TNORS
MCID: TNR001
MIFTS: 20

Tenorio Syndrome (TNORS)

Categories: Genetic diseases

Aliases & Classifications for Tenorio Syndrome

MalaCards integrated aliases for Tenorio Syndrome:

Name: Tenorio Syndrome 58 76 38 30 6 41 74
Overgrowth, Macrocephaly, and Intellectual Disability Syndrome 58 76
Tnors 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
tenorio syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Tenorio Syndrome

OMIM : 58 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)

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 macrocephaly and hydrocephalus

UniProtKB/Swiss-Prot : 76 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:

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly
large forehead
head circumference at birth >97th percentile

Neurologic Central Nervous System:
intellectual disability
seizures
clumsiness
cerebral palsy
syncope
more
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

Skeletal:
osteopenia
slight hemihypertrophy

Skeletal Spine:
scoliosis

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

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 30 RNF125

Anatomical Context for Tenorio Syndrome

Publications for Tenorio Syndrome

Variations for Tenorio Syndrome

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

76
# 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

ClinVar genetic disease variations for Tenorio Syndrome:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 RNF125 NM_017831.3(RNF125): c.336G> A (p.Met112Ile) single nucleotide variant Pathogenic rs786201014 GRCh38 Chromosome 18, 32042196: 32042196
2 RNF125 NM_017831.3(RNF125): c.336G> A (p.Met112Ile) single nucleotide variant Pathogenic rs786201014 GRCh37 Chromosome 18, 29622159: 29622159
3 RNF125 NM_017831.3(RNF125): c.488C> T (p.Ser163Leu) single nucleotide variant Uncertain significance rs373764886 GRCh38 Chromosome 18, 32045716: 32045716
4 RNF125 NM_017831.3(RNF125): c.488C> T (p.Ser163Leu) single nucleotide variant Uncertain significance rs373764886 GRCh37 Chromosome 18, 29625679: 29625679
5 RNF125 NM_017831.4(RNF125): c.520C> T (p.Arg174Cys) single nucleotide variant Pathogenic rs370242930 GRCh38 Chromosome 18, 32065917: 32065917
6 RNF125 NM_017831.4(RNF125): c.520C> T (p.Arg174Cys) single nucleotide variant Pathogenic rs370242930 GRCh37 Chromosome 18, 29645880: 29645880
7 RNF125 NM_017831.3(RNF125): c.387A> G (p.Leu129=) single nucleotide variant Benign rs144268137 GRCh37 Chromosome 18, 29622210: 29622210
8 RNF125 NM_017831.3(RNF125): c.387A> G (p.Leu129=) single nucleotide variant Benign rs144268137 GRCh38 Chromosome 18, 32042247: 32042247
9 RNF125 NM_017831.3(RNF125): c.570A> T (p.Arg190Ser) single nucleotide variant Benign rs150663325 GRCh38 Chromosome 18, 32065967: 32065967
10 RNF125 NM_017831.3(RNF125): c.570A> T (p.Arg190Ser) single nucleotide variant Benign rs150663325 GRCh37 Chromosome 18, 29645930: 29645930
11 RNF125 NM_017831.3(RNF125): c.47C> G (p.Ser16Cys) single nucleotide variant Uncertain significance rs766520562 GRCh37 Chromosome 18, 29598873: 29598873
12 RNF125 NM_017831.3(RNF125): c.47C> G (p.Ser16Cys) single nucleotide variant Uncertain significance rs766520562 GRCh38 Chromosome 18, 32018910: 32018910
13 RNF125 NM_017831.3(RNF125): c.81C> A (p.Asp27Glu) single nucleotide variant Uncertain significance rs776932441 GRCh37 Chromosome 18, 29598907: 29598907
14 RNF125 NM_017831.3(RNF125): c.81C> A (p.Asp27Glu) single nucleotide variant Uncertain significance rs776932441 GRCh38 Chromosome 18, 32018944: 32018944

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
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
Content
Loading form....