MCID: RMB001
MIFTS: 29

Rombo Syndrome

Categories: Cancer diseases, Rare diseases, Skin diseases

Aliases & Classifications for Rombo Syndrome

MalaCards integrated aliases for Rombo Syndrome:

Name: Rombo Syndrome 57 75 53 59 72
Vermiculate Atrophoderma, Milia, Hypotrichosis, Trichoepitheliomas, Basal Cell Carcinomas and Peripheral Vasodilation with Cyanosis 53

Characteristics:

Orphanet epidemiological data:

59
rombo syndrome
Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
rombo syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 180730
MESH via Orphanet 45 C535870
ICD10 via Orphanet 34 L98.8
UMLS via Orphanet 73 C1867147
Orphanet 59 ORPHA3110
MedGen 42 C1867147
UMLS 72 C1867147

Summaries for Rombo Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3110DefinitionRombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.EpidemiologyIt has been described in four generations of one family and in two additional sporadic cases.Clinical descriptionThe skin lesions become visible between 7 and 10 years of age and are most pronounced on the face. Basal cell carcinomas are frequent and develop at around 35 years of age.EtiologyThe etiology remains unknown.Visit the Orphanet disease page for more resources.

MalaCards based summary : Rombo Syndrome, also known as vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis, is related to bazex syndrome and basal cell carcinoma 1, and has symptoms including cyanosis Affiliated tissues include skin, and related phenotypes are basal cell carcinoma and facial telangiectasia

Wikipedia : 75 Rombo syndrome is a very rare genetic disorder characterized mainly by atrophoderma vermiculatum of the... more...

More information from OMIM: 180730

Related Diseases for Rombo Syndrome

Diseases related to Rombo Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 bazex syndrome 11.4
2 basal cell carcinoma 1 11.3
3 skin atrophy 10.3
4 atrophoderma vermiculata 10.1
5 cyanosis, transient neonatal 10.1
6 hypotrichosis 10.1

Graphical network of the top 20 diseases related to Rombo Syndrome:



Diseases related to Rombo Syndrome

Symptoms & Phenotypes for Rombo Syndrome

Human phenotypes related to Rombo Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 basal cell carcinoma 32 HP:0002671
2 facial telangiectasia 32 HP:0007380
3 abnormal eyelash morphology 32 HP:0000499
4 abnormal eyebrow morphology 32 HP:0000534

Symptoms via clinical synopsis from OMIM:

57
Skin:
cyanotic redness of lips and hands
follicular skin atrophy of cheeks
whitish-yellow, milia-like facial papules
facial telangiectatic vessels
vermiculate atrophoderma

Oncology:
basal cell carcinomas
trichoepitheliomas

Lab:
elastin loss and clumping in skin

Hair:
absent/abnormal eyelashes and eyebrows

Misc:
skin change onset at ages 7 to 10 years

Clinical features from OMIM:

180730

UMLS symptoms related to Rombo Syndrome:


cyanosis

Drugs & Therapeutics for Rombo Syndrome

Search Clinical Trials , NIH Clinical Center for Rombo Syndrome

Genetic Tests for Rombo Syndrome

Anatomical Context for Rombo Syndrome

MalaCards organs/tissues related to Rombo Syndrome:

41
Skin

Publications for Rombo Syndrome

Articles related to Rombo Syndrome:

# Title Authors PMID Year
1
A case of Rombo syndrome. 38 8
11422044 2001
2
The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. 38 8
6177160 1981
3
Skin Cancer Associated Genodermatoses: A Literature Review. 38
30653245 2019
4
Hereditary tumour syndromes featuring basal cell carcinomas. 38
21428980 2011
5
Sweat duct proliferation associated with aggregates of elastic tissue and atrophodermia vermiculata: a simulator of microcystic adnexal carcinoma. Report of two cases. 38
20175822 2010
6
Familial syndromes with skin tumor markers. 38
7944188 1994
7
Rombo syndrome: a second case report and review. 38
8496444 1993

Variations for Rombo Syndrome

Cosmic variations for Rombo Syndrome:

