MCID: TNR001
MIFTS: 20

Tenorio Syndrome

Categories: Genetic diseases

Aliases & Classifications for Tenorio Syndrome

MalaCards integrated aliases for Tenorio Syndrome:

Name: Tenorio Syndrome 57 75 37 29 6 40 73
Overgrowth, Macrocephaly, and Intellectual Disability Syndrome 57 75
Tnors 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
tenorio syndrome:
Inheritance autosomal dominant inheritance


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)

MalaCards based summary : Tenorio Syndrome, is also known as overgrowth, macrocephaly, and intellectual disability syndrome, 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 hydrocephalus

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Tenorio Syndrome:

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

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 29 RNF125

Anatomical Context for Tenorio Syndrome

Publications for Tenorio Syndrome

Variations for Tenorio Syndrome

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

75
# 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 Pathogenic rs373764886 GRCh38 Chromosome 18, 32045716: 32045716
4 RNF125 NM_017831.3(RNF125): c.488C> T (p.Ser163Leu) single nucleotide variant Pathogenic rs373764886 GRCh37 Chromosome 18, 29625679: 29625679
5 RNF125 NM_017831.3(RNF125): c.520C> T (p.Arg174Cys) single nucleotide variant Pathogenic rs370242930 GRCh38 Chromosome 18, 32065917: 32065917
6 RNF125 NM_017831.3(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 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
Content
Loading form....