SMMCI
MCID: SLT005
MIFTS: 28

Solitary Median Maxillary Central Incisor (SMMCI)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Solitary Median Maxillary Central Incisor

MalaCards integrated aliases for Solitary Median Maxillary Central Incisor:

Name: Solitary Median Maxillary Central Incisor 58 54 76 74
Single Upper Central Incisor 58 54 41
Smmci 58 54 76
Solitary Median Maxillary Central Incisor Syndrome 54 38
Single Median Maxillary Central Incisor 58 13
Single Central Maxillary Incisor 58 54
Fused Incisors 58 54
Incisors Fused 77 54
Incisors, Fused 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
smcci can be an isolated anomaly, part of a syndrome or association as in vacterl and charge , part of autosomal dominant holoprosencephaly spectrum such as in hpe3 , hpe2 , and hpe4 , or a feature in chromosomal abnormalities such as del(18p) and del(7)(q36->qter)


HPO:

33
solitary median maxillary central incisor:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Solitary Median Maxillary Central Incisor

UniProtKB/Swiss-Prot : 76 Solitary median maxillary central incisor: Rare dental anomaly characterized by the congenital absence of one maxillary central incisor.

MalaCards based summary : Solitary Median Maxillary Central Incisor, also known as single upper central incisor, is related to incisors, fused mandibular and thumb deformity, alopecia, pigmentation anomaly. An important gene associated with Solitary Median Maxillary Central Incisor is SHH (Sonic Hedgehog Signaling Molecule), and among its related pathways/superpathways is Hedgehog signaling pathway. Affiliated tissues include pituitary, and related phenotypes are holoprosencephaly and microcephaly

Wikipedia : 77 Tooth fusion arises through union of two normally separated tooth germs, and depending upon the stage of... more...

Description from OMIM: 147250

Related Diseases for Solitary Median Maxillary Central Incisor

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

(show all 19)
# Related Disease Score Top Affiliating Genes
1 incisors, fused mandibular 12.5
2 thumb deformity, alopecia, pigmentation anomaly 11.9
3 choanal atresia, posterior 10.5
4 holoprosencephaly 10.4
5 growth hormone deficiency 10.4
6 cleft palate, isolated 10.2
7 hemifacial microsomia 10.2
8 digeorge syndrome 10.2
9 duane-radial ray syndrome 10.2
10 duane retraction syndrome 10.2
11 pituitary stalk interruption syndrome 10.2
12 isolated duane retraction syndrome 10.2
13 townes-brocks syndrome 10.2
14 1q duplications 10.2
15 chromosomal triplication 10.2
16 trisomy 1q 10.2
17 pituitary hypoplasia 10.1
18 xp22.3 microdeletion syndrome 10.1
19 ectodermal dysplasia 10.0

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



Diseases related to Solitary Median Maxillary Central Incisor

Symptoms & Phenotypes for Solitary Median Maxillary Central Incisor

Human phenotypes related to Solitary Median Maxillary Central Incisor:

33 (show all 21)
# Description HPO Frequency HPO Source Accession
1 holoprosencephaly 33 frequent (33%) HP:0001360
2 microcephaly 33 occasional (7.5%) HP:0000252
3 microphthalmia 33 occasional (7.5%) HP:0000568
4 anophthalmia 33 occasional (7.5%) HP:0000528
5 anosmia 33 occasional (7.5%) HP:0000458
6 cyclopia 33 occasional (7.5%) HP:0009914
7 coloboma 33 occasional (7.5%) HP:0000589
8 short stature 33 very rare (1%) HP:0004322
9 intellectual disability, mild 33 very rare (1%) HP:0001256
10 specific learning disability 33 very rare (1%) HP:0001328
11 choanal atresia 33 very rare (1%) HP:0000453
12 hypotelorism 33 very rare (1%) HP:0000601
13 cleft upper lip 33 very rare (1%) HP:0000204
14 single median maxillary incisor 33 very rare (1%) HP:0006315
15 abnormality of chromosome segregation 33 very rare (1%) HP:0002916
16 growth hormone deficiency 33 very rare (1%) HP:0000824
17 midnasal stenosis 33 very rare (1%) HP:0010644
18 prominent median palatal raphe 33 very rare (1%) HP:0002708
19 abnormality of the nasopharynx 33 very rare (1%) HP:0001739
20 torus palatinus 33 HP:0100789
21 pyriform aperture stenosis 33 HP:0025011

