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 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:

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: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly involving limbs

Orphanet: ⁶⁰

Rare neurological diseases

Rare otorhinolaryngological diseases

Rare bone diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

Rare odontological diseases

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

SNOMED-CT via HPO ⁷⁰ 17268007 194424005 204164000 more

UMLS ⁷⁴ C1854466

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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

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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
1	catel-manzke syndrome	11.4
2	brachydactyly	10.6
3	trypanosomiasis	10.2

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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

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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 ³⁰	CHSY1

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Anatomical Context for Temtamy Preaxial Brachydactyly Syndrome

MalaCards organs/tissues related to Temtamy Preaxial Brachydactyly Syndrome:

⁴²

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	1708.57	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	9823490 21129728 21129727 (more) 19952732
2	TGDS	TDP-Glucose 4,6-Dehydratase	Protein Coding	17.35	DISEASES inferred ¹⁵
3	BMP4	Bone Morphogenetic Protein 4	Protein Coding	14.99	DISEASES inferred ¹⁵

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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

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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:

³⁸

#	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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²¹ GeneAnalytics

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²⁴ GeneHancer via GeneCards

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²⁹ GO

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³⁵ ICD10 via Orphanet

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⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Temtamy Preaxial Brachydactyly Syndrome (TPBS)

Aliases & Classifications for Temtamy Preaxial Brachydactyly Syndrome

MalaCards integrated aliases for Temtamy Preaxial Brachydactyly Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Temtamy Preaxial Brachydactyly Syndrome

Related Diseases for Temtamy Preaxial Brachydactyly Syndrome

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

Symptoms & Phenotypes for Temtamy Preaxial Brachydactyly Syndrome

Human phenotypes related to Temtamy Preaxial Brachydactyly Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Temtamy Preaxial Brachydactyly Syndrome:

Drugs & Therapeutics for Temtamy Preaxial Brachydactyly Syndrome

Genetic Tests for Temtamy Preaxial Brachydactyly Syndrome

Genetic tests related to Temtamy Preaxial Brachydactyly Syndrome:

Anatomical Context for Temtamy Preaxial Brachydactyly Syndrome

MalaCards organs/tissues related to Temtamy Preaxial Brachydactyly Syndrome:

Publications for Temtamy Preaxial Brachydactyly Syndrome

Articles related to Temtamy Preaxial Brachydactyly Syndrome:

Genes for Temtamy Preaxial Brachydactyly Syndrome

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

Variations for Temtamy Preaxial Brachydactyly Syndrome

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

ClinVar genetic disease variations for Temtamy Preaxial Brachydactyly Syndrome:

Expression for Temtamy Preaxial Brachydactyly Syndrome

Pathways for Temtamy Preaxial Brachydactyly Syndrome

Pathways related to Temtamy Preaxial Brachydactyly Syndrome according to KEGG:

GO Terms for Temtamy Preaxial Brachydactyly Syndrome

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

Sources for Temtamy Preaxial Brachydactyly Syndrome