TPBS
MCID: TMT002
MIFTS: 31

Temtamy Preaxial Brachydactyly Syndrome (TPBS)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Temtamy Preaxial Brachydactyly Syndrome

MalaCards integrated aliases for Temtamy Preaxial Brachydactyly Syndrome:

Name: Temtamy Preaxial Brachydactyly Syndrome 58 12 54 60 76 38 30 13 6 15 74
Preaxial Brachydactyly Syndrome, Temtamy Type 58 12 54
Tpbs 58 76
Mental Retardation Syndrome with Preaxial Brachydactyly, Hyperphalangism, Deafness and Orodental Anomalies 54
Preaxial Brachydactyly Syndrome Temtamy Type 76
Brachydactyly, Temtamy, Preaxial, Syndrome 41

Characteristics:

Orphanet epidemiological data:

60
temtamy preaxial brachydactyly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
temtamy preaxial brachydactyly syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050814
OMIM 58 605282
KEGG 38 H01497
MeSH 45 D000015
ICD10 via Orphanet 35 Q87.2
UMLS via Orphanet 75 C1854466
Orphanet 60 ORPHA363417
MedGen 43 C1854466
UMLS 74 C1854466

Summaries for Temtamy Preaxial Brachydactyly Syndrome

UniProtKB/Swiss-Prot : 76 Temtamy preaxial brachydactyly syndrome: A syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, talon cusps of upper central incisors, growth retardation, and bilateral symmetric digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism.

MalaCards based summary : Temtamy Preaxial Brachydactyly Syndrome, also known as preaxial brachydactyly syndrome, temtamy type, is related to catel-manzke syndrome and brachydactyly. An important gene associated with Temtamy Preaxial Brachydactyly Syndrome is CHSY1 (Chondroitin Sulfate Synthase 1), and among its related pathways/superpathways is Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate. Affiliated tissues include bone and eye, and related phenotypes are optic atrophy and cleft palate

Disease Ontology : 12 An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene.

Description from OMIM: 605282

Related Diseases for Temtamy Preaxial Brachydactyly Syndrome

Diseases related to Temtamy Preaxial Brachydactyly Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 catel-manzke syndrome 11.4
2 brachydactyly 10.6
3 trypanosomiasis 10.2

Symptoms & Phenotypes for Temtamy Preaxial Brachydactyly Syndrome

Human phenotypes related to Temtamy Preaxial Brachydactyly Syndrome:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 optic atrophy 33 occasional (7.5%) HP:0000648
2 cleft palate 33 occasional (7.5%) HP:0000175
3 radioulnar synostosis 33 occasional (7.5%) HP:0002974
4 blue sclerae 33 occasional (7.5%) HP:0000592
5 clinodactyly 33 HP:0030084
6 microdontia 33 HP:0000691
7 brachydactyly 33 HP:0001156
8 deep philtrum 33 HP:0002002
9 highly arched eyebrow 33 HP:0002553
10 synophrys 33 HP:0000664
11 short metacarpal 33 HP:0010049
12 tarsal synostosis 33 HP:0008368
13 syndactyly 33 HP:0001159
14 short metatarsal 33 HP:0010743
15 carpal synostosis 33 HP:0009702
16 bilateral sensorineural hearing impairment 33 HP:0008619
17 diastema 33 HP:0000699
18 hitchhiker thumb 33 HP:0001234
19 talon cusp 33 HP:0011087

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Teeth:
microdontia
talon cusps
midline diastema
narrow lower alveolar ridge
lobulated anterior palatine rugae (rare)

Skeletal Hands:
short metacarpals
carpal fusion
short, abducted thumbs
radioulnar synostosis (rare)
soft tissue syndactyly
more
Head And Neck Mouth:
prominent philtrum
cleft palate (rare)

Head And Neck Eyes:
synophrys
arched eyebrows
optic atrophy (rare)
blue sclerae (in some patients)
wide-eye appearance
more
Skeletal Feet:
short metatarsals
tarsal fusion
lateral deviation of the halluces

Head And Neck Ears:
bilateral sensorineural deafness

Clinical features from OMIM:

605282

MGI Mouse Phenotypes related to Temtamy Preaxial Brachydactyly Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.13 BMP4 CHSY1 TGDS
2 skeleton MP:0005390 8.8 BMP4 CHSY1 TGDS

Drugs & Therapeutics for Temtamy Preaxial Brachydactyly Syndrome

Search Clinical Trials , NIH Clinical Center for Temtamy Preaxial Brachydactyly Syndrome

Genetic Tests for Temtamy Preaxial Brachydactyly Syndrome

Genetic tests related to Temtamy Preaxial Brachydactyly Syndrome:

# Genetic test Affiliating Genes
1 Temtamy Preaxial Brachydactyly Syndrome 30 CHSY1

Anatomical Context for Temtamy Preaxial Brachydactyly Syndrome

MalaCards organs/tissues related to Temtamy Preaxial Brachydactyly Syndrome:

42
Bone, Eye

Publications for Temtamy Preaxial Brachydactyly Syndrome

Articles related to Temtamy Preaxial Brachydactyly Syndrome:

# Title Authors Year
1
A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family. ( 24269551 )
2014
2
Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. ( 21129728 )
2010

Variations for Temtamy Preaxial Brachydactyly Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Temtamy Preaxial Brachydactyly Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 CHSY1 p.Pro539Arg VAR_065822 rs387906985

