MCID: SLT005
MIFTS: 34

Solitary Median Maxillary Central Incisor

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Solitary Median Maxillary Central Incisor

MalaCards integrated aliases for Solitary Median Maxillary Central Incisor:

Name: Solitary Median Maxillary Central Incisor 57 53 75 73
Single Upper Central Incisor 57 53 59 40
Smmci 57 53 59 75
Solitary Median Maxillary Central Incisor Syndrome 53 59 37
Single Median Maxillary Central Incisor 57 13
Single Central Maxillary Incisor 57 53
Fused Incisors 57 53
Incisors Fused 76 53
Incisors, Fused 57

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
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:

32
solitary median maxillary central incisor:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Solitary Median Maxillary Central Incisor

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2286Disease definitionSolitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline, defects of development resulting from unknown factor(s) operating in utero from about the 35th-38th day after conception.EpidemiologyIt is estimated to occur in 1:50,000 live births.Clinical descriptionThe SMMCI tooth differs from the normal central incisor, in that the crown form is symmetric; it develops and erupts precisely in the midline of the maxillary dental arch in both primary and permanent dentitions. Congenital nasal malformation (choanal atresia, midnasal stenosis or congenital pyriform aperture stenosis) is positively associated with SMMCI. The presence of SMMCI tooth may be predictive of associated anomalies, and the serious anomaly holoprosencephaly. Common congenital anomalies associated with SMMCI are: severe to mild intellectual disability, congenital heart disease, cleft lip and/or palate and less frequently, microcephaly, hypopituitarism, hypotelorism, convergent strabismus, oesophageal and duodenal atresia, cervical hemivertebrae, cervical dermoid, hypothyroidism, scoliosis, absent kidney, micropenis and ambiguous genitalia. Short stature is present in half the children.EtiologyThe aetiology is uncertain. A missense mutation in the SHH gene (I111F) at 7q36 may be associated with SMMCI.Diagnostic methodsDiagnosis should be made by 8 months of age, but can be made at birth and even prenatally at 18-22 weeks from the routine mid-trimester ultrasound scan.Management and treatmentManagement depends upon the individual anomalies present. Choanal stenosis requires emergency surgical treatment and short stature may require growth hormone therapy. SMMCI tooth itself is mainly an aesthetic problem, which is ideally managed by combined orthodontic, prosthodontic and oral surgical treatment; alternatively, it can be left untreated.Visit the Orphanet disease page for more resources.

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), and among its related pathways/superpathways is Hedgehog signaling pathway. Affiliated tissues include heart, kidney and pituitary, and related phenotypes are agenesis of corpus callosum and hypothyroidism

UniProtKB/Swiss-Prot : 75 Solitary median maxillary central incisor: Rare dental anomaly characterized by the congenital absence of one maxillary central incisor.

Wikipedia : 76 The phenomenon of tooth fusion arises through union of two normally separated tooth germs, and depending... 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 17)
# Related Disease Score Top Affiliating Genes
1 incisors, fused mandibular 12.2
2 thumb deformity, alopecia, pigmentation anomaly 11.7
3 choanal atresia, posterior 10.4
4 holoprosencephaly 10.3
5 growth hormone deficiency 10.3
6 cleft palate, isolated 10.1
7 cayler cardiofacial syndrome 10.1
8 hemifacial microsomia 10.1
9 digeorge syndrome 10.1
10 duane retraction syndrome 10.1
11 limb reduction defect 10.1
12 isolated duane retraction syndrome 10.1
13 townes-brocks syndrome 10.1
14 1q duplications 10.1
15 trisomy 1q 10.1
16 pituitary hypoplasia 9.9
17 ectodermal dysplasia 9.9

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Solitary Median Maxillary Central Incisor:

59 32 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
2 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
3 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
4 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
6 short nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003196
7 microcephaly 59 32 occasional (7.5%) Frequent (79-30%) HP:0000252
8 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
9 short stature 59 32 very rare (1%) Frequent (79-30%) HP:0004322
10 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
11 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
12 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
13 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
14 tetralogy of fallot 59 32 occasional (7.5%) Occasional (29-5%) HP:0001636
15 choanal atresia 59 32 very rare (1%) Very frequent (99-80%) HP:0000453
16 asthma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002099
17 hypoplasia of penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008736
18 holoprosencephaly 59 32 frequent (33%) Occasional (29-5%) HP:0001360
19 narrow nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000446
20 hypotelorism 59 32 very rare (1%) Frequent (79-30%) HP:0000601
21 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
22 ambiguous genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000062
23 tented upper lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0010804
24 premature birth 59 32 frequent (33%) Frequent (79-30%) HP:0001622
25 panhypopituitarism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000871
26 single median maxillary incisor 59 32 very rare (1%) Very frequent (99-80%) HP:0006315
27 cyclopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0009914
28 maternal diabetes 59 32 occasional (7.5%) Occasional (29-5%) HP:0009800
29 renal agenesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000104
30 duodenal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002247
31 hemangioma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001028
32 midnasal stenosis 59 32 very rare (1%) Very frequent (99-80%) HP:0010644
33 intellectual disability, mild 32 very rare (1%) HP:0001256
34 malformation of the heart and great vessels 59 Occasional (29-5%)
35 specific learning disability 32 very rare (1%) HP:0001328
36 microphthalmia 32 occasional (7.5%) HP:0000568
37 cleft upper lip 32 very rare (1%) HP:0000204
38 oral cleft 59 Occasional (29-5%)
39 anophthalmia 32 occasional (7.5%) HP:0000528
40 anosmia 32 occasional (7.5%) HP:0000458
41 abnormality of chromosome segregation 32 very rare (1%) HP:0002916
42 coloboma 32 occasional (7.5%) HP:0000589
43 emg: myopathic abnormalities 59 Occasional (29-5%)
44 growth hormone deficiency 32 very rare (1%) HP:0000824
45 torus palatinus 32 HP:0100789
46 prominent median palatal raphe 32 very rare (1%) HP:0002708
47 abnormality of the nasopharynx 32 very rare (1%) HP:0001739
48 emg 32 occasional (7.5%) HP:0003458

