KPTS
MCID: KPR003
MIFTS: 29

Keipert Syndrome (KPTS)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Keipert Syndrome

MalaCards integrated aliases for Keipert Syndrome:

Name: Keipert Syndrome 56 12 52 58 73 36 6
Nasodigitoacoustic Syndrome 12 74 52 58 73 43
Kpts 56 12 73
Nasodigitoacoustic Syndrome, Formerly 56

Characteristics:

OMIM:

56
Inheritance:
x-linked recessive


HPO:

31

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Keipert Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2662 Definition A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss , and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis. Visit the Orphanet disease page for more resources.

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

Disease Ontology : 12 A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has material basis in hemizygous mutation in GPC4 on chromosome Xq26.2.

OMIM : 56 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's 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)

KEGG : 36 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.

UniProtKB/Swiss-Prot : 73 Keipert syndrome: An X-linked recessive syndrome characterized by craniofacial and digital abnormalities. Clinical features include a prominent forehead, a flat midface, hypertelorism, a broad nose, downturned corners of mouth, and widening of all distal phalanges. Additional variable features are cognitive impairment and sensorineural deafness.

Wikipedia : 74 Nasodigitoacoustic syndrome, also called Keipert syndrome, is a rare congenital syndrome first described... more...

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 branchiootic syndrome 1 10.4
2 alcohol dependence 10.3
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
4 sensorineural hearing loss 10.3
5 hypertelorism 10.1
6 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:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
4 broad hallux phalanx 58 31 hallmark (90%) Very frequent (99-80%) HP:0010059
5 broad thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0011304
6 prominent nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000426
7 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
8 short hallux 58 31 hallmark (90%) Very frequent (99-80%) HP:0010109
9 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
10 aplasia/hypoplasia of the distal phalanges of the toes 58 31 hallmark (90%) Very frequent (99-80%) HP:0010185
11 broad distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009836
12 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
13 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
14 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
15 hypoplasia of the maxilla 58 31 frequent (33%) Frequent (79-30%) HP:0000327
16 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
17 hoarse voice 58 31 frequent (33%) Frequent (79-30%) HP:0001609
18 tented upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0010804
19 aplastic/hypoplastic toenail 58 31 frequent (33%) Frequent (79-30%) HP:0010624
20 exaggerated cupid's bow 58 31 frequent (33%) Frequent (79-30%) HP:0002263
21 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
22 behavioral abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000708
23 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
24 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
25 absent toenail 31 very rare (1%) HP:0001802
26 intellectual disability 31 HP:0001249
27 narrow palate 31 HP:0000189
28 abnormality of the nail 31 HP:0001597
29 prominent forehead 31 HP:0011220
30 malformation of the heart and great vessels 58 Frequent (79-30%)
31 frontal bossing 31 HP:0002007
32 high palate 31 HP:0000218
33 low-set ears 31 HP:0000369
34 short toe 31 HP:0001831
35 brachydactyly 31 HP:0001156
36 downturned corners of mouth 31 HP:0002714
37 pulmonic stenosis 31 HP:0001642
38 midface retrusion 31 HP:0011800
39 wide nose 31 HP:0000445
40 prominent nose 31 HP:0000448
41 thick upper lip vermilion 31 HP:0000215
42 short phalanx of finger 31 HP:0009803
43 abnormality of the pinna 31 HP:0000377
44 clinodactyly 31 HP:0030084
45 broad hallux 31 HP:0010055
46 enlarged epiphyses 31 HP:0010580
47 low hanging columella 31 HP:0009765
48 short 3rd metacarpal 31 HP:0010041
49 rounded epiphyses 31 HP:0006026

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism

Skeletal Skull:
macrocephaly

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

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

Skeletal Feet:
clinodactyly
broad halluces
broad distal phalanges

Skin Nails Hair Nails:
absent toenails (rare)

Head And Neck Head:
macrocephaly

Head And Neck Face:
prominent forehead
flat midface

Skeletal Hands:
brachydactyly
clinodactyly
broad thumbs
broad distal phalanges

Head And Neck Nose:
prominent nose
broad nose

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

Cochrane evidence based reviews: nasodigitoacoustic syndrome

Genetic Tests for Keipert Syndrome

Anatomical Context for Keipert Syndrome

MalaCards organs/tissues related to Keipert Syndrome:

40
Eye, Heart

Publications for Keipert Syndrome

Articles related to Keipert Syndrome:

# Title Authors PMID Year
1
Pathogenic Variants in GPC4 Cause Keipert Syndrome. 56 6 61
30982611 2019
2
A new syndrome of broad terminal phalanges and facial abnormalities. 6 56
4708024 1973
3
A patient with Keipert syndrome and isolated fibrous dysplasia of the sphenoid sinus. 61 56
21567928 2011
4
Keipert syndrome: two further cases and review of the literature. 61 56
18541962 2008
5
Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28. 56 61
17726694 2007
6
Daughter and her mildly affected father with Keipert syndrome. 56 61
17036315 2006
7
Broad thumbs and halluces with deafness: a patient with Keipert syndrome. 56 61
12605449 2003
8
Keipert syndrome in two brothers from Turkey. 56 61
9001804 1996
9
Additional case of Keipert syndrome and review of the literature. 61
11208408 2000

Variations for Keipert Syndrome

ClinVar genetic disease variations for Keipert Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GPC4 NM_001448.3(GPC4):c.1516C>T (p.Gln506Ter)SNV Pathogenic 547175 rs1556022641 X:132437050-132437050 X:133303022-133303022
2 GPC4 NM_001448.3(GPC4):c.1486G>T (p.Glu496Ter)SNV Pathogenic 547177 rs1556022644 X:132437080-132437080 X:133303052-133303052
3 GPC4 NM_001448.3(GPC4):c.701dup (p.Val235fs)duplication Pathogenic 547176 rs1556025980 X:132458182-132458183 X:133324154-133324155
4 GPC4 NM_001448.3(GPC4):c.316del (p.Asp106fs)deletion Pathogenic 547178 rs1556028269 X:132473214-132473214 X:133339186-133339186
5 GPC4 NM_001448.3(GPC4):c.1518_1521dup (p.Pro508fs)duplication Pathogenic 626360 rs1569339879 X:132437044-132437045 X:133303016-133303017
6 GPC4 NM_001448.3(GPC4):c.742del (p.Leu248fs)deletion Pathogenic 626361 rs1569341521 X:132445421-132445421 X:133311393-133311393

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:

36
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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