SMMCI
MCID: OBS172
MIFTS: 16

Obsolete: Solitary Median Maxillary Central Incisor Syndrome (SMMCI)

Categories: Rare diseases

Aliases & Classifications for Obsolete: Solitary Median Maxillary Central Incisor Syndrome

MalaCards integrated aliases for Obsolete: Solitary Median Maxillary Central Incisor Syndrome:

Name: Obsolete: Solitary Median Maxillary Central Incisor Syndrome 59
Single Upper Central Incisor 59
Smmci 59

Characteristics:

Orphanet epidemiological data:

59
obsolete: solitary median maxillary central incisor syndrome
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Australia); Age of onset: Childhood;

Classifications:



External Ids:

Orphanet 59 ORPHA2286

Summaries for Obsolete: Solitary Median Maxillary Central Incisor Syndrome

MalaCards based summary : Obsolete: Solitary Median Maxillary Central Incisor Syndrome, also known as single upper central incisor, is related to solitary median maxillary central incisor and thumb deformity, alopecia, pigmentation anomaly. An important gene associated with Obsolete: Solitary Median Maxillary Central Incisor Syndrome is SHH (Sonic Hedgehog Signaling Molecule). Affiliated tissues include brain.

Related Diseases for Obsolete: Solitary Median Maxillary Central Incisor Syndrome

Diseases related to Obsolete: Solitary Median Maxillary Central Incisor Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 solitary median maxillary central incisor 12.2
2 thumb deformity, alopecia, pigmentation anomaly 12.0
3 choanal atresia, posterior 10.4
4 holoprosencephaly 10.4
5 hair whorl 10.1
6 strabismus 10.1
7 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.1
8 duodenal atresia 10.1
9 pseudovaginal perineoscrotal hypospadias 10.1
10 alacrima, achalasia, and mental retardation syndrome 10.1
11 scoliosis 10.1
12 hypothyroidism 10.1
13 vacterl association 10.1
14 ectodermal dysplasia 10.1
15 cleft lip 10.1
16 mechanical strabismus 10.1
17 hypopituitarism 10.1
18 diabetes insipidus 10.1
19 microcephaly 10.1
20 precocious puberty 10.1
21 thumb deformity and alopecia 10.0
22 keratosis 10.0

Graphical network of the top 20 diseases related to Obsolete: Solitary Median Maxillary Central Incisor Syndrome:



Diseases related to Obsolete: Solitary Median Maxillary Central Incisor Syndrome

Symptoms & Phenotypes for Obsolete: Solitary Median Maxillary Central Incisor Syndrome

Drugs & Therapeutics for Obsolete: Solitary Median Maxillary Central Incisor Syndrome

Search Clinical Trials , NIH Clinical Center for Obsolete: Solitary Median Maxillary Central Incisor Syndrome

Genetic Tests for Obsolete: Solitary Median Maxillary Central Incisor Syndrome

Anatomical Context for Obsolete: Solitary Median Maxillary Central Incisor Syndrome

MalaCards organs/tissues related to Obsolete: Solitary Median Maxillary Central Incisor Syndrome:

41
Brain

Publications for Obsolete: Solitary Median Maxillary Central Incisor Syndrome

Articles related to Obsolete: Solitary Median Maxillary Central Incisor Syndrome:

