TBHS
MCID: HYP682
MIFTS: 40

Hypertelorism, Teebi Type (TBHS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Hypertelorism, Teebi Type

MalaCards integrated aliases for Hypertelorism, Teebi Type:

Name: Hypertelorism, Teebi Type 57 20 72 29 6
Brachycephalofrontonasal Dysplasia 57 20 58 72 70
Teebi Hypertelorism Syndrome 20 58 72
Tbhs 57 72
Craniofrontonasal Dysplasia, Teebi Type 20
Specc1l-Related Hypertelorism Syndrome 58
Teebi Syndrome 70

Characteristics:

Orphanet epidemiological data:

58
specc1l-related hypertelorism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
a mother and son and another boy have been described with specc1l mutations


HPO:

31
hypertelorism, teebi type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Hypertelorism, Teebi Type

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1519 Definition Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes (see these terms).

MalaCards based summary : Hypertelorism, Teebi Type, also known as brachycephalofrontonasal dysplasia, is related to opitz-gbbb syndrome and hypertelorism. An important gene associated with Hypertelorism, Teebi Type is SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like). The drugs Budesonide and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney and uterus, and related phenotypes are hypertelorism and thick eyebrow

OMIM® : 57 Teebi hypertelorism syndrome (TBHS) is an autosomal dominant condition characterized by hypertelorism with upslanting palpebral fissures, prominent forehead, broad and depressed nasal bridge with short nose, thick eyebrows, and widow's peak. Additional features include small broad hands with mild interdigital webbing and shawl scrotum. Development is typically normal, although some patients with developmental delays have been reported (summary by Bhoj et al., 2015). (145420) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Hypertelorism, Teebi type: An autosomal dominant syndrome characterized by an abnormally increased distance between ocular orbits, and facial features that can resemble craniofrontonasal dysplasia such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin. Affected individuals have limb, urogenital, umbilical and cardiac defects.

Related Diseases for Hypertelorism, Teebi Type

Graphical network of the top 20 diseases related to Hypertelorism, Teebi Type:



Diseases related to Hypertelorism, Teebi Type

Symptoms & Phenotypes for Hypertelorism, Teebi Type

Human phenotypes related to Hypertelorism, Teebi Type:

58 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 thick eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0000574
3 highly arched eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002553
4 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
5 prominent nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000426
6 thin vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0000233
7 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
8 abnormality of the helix 58 31 frequent (33%) Frequent (79-30%) HP:0011039
9 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
10 umbilical hernia 58 31 frequent (33%) Frequent (79-30%) HP:0001537
11 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
12 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
13 everted lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000232
14 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
15 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
16 short toe 58 31 frequent (33%) Frequent (79-30%) HP:0001831
17 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
18 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
19 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
20 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
21 round face 58 31 frequent (33%) Frequent (79-30%) HP:0000311
22 preauricular pit 58 31 frequent (33%) Frequent (79-30%) HP:0004467
23 shawl scrotum 58 31 frequent (33%) Frequent (79-30%) HP:0000049
24 widow's peak 58 31 frequent (33%) Frequent (79-30%) HP:0000349
25 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
26 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
27 ectopic kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000086
28 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
29 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
30 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
31 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
32 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
33 proptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000520
34 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
35 advanced eruption of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0006288
36 omphalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0001539
37 oral cleft 58 31 occasional (7.5%) Occasional (29-5%) HP:0000202
38 female pseudohermaphroditism 58 31 occasional (7.5%) Occasional (29-5%) HP:0010458
39 dimple chin 31 occasional (7.5%) HP:0010751
40 frontal bossing 31 HP:0002007
41 depressed nasal bridge 31 HP:0005280
42 short stature 31 HP:0004322
43 anxiety 31 HP:0000739
44 dental crowding 31 HP:0000678
45 upslanted palpebral fissure 31 HP:0000582
46 chin dimple 58 Occasional (29-5%)
47 craniosynostosis 31 HP:0001363
48 small hand 31 HP:0200055
49 broad palm 31 HP:0001169
50 autistic behavior 31 HP:0000729

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis
hypertelorism
upslanting palpebral fissures
arched eyebrows

Growth Height:
short stature

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Skeletal Skull:
craniosynostosis

Genitourinary External Genitalia Male:
shawl scrotum

Head And Neck Ears:
preauricular pits

Head And Neck Mouth:
thin vermillion of upper lip

Skeletal Spine:
hypersegmented lumbar vertebrae

Neurologic Behavioral Psychiatric Manifestations:
anxiety (in 1 patient)
panic attacks (in 1 patient)

