MCID: STT008
MIFTS: 18

Steatocystoma Multiplex with Natal Teeth

Categories: Fetal diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Steatocystoma Multiplex with Natal Teeth

MalaCards integrated aliases for Steatocystoma Multiplex with Natal Teeth:

Name: Steatocystoma Multiplex with Natal Teeth 56 52
Steatocystoma Multiplex-Natal Teeth Syndrome 58 29
Natal Teeth and Steatocystoma Multiplex 52

Characteristics:

Orphanet epidemiological data:

58
steatocystoma multiplex-natal teeth syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
steatocystoma multiplex with natal teeth:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

OMIM 56 184510
MESH via Orphanet 44 C537487
ICD10 via Orphanet 33 L72.2
UMLS via Orphanet 72 C1866650
Orphanet 58 ORPHA3184
MedGen 41 C1866650

Summaries for Steatocystoma Multiplex with Natal Teeth

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3184 Definition The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth. Epidemiology It has been described a five-generation Chinese family with at least 21 affected patients. Genetic counseling The same condition has been reported in one additional sporadic case. Autosomal dominant inheritance has been suggested. Visit the Orphanet disease page for more resources.

MalaCards based summary : Steatocystoma Multiplex with Natal Teeth, also known as steatocystoma multiplex-natal teeth syndrome, is related to pachyonychia congenita 1 and steatocystoma multiplex. Affiliated tissues include skin, and related phenotypes are abnormality of the nail and natal tooth

More information from OMIM: 184510

Related Diseases for Steatocystoma Multiplex with Natal Teeth

Diseases related to Steatocystoma Multiplex with Natal Teeth via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pachyonychia congenita 1 10.4
2 steatocystoma multiplex 10.4
3 teeth present at birth 10.4
4 keratosis 10.3
5 hidradenitis suppurativa 10.3
6 hidradenitis 10.3
7 palmoplantar keratosis 10.3

Graphical network of the top 20 diseases related to Steatocystoma Multiplex with Natal Teeth:



Diseases related to Steatocystoma Multiplex with Natal Teeth

Symptoms & Phenotypes for Steatocystoma Multiplex with Natal Teeth

Human phenotypes related to Steatocystoma Multiplex with Natal Teeth:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the nail 31 HP:0001597
2 natal tooth 31 HP:0000695
3 steatocystoma multiplex 31 HP:0012035

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Nails:
normal nails

Skin Nails Hair Skin:
steatocystomas

Head And Neck Teeth:
natal teeth

Clinical features from OMIM:

184510

Drugs & Therapeutics for Steatocystoma Multiplex with Natal Teeth

Search Clinical Trials , NIH Clinical Center for Steatocystoma Multiplex with Natal Teeth

Genetic Tests for Steatocystoma Multiplex with Natal Teeth

Genetic tests related to Steatocystoma Multiplex with Natal Teeth:

# Genetic test Affiliating Genes
1 Steatocystoma Multiplex-Natal Teeth Syndrome 29

Anatomical Context for Steatocystoma Multiplex with Natal Teeth

MalaCards organs/tissues related to Steatocystoma Multiplex with Natal Teeth:

40
Skin

Publications for Steatocystoma Multiplex with Natal Teeth

Articles related to Steatocystoma Multiplex with Natal Teeth:

# Title Authors PMID Year
1
Natal teeth and steatocystoma multiplex: a newly recognized syndrome. 56 61
3429608 1987
2
Natal teeth and steatocystoma multiplex complicated by hidradenitis suppurativa. A new syndrome. 56 61
988984 1976

Variations for Steatocystoma Multiplex with Natal Teeth

Expression for Steatocystoma Multiplex with Natal Teeth

Search GEO for disease gene expression data for Steatocystoma Multiplex with Natal Teeth.

Pathways for Steatocystoma Multiplex with Natal Teeth

GO Terms for Steatocystoma Multiplex with Natal Teeth

Sources for Steatocystoma Multiplex with Natal Teeth

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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