(show all 33)
# Title Authors PMID Year
1
The solitary median maxillary central incisor (SMMCI) syndrome: Associations, prenatal diagnosis, and outcomes. 38
30900264 2019
2
Congenital nasal pyriform aperture stenosis in association with solitary median maxillary central incisor: unique radiologic features. 38
27594945 2016
3
Solitary Median Maxillary Central Incisor Versus Agenesis of the Maxillary Central Incisor. 38
27098718 2016
4
Dental Items of Interest: The Case of Delphic Sibyl by Michelangelo: Solitary Median Maxillary Central Incisor or Mesiodens. 38
26930847 2015
5
Solitary median maxillary central incisor: A case report of a rare dental anomaly. 38
26015739 2015
6
[Solitary median maxillary central incisor syndrome:a case of report]. 38
24935855 2014
7
Solitary median maxillary central incisor syndrome associated with unique cleft palate: a rare case report. 38
24598504 2014
8
Solitary median maxillary central incisor syndrome (SMMCI) with congenital nasal puriform aperture stenosis: literature review and case report with comprehensive dental treatment and 14 years follow-up. 38
23775592 2013
9
Concomitant solitary median maxillary central incisor and fused right mandibular incisor in primary dentition. 38
23230364 2012
10
The primary Maxillary Central Incisor in the Solitary Median Maxillary Central Incisor syndrome. 38
22455533 2012
11
Solitary median maxillary central incisor: a report of 2 cases. 38
22583889 2012
12
Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome. 38
22138217 2012
13
Partial trisomy 1q (1q42.13-->qter) and partial monosomy 6q (6q27-->qter) in a girl with single median maxillary central incisor, corpus callosum dysgenesis and developmental delay. 38
23431743 2012
14
Solitary median maxillary central incisor in association with hemifacial microsomia: A rare case report and review of literature. 38
22346174 2011
15
Septopreoptic holoprosencephaly: a mild subtype associated with midline craniofacial anomalies. 38
20488907 2010
16
A case of solitary median maxillary central incisor (SMMCI) syndrome with bilateral pyriform aperture stenosis and choanal atresia. 38
20626079 2010
17
A case of solitary median maxillary central incisor (SMMCI) syndrome with bilateral pyriform aperture stenosis and choanal atresia. 38
20627328 2010
18
[Two cases of solitary median maxillary central incisor syndrome]. 38
20212404 2010
19
Brain malformation in single median maxillary central incisor. 38
20446222 2009
20
The neurocranial and craniofacial morphology in children with solitary median maxillary central incisor (SMMCI). 38
18416751 2008
21
Beware the solitary maxillary median central incisor. 38
18287390 2008
22
Single median maxillary central incisor: new data and mutation review. 38
17584896 2007
23
Solitary median maxillary central incisor in association with Goldenhar's syndrome: a case report. 38
17658185 2007
24
A new technique for symmetry determination in tooth morphology using image analysis: application in the diagnosis of solitary maxillary median central incisor. 38
16620774 2006
25
Solitary median maxillary central incisor (SMMCI) syndrome. 38
16722608 2006
26
Solitary median maxillary central incisor and normal stature: a report of three cases. 38
16430527 2006
27
DiGeorge syndrome associated with solitary median maxillary central incisor. 38
16252847 2005
28
Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation. 38
15107988 2004
29
Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog. 38
15103725 2004
30
Eruption of the central incisor, the intermaxillary suture, and maxillary growth in patients with a single median maxillary central incisor. 38
11831485 2001
31
SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature. 38
11471164 2001
32
Face, palate, and craniofacial morphology in patients with a solitary median maxillary central incisor. 38
11296511 2001
33
Solitary median maxillary central incisor, short stature, choanal atresia/midnasal stenosis (SMMCI) syndrome. 38
9431535 1997

Variations for Obsolete: Solitary Median Maxillary Central Incisor Syndrome

ClinVar genetic disease variations for Obsolete: Solitary Median Maxillary Central Incisor Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SHH NM_000193.4(SHH): c.331A> T (p.Ile111Phe) single nucleotide variant Pathogenic rs104894049 7:155599221-155599221 7:155806527-155806527
2 SHH NM_000193.4(SHH): c.995T> C (p.Val332Ala) single nucleotide variant Pathogenic rs104894052 7:155595988-155595988 7:155803294-155803294
3 SHH NM_000193.4(SHH): c.383G> A (p.Trp128Ter) single nucleotide variant Pathogenic rs104894053 7:155599169-155599169 7:155806475-155806475
4 SHH NM_000193.4(SHH): c.629G> A (p.Gly210Asp) single nucleotide variant Uncertain significance rs1554493882 7:155596354-155596354 7:155803660-155803660
5 SHH NM_000193.4(SHH): c.1147G> A (p.Ala383Thr) single nucleotide variant Uncertain significance rs137853341 7:155595836-155595836 7:155803142-155803142
6 SIX3 NM_005413.4(SIX3): c.109G> T (p.Gly37Cys) single nucleotide variant Benign/Likely benign rs199823175 2:45169352-45169352 2:44942213-44942213

Expression for Obsolete: Solitary Median Maxillary Central Incisor Syndrome

Search GEO for disease gene expression data for Obsolete: Solitary Median Maxillary Central Incisor Syndrome.

Pathways for Obsolete: Solitary Median Maxillary Central Incisor Syndrome

GO Terms for Obsolete: Solitary Median Maxillary Central Incisor Syndrome

Sources for Obsolete: Solitary Median Maxillary Central Incisor 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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