MCID: OCL033
MIFTS: 31

Oculocerebral Syndrome with Hypopigmentation

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Oculocerebral Syndrome with Hypopigmentation

MalaCards integrated aliases for Oculocerebral Syndrome with Hypopigmentation:

Name: Oculocerebral Syndrome with Hypopigmentation 56 52 71
Cross Syndrome 56 52 58 71
Kramer Syndrome 56 52
Oculocerebral Hypopigmentation Syndrome, Cross Type 58
Oculocerebral Hypopigmentation Syndrome Type Preus 71
Hypopigmentation Oculocerebral Syndrome Cross Type 52
Oculocerebral Hypopigmentation Syndrome 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
oculocerebral syndrome with hypopigmentation:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Oculocerebral Syndrome with Hypopigmentation

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2719 Definition Oculocerebral hypopigmentation syndrome , Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus ), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia. Visit the Orphanet disease page for more resources.

MalaCards based summary : Oculocerebral Syndrome with Hypopigmentation, also known as cross syndrome, is related to acrodermatitis enteropathica, zinc-deficiency type and ataxia and polyneuropathy, adult-onset. Affiliated tissues include eye, skin and bone marrow, and related phenotypes are intellectual disability and short stature

Wikipedia : 74 Cross-McKusick-Breen syndrome (also known as "Cross syndrome", "hypopigmentation and microphthalmia",... more...

More information from OMIM: 257800

Related Diseases for Oculocerebral Syndrome with Hypopigmentation

Diseases related to Oculocerebral Syndrome with Hypopigmentation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 acrodermatitis enteropathica, zinc-deficiency type 11.2
2 ataxia and polyneuropathy, adult-onset 10.4
3 quadriplegia 10.3
4 osteoporosis 10.2
5 branchiootic syndrome 1 10.2
6 bone mineral density quantitative trait locus 8 10.2
7 bone mineral density quantitative trait locus 15 10.2
8 joint laxity, short stature, and myopia 10.2
9 oculocutaneous albinism 10.2
10 microcephaly 10.2
11 myopia 10.2
12 bartter disease 10.2
13 albinism 10.2
14 cerebral atrophy 10.2
15 oculocerebral hypopigmentation syndrome of preus 10.2
16 athetosis 10.2
17 down syndrome 10.0
18 williams-beuren syndrome 10.0
19 autism spectrum disorder 9.9
20 autism 9.9
21 fragile x syndrome 9.8
22 alacrima, achalasia, and mental retardation syndrome 9.7
23 systemic lupus erythematosus 9.6
24 smith-magenis syndrome 9.6
25 spondylosis, cervical 9.6
26 tuberous sclerosis 1 9.6
27 tuberous sclerosis 9.6
28 spondylosis 9.6
29 developmental coordination disorder 9.6
30 developmental dyspraxia 9.6
31 headache 9.6
32 angelman syndrome 9.4
33 hand skill, relative 9.4
34 attention deficit-hyperactivity disorder 9.4
35 rheumatoid arthritis 9.4
36 digeorge syndrome 9.4
37 3-methylglutaconic aciduria, type iii 9.4
38 kearns-sayre syndrome 9.4
39 dysphasia, familial developmental 9.4
40 pulmonary disease, chronic obstructive 9.4
41 anxiety 9.4
42 potocki-lupski syndrome 9.4
43 specific language impairment 9.4
44 inguinal hernia 9.4
45 respiratory failure 9.4
46 horner's syndrome 9.4
47 visual epilepsy 9.4
48 dyscalculia 9.4
49 gonadal dysgenesis 9.4
50 turner syndrome 9.4

Graphical network of the top 20 diseases related to Oculocerebral Syndrome with Hypopigmentation:



Diseases related to Oculocerebral Syndrome with Hypopigmentation

Symptoms & Phenotypes for Oculocerebral Syndrome with Hypopigmentation

Human phenotypes related to Oculocerebral Syndrome with Hypopigmentation:

