TNORS
MCID: TNR001
MIFTS: 23

Tenorio Syndrome (TNORS)

Categories: Genetic diseases

Aliases & Classifications for Tenorio Syndrome

MalaCards integrated aliases for Tenorio Syndrome:

Name: Tenorio Syndrome 56 73 36 29 6 39 71
Overgrowth, Macrocephaly, and Intellectual Disability Syndrome 56 73
Tnors 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable presentation
six patients reported (last curated march 2015)


HPO:

31
tenorio syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Tenorio Syndrome

KEGG : 36 Tenorio syndrome is a overgrowth syndrome characterized by overgrowth, macrocephaly, intellectual disability, mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren's syndrome [DS:H01502]. Mutations in RNF125, encoding an E3 ubiquitin ligase, have been found from patients. It have been demonstrated that mutations in RNF125 result in a loss of function of RNF125 and dysregulation of the RIG-I-IPS1, PI3K-AKT, and interferon pathways.

MalaCards based summary : Tenorio Syndrome, is also known as overgrowth, macrocephaly, and intellectual disability syndrome, and has symptoms including seizures, apnea and clumsiness. An important gene associated with Tenorio Syndrome is RNF125 (Ring Finger Protein 125). Related phenotypes are macroglossia and intellectual disability

OMIM : 56 Tenorio syndrome is characterized by overgrowth, macrocephaly, and intellectual disability (ID). Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome (270150) (summary by Tenorio et al., 2014). (616260)

UniProtKB/Swiss-Prot : 73 Tenorio syndrome: A disease characterized by overgrowth, macrocephaly, and intellectual disability. Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome.

Related Diseases for Tenorio Syndrome

Symptoms & Phenotypes for Tenorio Syndrome

Human phenotypes related to Tenorio Syndrome:

31 (show all 35)
# Description HPO Frequency HPO Source Accession
1 macroglossia 31 HP:0000158
2 intellectual disability 31 HP:0001249
3 scoliosis 31 HP:0002650
4 macrocephaly 31 HP:0000256
5 mandibular prognathia 31 HP:0000303
6 delayed speech and language development 31 HP:0000750
7 hydrocephalus 31 HP:0000238
8 anteverted nares 31 HP:0000463
9 thick eyebrow 31 HP:0000574
10 gastroesophageal reflux 31 HP:0002020
11 gait disturbance 31 HP:0001288
12 hypoglycemia 31 HP:0001943
13 osteopenia 31 HP:0000938
14 anxiety 31 HP:0000739
15 cerebral cortical atrophy 31 HP:0002120
16 ventriculomegaly 31 HP:0002119
17 large forehead 31 HP:0002003
18 apnea 31 HP:0002104
19 telecanthus 31 HP:0000506
20 cerebral palsy 31 HP:0100021
21 wide nose 31 HP:0000445
22 delayed cranial suture closure 31 HP:0000270
23 hemihypertrophy 31 HP:0001528
24 keratoconjunctivitis sicca 31 HP:0001097
25 clumsiness 31 HP:0002312
26 syncope 31 HP:0001279
27 pneumonia 31 HP:0002090
28 generalized hypotonia 31 HP:0001290
29 raynaud phenomenon 31 HP:0030880
30 hypertrichosis 31 HP:0000998
31 stomatitis 31 HP:0010280
32 psychomotor retardation 31 HP:0025356
33 hypoinsulinemia 31 HP:0040216
34 cavum septum pellucidum 31 HP:0002389
35 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
macroglossia
large mandible
fleshy lips
recurrent stomatitis

Skeletal Spine:
scoliosis

Abdomen Gastrointestinal:
gastroesophageal reflux

Skeletal:
osteopenia
slight hemihypertrophy

Respiratory:
apnea
pneumonia

Head And Neck Nose:
wide nose
upturned nose

Skin Nails Hair Hair:
hypertrichosis
thick eyebrows

Skeletal Skull:
delayed closure of fontanels

Growth Weight:
birthweight >97th percentile

Skeletal Limbs:
hyperlaxity of small joints

Neurologic Central Nervous System:
intellectual disability
seizures
cerebral palsy
clumsiness
syncope
more
Head And Neck Head:
macrocephaly
large forehead
head circumference at birth >97th percentile

Endocrine Features:
hypoglycemia
hypoinsulinemia

Neurologic Behavioral Psychiatric Manifestations:
anxiety
alterations in mood

Head And Neck Eyes:
telecanthus
keratoconjunctivitis sicca
thick eyebrows
limbitis