Head And Neck Nose:
depressed nasal bridge
short nose

Head And Neck Face:
prominent forehead
long philtrum

Head And Neck Teeth:
dental crowding
natal teeth
enamel defects

Abdomen External Features:
omphalocele
protruding umbilicus

Genitourinary Internal Genitalia Female:
bicornuate uterus

Skeletal Hands:
small hands

Respiratory Lung:
pulmonary hypoplasia secondary to omphalocele

Neurologic Central Nervous System:
pervasive developmental disorder (in 1 patient)

Prenatal Manifestations Placenta And Umbilical Cord:
two-vessel cord

Clinical features from OMIM®:

145420 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hypertelorism, Teebi Type

Drugs for Hypertelorism, Teebi Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Budesonide Approved Phase 3 51333-22-3 63006 5281004
2 Neurotransmitter Agents Phase 3
3 Adrenergic beta-Agonists Phase 3
4 Adrenergic Agonists Phase 3
5 Respiratory System Agents Phase 3
6 Formoterol Fumarate Phase 3
7 Hormones Phase 3
8 Hormone Antagonists Phase 3
9 Adrenergic Agents Phase 3
10 Anti-Asthmatic Agents Phase 3
11 glucocorticoids Phase 3
12 Bronchodilator Agents Phase 3
13 Anti-Inflammatory Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A 6-Month Double-Blind, Double-Dummy, Randomized, Parallel Group, Multicenter Efficacy & Safety Study of SYMBICORT® pMDI 2 x 160/4.5 µg & 80/4.5 µg Bid Compared to Formoterol TBH, Budesonide pMDI (& the Combination) & Placebo in COPD Patients Completed NCT00206154 Phase 3 Budesonide/formoterol pMDI;Budesonide pMDI;Formoterol Turbuhaler
2 ACAR Brain Health Intervention Study: A Preliminary Investigation of Subjective Memory and Well-Being Recruiting NCT04208880

Search NIH Clinical Center for Hypertelorism, Teebi Type

Genetic Tests for Hypertelorism, Teebi Type

Genetic tests related to Hypertelorism, Teebi Type:

# Genetic test Affiliating Genes
1 Hypertelorism, Teebi Type 29 SPECC1L

Anatomical Context for Hypertelorism, Teebi Type

MalaCards organs/tissues related to Hypertelorism, Teebi Type:

40
Kidney, Uterus

Publications for Hypertelorism, Teebi Type

Articles related to Hypertelorism, Teebi Type:

# Title Authors PMID Year
1
Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome. 57 6
26111080 2015
2
A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes. 6 57
17506099 2007
3
Teebi hypertelorism syndrome (brachycephalofrontonasal dysplasia) in a U.S. family. 57 61
1867268 1991
4
Atrioventricular block and wiry hair in Teebi hypertelorism syndrome. 57
16906548 2006
5
Teebi hypertelorism syndrome. 57
14564158 2003
6
Teebi hypertelorism syndrome: report of a family with previously unrecognized findings. 57
12439902 2002
7
Craniofrontonasal syndrome and diaphragmatic hernia. 57
12116215 2002
8
Teebi hypertelorism syndrome: further observations. 57
8849013 1995
9
New autosomal dominant syndrome resembling craniofrontonasal dysplasia. 57
3425628 1987
10
Delineation of the male phenotype in carniofrontonasal syndrome. 57
3631134 1987

Variations for Hypertelorism, Teebi Type

ClinVar genetic disease variations for Hypertelorism, Teebi Type:

6 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPECC1L-ADORA2A , SPECC1L NM_015330.5(SPECC1L):c.1198_1203del (p.Ile400_His401del) Deletion Pathogenic 585312 rs1569420537 GRCh37: 22:24718146-24718151
GRCh38: 22:24322178-24322183
2 SPECC1L-ADORA2A , SPECC1L NM_015330.5(SPECC1L):c.1260G>C (p.Glu420Asp) SNV Pathogenic 585313 rs1569420596 GRCh37: 22:24718208-24718208
GRCh38: 22:24322240-24322240
3 SPECC1L-ADORA2A , SPECC1L NM_015330.5(SPECC1L):c.1189A>C (p.Thr397Pro) SNV Pathogenic 183671 rs786201030 GRCh37: 22:24718137-24718137
GRCh38: 22:24322169-24322169
4 SPECC1L-ADORA2A , SPECC1L NM_015330.5(SPECC1L):c.3293G>A (p.Arg1098Gln) SNV Pathogenic 445948 rs1555874726 GRCh37: 22:24810530-24810530
GRCh38: 22:24414562-24414562
5 SPECC1L-ADORA2A , SPECC1L NM_015330.5(SPECC1L):c.1258G>A (p.Glu420Lys) SNV Pathogenic 561338 rs1569420590 GRCh37: 22:24718206-24718206
GRCh38: 22:24322238-24322238
6 SPECC1L-ADORA2A , SPECC1L NM_015330.5(SPECC1L):c.1300G>A (p.Glu434Lys) SNV Likely pathogenic 561339 rs1569420632 GRCh37: 22:24718248-24718248
GRCh38: 22:24322280-24322280
7 SPECC1L-ADORA2A , SPECC1L NM_015330.5(SPECC1L):c.3026A>C (p.Tyr1009Ser) SNV Likely pathogenic 561341 rs1569438496 GRCh37: 22:24765227-24765227
GRCh38: 22:24369259-24369259
8 SPECC1L-ADORA2A , SPECC1L NM_015330.6(SPECC1L):c.2999A>T (p.Asp1000Val) SNV Likely pathogenic 827792 rs1601294872 GRCh37: 22:24765200-24765200
GRCh38: 22:24369232-24369232
9 SPECC1L-ADORA2A , SPECC1L NM_015330.5(SPECC1L):c.1382G>A (p.Arg461Gln) SNV Likely pathogenic 561340 rs1169891186 GRCh37: 22:24718330-24718330
GRCh38: 22:24322362-24322362
10 SPECC1L-ADORA2A , SPECC1L NM_015330.5(SPECC1L):c.1249A>C (p.Thr417Pro) SNV Likely pathogenic 599382 rs111653895 GRCh37: 22:24718197-24718197
GRCh38: 22:24322229-24322229
11 SPECC1L-ADORA2A , SPECC1L NM_015330.5(SPECC1L):c.1246G>A (p.Ala416Thr) SNV Likely pathogenic 561337 rs1569420568 GRCh37: 22:24718194-24718194
GRCh38: 22:24322226-24322226
12 SPECC1L-ADORA2A , SPECC1L NM_015330.6(SPECC1L):c.836A>G (p.Glu279Gly) SNV Uncertain significance 931986 GRCh37: 22:24717784-24717784
GRCh38: 22:24321816-24321816
13 SPECC1L-ADORA2A , SPECC1L NM_015330.5(SPECC1L):c.1460G>A (p.Arg487His) SNV Likely benign 773371 rs55723436 GRCh37: 22:24718408-24718408
GRCh38: 22:24322440-24322440
14 SPECC1L-ADORA2A , SPECC1L NM_015330.5(SPECC1L):c.293C>T (p.Ser98Phe) SNV Likely benign 713241 rs35783914 GRCh37: 22:24709420-24709420
GRCh38: 22:24313452-24313452
15 SPECC1L-ADORA2A , SPECC1L NM_015330.5(SPECC1L):c.902= (p.Gly301=) Variation Benign 803646 GRCh37: 22:24717850-24717850
GRCh38: 22:24321882-24321882
16 SPECC1L-ADORA2A , SPECC1L NM_015330.5(SPECC1L):c.2851= (p.Met951=) SNV Benign 803647 rs204718 GRCh37: 22:24761467-24761467
GRCh38: 22:24365499-24365499

Expression for Hypertelorism, Teebi Type

Search GEO for disease gene expression data for Hypertelorism, Teebi Type.

Pathways for Hypertelorism, Teebi Type

GO Terms for Hypertelorism, Teebi Type

Cellular components related to Hypertelorism, Teebi Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.26 SPECC1L-ADORA2A SPECC1L
2 cell junction GO:0030054 9.16 SPECC1L-ADORA2A SPECC1L
3 spindle GO:0005819 8.96 SPECC1L-ADORA2A SPECC1L
4 gap junction GO:0005921 8.62 SPECC1L-ADORA2A SPECC1L

Biological processes related to Hypertelorism, Teebi Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 8.96 SPECC1L-ADORA2A SPECC1L
2 cell division GO:0051301 8.62 SPECC1L-ADORA2A SPECC1L

Sources for Hypertelorism, Teebi Type

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....