ClinVar genetic disease variations for Temtamy Preaxial Brachydactyly Syndrome:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHSY1 CHSY1, 30-BP DEL, NT55 deletion Pathogenic
2 CHSY1 NM_014918.4(CHSY1): c.14delG (p.Gly5Alafs) deletion Pathogenic GRCh38 Chromosome 15, 101251443: 101251443
3 CHSY1 NM_014918.4(CHSY1): c.14delG (p.Gly5Alafs) deletion Pathogenic GRCh37 Chromosome 15, 101791648: 101791648
4 CHSY1 NM_014918.4(CHSY1): c.205C> T (p.Gln69Ter) single nucleotide variant Pathogenic rs387906984 GRCh37 Chromosome 15, 101791457: 101791457
5 CHSY1 NM_014918.4(CHSY1): c.205C> T (p.Gln69Ter) single nucleotide variant Pathogenic rs387906984 GRCh38 Chromosome 15, 101251252: 101251252
6 CHSY1 NM_014918.4(CHSY1): c.321-3C> G single nucleotide variant Pathogenic GRCh37 Chromosome 15, 101775785: 101775785
7 CHSY1 NM_014918.4(CHSY1): c.321-3C> G single nucleotide variant Pathogenic GRCh38 Chromosome 15, 101235580: 101235580
8 CHSY1 NM_014918.4(CHSY1): c.1616C> G (p.Pro539Arg) single nucleotide variant Pathogenic rs387906985 GRCh37 Chromosome 15, 101718386: 101718386
9 CHSY1 NM_014918.4(CHSY1): c.1616C> G (p.Pro539Arg) single nucleotide variant Pathogenic rs387906985 GRCh38 Chromosome 15, 101178181: 101178181
10 CHSY1 CHSY1, 1-BP DEL, 96C deletion Pathogenic
11 CHSY1 NM_014918.4(CHSY1): c.1218C> T (p.Asp406=) single nucleotide variant Benign/Likely benign rs113219895 GRCh37 Chromosome 15, 101718784: 101718784
12 CHSY1 NM_014918.4(CHSY1): c.1218C> T (p.Asp406=) single nucleotide variant Benign/Likely benign rs113219895 GRCh38 Chromosome 15, 101178579: 101178579
13 CHSY1 NM_014918.4(CHSY1): c.1052A> G (p.Lys351Arg) single nucleotide variant Benign rs74752435 GRCh37 Chromosome 15, 101718950: 101718950
14 CHSY1 NM_014918.4(CHSY1): c.1052A> G (p.Lys351Arg) single nucleotide variant Benign rs74752435 GRCh38 Chromosome 15, 101178745: 101178745
15 CHSY1 NM_014918.4(CHSY1): c.1812G> A (p.Val604=) single nucleotide variant Benign rs3803422 GRCh37 Chromosome 15, 101718190: 101718190
16 CHSY1 NM_014918.4(CHSY1): c.1812G> A (p.Val604=) single nucleotide variant Benign rs3803422 GRCh38 Chromosome 15, 101177985: 101177985
17 CHSY1 NM_014918.4(CHSY1): c.1473A> G (p.Gln491=) single nucleotide variant Benign rs76457230 GRCh37 Chromosome 15, 101718529: 101718529
18 CHSY1 NM_014918.4(CHSY1): c.1473A> G (p.Gln491=) single nucleotide variant Benign rs76457230 GRCh38 Chromosome 15, 101178324: 101178324
19 CHSY1 NM_014918.4(CHSY1): c.1896C> T (p.Val632=) single nucleotide variant Benign rs3803423 GRCh37 Chromosome 15, 101718106: 101718106
20 CHSY1 NM_014918.4(CHSY1): c.1896C> T (p.Val632=) single nucleotide variant Benign rs3803423 GRCh38 Chromosome 15, 101177901: 101177901
21 CHSY1 NM_014918.4(CHSY1): c.1006C> T (p.Arg336Cys) single nucleotide variant Uncertain significance rs1320280755 GRCh38 Chromosome 15, 101178791: 101178791
22 CHSY1 NM_014918.4(CHSY1): c.1006C> T (p.Arg336Cys) single nucleotide variant Uncertain significance rs1320280755 GRCh37 Chromosome 15, 101718996: 101718996
23 CHSY1 NM_014918.4(CHSY1): c.333G> A (p.Lys111=) single nucleotide variant Benign rs117481449 GRCh38 Chromosome 15, 101235565: 101235565
24 CHSY1 NM_014918.4(CHSY1): c.333G> A (p.Lys111=) single nucleotide variant Benign rs117481449 GRCh37 Chromosome 15, 101775770: 101775770
25 CHSY1 NM_014918.4(CHSY1): c.179_190dup (p.Gly63_Asp64insGlyAlaArgGly) duplication Uncertain significance rs1555437965 GRCh37 Chromosome 15, 101791472: 101791483
26 CHSY1 NM_014918.4(CHSY1): c.179_190dup (p.Gly63_Asp64insGlyAlaArgGly) duplication Uncertain significance rs1555437965 GRCh38 Chromosome 15, 101251267: 101251278

Expression for Temtamy Preaxial Brachydactyly Syndrome

Search GEO for disease gene expression data for Temtamy Preaxial Brachydactyly Syndrome.

Pathways for Temtamy Preaxial Brachydactyly Syndrome

Pathways related to Temtamy Preaxial Brachydactyly Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate hsa00532

GO Terms for Temtamy Preaxial Brachydactyly Syndrome

Biological processes related to Temtamy Preaxial Brachydactyly Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cartilage development GO:0051216 8.62 BMP4 CHSY1

Sources for Temtamy Preaxial Brachydactyly 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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