9 (show top 50) (show all 1049)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM44097 TP53 skin,face,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 8
2 COSM44295 TP53 skin,face,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 8
3 COSM10939 TP53 skin,face,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 8
4 COSM10662 TP53 skin,face,carcinoma,basal cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 8
5 COSM11449 TP53 skin,face,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 8
6 COSM44068 TP53 skin,face,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 8
7 COSM10654 TP53 skin,face,carcinoma,basal cell carcinoma c.637C>T p.R213* 17:7674894-7674894 8
8 COSM10726 TP53 skin,face,carcinoma,basal cell carcinoma c.856G>A p.E286K 17:7673764-7673764 8
9 COSM10992 TP53 skin,face,carcinoma,basal cell carcinoma c.844C>G p.R282G 17:7673776-7673776 8
10 COSM45733 TP53 skin,face,carcinoma,basal cell carcinoma c.432G>A p.Q144Q 17:7675180-7675180 8
11 COSM12296 TP53 skin,lip,carcinoma,basal cell carcinoma c.292C>T p.P98S 17:7676077-7676077 8
12 COSM43700 TP53 skin,face,carcinoma,basal cell carcinoma c.712T>A p.C238S 17:7674251-7674251 8
13 COSM44227 TP53 skin,face,carcinoma,basal cell carcinoma c.854A>T p.E285V 17:7673766-7673766 8
14 COSM44435 TP53 skin,face,carcinoma,basal cell carcinoma c.96+1G>A p.? 17:7676381-7676381 8
15 COSM43920 TP53 skin,face,carcinoma,basal cell carcinoma c.680C>T p.S227F 17:7674283-7674283 8
16 COSM44436 TP53 skin,face,carcinoma,basal cell carcinoma c.375+2T>C p.? 17:7675992-7675992 8
17 COSM43596 TP53 skin,face,carcinoma,basal cell carcinoma c.841G>A p.D281N 17:7673779-7673779 8
18 COSM11084 TP53 skin,face,carcinoma,basal cell carcinoma c.517G>A p.V173M 17:7675095-7675095 8
19 COSM43742 TP53 skin,face,carcinoma,basal cell carcinoma c.419C>T p.T140I 17:7675193-7675193 8
20 COSM10887 TP53 skin,face,carcinoma,basal cell carcinoma c.833C>G p.P278R 17:7673787-7673787 8
21 COSM44241 TP53 skin,face,carcinoma,basal cell carcinoma c.592G>T p.E198* 17:7674939-7674939 8
22 COSM44552 TP53 skin,face,carcinoma,basal cell carcinoma c.509C>T p.T170M 17:7675103-7675103 8
23 COSM13233 SUFU skin,face,carcinoma,basal cell carcinoma c.591C>T p.F197F 10:102592718-102592718 8
24 COSM13234 SUFU skin,face,carcinoma,basal cell carcinoma c.560C>T p.P187L 10:102592687-102592687 8
25 COSM3942016 SMO skin,face,carcinoma,basal cell carcinoma c.1376C>T p.A459V 7:129209307-129209307 8
26 COSM13145 SMO skin,face,carcinoma,basal cell carcinoma c.595C>T p.R199W 7:129205260-129205260 8
27 COSM216037 SMO skin,face,carcinoma,basal cell carcinoma c.1234C>T p.L412F 7:129206557-129206557 8
28 COSM13144 SMO skin,face,carcinoma,basal cell carcinoma c.1598G>A p.S533N 7:129210494-129210494 8
29 COSM13240 SMO skin,face,carcinoma,basal cell carcinoma c.1955C>T p.A652V 7:129212042-129212042 8
30 COSM17598 PTCH1 skin,face,carcinoma,basal cell carcinoma c.550C>T p.Q184* 9:95485719-95485719 8
31 COSM17495 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1229G>A p.S410N 9:95478173-95478173 8
32 COSM17511 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3583A>T p.T1195S 9:95449290-95449290 8
33 COSM17522 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3586C>T p.P1196S 9:95449287-95449287 8
34 COSM17596 PTCH1 skin,hand,carcinoma,basal cell carcinoma c.863G>A p.G288D 9:95480472-95480472 8
35 COSM14439 PTCH1 skin,face,carcinoma,basal cell carcinoma c.992C>T p.S331F 9:95480044-95480044 8
36 COSM17584 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2105C>T p.P702L 9:95468896-95468896 8
37 COSM14446 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3054G>A p.W1018* 9:95458127-95458127 8
38 COSM17532 PTCH1 skin,face,carcinoma,basal cell carcinoma c.768G>A p.W256* 9:95480567-95480567 8
39 COSM26377 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3449+1G>A p.? 9:95453477-95453477 8
40 COSM17473 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2308C>T p.R770* 9:95467368-95467368 8
41 COSM17599 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2120C>T p.S707F 9:95468881-95468881 8
42 COSM17533 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2251-1G>A p.? 9:95467426-95467426 8
43 COSM29033 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2038G>T p.E680* 9:95468963-95468963 8
44 COSM29043 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1634G>A p.G545E 9:95476128-95476128 8
45 COSM29071 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3549+5G>A p.? 9:95449836-95449836 8
46 COSM29046 PTCH1 skin,face,carcinoma,basal cell carcinoma c.747-1G>A p.? 9:95480589-95480589 8
47 COSM26363 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2446C>T p.Q816* 9:95467230-95467230 8
48 COSM17597 PTCH1 skin,hand,carcinoma,basal cell carcinoma c.1977G>A p.Q659Q 9:95469024-95469024 8
49 COSM17582 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1082A>C p.Q361P 9:95479133-95479133 8
50 COSM29040 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2693A>G p.D898G 9:95461866-95461866 8

Expression for Rombo Syndrome

Search GEO for disease gene expression data for Rombo Syndrome.

Pathways for Rombo Syndrome

GO Terms for Rombo Syndrome

Sources for Rombo Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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