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
microcephaly

Respiratory Nasopharynx:
choanal atresia
midnasal stenosis
congenital nasal pyriform aperture stenosis

Endocrine Features:
hypopituitarism
isolated growth hormone deficiency

Head And Neck Teeth:
single median maxillary central incisor (smmci)

Growth Height:
short stature

Head And Neck Eyes:
hypotelorism

Head And Neck Mouth:
prominent midpalatal ridge (torus palatinus)

Clinical features from OMIM:

147250

Drugs & Therapeutics for Solitary Median Maxillary Central Incisor

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

Genetic Tests for Solitary Median Maxillary Central Incisor

Anatomical Context for Solitary Median Maxillary Central Incisor

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

42
Pituitary

Publications for Solitary Median Maxillary Central Incisor

Articles related to Solitary Median Maxillary Central Incisor:

(show all 37)
# Title Authors Year
1
The solitary median maxillary central incisor (SMMCI) syndrome: Associations, prenatal diagnosis, and outcomes. ( 30900264 )
2019
2
Solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report. ( 29333838 )
2018
3
Solitary Median Maxillary Central Incisor Versus Agenesis of the Maxillary Central Incisor. ( 27098718 )
2016
4
Congenital nasal pyriform aperture stenosis in association with solitary median maxillary central incisor: unique radiologic features. ( 27594945 )
2016
5
Solitary median maxillary central incisor: A case report of a rare dental anomaly. ( 26015739 )
2015
6
Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome. ( 26080100 )
2015
7
Solitary Median Maxillary Central Incisor. ( 26138879 )
2015
8
Dental Items of Interest: The Case of Delphic Sibyl by Michelangelo: Solitary Median Maxillary Central Incisor or Mesiodens. ( 26930847 )
2015
9
Solitary median maxillary central incisor syndrome associated with unique cleft palate: a rare case report. ( 24598504 )
2014
10
Clinical course and implications of congenital nasal pyriform stenosis and solitary median maxillary central incisor in a newborn: a case report. ( 24950703 )
2014
11
Premolar transplantation in a patient with solitary median maxillary central incisor syndrome. ( 25432260 )
2014
12
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. ( 23775592 )
2013
13
Solitary median maxillary central incisor, a clinical predictor of hypoplastic anterior pituitary, ectopic neurohypophysis and growth hormone deficiency. ( 23729612 )
2013
14
Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome. ( 22138217 )
2012
15
The primary Maxillary Central Incisor in the Solitary Median Maxillary Central Incisor syndrome. ( 22455533 )
2012
16
Solitary median maxillary central incisor: a report of 2 cases. ( 22583889 )
2012
17
Concomitant solitary median maxillary central incisor and fused right mandibular incisor in primary dentition. ( 23230364 )
2012
18
Solitary median maxillary central incisor in association with hemifacial microsomia: A rare case report and review of literature. ( 22346174 )
2011
19
Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: a unique combination of features. ( 21167328 )
2011
20
A case of solitary median maxillary central incisor (SMMCI) syndrome with bilateral pyriform aperture stenosis and choanal atresia. ( 20626079 )
2010
21
A case of solitary median maxillary central incisor (SMMCI) syndrome with bilateral pyriform aperture stenosis and choanal atresia. ( 20627328 )
2010
22
Palatal expansion in a patient with solitary median maxillary central incisor syndrome. ( 20889056 )
2010
23
Solitary median maxillary central incisor syndrome and holoprosencephaly: a case report. ( 21070710 )
2010
24
Solitary median maxillary central incisor. ( 19341585 )
2009
25
Solitary median maxillary central incisor syndrome occurring together with oromandibular-limb hypogenesis syndrome type 1: a case report of this previously unreported combination of syndromes. ( 18328045 )
2008
26
The neurocranial and craniofacial morphology in children with solitary median maxillary central incisor (SMMCI). ( 18416751 )
2008
27
Prenatal diagnosis of solitary median maxillary central incisor syndrome by magnetic resonance imaging. ( 18570243 )
2008
28
Solitary median maxillary central incisor in association with Goldenhar's syndrome: a case report. ( 17658185 )
2007
29
Solitary median maxillary central incisor and normal stature: a report of three cases. ( 16430527 )
2006
30
Solitary median maxillary central incisor (SMMCI) syndrome. ( 16722608 )
2006
31
DiGeorge syndrome associated with solitary median maxillary central incisor. ( 16252847 )
2005
32
Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog. ( 15103725 )
2004
33
Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case report. ( 12868480 )
2003
34
Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability. ( 12567406 )
2003
35
Face, palate, and craniofacial morphology in patients with a solitary median maxillary central incisor. ( 11296511 )
2001
36
SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature. ( 11471164 )
2001
37
Solitary median maxillary central incisor, short stature, choanal atresia/midnasal stenosis (SMMCI) syndrome. ( 9431535 )
1997

