 TUBB NM_178014.3(TUBB): c.665A> T (p.Tyr222Phe) single nucleotide variant Pathogenic rs864321677 GRCh37 Chromosome 6, 30691504: 30691504
4 TUBB NM_178014.3(TUBB): c.665A> T (p.Tyr222Phe) single nucleotide variant Pathogenic rs864321677 GRCh38 Chromosome 6, 30723727: 30723727

Expression for Multiple Benign Circumferential Skin Creases on Limbs

Search GEO for disease gene expression data for Multiple Benign Circumferential Skin Creases on Limbs.

Pathways for Multiple Benign Circumferential Skin Creases on Limbs

GO Terms for Multiple Benign Circumferential Skin Creases on Limbs

Cellular components related to Multiple Benign Circumferential Skin Creases on Limbs according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 8.96 MAPRE2 TUBB
2 microtubule GO:0005874 8.62 MAPRE2 TUBB

Biological processes related to Multiple Benign Circumferential Skin Creases on Limbs according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 8.62 MAPRE2 TUBB

Sources for Multiple Benign Circumferential Skin Creases on Limbs

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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