KPC
MCID: KRT020
MIFTS: 23

Keratoconus Posticus Circumscriptus (KPC)

Categories: Rare diseases

Aliases & Classifications for Keratoconus Posticus Circumscriptus

MalaCards integrated aliases for Keratoconus Posticus Circumscriptus:

Name: Keratoconus Posticus Circumscriptus 56 74 52 71
Kpc 56 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
keratoconus posticus circumscriptus:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Keratoconus Posticus Circumscriptus

MalaCards based summary : Keratoconus Posticus Circumscriptus, also known as kpc, is related to keratoconus and 48,xyyy. Affiliated tissues include eye, kidney and brain, and related phenotypes are hypertelorism and short neck

Wikipedia : 74 Keratoconus (KC) is a disorder of the eye which results in progressive thinning of the cornea. This may... more...

More information from OMIM: 244600

Related Diseases for Keratoconus Posticus Circumscriptus

Diseases related to Keratoconus Posticus Circumscriptus via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 keratoconus 11.0
2 48,xyyy 10.8
3 cataract 10.5
4 cleft lip 10.5
5 cleft lip/palate 10.5
6 pancreatic cancer 10.4
7 pancreatic ductal adenocarcinoma 10.4
8 toxic shock syndrome 10.3
9 neutropenia 10.3
10 acute cystitis 10.3
11 klebsiella pneumonia 10.2
12 peritonitis 10.2
13 rare surgical neurologic disease 10.2
14 bacterial infectious disease 10.1
15 meningitis 10.1
16 stenotrophomonas maltophilia infection 10.1
17 leukemia, chronic lymphocytic 10.0
18 lymphoma, hodgkin, classic 10.0
19 lymphoma, non-hodgkin, familial 10.0
20 creatinine clearance quantitative trait locus 10.0
21 diabetes mellitus, ketosis-prone 10.0
22 alpha-1-antitrypsin deficiency 10.0
23 cholangitis, primary sclerosing 10.0
24 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 10.0
25 leukemia, acute lymphoblastic 3 10.0
26 cholangiocarcinoma 10.0
27 aspiration pneumonia 10.0
28 osteomyelitis 10.0
29 lymphocytic leukemia 10.0
30 meningoencephalitis 10.0
31 short bowel syndrome 10.0
32 pyelonephritis 10.0
33 acute kidney tubular necrosis 10.0
34 bacteriuria 10.0
35 sclerosing cholangitis 10.0
36 adenocarcinoma 10.0
37 acute kidney failure 10.0
38 cellulitis 10.0
39 intrahepatic cholangiocarcinoma 10.0
40 kidney disease 10.0
41 pyomyositis 10.0
42 cholangitis 10.0
43 47,xyy 10.0
44 bronchopulmonary dysplasia 10.0
45 brain injury 10.0
46 spinal cord injury 10.0
47 traumatic brain injury 10.0

Graphical network of the top 20 diseases related to Keratoconus Posticus Circumscriptus:



Diseases related to Keratoconus Posticus Circumscriptus

Symptoms & Phenotypes for Keratoconus Posticus Circumscriptus

Human phenotypes related to Keratoconus Posticus Circumscriptus:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 short neck 31 HP:0000470
3 global developmental delay 31 HP:0001263
4 brachydactyly 31 HP:0001156
5 cleft palate 31 HP:0000175
6 recurrent urinary tract infections 31 HP:0000010
7 growth delay 31 HP:0001510
8 webbed neck 31 HP:0000465
9 clinodactyly of the 5th finger 31 HP:0004209
10 vesicoureteral reflux 31 HP:0000076
11 cleft upper lip 31 HP:0000204
12 keratoconus 31 HP:0000563
13 abnormal vertebral segmentation and fusion 31 HP:0005640
14 limited elbow extension and supination 31 HP:0005852
15 central posterior corneal opacity 31 HP:0008511

Symptoms via clinical synopsis from OMIM:

56
H E E N T:
hypertelorism
cleft lip/palate
corneal nebulae
posterior corneal depression
central posterior corneal opacities

Growth:
retarded growth

G U:
frequent urinary tract infections
ureteric reflux

Skel:
brachydactyly
webbed neck
abnormal vertebral segmentation and fusion
limited elbow extension and supination
fifth finger clinodactyly
more
Neuro:
retarded mental development

Clinical features from OMIM:

244600

Drugs & Therapeutics for Keratoconus Posticus Circumscriptus

Search Clinical Trials , NIH Clinical Center for Keratoconus Posticus Circumscriptus

Genetic Tests for Keratoconus Posticus Circumscriptus

Anatomical Context for Keratoconus Posticus Circumscriptus

MalaCards organs/tissues related to Keratoconus Posticus Circumscriptus:

40
Eye, Kidney, Brain, Spinal Cord

Publications for Keratoconus Posticus Circumscriptus

Articles related to Keratoconus Posticus Circumscriptus:

# Title Authors PMID Year
1
Keratoconus posticus circumscriptus, cleft lip and palate, genitourinary abnormalities, short stature, and mental retardation in sibs. 61 56
7143385 1982
2
The occurrence of congenital keratoconus posticus circumscriptus in two siblings presenting a previously unrecognized syndrome. 61 56
13711210 1961
3
Posterior conical cornea. 56
13396169 1957
4
[The histopathology of keratoconus posticus circumscriptus]. 61
3543471 1986
5
Sterile corneal perforation after cataract surgery in keratoconus posticus circumscriptus. 61
3843344 1985
6
Bilateral keratoconus posticus circumscriptus: a case report. 61
517635 1979
7
Keratoconus posticus circumscriptus with indentation of the lens. 61
6029234 1967
8
Histopathology of keratoconus posticus circumscriptus. 61
14001685 1963
9
Keratoconus posticus circumscriptus; report of a case. 61
21012377 1945
10
TWO RARE CORNEAL CONDITIONS: I. Acute Conical Cornea II. Keratoconus Posticus Circumscriptus. 61
18169003 1932

Variations for Keratoconus Posticus Circumscriptus

Expression for Keratoconus Posticus Circumscriptus

Search GEO for disease gene expression data for Keratoconus Posticus Circumscriptus.

Pathways for Keratoconus Posticus Circumscriptus

GO Terms for Keratoconus Posticus Circumscriptus

Sources for Keratoconus Posticus Circumscriptus

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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