Variations for Solitary Median Maxillary Central Incisor

UniProtKB/Swiss-Prot genetic disease variations for Solitary Median Maxillary Central Incisor:

76
# Symbol AA change Variation ID SNP ID
1 SHH p.Ile111Phe VAR_017883 rs104894049
2 SHH p.Val332Ala VAR_023810 rs104894052

ClinVar genetic disease variations for Solitary Median Maxillary Central Incisor:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 SHH NM_000193.3(SHH): c.1147G> A (p.Ala383Thr) single nucleotide variant Uncertain significance rs137853341 GRCh37 Chromosome 7, 155595836: 155595836
2 SHH NM_000193.3(SHH): c.1147G> A (p.Ala383Thr) single nucleotide variant Uncertain significance rs137853341 GRCh38 Chromosome 7, 155803142: 155803142
3 SHH NM_000193.3(SHH): c.331A> T (p.Ile111Phe) single nucleotide variant Pathogenic rs104894049 GRCh37 Chromosome 7, 155599221: 155599221
4 SHH NM_000193.3(SHH): c.331A> T (p.Ile111Phe) single nucleotide variant Pathogenic rs104894049 GRCh38 Chromosome 7, 155806527: 155806527
5 SHH NM_000193.3(SHH): c.995T> C (p.Val332Ala) single nucleotide variant Pathogenic rs104894052 GRCh37 Chromosome 7, 155595988: 155595988
6 SHH NM_000193.3(SHH): c.995T> C (p.Val332Ala) single nucleotide variant Pathogenic rs104894052 GRCh38 Chromosome 7, 155803294: 155803294
7 SHH NM_000193.2(SHH): c.383G> A (p.Trp128Ter) single nucleotide variant Pathogenic rs104894053 GRCh37 Chromosome 7, 155599169: 155599169
8 SHH NM_000193.2(SHH): c.383G> A (p.Trp128Ter) single nucleotide variant Pathogenic rs104894053 GRCh38 Chromosome 7, 155806475: 155806475
9 SIX3 NM_005413.3(SIX3): c.109G> T (p.Gly37Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199823175 GRCh37 Chromosome 2, 45169352: 45169352
10 SIX3 NM_005413.3(SIX3): c.109G> T (p.Gly37Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199823175 GRCh38 Chromosome 2, 44942213: 44942213
11 SHH NM_000193.3(SHH): c.629G> A (p.Gly210Asp) single nucleotide variant Uncertain significance rs1554493882 GRCh37 Chromosome 7, 155596354: 155596354
12 SHH NM_000193.3(SHH): c.629G> A (p.Gly210Asp) single nucleotide variant Uncertain significance rs1554493882 GRCh38 Chromosome 7, 155803660: 155803660

Expression for Solitary Median Maxillary Central Incisor

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

Pathways for Solitary Median Maxillary Central Incisor

Pathways related to Solitary Median Maxillary Central Incisor according to KEGG:

38
# Name Kegg Source Accession
1 Hedgehog signaling pathway hsa04340

GO Terms for Solitary Median Maxillary Central Incisor

Sources for Solitary Median Maxillary Central Incisor

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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