Keipert Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

KPTS MCID: KPR003 MIFTS: 25	Keipert Syndrome (KPTS) Categories: Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Keipert Syndrome

MalaCards integrated aliases for Keipert Syndrome:

Name: Keipert Syndrome ⁵⁷ ⁵⁹ ³⁷ ⁶

Nasodigitoacoustic Syndrome, Formerly ⁵⁷

Nasodigitoacoustic Syndrome ⁵⁹

Kpts ⁵⁷

Characteristics:

OMIM:

⁵⁷

Inheritance:
x-linked recessive

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare 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 affecting facial appearance

Orphanet: ⁵⁹

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 301026

KEGG ³⁷ H02326

ICD10 via Orphanet ³⁴ Q87.0

UMLS via Orphanet ⁷³ C1850627

Orphanet ⁵⁹ ORPHA2662

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Summaries for Keipert Syndrome

OMIM : ⁵⁷ Keipert syndrome (KPTS) is characterized by craniofacial and digital abnormalities and variable learning difficulties. The distinctive facial appearance includes broad forehead, hypertelorism, prominent nose, wide mouth, and prominent upper lip with cupid bow configuration. Digital anomalies are also distinctive, with widening of all distal phalanges, particularly of the thumbs and great toes (Amor et al., 2019). (301026)

MalaCards based summary : Keipert Syndrome, also known as nasodigitoacoustic syndrome, formerly, is related to nasodigitoacoustic syndrome and branchiootic syndrome 1. An important gene associated with Keipert Syndrome is GPC4 (Glypican 4), and among its related pathways/superpathways is Wnt signaling pathway. Affiliated tissues include heart, and related phenotypes are hypertelorism and depressed nasal bridge

KEGG : ³⁷

Keipert syndrome is a rare, X-linked disorder characterized by craniofacial and digital abnormalities and variable learning difficulties and sensorineural deafness. It has been reported that pathogenic variants in GPC4 cause this disease.

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Related Diseases for Keipert Syndrome

Diseases related to Keipert Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	nasodigitoacoustic syndrome	12.1
2	branchiootic syndrome 1	10.4
3	alcohol dependence	10.3
4	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.3
5	sensorineural hearing loss	10.3
6	hypertelorism	10.1
7	fibrous dysplasia	10.1

Graphical network of the top 20 diseases related to Keipert Syndrome:

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Symptoms & Phenotypes for Keipert Syndrome

Human phenotypes related to Keipert Syndrome:

⁵⁹ ³² (show all 25)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hypertelorism ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000316
2	depressed nasal bridge ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0005280
3	sensorineural hearing impairment ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000407
4	broad hallux phalanx ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0010059
5	broad thumb ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0011304
6	prominent nasal bridge ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000426
7	broad forehead ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000337
8	short hallux ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0010109
9	short distal phalanx of finger ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0009882
10	aplasia/hypoplasia of the distal phalanges of the toes ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0010185
11	broad distal phalanx of finger ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0009836
12	macrocephaly ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000256
13	ptosis ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000508
14	tented upper lip vermilion ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0010804
15	epicanthus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000286
16	clinodactyly of the 5th finger ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0004209
17	hypoplasia of the maxilla ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000327
18	hoarse voice ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001609
19	aplastic/hypoplastic toenail ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0010624
20	exaggerated cupid's bow ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002263
21	abnormality of cardiovascular system morphology ³²	frequent (33%)		HP:0030680
22	behavioral abnormality ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000708
23	short stature ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0004322
24	cognitive impairment ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0100543
25	malformation of the heart and great vessels ⁵⁹		Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Head:
macrocephaly

Head And Neck Eyes:
hypertelorism

Skeletal Hands:
clinodactyly
brachydactyly
broad thumbs
broad distal phalanges

Head And Neck Face:
prominent forehead
flat midface

Head And Neck Nose:
prominent nose
broad nose

Skin Nails Hair Nails:
absent toenails (rare)

Skeletal Skull:
macrocephaly

Head And Neck Ears:
low-set ears
simple ears
sensorineural hearing loss (in 1 family)

Skeletal Feet:
clinodactyly
broad halluces
broad distal phalanges

Head And Neck Mouth:
downturned corners of mouth
prominent upper lip
cupid bow upper lip

Neurologic Central Nervous System:
intellectual disability, mild to moderate

Neurologic Behavioral Psychiatric Manifestations:
autism or autistic traits (in some patients)

Clinical features from OMIM:

301026

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Drugs & Therapeutics for Keipert Syndrome

Search Clinical Trials , NIH Clinical Center for Keipert Syndrome

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Genetic Tests for Keipert Syndrome

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Anatomical Context for Keipert Syndrome

