MCID: TMP011
MIFTS: 32

Temple-Baraitser Syndrome

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

Aliases & Classifications for Temple-Baraitser Syndrome

MalaCards integrated aliases for Temple-Baraitser Syndrome:

Name: Temple-Baraitser Syndrome 53 49 55 71 28 69
Tmbts 53 49 55 71
Severe Intellectual Disability-Aplasia/hypoplasia of Thumb and Hallux Syndrome 49 55
Mental Retardation, Severe, and Absent Nails of Hallux and Pollex 53 71
Severe Mental Retardation and Absent Nails of Hallux and Pollex 71
Tbs 71

Characteristics:

Orphanet epidemiological data:

55
temple-baraitser syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
most mutations occur de novo


HPO:

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


Classifications:



External Ids:

OMIM 53 611816
Orphanet 55 ORPHA420561
UMLS via Orphanet 70 C2678486
ICD10 via Orphanet 33 Q87.2
MedGen 39 C2678486
UMLS 69 C2678486

Summaries for Temple-Baraitser Syndrome

NIH Rare Diseases : 49 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. Last updated: 9/30/2016

MalaCards based summary : Temple-Baraitser Syndrome, also known as tmbts, is related to mycobacterium tuberculosis 1 and tuberculous meningitis, and has symptoms including seizures, hypertelorism and global developmental delay. An important gene associated with Temple-Baraitser Syndrome is KCNH1 (Potassium Voltage-Gated Channel Subfamily H Member 1). Affiliated tissues include skin.

OMIM : 53 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 : 71 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 92)
# Related Disease Score Top Affiliating Genes
1 mycobacterium tuberculosis 1 12.2
2 tuberculous meningitis 11.7
3 multidrug-resistant tuberculosis 11.6
4 extrapulmonary tuberculosis 11.4
5 pulmonary tuberculosis 11.4
6 autosomal dominant deafness-onychodystrophy syndrome 11.3
7 tracheobronchomalacia 11.2
8 tuberculous peritonitis 11.1
9 townes-brocks syndrome 11.1
10 duane-radial ray syndrome 10.9
11 epilepsy 10.3
12 zimmermann-laband syndrome 1 10.1
13 zimmermann-laband syndrome 10.1
14 hepatitis 10.1
15 meningitis 10.0
16 pleural tuberculosis 10.0
17 viral hepatitis 10.0
18 infertility 9.9
19 miliary tuberculosis 9.9
20 pleurisy 9.9
21 choroiditis 9.9
22 lymphadenitis 9.9
23 rheumatoid arthritis 9.8
24 arthritis 9.8
25 orchitis 9.8
26 epididymo-orchitis 9.8
27 mycobacterium kansasii 9.8
28 leprosy 3 9.7
29 bronchiolitis obliterans 9.7
30 drug-induced hepatitis 9.7
31 silicosis 9.7
32 abdominal tuberculosis 9.7
33 primary hyperparathyroidism 9.7
34 inflammatory spondylopathy 9.7
35 uveitis 9.7
36 intestinal tuberculosis 9.7
37 hyperparathyroidism 9.7
38 gaucher's disease 9.7
39 bronchiolitis 9.7
40 syphilis 9.7
41 pustulosis of palm and sole 9.7
42 pneumonia 9.7
43 spondylitis 9.7
44 neuropathy 9.7
45 psoriasis 9.7
46 multifocal choroiditis 9.7
47 mycobacterium gordonae 9.7
48 mycobacterium marinum 9.7
49 alcohol dependence 9.6
50 spondyloarthropathy 1 9.6

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



Diseases related to Temple-Baraitser Syndrome

Symptoms & Phenotypes for Temple-Baraitser Syndrome

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
hypotonia
mental retardation, severe
delayed psychomotor development

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

Head And Neck Eyes:
hypertelorism
epicanthal folds
poor visual contact

Head And Neck Face:
long philtrum
myopathic facies
flat forehead

Skeletal Hands:
broad thumbs
adducted 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

Human phenotypes related to Temple-Baraitser Syndrome:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 hypertelorism 31 HP:0000316
3 global developmental delay 31 HP:0001263
4 depressed nasal bridge 31 HP:0005280
5 broad thumb 31 HP:0011304
6 intellectual disability, severe 31 HP:0010864
7 long philtrum 31 HP:0000343
8 thick nasal alae 31 HP:0009928
9 epicanthus 31 HP:0000286
10 intellectual disability, progressive 31 HP:0006887
11 wide mouth 31 HP:0000154
12 downturned corners of mouth 31 HP:0002714
13 adducted thumb 31 HP:0001181
14 short distal phalanx of finger 31 HP:0009882
15 wide nose 31 HP:0000445
16 myopathic facies 31 HP:0002058
17 generalized hypotonia 31 HP:0001290
18 flat forehead 31 HP:0004425
19 broad hallux 31 HP:0010055
20 pseudoepiphysis of the thumb 31 HP:0009693
21 hypoplastic thumbnail 31 HP:0012553
22 absent nail of hallux 31 HP:0012555

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 28 KCNH1

Anatomical Context for Temple-Baraitser Syndrome

MalaCards organs/tissues related to Temple-Baraitser Syndrome:

38
Skin

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:

71
# 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.1546C> T (p.Leu516Phe) single nucleotide variant Pathogenic rs727502820 GRCh37 Chromosome 1, 210977425: 210977425
3 KCNH1 NM_172362.2(KCNH1): c.1508A> G (p.Gln503Arg) single nucleotide variant Pathogenic rs727502821 GRCh37 Chromosome 1, 210977463: 210977463
4 KCNH1 NM_172362.2(KCNH1): c.651G> C (p.Lys217Asn) single nucleotide variant Pathogenic rs727502822 GRCh37 Chromosome 1, 211192506: 211192506

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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