Cardiovascular Vascular:
raynaud phenomenon

Head And Neck Teeth:
delayed dentition

Growth Height:
birth length >97th percentile

Head And Neck Ears:
serous otitis media

Immunology:
positive anti-nucleus antibodies
moderate-low complement c3

Clinical features from OMIM:

616260

UMLS symptoms related to Tenorio Syndrome:


seizures, apnea, clumsiness, syncope

Drugs & Therapeutics for Tenorio Syndrome

Search Clinical Trials , NIH Clinical Center for Tenorio Syndrome

Genetic Tests for Tenorio Syndrome

Genetic tests related to Tenorio Syndrome:

# Genetic test Affiliating Genes
1 Tenorio Syndrome 29 RNF125

Anatomical Context for Tenorio Syndrome

Publications for Tenorio Syndrome

Articles related to Tenorio Syndrome:

# Title Authors PMID Year
1
A new overgrowth syndrome is due to mutations in RNF125. 6 56
25196541 2014

Variations for Tenorio Syndrome

ClinVar genetic disease variations for Tenorio Syndrome:

6 (show all 18) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RNF125 NM_017831.4(RNF125):c.336G>A (p.Met112Ile)SNV Pathogenic 183420 rs786201014 18:29622159-29622159 18:32042196-32042196
2 RNF125 NM_017831.4(RNF125):c.520C>T (p.Arg174Cys)SNV Pathogenic 183422 rs370242930 18:29645880-29645880 18:32065917-32065917
3 RNF125 NM_017831.4(RNF125):c.92C>T (p.Pro31Leu)SNV Uncertain significance 377122 rs751589349 18:29598918-29598918 18:32018955-32018955
4 RNF125 NM_017831.4(RNF125):c.472A>G (p.Ile158Val)SNV Uncertain significance 848755 18:29625663-29625663 18:32045700-32045700
5 RNF125 NM_017831.4(RNF125):c.488C>T (p.Ser163Leu)SNV Uncertain significance 183421 rs373764886 18:29625679-29625679 18:32045716-32045716
6 RNF125 NM_017831.4(RNF125):c.47C>G (p.Ser16Cys)SNV Uncertain significance 542140 rs766520562 18:29598873-29598873 18:32018910-32018910
7 RNF125 NM_017831.4(RNF125):c.81C>A (p.Asp27Glu)SNV Uncertain significance 542141 rs776932441 18:29598907-29598907 18:32018944-32018944
8 RNF125 NM_017831.4(RNF125):c.379G>A (p.Gly127Arg)SNV Uncertain significance 643501 18:29622202-29622202 18:32042239-32042239
9 RNF125 NC_000018.9:g.(?_29648241)_(29648367_?)dupduplication Uncertain significance 642635 18:29648241-29648367 18:32068278-32068404
10 RNF125 NM_017831.4(RNF125):c.28_30del (p.Gly10del)deletion Benign 707497 18:29598852-29598854 18:32018889-32018891
11 RNF125 NM_017831.4(RNF125):c.445T>G (p.Tyr149Asp)SNV Benign 707675 18:29625636-29625636 18:32045673-32045673
12 RNF125 NM_017831.4(RNF125):c.690C>T (p.Asn230=)SNV Benign 707273 18:29648338-29648338 18:32068375-32068375
13 RNF125 NM_017831.4(RNF125):c.132A>G (p.Leu44=)SNV Benign 772500 18:29598958-29598958 18:32018995-32018995
14 RNF125 NM_017831.4(RNF125):c.324C>T (p.Cys108=)SNV Benign 772069 18:29622147-29622147 18:32042184-32042184
15 RNF125 NM_017831.4(RNF125):c.489G>A (p.Ser163=)SNV Benign 772145 18:29625680-29625680 18:32045717-32045717
16 RNF125 NM_017831.4(RNF125):c.90G>A (p.Leu30=)SNV Benign 726819 18:29598916-29598916 18:32018953-32018953
17 RNF125 NM_017831.4(RNF125):c.387A>G (p.Leu129=)SNV Benign 475384 rs144268137 18:29622210-29622210 18:32042247-32042247
18 RNF125 NM_017831.4(RNF125):c.570A>T (p.Arg190Ser)SNV Benign 475385 rs150663325 18:29645930-29645930 18:32065967-32065967

UniProtKB/Swiss-Prot genetic disease variations for Tenorio Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 RNF125 p.Met112Ile VAR_073353 rs786201014
2 RNF125 p.Ser163Leu VAR_073354 rs373764886
3 RNF125 p.Arg174Cys VAR_073355 rs370242930

Expression for Tenorio Syndrome

Search GEO for disease gene expression data for Tenorio Syndrome.

Pathways for Tenorio Syndrome

GO Terms for Tenorio Syndrome

Sources for Tenorio Syndrome

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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