TNORS
MCID: TNR001
MIFTS: 26

Tenorio Syndrome (TNORS)

Categories: Genetic diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Tenorio Syndrome

MalaCards integrated aliases for Tenorio Syndrome:

Name: Tenorio Syndrome 57 73 28 5 71
Overgrowth, Macrocephaly, and Intellectual Disability Syndrome 57 73
Tnors 57 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
variable presentation
six patients reported (last curated march 2015)


Classifications:



Summaries for Tenorio Syndrome

OMIM®: 57 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) (Updated 24-Oct-2022)

MalaCards based summary: Tenorio Syndrome, also known as overgrowth, macrocephaly, and intellectual disability syndrome, is related to alacrima, achalasia, and mental retardation syndrome and hypotonia, and has symptoms including apnea, seizures and syncope. An important gene associated with Tenorio Syndrome is RNF125 (Ring Finger Protein 125). Related phenotypes are macrocephaly and intellectual disability

UniProtKB/Swiss-Prot: 73 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

Diseases related to Tenorio Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.0
2 hypotonia 10.0
3 overgrowth syndrome 10.0

Symptoms & Phenotypes for Tenorio Syndrome

Human phenotypes related to Tenorio Syndrome:

30 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 30 HP:0000256
2 intellectual disability 30 HP:0001249
3 scoliosis 30 HP:0002650
4 gait disturbance 30 HP:0001288
5 hydrocephalus 30 HP:0000238
6 osteopenia 30 HP:0000938
7 macroglossia 30 HP:0000158
8 global developmental delay 30 HP:0001263
9 mandibular prognathia 30 HP:0000303
10 delayed speech and language development 30 HP:0000750
11 anteverted nares 30 HP:0000463
12 thick eyebrow 30 HP:0000574
13 gastroesophageal reflux 30 HP:0002020
14 hypoglycemia 30 HP:0001943
15 anxiety 30 HP:0000739
16 ventriculomegaly 30 HP:0002119
17 large forehead 30 HP:0002003
18 cerebral cortical atrophy 30 HP:0002120
19 apnea 30 HP:0002104
20 telecanthus 30 HP:0000506
21 cerebral palsy 30 HP:0100021
22 wide nose 30 HP:0000445
23 delayed cranial suture closure 30 HP:0000270
24 hemihypertrophy 30 HP:0001528
25 keratoconjunctivitis sicca 30 HP:0001097
26 syncope 30 HP:0001279
27 pneumonia 30 HP:0002090
28 generalized hypotonia 30 HP:0001290
29 clumsiness 30 HP:0002312
30 raynaud phenomenon 30 HP:0030880
31 hypertrichosis 30 HP:0000998
32 hypoinsulinemia 30 HP:0040216
33 stomatitis 30 HP:0010280
34 cavum septum pellucidum 30 HP:0002389
35 seizure 30 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Head:
macrocephaly
large forehead
head circumference at birth >97th percentile

Skeletal Spine:
scoliosis

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

Endocrine Features:
hypoglycemia
hypoinsulinemia

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
syncope
clumsiness
more
Skeletal:
osteopenia
slight hemihypertrophy

Abdomen Gastrointestinal:
gastroesophageal reflux

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 (Updated 24-Oct-2022)

UMLS symptoms related to Tenorio Syndrome:


apnea; seizures; syncope; clumsiness

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 28 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. 57 5
25196541 2014
2
Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features. 62
34196401 2021

Variations for Tenorio Syndrome

ClinVar genetic disease variations for Tenorio Syndrome:

