TMBTS
MCID: TMP011
MIFTS: 34

Temple-Baraitser Syndrome (TMBTS)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Temple-Baraitser Syndrome

MalaCards integrated aliases for Temple-Baraitser Syndrome:

Name: Temple-Baraitser Syndrome 57 20 58 73 29 6 39 17 71
Tmbts 57 20 58 73
Severe Intellectual Disability-Aplasia/hypoplasia of Thumb and Hallux Syndrome 20 58
Mental Retardation, Severe, and Absent Nails of Hallux and Pollex 57 73
Severe Mental Retardation and Absent Nails of Hallux and Pollex 73
Tbs 73

Characteristics:

Orphanet epidemiological data:

58
temple-baraitser syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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

Miscellaneous:
onset in infancy
most mutations occur de novo


HPO:

31
temple-baraitser syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Temple-Baraitser Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 420561DefinitionTemple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.Visit the Orphanet disease page for more resources.

MalaCards based summary : Temple-Baraitser Syndrome, also known as tmbts, is related to townes-brocks syndrome and autosomal dominant deafness-onychodystrophy syndrome, and has symptoms including seizures An important gene associated with Temple-Baraitser Syndrome is KCNH1 (Potassium Voltage-Gated Channel Subfamily H Member 1). Affiliated tissues include brain, and related phenotypes are eeg abnormality and constipation

OMIM® : 57 Temple-Baraitser syndrome is a rare developmental disorder characterized by severe mental retardation and anomalies of the first ray of the upper and lower limbs with absence/hypoplasia of the nails. Most patients also have seizures; various dysmorphic facial features have been reported (summary by Jacquinet et al., 2010). (611816) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Temple-Baraitser syndrome: A developmental disorder characterized by intellectual disability, epilepsy, hypoplasia or aplasia of the thumb and great toe nails, and broadening and/or elongation of the thumbs and halluces, which have a tubular aspect. Some patients show facial dysmorphism.

Related Diseases for Temple-Baraitser Syndrome

Diseases related to Temple-Baraitser Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 townes-brocks syndrome 11.3
2 autosomal dominant deafness-onychodystrophy syndrome 11.2
3 osteoporosis 10.4
4 bone mineral density quantitative trait locus 8 10.4
5 bone mineral density quantitative trait locus 15 10.4
6 epilepsy 10.3
7 hyperparathyroidism 10.2
8 glioblastoma 10.2
9 primary hyperparathyroidism 10.2
10 glioma 10.2
11 glial tumor 10.2
12 alacrima, achalasia, and mental retardation syndrome 10.1
13 seizure disorder 10.1
14 zimmermann-laband syndrome 10.1
15 spondyloarthropathy 1 10.0
16 type 2 diabetes mellitus 10.0
17 brittle bone disorder 10.0
18 glucocorticoid-induced osteoporosis 10.0
19 bone disease 10.0
20 inflammatory spondylopathy 10.0
21 spondylitis 10.0
22 aortic aneurysm, familial abdominal, 1 9.8
23 rheumatoid arthritis 9.8
24 scleroderma, familial progressive 9.8
25 down syndrome 9.8
26 hemochromatosis, type 1 9.8
27 cervical cancer 9.8
28 body mass index quantitative trait locus 1 9.8
29 pachyonychia congenita 3 9.8
30 neurodevelopmental, jaw, eye, and digital syndrome 9.8
31 atrioventricular block 9.8
32 first-degree atrioventricular block 9.8
33 bone resorption disease 9.8
34 spondyloarthropathy 9.8
35 low compliance bladder 9.8
36 brain cancer 9.8
37 facial paralysis 9.8
38 cholera 9.8
39 personality disorder 9.8
40 central nervous system disease 9.8
41 aortic aneurysm 9.8
42 chronic kidney disease 9.8
43 osteoarthritis 9.8
44 arthritis 9.8
45 lung disease 9.8
46 nervous system disease 9.8
47 neurofibromatosis 9.8
48 neurofibroma 9.8
49 48,xyyy 9.8
50 thalassemia 9.8

Graphical network of the top 20 diseases related to Temple-Baraitser Syndrome:



Diseases related to Temple-Baraitser Syndrome

Symptoms & Phenotypes for Temple-Baraitser Syndrome

Human phenotypes related to Temple-Baraitser Syndrome:

58 31 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
2 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
3 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
4 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
5 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
6 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
7 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
8 thick vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0012471
9 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
10 thick eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0000574
11 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
12 broad thumb 58 31 frequent (33%) Frequent (79-30%) HP:0011304
13 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
14 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
15 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
16 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
17 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
18 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
19 severe global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011344
20 wide nose 58 31 frequent (33%) Frequent (79-30%) HP:0000445
21 long eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0000527
22 long hallux 58 31 frequent (33%) Frequent (79-30%) HP:0001847
23 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
24 myopathic facies 58 31 frequent (33%) Frequent (79-30%) HP:0002058
25 bilateral ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0001488
26 seizure 31 frequent (33%) HP:0001250
27 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
28 gingival overgrowth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000212
29 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
30 full cheeks 58 31 occasional (7.5%) Occasional (29-5%) HP:0000293
31 thick nasal alae 58 31 occasional (7.5%) Occasional (29-5%) HP:0009928
32 everted lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000232
33 open mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000194
34 low anterior hairline 58 31 occasional (7.5%) Occasional (29-5%) HP:0000294
35 malar flattening 58 31 occasional (7.5%) Occasional (29-5%) HP:0000272
36 high anterior hairline 58 31 occasional (7.5%) Occasional (29-5%) HP:0009890
37 short distal phalanx of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009882
38 everted upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0010803
39 tented upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0010804
40 hypoplastic thumbnail 58 31 occasional (7.5%) Occasional (29-5%) HP:0012553
41 absent nail of hallux 58 31 occasional (7.5%) Occasional (29-5%) HP:0012555
42 delayed phalangeal epiphyseal ossification 58 31 occasional (7.5%) Occasional (29-5%) HP:0006016
43 triangular shaped distal phalanx of the thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0009648
44 short phalanx of the thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0009660
45 seizures 58 Frequent (79-30%)
46 global developmental delay 31 HP:0001263
47 intellectual disability, progressive 31 HP:0006887
48 downturned corners of mouth 31 HP:0002714
49 adducted thumb 31 HP:0001181
50 hypoplastic fingernail 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
hypotonia
mental retardation, severe
delayed psychomotor development

