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 58 54 60 76 30 6 41 17 74
Tmbts 58 54 60 76
Severe Intellectual Disability-Aplasia/hypoplasia of Thumb and Hallux Syndrome 54 60
Mental Retardation, Severe, and Absent Nails of Hallux and Pollex 58 76
Severe Mental Retardation and Absent Nails of Hallux and Pollex 76
Tbs 76

Characteristics:

Orphanet epidemiological data:

60
temple-baraitser syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
most mutations occur de novo


HPO:

33
temple-baraitser syndrome:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Temple-Baraitser Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 420561Disease definitionTemple-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 mycobacterium tuberculosis 1 and tuberculous meningitis, 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 skin, kidney and t cells, and related phenotypes are hypertelorism and seizures

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 189)
# Related Disease Score Top Affiliating Genes
1 mycobacterium tuberculosis 1 12.4
2 tuberculous meningitis 11.9
3 multidrug-resistant tuberculosis 11.8
4 townes-brocks syndrome 11.8
5 extrapulmonary tuberculosis 11.6
6 pulmonary tuberculosis 11.6
7 autosomal dominant deafness-onychodystrophy syndrome 11.5
8 miliary tuberculosis 11.4
9 tuberculous peritonitis 11.3
10 duane-radial ray syndrome 11.0
11 horns in sheep 10.7
12 epilepsy 10.4
13 meningitis 10.3
14 blood group, colton system 10.3
15 zimmermann-laband syndrome 1 10.3
16 zimmermann-laband syndrome 10.3
17 human immunodeficiency virus infectious disease 10.2
18 human immunodeficiency virus type 1 10.2
19 hepatitis 10.2
20 uveitis 10.2
21 rheumatoid arthritis 10.2
22 arthritis 10.2
23 viral hepatitis 10.2
24 pleural tuberculosis 10.1
25 lymphadenitis 10.1
26 cytokine deficiency 10.1
27 osteoporotic fracture 10.1
28 radin blood group antigen 10.1
29 spondylitis 10.1
30 leprosy 3 10.0
31 inflammatory bowel disease 10.0
32 osteomyelitis 10.0
33 infertility 10.0
34 pneumonia 10.0
35 neuropathy 10.0
36 psoriasis 10.0
37 hansen's disease 10.0
38 heparin-induced thrombocytopenia 10.0
39 sarcoidosis 1 10.0
40 crohn's disease 10.0
41 silicosis 10.0
42 pleurisy 10.0
43 choroiditis 10.0
44 alcohol dependence 9.9
45 osteoporosis 9.9
46 pelger-huet anomaly 9.9
47 pulmonary hemosiderosis 9.9
48 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.9
49 malaria 9.9
50 diabetes mellitus 9.9

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:

33 (show all 24)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 seizures 33 HP:0001250
3 muscular hypotonia 33 HP:0001252
4 global developmental delay 33 HP:0001263
5 depressed nasal bridge 33 HP:0005280
6 thick vermilion border 33 HP:0012471
7 broad thumb 33 HP:0011304
8 intellectual disability, severe 33 HP:0010864
9 long philtrum 33 HP:0000343
10 thick nasal alae 33 HP:0009928
11 epicanthus 33 HP:0000286
12 intellectual disability, progressive 33 HP:0006887
13 wide mouth 33 HP:0000154
14 downturned corners of mouth 33 HP:0002714
15 adducted thumb 33 HP:0001181
16 short distal phalanx of finger 33 HP:0009882
17 wide nose 33 HP:0000445
18 myopathic facies 33 HP:0002058
19 generalized hypotonia 33 HP:0001290
20 hypoplastic thumbnail 33 HP:0012553
21 flat forehead 33 HP:0004425
22 broad hallux 33 HP:0010055
23 pseudoepiphysis of the thumb 33 HP:0009693
24 absent nail of hallux 33 HP:0012555

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
epicanthal folds
poor visual contact

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 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

Neurologic Central Nervous System:
seizures
hypotonia
mental retardation, severe
delayed psychomotor development

Head And Neck Face:
long philtrum
myopathic facies
flat forehead

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

Clinical features from OMIM:

611816

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 30 KCNH1

Anatomical Context for Temple-Baraitser Syndrome

MalaCards organs/tissues related to Temple-Baraitser Syndrome:

42
Skin, Kidney, T Cells, Lymph Node, Tongue, Neutrophil

Publications for Temple-Baraitser Syndrome

Articles related to Temple-Baraitser Syndrome:

# Title Authors Year
1
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity? ( 27282200 )
2016
2
Two cases of Temple-Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes. ( 25629734 )
2015
3
Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. ( 25711872 )
2015
4
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. ( 25420144 )
2015
5
Report of a patient with Temple-Baraitser syndrome. ( 24357613 )
2014
6
Temple-Baraitser syndrome: a rare and possibly unrecognized condition. ( 20683999 )
2010
7
A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser syndrome). ( 18203178 )
2008

Variations for Temple-Baraitser Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 KCNH1 p.Lys217Asn VAR_072612 rs727502822
2 KCNH1 p.Leu489Phe VAR_072613
3 KCNH1 p.Ile494Val VAR_072614 rs727502819
4 KCNH1 p.Gln503Arg VAR_072615 rs727502821

ClinVar genetic disease variations for Temple-Baraitser Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNH1 NM_172362.2(KCNH1): c.1480A> G (p.Ile494Val) single nucleotide variant Pathogenic rs727502819 GRCh37 Chromosome 1, 210977491: 210977491
2 KCNH1 NM_172362.2(KCNH1): c.1480A> G (p.Ile494Val) single nucleotide variant Pathogenic rs727502819 GRCh38 Chromosome 1, 210804149: 210804149
3 KCNH1 NM_172362.2(KCNH1): c.1546C> T (p.Leu516Phe) single nucleotide variant Pathogenic rs727502820 GRCh37 Chromosome 1, 210977425: 210977425
4 KCNH1 NM_172362.2(KCNH1): c.1546C> T (p.Leu516Phe) single nucleotide variant Pathogenic rs727502820 GRCh38 Chromosome 1, 210804083: 210804083
5 KCNH1 NM_172362.2(KCNH1): c.1508A> G (p.Gln503Arg) single nucleotide variant Pathogenic rs727502821 GRCh37 Chromosome 1, 210977463: 210977463
6 KCNH1 NM_172362.2(KCNH1): c.1508A> G (p.Gln503Arg) single nucleotide variant Pathogenic rs727502821 GRCh38 Chromosome 1, 210804121: 210804121
7 KCNH1 NM_172362.2(KCNH1): c.651G> C (p.Lys217Asn) single nucleotide variant Pathogenic rs727502822 GRCh37 Chromosome 1, 211192506: 211192506
8 KCNH1 NM_172362.2(KCNH1): c.651G> C (p.Lys217Asn) single nucleotide variant Pathogenic rs727502822 GRCh38 Chromosome 1, 211019164: 211019164
9 KCNH1 NM_172362.2(KCNH1): c.1034G> C (p.Gly345Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 210920068: 210920068
10 KCNH1 NM_172362.2(KCNH1): c.1034G> C (p.Gly345Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 211093410: 211093410

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
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
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