58 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 abnormal palate morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000174
4 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
5 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
6 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
7 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
8 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
9 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
10 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
11 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
12 spastic tetraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0002510
13 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
14 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
15 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
16 microdontia 58 31 frequent (33%) Frequent (79-30%) HP:0000691
17 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
18 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
19 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
20 arachnodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001166
21 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
22 abnormality of vision 58 31 frequent (33%) Frequent (79-30%) HP:0000504
23 abnormality of extrapyramidal motor function 58 31 frequent (33%) Frequent (79-30%) HP:0002071
24 aplasia/hypoplasia affecting the eye 58 31 frequent (33%) Frequent (79-30%) HP:0008056
25 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
26 ectropion 58 31 frequent (33%) Frequent (79-30%) HP:0000656
27 ocular albinism 58 31 frequent (33%) Frequent (79-30%) HP:0001107
28 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
29 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
30 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
31 abnormal thumb morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001172
32 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
33 hypopigmentation of hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0005599
34 dandy-walker malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001305
35 abnormality of the voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001608
36 choroideremia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001139
37 abnormality of bone marrow cell morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005561
38 athetosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002305
39 ureteral stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000071
40 spasticity 58 31 Frequent (79-30%) HP:0001257
41 growth delay 58 31 Frequent (79-30%) HP:0001510
42 abnormality of the eye 58 31 Frequent (79-30%) HP:0000478
43 abnormality of movement 58 Frequent (79-30%)
44 abnormality of the urinary system 58 Occasional (29-5%)
45 iris hypopigmentation 58 Occasional (29-5%)
46 silver-gray hair 31 HP:0002218
47 hypopigmentation of the skin 31 HP:0001010

Symptoms via clinical synopsis from OMIM:

56
Neuro:
spasticity
mental retardation
athetoid movements
dandy-walker cyst

Skin:
hypopigmentation
silver-gray hair color

Growth:
growth retardation

Eyes:
ocular anomalies

Clinical features from OMIM:

257800

Drugs & Therapeutics for Oculocerebral Syndrome with Hypopigmentation

Search Clinical Trials , NIH Clinical Center for Oculocerebral Syndrome with Hypopigmentation

Genetic Tests for Oculocerebral Syndrome with Hypopigmentation

Anatomical Context for Oculocerebral Syndrome with Hypopigmentation

MalaCards organs/tissues related to Oculocerebral Syndrome with Hypopigmentation:

40
Eye, Skin, Bone Marrow, Bone, Brain

Publications for Oculocerebral Syndrome with Hypopigmentation

Articles related to Oculocerebral Syndrome with Hypopigmentation:

