KNS
MCID: SPL055
MIFTS: 20

Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts (KNS)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Split-Hand with Congenital Nystagmus, Fundal Changes, and...

MalaCards integrated aliases for Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts:

Name: Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts 56 71
Karsch-Neugebauer Syndrome 56 74 58
Split Hand/split Foot-Nystagmus Syndrome 58
Karsch-Neugebauer Syndrome; Kns 56
Nystagmus-Split Hand Syndrome 56
Kns 56

Characteristics:

Orphanet epidemiological data:

58
karsch-neugebauer syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
split-hand with congenital nystagmus, fundal changes, and cataracts:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 183800
MESH via Orphanet 44 C537319
ICD10 via Orphanet 33 Q87.2
UMLS via Orphanet 72 C1866740
Orphanet 58 ORPHA2329
MedGen 41 C1866740
UMLS 71 C1866740

Summaries for Split-Hand with Congenital Nystagmus, Fundal Changes, and...

MalaCards based summary : Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts, also known as karsch-neugebauer syndrome, is related to split hand split foot nystagmus and congenital nystagmus. Affiliated tissues include bone, and related phenotypes are nystagmus and cataract

Wikipedia : 74 Ectrodactyly, split hand, cleft hand, derived from the Greek ektroma (abortion) and daktylos (finger)... more...

More information from OMIM: 183800

Related Diseases for Split-Hand with Congenital Nystagmus, Fundal Changes, and...

Diseases related to Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 split hand split foot nystagmus 11.9
2 congenital nystagmus 10.7
3 pathologic nystagmus 10.7
4 neural tube defects 10.3
5 systemic lupus erythematosus 10.2
6 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
7 pain agnosia 10.2
8 arthropathy 10.2
9 alopecia 10.2
10 48,xyyy 10.2
11 discoid lupus erythematosus 10.2

Graphical network of the top 20 diseases related to Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts:



Diseases related to Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts

Symptoms & Phenotypes for Split-Hand with Congenital Nystagmus, Fundal Changes, and...

Human phenotypes related to Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 cataract 31 HP:0000518
3 retinopathy 31 HP:0000488
4 strabismus 31 HP:0000486
5 split hand 31 HP:0001171
6 split foot 31 HP:0001839
7 congenital nystagmus 31 HP:0006934
8 hand monodactyly 31 HP:0004058

Symptoms via clinical synopsis from OMIM:

56
Eye:
nystagmus
cataract
retinopathy
squint

Limbs:
split hand
ectrodactyly
split foot
monodactyly

Clinical features from OMIM:

183800

Drugs & Therapeutics for Split-Hand with Congenital Nystagmus, Fundal Changes, and...

Search Clinical Trials , NIH Clinical Center for Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts

Genetic Tests for Split-Hand with Congenital Nystagmus, Fundal Changes, and...

Anatomical Context for Split-Hand with Congenital Nystagmus, Fundal Changes, and...

MalaCards organs/tissues related to Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts:

40
Bone

Publications for Split-Hand with Congenital Nystagmus, Fundal Changes, and...

Articles related to Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts:

# Title Authors PMID Year
1
Karsch-Neugebauer syndrome in two sibs with unaffected parents. 61 56
9450888 1998
2
Karsch-Neugebauer syndrome: split foot/split hand and congenital nystagmus. 61 56
3978843 1985
3
[Split hand and foot with familial occurrence]. 56
14479171 1962
4
An unusual occurrence of Karsch-Neugebauer syndrome with orodental anomalies. 61
23066244 2012
5
[Karsch-Neugebauer syndrome]. 61
11528765 2001

Variations for Split-Hand with Congenital Nystagmus, Fundal Changes, and...

Expression for Split-Hand with Congenital Nystagmus, Fundal Changes, and...

Search GEO for disease gene expression data for Split-Hand with Congenital Nystagmus, Fundal Changes, and Cataracts.

Pathways for Split-Hand with Congenital Nystagmus, Fundal Changes, and...

GO Terms for Split-Hand with Congenital Nystagmus, Fundal Changes, and...

Sources for Split-Hand with Congenital Nystagmus, Fundal Changes, and...

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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