MCID: CRM007
MIFTS: 19

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 57 76 53 59 73
Congenital Cataracts, Renal Tubular Necrosis and Encephalopathy in Two Sisters 53
Cataract-Nephropathy-Encephalopathy Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
cataract-nephropathy-encephalopathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
crome syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Crome Syndrome

NIH Rare Diseases : 53 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, is also known as congenital cataracts, renal tubular necrosis and encephalopathy in two sisters. Affiliated tissues include eye and kidney, and related phenotypes are nystagmus and intellectual disability

Wikipedia : 76 Crome syndrome is a rare disease defined by various symptoms, including epilepsy, intellectual... more...

Description from OMIM: 218900

Related Diseases for Crome Syndrome

Symptoms & Phenotypes for Crome Syndrome

Symptoms via clinical synopsis from OMIM:

57
Eyes:
nystagmus
congenital cataracts

Growth:
short stature

Neuro:
seizures
encephalopathy
cerebellar dysplasia
mental retardation

G U:
renal tubular necrosis


Clinical features from OMIM:

218900

Human phenotypes related to Crome Syndrome:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
4 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
5 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
6 renal tubular dysfunction 59 32 hallmark (90%) Very frequent (99-80%) HP:0000124
7 encephalopathy 32 HP:0001298
8 cerebellar dysplasia 32 HP:0007033
9 congenital cataract 32 HP:0000519
10 acute tubular necrosis 32 HP:0008682

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:

41
Eye, Kidney

Publications for Crome Syndrome

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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