(show top 50) (show all 75)
# Title Authors PMID Year
1
A new case of oculocerebral hypopigmentation syndrome (Cross syndrome) with additional findings. 61 56
9112000 1997
2
Oculocerebral syndrome with hypopigmentation (Cross syndrome): report of a new case. 61 56
1544218 1992
3
Oculocerebral syndrome with hypopigmentation (Cross syndrome): the mixed pattern of hair pigmentation as an important diagnostic sign. 56 61
1801851 1991
4
Oculocerebral hypopigmentation syndrome (Cross syndrome) in a Gipsy child. 56 61
2596292 1989
5
Oculocerebral syndrome with hypopigmentation (Cross syndrome). Report of two siblings born to consanguineous parents. 61 56
3191612 1988
6
An oculocerebral hypopigmentation syndrome. 56 61
6663291 1983
7
A new oculocerebral syndrome with hypopigmentation. 61 56
4959856 1967
8
Oculocerebral hypopigmentation syndrome associated with Bartter syndrome. 56
8322826 1993
9
An oculocerebral hypopigmentation syndrome: a case report with clinical, histochemical, and ultrastructural findings. 56
3104590 1987
10
A cross-syndrome approach to the social phenotype of neurodevelopmental disorders: Focusing on social vulnerability and social interaction style. 61
32142968 2020
11
Sensory processing profiles and autistic symptoms as predictive factors in autism spectrum disorder and Williams syndrome. 61
32400919 2020
12
Effects of eccentric muscle energy technique versus static stretching exercises in the management of cervical dysfunction in upper cross syndrome: a randomized control trial. 61
32207413 2020
13
Attentional abilities constrain language development: A cross-syndrome infant/toddler study. 61
32154971 2020
14
Sleep is atypical across neurodevelopmental disorders in infants and toddlers: A cross-syndrome study. 61
31864111 2020
15
Profiles of atypical sensory processing in Angelman, Cornelia de Lange and Fragile X syndromes. 61
31828905 2020
16
Shared and syndrome-specific adaptive difficulties in preschoolers with Williams syndrome and autism spectrum disorder: a cross-syndrome study. 61
31321842 2019
17
A Cross-Syndrome Comparison of Sleep-Dependent Learning on a Cognitive Procedural Task. 61
31199684 2019
18
Photogrammetric Analysis of Upper Cross Syndrome among Teachers and the Effects of National Academy of Sports Medicine Exercises with Ergonomic Intervention on the Syndrome. 61
31586371 2019
19
Parent-Reported Communication Abilities of Children with Sotos Syndrome: Evidence from the Children's Communication Checklist-2. 61
30536215 2019
20
Important problems in the diagnosis and treatment of primary sclerosing cholangitis (based on the Russian consensus on diagnosis and treatment autoimmune hepatitis. Moscow, 2018). 61
31094167 2019
21
Prevalence of Upper Cross Syndrome in Laundry Workers. 61
31040591 2019
22
Parental views on special educational needs provision: Cross-syndrome comparisons in Williams Syndrome, Down Syndrome, and Autism Spectrum Disorders. 61
29981951 2018
23
Sensory and motor differences in Autism Spectrum Conditions and developmental coordination disorder in children: A cross-syndrome study. 61
29408162 2018
24
A cross-syndrome cohort comparison of sleep disturbance in children with Smith-Magenis syndrome, Angelman syndrome, autism spectrum disorder and tuberous sclerosis complex. 61
29490614 2018
25
Brief Report: Repetitive Behaviour Profiles in Williams syndrome: Cross Syndrome Comparisons with Prader-Willi and Down syndromes. 61
28980100 2018
26
The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison. 61
29329513 2018
27
Studying child development in genetic models of ASD. 61
30447754 2018
28
Comparing the broad socio-cognitive profile of youth with Williams syndrome and 22q11.2 deletion syndrome. 61
28990288 2017
29
Numerical magnitude processing impairments in genetic syndromes: a cross-syndrome comparison of Turner and 22q11.2 deletion syndromes. 61
27748007 2017
30
A cross-syndrome study of the differential effects of sleep on declarative memory consolidation in children with neurodevelopmental disorders. 61
26690566 2017
31
Brief Report: Autism Symptoms in Infants with Fragile X Syndrome. 61
27628938 2016
32
Cross-syndrome comparison of real-world executive functioning and problem solving using a new problem-solving questionnaire. 61
27521717 2016
33
A cross-syndrome evaluation of a new attention rating scale: The Scale of Attention in Intellectual Disability. 61
27348856 2016
34
Overlapping Phenotypes in Autism Spectrum Disorder and Developmental Coordination Disorder: A Cross-Syndrome Comparison of Motor and Social Skills. 61
27126816 2016
35
Infant Development in Fragile X Syndrome: Cross-Syndrome Comparisons. 61
26864160 2016
36
Rethinking the concepts of 'local or global processors': evidence from Williams syndrome, Down syndrome, and Autism Spectrum Disorders. 61
26010432 2016
37
Developmental trajectories of hierarchical visuo-spatial processing in fragile X syndrome and ASD: Within- and cross-syndrome variability. 61
26809150 2016
38
Risk Factors Associated With Language in Autism Spectrum Disorder: Clues to Underlying Mechanisms. 61
26502110 2016
39
Atypical development of configural face recognition in children with autism, Down syndrome and Williams syndrome. 61
25059077 2015
40
Cardiac autonomic regulation in autism and Fragile X syndrome: a review. 61
25420222 2015
41
Concurrent Relations between Face Scanning and Language: A Cross-Syndrome Infant Study. 61
26426329 2015
42
Dual intersection syndrome of the forearm: a case report. 61
26587172 2015
43
Motor deficits in children with autism spectrum disorder: a cross-syndrome study. 61
25258309 2014
44
What and why understanding in autism spectrum disorders and williams syndrome: similarities and differences. 61
24604708 2014
45
Self-injury and aggression in tuberous sclerosis complex: cross syndrome comparison and associated risk markers. 61
24822087 2014
46
Learning to read in Williams syndrome and Down syndrome: syndrome-specific precursors and developmental trajectories. 61
23718731 2013
47
Attention in Williams syndrome and Down's syndrome: performance on the new early childhood attention battery. 61
23659894 2013
48
Cross syndrome comparison of sleep problems in children with Down syndrome and Williams syndrome. 61
23475007 2013
49
[Cross-autoimmune syndromes in hepatology]. 61
24294777 2013
50
Genetic and environmental vulnerabilities in children with neurodevelopmental disorders. 61
23045661 2012

Variations for Oculocerebral Syndrome with Hypopigmentation

Expression for Oculocerebral Syndrome with Hypopigmentation

Search GEO for disease gene expression data for Oculocerebral Syndrome with Hypopigmentation.

Pathways for Oculocerebral Syndrome with Hypopigmentation

GO Terms for Oculocerebral Syndrome with Hypopigmentation

Sources for Oculocerebral Syndrome with Hypopigmentation

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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