CCSF
MCID: MLT104
MIFTS: 28

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 12 58
Circumferential Skin Creases, Kunze Type 12 58
Congenital Circumferential Skin Folds 12 58
Kunze-Riehm Syndrome 12 58
Ccsf 12 58
Michelin Tire Baby Syndrome 70
Kunze Riehm Syndrome 6

Characteristics:

Orphanet epidemiological data:

58
multiple benign circumferential skin creases on limbs
Inheritance: Autosomal dominant,Autosomal recessive;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0112241
MESH via Orphanet 45 C537575
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 71 C0473586
Orphanet 58 ORPHA2505
UMLS 70 C0473586

Summaries for Multiple Benign Circumferential Skin Creases on Limbs

Disease Ontology : 12 A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin.

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 and skin creases, congenital symmetric circumferential, 2. 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 thickened skin and edema

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 11.5
2 skin creases, congenital symmetric circumferential, 2 11.5
3 alacrima, achalasia, and mental retardation syndrome 10.6
4 cleft palate, isolated 10.5
5 tubulinopathy 10.5
6 microcephaly 10.3
7 ventricular septal defect 10.1
8 heart septal defect 10.1
9 holoprosencephaly 10.1

Graphical network of the top 20 diseases related to Multiple Benign Circumferential Skin Creases on Limbs:



Diseases related to Multiple Benign Circumferential Skin Creases on Limbs

Symptoms & Phenotypes for Multiple Benign Circumferential Skin Creases on Limbs

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

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thickened skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001072
2 edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0000969
3 increased number of skin folds 58 31 hallmark (90%) Very frequent (99-80%) HP:0007522
4 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
5 irregular hyperpigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007400
6 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
7 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
8 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
9 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
10 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
11 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
12 retinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000488
13 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
14 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
15 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
16 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
17 external ear malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0008572
18 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
19 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
20 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
21 generalized hirsutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002230
22 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
23 microcornea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000482
24 lower limb asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0100559
25 scrotal hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000046
26 upper limb asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0100560
27 abnormality of the musculature 58 31 occasional (7.5%) Occasional (29-5%) HP:0003011
28 localized neuroblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0006768
29 abnormality of the face 58 Occasional (29-5%)
30 abnormality of the scrotum 58 Occasional (29-5%)

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

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-1 9.47 MAPRE2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.47 TUBB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-144 9.47 MAPRE2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.47 TUBB
5 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.47 TUBB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.47 TUBB
7 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.47 TUBB
8 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.47 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-72 9.47 MAPRE2
14 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:

40
Skin, Heart

Publications for Multiple Benign Circumferential Skin Creases on Limbs

Articles related to Multiple Benign Circumferential Skin Creases on Limbs:

# Title Authors PMID Year
1
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. 6
26637975 2015
2
Circumferential skin folds and multiple anomalies: confirmation of a distinct autosomal recessive Michelin tire baby syndrome. 6
23324645 2013
3
A second patient with MCA/MR syndrome with multiple circumferential skin creases. 6
12239728 2002
4
A Rare Case of Michelin Tire Baby Syndrome in a Newborn. 61
29696100 2018
5
Multiple benign circumferential skin creases on limbs--a congenital anomaly existing from the beginning of mankind. 61
3674112 1987

Variations for Multiple Benign Circumferential Skin Creases on Limbs

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TUBB NM_178014.4(TUBB):c.665A>T (p.Tyr222Phe) SNV Pathogenic 218926 rs864321677 GRCh37: 6:30691504-30691504
GRCh38: 6:30723727-30723727
2 TUBB NM_178014.4(TUBB):c.43C>A (p.Gln15Lys) SNV Pathogenic 218925 rs864321676 GRCh37: 6:30688326-30688326
GRCh38: 6:30720549-30720549
3 TUBB NM_178014.4(TUBB):c.161C>T (p.Ala54Val) SNV Uncertain significance 1031753 GRCh37: 6:30690417-30690417
GRCh38: 6:30722640-30722640

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 TUBB MAPRE2
2 microtubule GO:0005874 8.62 TUBB MAPRE2

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 TUBB MAPRE2
2 spindle assembly GO:0051225 8.62 TUBB MAPRE2

Sources for Multiple Benign Circumferential Skin Creases on Limbs

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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