KPTS
MCID: KPR003
MIFTS: 25

Keipert Syndrome (KPTS)

Categories: Fetal diseases, Genetic diseases, Rare diseases

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:



External Ids:

OMIM 57 301026
KEGG 37 H02326
ICD10 via Orphanet 34 Q87.0
UMLS via Orphanet 73 C1850627
Orphanet 59 ORPHA2662

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.

Related Diseases for Keipert Syndrome

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

# Related Disease Score Top Affiliating Genes
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:



Diseases related to Keipert Syndrome

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

Drugs & Therapeutics for Keipert Syndrome

Search Clinical Trials , NIH Clinical Center for Keipert Syndrome

Genetic Tests for Keipert Syndrome

Anatomical Context for Keipert Syndrome

MalaCards organs/tissues related to Keipert Syndrome:

41
Heart

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
30982611 2019
2
A new syndrome of broad terminal phalanges and facial abnormalities. 8 71
4708024 1973
3
A patient with Keipert syndrome and isolated fibrous dysplasia of the sphenoid sinus. 38 8
21567928 2011
4
Keipert syndrome: two further cases and review of the literature. 38 8
18541962 2008
5
Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28. 38 8
17726694 2007
6
Daughter and her mildly affected father with Keipert syndrome. 38 8
17036315 2006
7
Broad thumbs and halluces with deafness: a patient with Keipert syndrome. 38 8
12605449 2003
8
Keipert syndrome in two brothers from Turkey. 38 8
9001804 1996
9
Individual motivation and threat indicators of collaboration readiness in scientific knowledge producing teams: a scoping review and domain analysis. 38
27398411 2016
10
[Process evaluation in relation to effectiveness assessment: experiences with school-based programs]. 38
22055549 2011
11
Additional case of Keipert syndrome and review of the literature. 38
11208408 2000
12
The laparoscopic management of post-transplant lymphocele. A critical review. 38
9079601 1997

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

Expression for Keipert Syndrome

Search GEO for disease gene expression data for Keipert Syndrome.

Pathways for Keipert Syndrome

Pathways related to Keipert Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

GO Terms for Keipert Syndrome

Sources for Keipert Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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