MCID: MN1003
MIFTS: 26

Mn1 C-Terminal Truncation Syndrome

Categories: Ear diseases, Neuronal diseases

Aliases & Classifications for Mn1 C-Terminal Truncation Syndrome

MalaCards integrated aliases for Mn1 C-Terminal Truncation Syndrome:

Name: Mn1 C-Terminal Truncation Syndrome 25 43
Craniofacial Defects, Dysmorphic Ears, Structural Brain Abnormalities, Expressive Language Delay, and Impaired Intellectual Development 43
Mn1 C-Terminal Truncation Syndrome 6
Mctt Syndrome 43
Cebalid 43

Classifications:



Summaries for Mn1 C-Terminal Truncation Syndrome

MedlinePlus Genetics : 43 MN1 C-terminal truncation (MCTT) syndrome is a condition characterized by intellectual disability, developmental delay, distinctive facial features, and brain abnormalities.Most people with MCTT syndrome have mild to moderate intellectual disability. Many affected individuals are nonverbal, but some have speech limited to one or two words or communicate using sign language. Most children with this condition have delayed development of motor skills, such as crawling or walking, but are able to walk by age 2 or 3. However, they often need help with fine-motor skills, such as getting dressed or using a fork when eating.Individuals with MCTT syndrome often have distinctive facial features that include a sunken appearance of the middle of the face (midface hypoplasia ); a high arch in the roof of the mouth (high-arched palate ); outside corners of the eyes that point downward (downslanting palpebral fissures); widely spaced eyes (hypertelorism ); shallow and bulging eyes (exophthalmos); a short, upturned nose; and small, low-set ears. Some affected individuals have dental abnormalities, such as cone-shaped (conical ), jagged, or crowded teeth. Rarely, people with MCTT syndrome have premature fusion of certain skull bones (craniosynostosis). People with MCTT syndrome often have characteristic brain abnormalities. The surface of the brain normally has many ridges or folds, called gyri. A common brain abnormality in people with MCTT syndrome is called perisylvian polymicrogyria, in which an area of the brain called the perisylvian region develops too many gyri, and the folds are irregular and unusually small. Individuals with MCTT syndrome can also have a malformation of the part of the brain that coordinates movement (the cerebellum ). This malformation, called atypical rhombencephalosynapsis, is characterized by tissue loss in the central part of the cerebellum (known as the vermis) and fusion of the two sides of the cerebellum. These brain abnormalities likely contribute to the movement problems and intellectual disability that are common in MCTT syndrome. Less common features of MCTT syndrome include hearing loss, seizures, abnormal curvature of the spine, and heart abnormalities.

MalaCards based summary : Mn1 C-Terminal Truncation Syndrome, also known as craniofacial defects, dysmorphic ears, structural brain abnormalities, expressive language delay, and impaired intellectual development, is related to alacrima, achalasia, and mental retardation syndrome and polymicrogyria with or without vascular-type ehlers-danlos syndrome. An important gene associated with Mn1 C-Terminal Truncation Syndrome is MN1 (MN1 Proto-Oncogene, Transcriptional Regulator), and among its related pathways/superpathways are Pathways in cancer and Androgen receptor signaling pathway. Affiliated tissues include brain, cerebellum and myeloid, and related phenotypes are mortality/aging and liver/biliary system

GeneReviews: NBK560443

Related Diseases for Mn1 C-Terminal Truncation Syndrome

Diseases related to Mn1 C-Terminal Truncation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.4
2 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.4
3 polymicrogyria 10.4
4 rhombencephalosynapsis 10.4
5 hypertelorism 10.2
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
7 cebalid syndrome 10.2
8 craniosynostosis 10.2
9 myeloid leukemia 10.2
10 tanycytic ependymoma 10.1 NF2 MN1
11 myxopapillary ependymoma 10.1 NF2 MN1
12 mucinous stomach adenocarcinoma 10.0 PTEN NF2
13 anaplastic ependymoma 10.0 PTEN NF2
14 peritoneum cancer 9.9 PTEN NF2
15 benign ependymoma 9.9 PTEN NF2
16 central nervous system benign neoplasm 9.9 PTEN NF2
17 neurofibroma 9.9 PTEN NF2
18 peripheral nerve schwannoma 9.9 SMARCE1 NF2
19 angiomatous meningioma 9.9 SMARCE1 NF2
20 skull base cancer 9.9 SMARCE1 NF2
21 skull base meningioma 9.9 SMARCE1 NF2
22 transitional meningioma 9.9 SMARCE1 NF2
23 meningothelial meningioma 9.9 SMARCE1 NF2
24 spinal canal and spinal cord meningioma 9.9 SMARCE1 NF2
25 spinal meningioma 9.8 SMARCE1 NF2
26 secretory meningioma 9.8 SMARCE1 NF2
27 basal ganglia calcification 9.8 PTEN PDGFB
28 clear cell meningioma 9.8 SMARCE1 NF2
29 spinal cancer 9.8 SMARCE1 NF2
30 infratentorial cancer 9.8 SUFU PTEN
31 benign meningioma 9.8 SMARCE1 NF2
32 chordoma 9.8 PTEN MN1
33 rhabdoid cancer 9.8 SMARCE1 NF2
34 atypical teratoid rhabdoid tumor 9.7 SMARCE1 NF2
35 peripheral nervous system neoplasm 9.7 PTEN NF2
36 basal cell nevus syndrome 9.7 SUFU PTEN NF2
37 li-fraumeni syndrome 9.7 SUFU PTEN NF2
38 neurilemmomatosis 9.6 SUFU SMARCE1 NF2
39 rhabdomyosarcoma 9.5 SUFU PTEN PDGFB
40 meningioma, radiation-induced 9.3 SUFU SMARCE1 PDGFB NF2
41 medulloblastoma 9.3 SUFU PTEN PDGFB
42 meningioma, familial 8.8 SUFU SMARCE1 PTEN PDGFB NF2 MN1