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:

41
Heart, Kidney, Pituitary

Publications for Solitary Median Maxillary Central Incisor

Articles related to Solitary Median Maxillary Central Incisor:

(show all 27)
# Title Authors Year
1
Solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report. ( 29333838 )
2018
2
Solitary Median Maxillary Central Incisor Versus Agenesis of the Maxillary Central Incisor. ( 27098718 )
2016
3
Congenital nasal pyriform aperture stenosis in association with solitary median maxillary central incisor: unique radiologic features. ( 27594945 )
2016
4
Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome. ( 26080100 )
2015
5
Solitary Median Maxillary Central Incisor. ( 26138879 )
2015
6
Solitary median maxillary central incisor: A case report of a rare dental anomaly. ( 26015739 )
2015
7
Dental Items of Interest: The Case of Delphic Sibyl by Michelangelo: Solitary Median Maxillary Central Incisor or Mesiodens. ( 26930847 )
2015
8
Clinical course and implications of congenital nasal pyriform stenosis and solitary median maxillary central incisor in a newborn: a case report. ( 24950703 )
2014
9
Premolar transplantation in a patient with solitary median maxillary central incisor syndrome. ( 25432260 )
2014
10
Solitary median maxillary central incisor syndrome associated with unique cleft palate: a rare case report. ( 24598504 )
2014
11
Solitary median maxillary central incisor syndrome (SMMCI) with congenital nasal puriform aperture stenosis: literature review and case report with comprehensive dental treatment and 14A years follow-up. ( 23775592 )
2013
12
Solitary median maxillary central incisor, a clinical predictor of hypoplastic anterior pituitary, ectopic neurohypophysis and growth hormone deficiency. ( 23729612 )
2013
13
Solitary median maxillary central incisor: a report of 2 cases. ( 22583889 )
2012
14
Concomitant solitary median maxillary central incisor and fused right mandibular incisor in primary dentition. ( 23230364 )
2012
15
The primary Maxillary Central Incisor in the Solitary Median Maxillary Central Incisor syndrome. ( 22455533 )
2012
16
Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome. ( 22138217 )
2012
17
Solitary median maxillary central incisor in association with hemifacial microsomia: A rare case report and review of literature. ( 22346174 )
2011
18
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
19
A case of solitary median maxillary central incisor (SMMCI) syndrome with bilateral pyriform aperture stenosis and choanal atresia. ( 20626079 )
2010
20
A case of solitary median maxillary central incisor (SMMCI) syndrome with bilateral pyriform aperture stenosis and choanal atresia. ( 20627328 )
2010
21
Palatal expansion in a patient with solitary median maxillary central incisor syndrome. ( 20889056 )
2010
22
Solitary median maxillary central incisor syndrome and holoprosencephaly: a case report. ( 21070710 )
2010
23
DiGeorge syndrome associated with solitary median maxillary central incisor. ( 16252847 )
2005
24
Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog. ( 15103725 )
2004
25
Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case report. ( 12868480 )
2003
26
SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature. ( 11471164 )
2001
27
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:

75
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 SHH NM_000193.3(SHH): c.331A> T (p.Ile111Phe) single nucleotide variant Pathogenic rs104894049 GRCh37 Chromosome 7, 155599221: 155599221
2 SHH NM_000193.3(SHH): c.331A> T (p.Ile111Phe) single nucleotide variant Pathogenic rs104894049 GRCh38 Chromosome 7, 155806527: 155806527
3 SHH NM_000193.3(SHH): c.995T> C (p.Val332Ala) single nucleotide variant Pathogenic rs104894052 GRCh37 Chromosome 7, 155595988: 155595988
4 SHH NM_000193.3(SHH): c.995T> C (p.Val332Ala) single nucleotide variant Pathogenic rs104894052 GRCh38 Chromosome 7, 155803294: 155803294
5 SHH NM_000193.3(SHH): c.383G> A (p.Trp128Ter) single nucleotide variant Pathogenic rs104894053 GRCh37 Chromosome 7, 155599169: 155599169
6 SHH NM_000193.3(SHH): c.383G> A (p.Trp128Ter) single nucleotide variant Pathogenic rs104894053 GRCh38 Chromosome 7, 155806475: 155806475

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:

37
# 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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