MCID: CRM007
MIFTS: 20

Crome Syndrome

Categories: Eye diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Crome Syndrome

MalaCards integrated aliases for Crome Syndrome:

Name: Crome Syndrome 58 77 54 60 74
Congenital Cataracts, Renal Tubular Necrosis and Encephalopathy in Two Sisters 54
Cataract-Nephropathy-Encephalopathy Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
cataract-nephropathy-encephalopathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
crome syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Crome Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1380Disease definitionCataract - nephropathy - encephalopathysyndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.Visit the Orphanet disease page for more resources.

MalaCards based summary : Crome Syndrome, also known as congenital cataracts, renal tubular necrosis and encephalopathy in two sisters, is related to cataract and encephalopathy. Affiliated tissues include eye and kidney, and related phenotypes are intellectual disability and seizures

Wikipedia : 77 Crome syndrome is a rare disease defined by various symptoms, including epilepsy, intellectual... more...

Description from OMIM: 218900

Related Diseases for Crome Syndrome

Diseases related to Crome Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cataract 10.2
2 encephalopathy 10.2

Symptoms & Phenotypes for Crome Syndrome

Human phenotypes related to Crome Syndrome:

60 33 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
3 cataract 60 33 hallmark (90%) Very frequent (99-80%) HP:0000518
4 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
5 renal tubular dysfunction 60 33 hallmark (90%) Very frequent (99-80%) HP:0000124
6 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
7 encephalopathy 33 HP:0001298
8 cerebellar dysplasia 33 HP:0007033
9 developmental cataract 33 HP:0000519
10 acute tubular necrosis 33 HP:0008682

Symptoms via clinical synopsis from OMIM:

58
Eyes:
nystagmus
congenital cataracts

Growth:
short stature

Neuro:
seizures
encephalopathy
cerebellar dysplasia
mental retardation

G U:
renal tubular necrosis

Clinical features from OMIM:

218900

Drugs & Therapeutics for Crome Syndrome

Search Clinical Trials , NIH Clinical Center for Crome Syndrome

Genetic Tests for Crome Syndrome

Anatomical Context for Crome Syndrome

MalaCards organs/tissues related to Crome Syndrome:

42
Eye, Kidney

Publications for Crome Syndrome

Articles related to Crome Syndrome:

# Title Authors Year
1
CONGENITAL CATARACTS, RENAL TUBULAR NECROSIS AND ENCEPHALOPATHY IN TWO SISTERS. ( 14065995 )
1963

Variations for Crome Syndrome

Expression for Crome Syndrome

Search GEO for disease gene expression data for Crome Syndrome.

Pathways for Crome Syndrome

GO Terms for Crome Syndrome

Sources for Crome Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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