MalaCards organs/tissues related to Keipert Syndrome:

⁴¹

Heart

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Publications for Keipert Syndrome

Articles related to Keipert Syndrome:

(show all 12)

#	Title	Authors	PMID	Year
1	Pathogenic Variants in GPC4 Cause Keipert Syndrome. ³⁸ ⁸ ⁷¹	Amor DJ...Lockhart PJ	30982611	2019
2	A new syndrome of broad terminal phalanges and facial abnormalities. ⁸ ⁷¹	Keipert JA...Danks DM	4708024	1973
3	A patient with Keipert syndrome and isolated fibrous dysplasia of the sphenoid sinus. ³⁸ ⁸	Derbent M...Agildere M	21567928	2011
4	Keipert syndrome: two further cases and review of the literature. ³⁸ ⁸	Nik-Zainal S...Shaw-Smith C	18541962	2008
5	Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28. ³⁸ ⁸	Amor DJ...Bankier A	17726694	2007
6	Daughter and her mildly affected father with Keipert syndrome. ³⁸ ⁸	Dumic M...Potocki K	17036315	2006
7	Broad thumbs and halluces with deafness: a patient with Keipert syndrome. ³⁸ ⁸	Reardon W...Hall CM	12605449	2003
8	Keipert syndrome in two brothers from Turkey. ³⁸ ⁸	Balci S...Dagli S	9001804	1996
9	Individual motivation and threat indicators of collaboration readiness in scientific knowledge producing teams: a scoping review and domain analysis. ³⁸	Lotrecchiano GR...Falk-Krzesinski HJ	27398411	2016
10	[Process evaluation in relation to effectiveness assessment: experiences with school-based programs]. ³⁸	Ariza C...Nebot M	22055549	2011
11	Additional case of Keipert syndrome and review of the literature. ³⁸	Cappon SM...Khalifa MM	11208408	2000
12	The laparoscopic management of post-transplant lymphocele. A critical review. ³⁸	Melvin WS...Ferguson RM	9079601	1997

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Genes for Keipert Syndrome

Genes related to Keipert Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GPC4	Glypican 4	Protein Coding	917.97	Molecular basis known ⁵⁷ Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	4708024 30982611

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Variations for Keipert Syndrome

ClinVar genetic disease variations for Keipert Syndrome:

⁶

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	GPC4	NM_001448.3(GPC4): c.1516C> T (p.Gln506Ter)	single nucleotide variant	Pathogenic	rs1556022641	X:132437050-132437050	X:133303022-133303022
2	GPC4	NM_001448.3(GPC4): c.1486G> T (p.Glu496Ter)	single nucleotide variant	Pathogenic	rs1556022644	X:132437080-132437080	X:133303052-133303052
3	GPC4	NM_001448.3(GPC4): c.701dup (p.Val235fs)	duplication	Pathogenic	rs1556025980	X:132458183-132458183	X:133324155-133324155
4	GPC4	NM_001448.3(GPC4): c.316del (p.Asp106fs)	deletion	Pathogenic	rs1556028269	X:132473214-132473214	X:133339186-133339186
5	GPC4	NM_001448.3(GPC4): c.1518_1521dup (p.Pro508fs)	duplication	Pathogenic		X:132437044-132437045	X:133303017-133303020
6	GPC4	NM_001448.3(GPC4): c.742del (p.Leu248fs)	deletion	Pathogenic		X:132445423-132445423	X:133311395-133311395

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Expression for Keipert Syndrome

Search GEO for disease gene expression data for Keipert Syndrome.

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Pathways for Keipert Syndrome

Pathways related to Keipert Syndrome according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	Wnt signaling pathway	hsa04310

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GO Terms for Keipert Syndrome

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Sources for Keipert Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Keipert Syndrome (KPTS)

Aliases & Classifications for Keipert Syndrome

MalaCards integrated aliases for Keipert Syndrome:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Keipert Syndrome

Related Diseases for Keipert Syndrome

Diseases related to Keipert Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Keipert Syndrome:

Symptoms & Phenotypes for Keipert Syndrome

Human phenotypes related to Keipert Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Keipert Syndrome

Genetic Tests for Keipert Syndrome

Anatomical Context for Keipert Syndrome

MalaCards organs/tissues related to Keipert Syndrome:

Publications for Keipert Syndrome

Articles related to Keipert Syndrome:

Genes for Keipert Syndrome

Genes related to Keipert Syndrome (1 elite genes):

Variations for Keipert Syndrome

ClinVar genetic disease variations for Keipert Syndrome:

Expression for Keipert Syndrome

Pathways for Keipert Syndrome

Pathways related to Keipert Syndrome according to KEGG:

GO Terms for Keipert Syndrome

Sources for Keipert Syndrome