MCID: TMT002
MIFTS: 29

Temtamy Preaxial Brachydactyly Syndrome

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

Aliases & Classifications for Temtamy Preaxial Brachydactyly Syndrome

MalaCards integrated aliases for Temtamy Preaxial Brachydactyly Syndrome:

Name: Temtamy Preaxial Brachydactyly Syndrome 57 12 53 59 75 37 29 13 6 15 73
Preaxial Brachydactyly Syndrome, Temtamy Type 57 12 53
Tpbs 57 75
Mental Retardation Syndrome with Preaxial Brachydactyly, Hyperphalangism, Deafness and Orodental Anomalies 53
Preaxial Brachydactyly Syndrome Temtamy Type 75
Brachydactyly, Temtamy, Preaxial, Syndrome 40

Characteristics:

Orphanet epidemiological data:

59
temtamy preaxial brachydactyly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
temtamy preaxial brachydactyly syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 605282
Disease Ontology 12 DOID:0050814
Orphanet 59 ORPHA363417
UMLS via Orphanet 74 C1854466
ICD10 via Orphanet 34 Q87.2
MedGen 42 C1854466
MeSH 44 D000015
KEGG 37 H01497
UMLS 73 C1854466

Summaries for Temtamy Preaxial Brachydactyly Syndrome

UniProtKB/Swiss-Prot : 75 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 cleft palate and blue sclerae

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 11.3
2 brachydactyly 10.4

Symptoms & Phenotypes for Temtamy Preaxial Brachydactyly Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Temtamy Preaxial Brachydactyly Syndrome:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 cleft palate 32 occasional (7.5%) HP:0000175
2 blue sclerae 32 occasional (7.5%) HP:0000592
3 optic atrophy 32 occasional (7.5%) HP:0000648
4 synophrys 32 HP:0000664
5 microdontia 32 HP:0000691
6 diastema 32 HP:0000699
7 brachydactyly 32 HP:0001156
8 syndactyly 32 HP:0001159
9 hitchhiker thumb 32 HP:0001234
10 deep philtrum 32 HP:0002002
11 highly arched eyebrow 32 HP:0002553
12 radioulnar synostosis 32 occasional (7.5%) HP:0002974
13 tarsal synostosis 32 HP:0008368
14 bilateral sensorineural hearing impairment 32 HP:0008619
15 carpal synostosis 32 HP:0009702
16 short metacarpal 32 HP:0010049
17 short metatarsal 32 HP:0010743
18 talon cusp 32 HP:0011087
19 clinodactyly 32 HP:0030084

GenomeRNAi Phenotypes related to Temtamy Preaxial Brachydactyly Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell number in S GR00096-A 8.62 BMP4 CHSY1

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 29 CHSY1

Anatomical Context for Temtamy Preaxial Brachydactyly Syndrome

MalaCards organs/tissues related to Temtamy Preaxial Brachydactyly Syndrome:

41
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:

75
# 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 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHSY1 CHSY1, 30-BP DEL, NT55 deletion Pathogenic
2 CHSY1 CHSY1, 1-BP DEL, 14G deletion Pathogenic
3 CHSY1 NM_014918.4(CHSY1): c.205C> T (p.Gln69Ter) single nucleotide variant Pathogenic rs387906984 GRCh37 Chromosome 15, 101791457: 101791457
4 CHSY1 NM_014918.4(CHSY1): c.205C> T (p.Gln69Ter) single nucleotide variant Pathogenic rs387906984 GRCh38 Chromosome 15, 101251252: 101251252
5 CHSY1 CHSY1, IVS1AS, C-G, -3 single nucleotide variant Pathogenic
6 CHSY1 NM_014918.4(CHSY1): c.1616C> G (p.Pro539Arg) single nucleotide variant Pathogenic rs387906985 GRCh37 Chromosome 15, 101718386: 101718386
7 CHSY1 NM_014918.4(CHSY1): c.1616C> G (p.Pro539Arg) single nucleotide variant Pathogenic rs387906985 GRCh38 Chromosome 15, 101178181: 101178181
8 CHSY1 CHSY1, 1-BP DEL, 96C deletion Pathogenic
9 CHSY1 NM_014918.4(CHSY1): c.1218C> T (p.Asp406=) single nucleotide variant Benign/Likely benign rs113219895 GRCh37 Chromosome 15, 101718784: 101718784
10 CHSY1 NM_014918.4(CHSY1): c.1218C> T (p.Asp406=) single nucleotide variant Benign/Likely benign rs113219895 GRCh38 Chromosome 15, 101178579: 101178579
11 CHSY1 NM_014918.4(CHSY1): c.1052A> G (p.Lys351Arg) single nucleotide variant Benign rs74752435 GRCh37 Chromosome 15, 101718950: 101718950
12 CHSY1 NM_014918.4(CHSY1): c.1052A> G (p.Lys351Arg) single nucleotide variant Benign rs74752435 GRCh38 Chromosome 15, 101178745: 101178745
13 CHSY1 NM_014918.4(CHSY1): c.1812G> A (p.Val604=) single nucleotide variant Benign rs3803422 GRCh37 Chromosome 15, 101718190: 101718190
14 CHSY1 NM_014918.4(CHSY1): c.1812G> A (p.Val604=) single nucleotide variant Benign rs3803422 GRCh38 Chromosome 15, 101177985: 101177985
15 CHSY1 NM_014918.4(CHSY1): c.1473A> G (p.Gln491=) single nucleotide variant Benign rs76457230 GRCh37 Chromosome 15, 101718529: 101718529
16 CHSY1 NM_014918.4(CHSY1): c.1473A> G (p.Gln491=) single nucleotide variant Benign rs76457230 GRCh38 Chromosome 15, 101178324: 101178324
17 CHSY1 NM_014918.4(CHSY1): c.1896C> T (p.Val632=) single nucleotide variant Benign rs3803423 GRCh37 Chromosome 15, 101718106: 101718106
18 CHSY1 NM_014918.4(CHSY1): c.1896C> T (p.Val632=) single nucleotide variant Benign rs3803423 GRCh38 Chromosome 15, 101177901: 101177901
19 CHSY1 NM_014918.4(CHSY1): c.333G> A (p.Lys111=) single nucleotide variant Benign rs117481449 GRCh38 Chromosome 15, 101235565: 101235565
20 CHSY1 NM_014918.4(CHSY1): c.333G> A (p.Lys111=) single nucleotide variant Benign rs117481449 GRCh37 Chromosome 15, 101775770: 101775770

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:

37
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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