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 57 72
Karsch-Neugebauer Syndrome 57 75 59
Split Hand/split Foot-Nystagmus Syndrome 59
Karsch-Neugebauer Syndrome; Kns 57
Nystagmus-Split Hand Syndrome 57
Kns 57

Characteristics:

Orphanet epidemiological data:

59
karsch-neugebauer syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
split-hand with congenital nystagmus, fundal changes, and cataracts:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 183800
MESH via Orphanet 45 C537319
ICD10 via Orphanet 34 Q87.2
UMLS via Orphanet 73 C1866740
Orphanet 59 ORPHA2329
MedGen 42 C1866740
UMLS 72 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 : 75 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:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 cataract 32 HP:0000518
3 retinopathy 32 HP:0000488
4 strabismus 32 HP:0000486
5 split hand 32 HP:0001171
6 split foot 32 HP:0001839
7 congenital nystagmus 32 HP:0006934
8 hand monodactyly 32 HP:0004058

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 38 8
9450888 1998
2
Karsch-Neugebauer syndrome: split foot/split hand and congenital nystagmus. 38 8
3978843 1985
3
[Split hand and foot with familial occurrence]. 8
14479171 1962
4
An unusual occurrence of Karsch-Neugebauer syndrome with orodental anomalies. 38
23066244 2012
5
[Karsch-Neugebauer syndrome]. 38
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 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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