Graphical network of the top 20 diseases related to Mn1 C-Terminal Truncation Syndrome:



Diseases related to Mn1 C-Terminal Truncation Syndrome

Symptoms & Phenotypes for Mn1 C-Terminal Truncation Syndrome

MGI Mouse Phenotypes related to Mn1 C-Terminal Truncation Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.73 MN1 NF2 PDGFB PTEN SMARCE1 SUFU
2 liver/biliary system MP:0005370 9.62 NF2 PDGFB PTEN SUFU
3 neoplasm MP:0002006 9.46 MN1 NF2 PTEN SUFU
4 pigmentation MP:0001186 9.13 PDGFB PTEN SUFU
5 respiratory system MP:0005388 9.02 MN1 NF2 PDGFB PTEN SUFU

Drugs & Therapeutics for Mn1 C-Terminal Truncation Syndrome

Search Clinical Trials , NIH Clinical Center for Mn1 C-Terminal Truncation Syndrome

Genetic Tests for Mn1 C-Terminal Truncation Syndrome

Anatomical Context for Mn1 C-Terminal Truncation Syndrome

MalaCards organs/tissues related to Mn1 C-Terminal Truncation Syndrome:

40
Brain, Cerebellum, Myeloid

Publications for Mn1 C-Terminal Truncation Syndrome

Articles related to Mn1 C-Terminal Truncation Syndrome:

# Title Authors PMID Year
1
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. 25 61
31834374 2020
2
Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities. 25
31839203 2020
3
Myeloid neoplasms with t(12;22)(p13;q12)/MN1-EVT6: a systematic review of 12 cases. 25
29273914 2018
4
The ten-year evolutionary trajectory of a highly recurrent paediatric high grade neuroepithelial tumour with MN1:BEND2 fusion. 25
29348602 2018
5
Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders. 25
28330790 2017
6
Prevalence and architecture of de novo mutations in developmental disorders. 25
28135719 2017
7
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
8
MN1 C-Terminal Truncation Syndrome 61
32790267 2020

Variations for Mn1 C-Terminal Truncation Syndrome

ClinVar genetic disease variations for Mn1 C-Terminal Truncation Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MN1 NM_002430.3(MN1):c.3730_3731insAAGAC (p.Thr1244fs) Insertion Likely pathogenic 979061 22:28192801-28192802 22:27796813-27796814
2 MN1 NM_002430.3(MN1):c.3839del (p.Cys1280fs) Deletion Likely pathogenic 816905 rs1601319594 22:28147027-28147027 22:27751039-27751039
3 MN1 NM_002430.3(MN1):c.3849_3850delinsA (p.His1284fs) Indel Likely pathogenic 979062 22:28147016-28147017 22:27751028-27751029
4 MN1 NM_002430.3(MN1):c.3893_3894dup (p.Pro1299fs) Duplication Likely pathogenic 979063 22:28146971-28146972 22:27750983-27750984
5 MN1 NM_002430.3(MN1):c.3745G>T (p.Glu1249Ter) SNV Likely pathogenic 812558 rs761317200 22:28192787-28192787 22:27796799-27796799
6 MN1 NM_002430.3(MN1):c.3778G>T (p.Glu1260Ter) SNV Likely pathogenic 978211 22:28192754-28192754 22:27796766-27796766
7 MN1 NM_002430.3(MN1):c.3870_3879dup (p.Ala1294Ter) Duplication Likely pathogenic 812561 rs1601319538 22:28146986-28146987 22:27750998-27750999
8 MN1 NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter) SNV Likely pathogenic 809340 rs1601319501 22:28146963-28146963 22:27750975-27750975
9 MN1 NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter) SNV Likely pathogenic 72912 rs147334255 22:28146983-28146983 22:27750995-27750995
10 MN1 NM_002430.3(MN1):c.3817C>T (p.Gln1273Ter) SNV Likely pathogenic 812559 rs1601319615 22:28147049-28147049 22:27751061-27751061

Expression for Mn1 C-Terminal Truncation Syndrome

Search GEO for disease gene expression data for Mn1 C-Terminal Truncation Syndrome.

Pathways for Mn1 C-Terminal Truncation Syndrome

Pathways related to Mn1 C-Terminal Truncation Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.16 SUFU PTEN PDGFB
2 11.28 SMARCE1 PTEN
3 10.98 SMARCE1 PTEN
4 10.84 PTEN PDGFB NF2
5 10.69 PTEN PDGFB

GO Terms for Mn1 C-Terminal Truncation Syndrome

Biological processes related to Mn1 C-Terminal Truncation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of protein stability GO:0031647 8.96 PTEN NF2
2 platelet-derived growth factor receptor signaling pathway GO:0048008 8.62 PTEN PDGFB

Molecular functions related to Mn1 C-Terminal Truncation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet-derived growth factor receptor binding GO:0005161 8.62 PTEN PDGFB

Sources for Mn1 C-Terminal Truncation Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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