Head And Neck Eyes:
hypertelorism
epicanthal folds
poor visual contact

Head And Neck Face:
long philtrum
myopathic facies
flat forehead

Skeletal Feet:
broad halluces
hypoplasia of terminal phalanges
abnormal secondary ossification center of distal phalanges of thumbs
long great toes
central translucency of distal phalanges of halluces

Head And Neck Nose:
depressed nasal bridge
thick nasal alae
broad nose

Head And Neck Mouth:
wide mouth
downturned corners of the mouth
thick vermilion border of the lips

Skeletal Hands:
pseudoepiphysis of the thumb
adducted thumbs
broad thumbs
proximal implantation of thumb
hypoplasia of terminal phalanges
more
Skin Nails Hair Nails:
hypoplastic/aplastic thumb nails
hypoplastic/aplastic nails of halluces

Clinical features from OMIM®:

611816 (Updated 05-Mar-2021)

UMLS symptoms related to Temple-Baraitser Syndrome:


seizures

Drugs & Therapeutics for Temple-Baraitser Syndrome

Search Clinical Trials , NIH Clinical Center for Temple-Baraitser Syndrome

Genetic Tests for Temple-Baraitser Syndrome

Genetic tests related to Temple-Baraitser Syndrome:

# Genetic test Affiliating Genes
1 Temple-Baraitser Syndrome 29 KCNH1

Anatomical Context for Temple-Baraitser Syndrome

MalaCards organs/tissues related to Temple-Baraitser Syndrome:

40
Brain

Publications for Temple-Baraitser Syndrome

Articles related to Temple-Baraitser Syndrome:

(show all 14)
# Title Authors PMID Year
1
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. 6 57 61
25420144 2015
2
Report of a patient with Temple-Baraitser syndrome. 6 57 61
24357613 2014
3
Temple-Baraitser syndrome: a rare and possibly unrecognized condition. 61 57 6
20683999 2010
4
A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser syndrome). 61 6 57
18203178 2008
5
Severe mental retardation and absent nails of hallux and pollex. 57
1785628 1991
6
Temple-Baraitser syndrome with KCNH1 Asn510Thr: a new case report. 61
32956079 2021
7
"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes. 61
32560786 2020
8
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity? 61
27282200 2016
9
Epilepsy in KCNH1-related syndromes. 61
27267311 2016
10
De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures. 61
26818738 2016
11
'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes. 61
26264464 2015
12
Two cases of Temple-Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes. 61
25629734 2015
13
Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. 61
25711872 2015
14
Determination of polycyclic aromatic sulfur heterocycles in diesel particulate matter and diesel fuel by gas chromatography with atomic emission detection. 61
16574137 2006

Variations for Temple-Baraitser Syndrome

ClinVar genetic disease variations for Temple-Baraitser Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNH1 NM_172362.3(KCNH1):c.1546C>T (p.Leu516Phe) SNV Pathogenic 162521 rs727502820 1:210977425-210977425 1:210804083-210804083
2 KCNH1 NM_172362.3(KCNH1):c.1508A>G (p.Gln503Arg) SNV Pathogenic 162522 rs727502821 1:210977463-210977463 1:210804121-210804121
3 KCNH1 NM_172362.3(KCNH1):c.651G>C (p.Lys217Asn) SNV Pathogenic 162523 rs727502822 1:211192506-211192506 1:211019164-211019164
4 KCNH1 NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val) SNV Pathogenic 162520 rs727502819 1:210977491-210977491 1:210804149-210804149
5 KCNH1 NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val) SNV Pathogenic 162520 rs727502819 1:210977491-210977491 1:210804149-210804149
6 KCNH1 NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln) SNV Likely pathogenic 279981 rs886041300 1:211093374-211093374 1:210920032-210920032
7 KCNH1 NM_172362.3(KCNH1):c.1034G>C (p.Gly345Ala) SNV Uncertain significance 587447 rs1558526097 1:211093410-211093410 1:210920068-210920068
8 KCNH1 NM_172362.3(KCNH1):c.2265G>C (p.Glu755Asp) SNV Likely benign 689343 rs776649794 1:210857328-210857328 1:210683986-210683986

UniProtKB/Swiss-Prot genetic disease variations for Temple-Baraitser Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 KCNH1 p.Lys217Asn VAR_072612 rs727502822
2 KCNH1 p.Leu489Phe VAR_072613 rs155334594
3 KCNH1 p.Ile494Val VAR_072614 rs727502819
4 KCNH1 p.Gln503Arg VAR_072615 rs727502821

Expression for Temple-Baraitser Syndrome

Search GEO for disease gene expression data for Temple-Baraitser Syndrome.

Pathways for Temple-Baraitser Syndrome

GO Terms for Temple-Baraitser Syndrome

Sources for Temple-Baraitser Syndrome

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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