CCSF
MCID: MLT104
MIFTS: 25

Multiple Benign Circumferential Skin Creases on Limbs (CCSF)

Categories: Rare diseases, Skin 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 intellectual disability and inguinal hernia

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 11.8

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 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
2 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
3 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
4 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
5 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
6 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
7 retinopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000488
8 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
9 long philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000343
10 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
11 edema 59 32 hallmark (90%) Very frequent (99-80%) HP:0000969
12 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
13 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
14 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230
15 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
16 external ear malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0008572
17 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
18 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
19 low-set, posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000368
20 irregular hyperpigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007400
21 abnormality of the musculature 59 32 occasional (7.5%) Occasional (29-5%) HP:0003011
22 thickened skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001072
23 lower limb asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0100559
24 microcornea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000482
25 scrotal hypoplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000046
26 upper limb asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0100560
27 localized neuroblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0006768
28 increased number of skin folds 59 32 hallmark (90%) Very frequent (99-80%) HP:0007522
29 abnormality of the face 59 Occasional (29-5%)
30 abnormality of the scrotum 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
2
Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: "circumferential skin creases Kunze type". ( 21262397 )
2011

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 8.96 MAPRE2 TUBB
2 spindle assembly GO:0051225 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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