5 (show all 31)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RNF125 NM_017831.4(RNF125):c.336G>A (p.Met112Ile) SNV Pathogenic
183420 rs786201014 GRCh37: 18:29622159-29622159
GRCh38: 18:32042196-32042196
2 RNF125 NM_017831.4(RNF125):c.520C>T (p.Arg174Cys) SNV Pathogenic
183422 rs370242930 GRCh37: 18:29645880-29645880
GRCh38: 18:32065917-32065917
3 RNF125 NM_017831.4(RNF125):c.454A>G (p.Ser152Gly) SNV Uncertain Significance
939378 rs2039263017 GRCh37: 18:29625645-29625645
GRCh38: 18:32045682-32045682
4 RNF125 NM_017831.4(RNF125):c.679A>T (p.Asn227Tyr) SNV Uncertain Significance
1184433 GRCh37: 18:29648327-29648327
GRCh38: 18:32068364-32068364
5 RNF125 NM_017831.4(RNF125):c.472A>G (p.Ile158Val) SNV Uncertain Significance
848755 rs2039263250 GRCh37: 18:29625663-29625663
GRCh38: 18:32045700-32045700
6 RNF125 NM_017831.4(RNF125):c.368T>C (p.Ile123Thr) SNV Uncertain Significance
1016415 rs146291499 GRCh37: 18:29622191-29622191
GRCh38: 18:32042228-32042228
7 RNF125 NM_017831.4(RNF125):c.175T>C (p.Ser59Pro) SNV Uncertain Significance
1421722 GRCh37: 18:29617089-29617089
GRCh38: 18:32037126-32037126
8 RNF125 NC_000018.9:g.(?_29598827)_(29617252_?)del DEL Uncertain Significance
1412089 GRCh37: 18:29598827-29617252
GRCh38:
9 RNF125 NM_017831.4(RNF125):c.521G>A (p.Arg174His) SNV Uncertain Significance
1523002 GRCh37: 18:29645881-29645881
GRCh38: 18:32065918-32065918
10 RNF125 NM_017831.4(RNF125):c.40C>T (p.Pro14Ser) SNV Uncertain Significance
1679769 GRCh37: 18:29598866-29598866
GRCh38: 18:32018903-32018903
11 RNF125 NC_000018.9:g.(?_29598807)_(29625715_?)dup DUP Uncertain Significance
1047553 GRCh37: 18:29598807-29625715
GRCh38:
12 RNF125 NC_000018.9:g.(?_29648241)_(29648367_?)dup DUP Uncertain Significance
642635 GRCh37: 18:29648241-29648367
GRCh38: 18:32068278-32068404
13 RNF125 NM_017831.4(RNF125):c.488C>T (p.Ser163Leu) SNV Uncertain Significance
183421 rs373764886 GRCh37: 18:29625679-29625679
GRCh38: 18:32045716-32045716
14 RNF125 NM_017831.4(RNF125):c.47C>G (p.Ser16Cys) SNV Uncertain Significance
542140 rs766520562 GRCh37: 18:29598873-29598873
GRCh38: 18:32018910-32018910
15 RNF125 NM_017831.4(RNF125):c.81C>A (p.Asp27Glu) SNV Uncertain Significance
542141 rs776932441 GRCh37: 18:29598907-29598907
GRCh38: 18:32018944-32018944
16 RNF125 NM_017831.4(RNF125):c.92C>T (p.Pro31Leu) SNV Uncertain Significance
377122 rs751589349 GRCh37: 18:29598918-29598918
GRCh38: 18:32018955-32018955
17 RNF125 NM_017831.4(RNF125):c.379G>A (p.Gly127Arg) SNV Uncertain Significance
643501 rs1598815885 GRCh37: 18:29622202-29622202
GRCh38: 18:32042239-32042239
18 RNF125 NM_017831.4(RNF125):c.504+18A>G SNV Likely Benign
1609517 GRCh37: 18:29625713-29625713
GRCh38: 18:32045750-32045750
19 RNF125 NM_017831.4(RNF125):c.300C>T (p.Cys100=) SNV Benign
771247 rs367997412 GRCh37: 18:29617214-29617214
GRCh38: 18:32037251-32037251
20 RNF125 NM_017831.4(RNF125):c.494G>A (p.Arg165Gln) SNV Benign
1167211 GRCh37: 18:29625685-29625685
GRCh38: 18:32045722-32045722
21 RNF125 NM_017831.4(RNF125):c.21C>T (p.Thr7=) SNV Benign
1168280 GRCh37: 18:29598847-29598847
GRCh38: 18:32018884-32018884
22 RNF125 NM_017831.4(RNF125):c.318+23T>G SNV Benign
1327959 GRCh37: 18:29617255-29617255
GRCh38: 18:32037292-32037292
23 RNF125 NM_017831.4(RNF125):c.690C>T (p.Asn230=) SNV Benign
707273 rs141596575 GRCh37: 18:29648338-29648338
GRCh38: 18:32068375-32068375
24 RNF125 NM_017831.4(RNF125):c.28_30del (p.Gly10del) DEL Benign
707497 rs753146462 GRCh37: 18:29598852-29598854
GRCh38: 18:32018889-32018891
25 RNF125 NM_017831.4(RNF125):c.445T>G (p.Tyr149Asp) SNV Benign
707675 rs145377749 GRCh37: 18:29625636-29625636
GRCh38: 18:32045673-32045673
26 RNF125 NM_017831.4(RNF125):c.90G>A (p.Leu30=) SNV Benign
726819 rs201846866 GRCh37: 18:29598916-29598916
GRCh38: 18:32018953-32018953
27 RNF125 NM_017831.4(RNF125):c.324C>T (p.Cys108=) SNV Benign
772069 rs147178607 GRCh37: 18:29622147-29622147
GRCh38: 18:32042184-32042184
28 RNF125 NM_017831.4(RNF125):c.489G>A (p.Ser163=) SNV Benign
772145 rs79205763 GRCh37: 18:29625680-29625680
GRCh38: 18:32045717-32045717
29 RNF125 NM_017831.4(RNF125):c.132A>G (p.Leu44=) SNV Benign
772500 rs150801287 GRCh37: 18:29598958-29598958
GRCh38: 18:32018995-32018995
30 RNF125 NM_017831.4(RNF125):c.570A>T (p.Arg190Ser) SNV Benign
475385 rs150663325 GRCh37: 18:29645930-29645930
GRCh38: 18:32065967-32065967
31 RNF125 NM_017831.4(RNF125):c.387A>G (p.Leu129=) SNV Benign
475384 rs144268137 GRCh37: 18:29622210-29622210
GRCh38: 18:32042247-32042247

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....