Temtamy Preaxial Brachydactyly Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Ear diseases Bone diseases Oral diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly involving limbs

Orphanet: ⁵⁹

Rare neurological diseases

Rare otorhinolaryngological diseases

Rare bone diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

Rare odontological diseases

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

SNOMED-CT via HPO ⁶⁹ 258211005 63567004 87979003 more

UMLS ⁷³ C1854466

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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

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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

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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

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Drugs & Therapeutics for Temtamy Preaxial Brachydactyly Syndrome

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

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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

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Anatomical Context for Temtamy Preaxial Brachydactyly Syndrome

MalaCards organs/tissues related to Temtamy Preaxial Brachydactyly Syndrome:

⁴¹

Bone, Eye

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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 )	Sher G....Naeem M.	2014
2	Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. ( 21129728 )	Li Y....Wollnik B.	2010

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Genes for Temtamy Preaxial Brachydactyly Syndrome

Genes related to Temtamy Preaxial Brachydactyly Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CHSY1	Chondroitin Sulfate Synthase 1	Protein Coding	1708.76	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	21129728 19952732 9823490 (more) 21129727
2	TGDS	TDP-Glucose 4,6-Dehydratase	Protein Coding	17.46	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	BMP4	Bone Morphogenetic Protein 4	Protein Coding	15.08	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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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

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Expression for Temtamy Preaxial Brachydactyly Syndrome

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

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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

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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

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Sources for Temtamy Preaxial Brachydactyly Syndrome

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