MCID: RMB001
MIFTS: 31

Rombo Syndrome

Categories: Cancer diseases, Rare diseases, Skin diseases

Aliases & Classifications for Rombo Syndrome

MalaCards integrated aliases for Rombo Syndrome:

Name: Rombo Syndrome 56 74 52 58 71
Vermiculate Atrophoderma, Milia, Hypotrichosis, Trichoepitheliomas, Basal Cell Carcinomas and Peripheral Vasodilation with Cyanosis 52

Characteristics:

Orphanet epidemiological data:

58
rombo syndrome
Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
rombo syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 180730
MESH via Orphanet 44 C535870
ICD10 via Orphanet 33 L98.8
UMLS via Orphanet 72 C1867147
Orphanet 58 ORPHA3110
MedGen 41 C1867147
UMLS 71 C1867147

Summaries for Rombo Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3110 Definition Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas. Epidemiology It has been described in four generations of one family and in two additional sporadic cases. Clinical description The 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. Etiology The 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 The drugs Antihypertensive Agents and Veratrum Alkaloids have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are basal cell carcinoma and facial telangiectasia

Wikipedia : 74 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 10.2
5 cyanosis, transient neonatal 10.2
6 hypotrichosis 10.2

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:

31
# Description HPO Frequency HPO Source Accession
1 basal cell carcinoma 31 HP:0002671
2 facial telangiectasia 31 HP:0007380
3 abnormal eyelash morphology 31 HP:0000499
4 abnormal eyebrow morphology 31 HP:0000534

Symptoms via clinical synopsis from OMIM:

56
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

Drugs for Rombo Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antihypertensive Agents Phase 2
2 Veratrum Alkaloids Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Multicenter, Randomized, Double Blind, Vehicle-controlled, Phase 2 Efficacy and Safety Study of Patidegib Topical Gel, 2%, for the Reduction of Disease Burden of Persistently Developing Basal Cell Carcinomas (BCCs) in Patients With Non-Gorlin High Frequency BCC Recruiting NCT04155190 Phase 2 Patidegib Topical Gel, 2%;Patidegib Topical Gel, Vehicle

Search NIH Clinical Center for Rombo Syndrome

Genetic Tests for Rombo Syndrome

Anatomical Context for Rombo Syndrome

MalaCards organs/tissues related to Rombo Syndrome:

40
Skin

Publications for Rombo Syndrome

Articles related to Rombo Syndrome:

# Title Authors PMID Year
1
A case of Rombo syndrome. 61 56
11422044 2001
2
The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. 61 56
6177160 1981
3
Skin Cancer Associated Genodermatoses: A Literature Review. 61
30653245 2019
4
Hereditary tumour syndromes featuring basal cell carcinomas. 61
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. 61
20175822 2010
6
Familial syndromes with skin tumor markers. 61
7944188 1994
7
Rombo syndrome: a second case report and review. 61
8496444 1993

Variations for Rombo Syndrome

Cosmic variations for Rombo Syndrome:

9 (show top 50) (show all 3938)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87963219 TP53 skin,lip,carcinoma,basal cell carcinoma c.292C>T p.P98S 17:7676077-7676077 8
2 COSM87898991 TP53 skin,face,carcinoma,basal cell carcinoma c.535C>T p.H179Y 17:7675077-7675077 8
3 COSM87899497 TP53 skin,face,carcinoma,basal cell carcinoma c.586C>T p.R196* 17:7674945-7674945 8
4 COSM87906130 TP53 skin,face,carcinoma,basal cell carcinoma c.854A>T p.E285V 17:7673766-7673766 8
5 COSM87944274 TP53 skin,face,carcinoma,basal cell carcinoma c.419C>T p.T140I 17:7675193-7675193 8
6 COSM87903307 TP53 skin,face,carcinoma,basal cell carcinoma c.841G>A p.D281N 17:7673779-7673779 8
7 COSM87961406 TP53 skin,face,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 8
8 COSM87918616 TP53 skin,face,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 8
9 COSM87911563 TP53 skin,face,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 8
10 COSM87919309 TP53 skin,face,carcinoma,basal cell carcinoma c.509C>T p.T170M 17:7675103-7675103 8
11 COSM87900604 TP53 skin,face,carcinoma,basal cell carcinoma c.637C>T p.R213* 17:7674894-7674894 8
12 COSM87898424 TP53 skin,face,carcinoma,basal cell carcinoma c.722C>T p.S241F 17:7674241-7674241 8
13 COSM87897850 TP53 skin,face,carcinoma,basal cell carcinoma c.833C>G p.P278R 17:7673787-7673787 8
14 COSM87899049 TP53 skin,face,carcinoma,basal cell carcinoma c.96+1G>A p.? 17:7676381-7676381 8
15 COSM87900565 TP53 skin,face,carcinoma,basal cell carcinoma c.1024C>T p.R342* 17:7670685-7670685 8
16 COSM87915380 TP53 skin,face,carcinoma,basal cell carcinoma c.830G>T p.C277F 17:7673790-7673790 8
17 COSM87906983 TP53 skin,face,carcinoma,basal cell carcinoma c.592G>T p.E198* 17:7674939-7674939 8
18 COSM87899906 TP53 skin,face,carcinoma,basal cell carcinoma c.375+2T>C p.? 17:7675992-7675992 8
19 COSM87898544 TP53 skin,face,carcinoma,basal cell carcinoma c.680C>T p.S227F 17:7674283-7674283 8
20 COSM87906806 TP53 skin,face,carcinoma,basal cell carcinoma c.517G>A p.V173M 17:7675095-7675095 8
21 COSM88110742 TP53 skin,face,carcinoma,basal cell carcinoma c.432G>A p.Q144= 17:7675180-7675180 8
22 COSM87919221 TP53 skin,face,carcinoma,basal cell carcinoma c.844C>G p.R282G 17:7673776-7673776 8
23 COSM93619372 SUFU skin,face,carcinoma,basal cell carcinoma c.591C>T p.F197= 10:102592718-102592718 8
24 COSM93618837 SUFU skin,face,carcinoma,basal cell carcinoma c.560C>T p.P187L 10:102592687-102592687 8
25 COSM84675948 SMO skin,face,carcinoma,basal cell carcinoma c.595C>T p.R199W 7:129205260-129205260 8
26 COSM84675839 SMO skin,face,carcinoma,basal cell carcinoma c.1598G>A p.S533N 7:129210494-129210494 8
27 COSM84680970 SMO skin,face,carcinoma,basal cell carcinoma c.1955C>T p.A652V 7:129212042-129212042 8
28 COSM84674216 SMO skin,face,carcinoma,basal cell carcinoma c.1234C>T p.L412F 7:129206557-129206557 8
29 COSM90854979 PTCH1 skin,face,carcinoma,basal cell carcinoma c.992C>T p.S331F 9:95480044-95480044 8
30 COSM90852698 PTCH1 skin,face,carcinoma,basal cell carcinoma c.754C>T p.P252S 9:95480581-95480581 8
31 COSM90853744 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3586C>T p.P1196S 9:95449287-95449287 8
32 COSM90834102 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3054G>A p.W1018* 9:95458127-95458127 8
33 COSM90852395 PTCH1 skin,face,carcinoma,basal cell carcinoma c.584G>A p.R195K 9:95485685-95485685 8
34 COSM90854453 PTCH1 skin,hand,carcinoma,basal cell carcinoma c.1922C>T p.P641L 9:95469079-95469079 8
35 COSM90855093 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1433C>T p.A478V 9:95477617-95477617 8
36 COSM90853904 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1068-2A>T p.? 9:95479149-95479149 8
37 COSM90828160 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3209T>G p.M1070R 9:95456373-95456373 8
38 COSM90828994 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2072C>T p.T691I 9:95468929-95468929 8
39 COSM90846148 PTCH1 skin,face,carcinoma,basal cell carcinoma c.493G>T p.E165* 9:95485776-95485776 8
40 COSM90844669 PTCH1 skin,face,carcinoma,basal cell carcinoma c.994A>T p.R332* 9:95480042-95480042 8
41 COSM90854934 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1085C>T p.T362I 9:95479130-95479130 8
42 COSM90844191 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2693A>G p.D898G 9:95461866-95461866 8
43 COSM90854545 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2308C>T p.R770* 9:95467368-95467368 8
44 COSM90851307 PTCH1 skin,hand,carcinoma,basal cell carcinoma c.863G>A p.G288D 9:95480472-95480472 8
45 COSM90828875 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1347+1G>A p.? 9:95478054-95478054 8
46 COSM90831552 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3583A>T p.T1195S 9:95449290-95449290 8
47 COSM90852797 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2965G>T p.E989* 9:95458216-95458216 8
48 COSM90837919 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2050G>T p.E684* 9:95468951-95468951 8
49 COSM90852654 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1082A>C p.Q361P 9:95479133-95479133 8
50 COSM90829040 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1854C>A p.C618* 9:95469147-95469147 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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