KPC
MCID: KRT020
MIFTS: 20

Keratoconus Posticus Circumscriptus (KPC)

Categories: Rare diseases

Aliases & Classifications for Keratoconus Posticus Circumscriptus

MalaCards integrated aliases for Keratoconus Posticus Circumscriptus:

Name: Keratoconus Posticus Circumscriptus 57 75 53 72
Kpc 57 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
keratoconus posticus circumscriptus:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 244600
MedGen 42 C1855645
UMLS 72 C1855645

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, and related phenotypes are hypertelorism and short neck

Wikipedia : 75 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 48)
# 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 10.3
7 pancreatic ductal adenocarcinoma 10.3
8 neutropenia 10.3
9 acute cystitis 10.3
10 toxic shock syndrome 10.3
11 klebsiella pneumonia 10.2
12 peritonitis 10.2
13 stenotrophomonas maltophilia infection 10.1
14 hematopoietic stem cell transplantation 10.1
15 rare surgical neurologic disease 10.1
16 leukemia, chronic lymphocytic 10.0
17 lymphoma, hodgkin, classic 10.0
18 lymphoma, non-hodgkin, familial 10.0
19 creatinine clearance quantitative trait locus 10.0
20 diabetes mellitus, ketosis-prone 10.0
21 alpha-1-antitrypsin deficiency 10.0
22 cholangitis, primary sclerosing 10.0
23 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 10.0
24 cholangiocarcinoma 10.0
25 aspiration pneumonia 10.0
26 osteomyelitis 10.0
27 lymphocytic leukemia 10.0
28 bacterial infectious disease 10.0
29 meningoencephalitis 10.0
30 short bowel syndrome 10.0
31 pyelonephritis 10.0
32 acute kidney tubular necrosis 10.0
33 bacteriuria 10.0
34 sclerosing cholangitis 10.0
35 adenocarcinoma 10.0
36 acute kidney failure 10.0
37 cellulitis 10.0
38 intrahepatic cholangiocarcinoma 10.0
39 kidney disease 10.0
40 pyomyositis 10.0
41 cholangitis 10.0
42 meningitis 10.0
43 47,xyy 10.0
44 bronchopulmonary dysplasia 10.0
45 leukemia, b-cell, chronic 10.0
46 brain injury 10.0
47 spinal cord injury 10.0
48 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:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 short neck 32 HP:0000470
3 global developmental delay 32 HP:0001263
4 cleft palate 32 HP:0000175
5 recurrent urinary tract infections 32 HP:0000010
6 growth delay 32 HP:0001510
7 webbed neck 32 HP:0000465
8 clinodactyly of the 5th finger 32 HP:0004209
9 cleft upper lip 32 HP:0000204
10 vesicoureteral reflux 32 HP:0000076
11 brachydactyly 32 HP:0001156
12 keratoconus 32 HP:0000563
13 abnormal vertebral segmentation and fusion 32 HP:0005640
14 limited elbow extension and supination 32 HP:0005852
15 central posterior corneal opacity 32 HP:0008511

Symptoms via clinical synopsis from OMIM:

57
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:
webbed neck
brachydactyly
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:

41
Eye

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. 38 8
7143385 1982
2
The occurrence of congenital keratoconus posticus circumscriptus in two siblings presenting a previously unrecognized syndrome. 38 8
13711210 1961
3
Posterior conical cornea. 8
13396169 1957
4
[The histopathology of keratoconus posticus circumscriptus]. 38
3543471 1986
5
Sterile corneal perforation after cataract surgery in keratoconus posticus circumscriptus. 38
3843344 1985
6
Bilateral keratoconus posticus circumscriptus: a case report. 38
517635 1979
7
Keratoconus posticus circumscriptus with indentation of the lens. 38
6029234 1967
8
Histopathology of keratoconus posticus circumscriptus. 38
14001685 1963
9
Keratoconus posticus circumscriptus; report of a case. 38
21012377 1945
10
TWO RARE CORNEAL CONDITIONS: I. Acute Conical Cornea II. Keratoconus Posticus Circumscriptus. 38
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 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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