MCID: OCL071
MIFTS: 23

Oculocerebral Hypopigmentation Syndrome of Preus

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Oculocerebral Hypopigmentation Syndrome of Preus

MalaCards integrated aliases for Oculocerebral Hypopigmentation Syndrome of Preus:

Name: Oculocerebral Hypopigmentation Syndrome of Preus 57
Oculocerebral Hypopigmentation Syndrome Type Preus 19 71
Oculocerebral Hypopigmentation Syndrome, Preus Type 58

Characteristics:


Inheritance:

Autosomal recessive 57

Prevelance:

Oculocerebral Hypopigmentation Syndrome, Preus Type: <1/1000000 (Worldwide) 58

Age Of Onset:

Oculocerebral Hypopigmentation Syndrome, Preus Type: Neonatal 58

Age Of Death:

Oculocerebral Hypopigmentation Syndrome, Preus Type: normal life expectancy 58

Classifications:

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


Summaries for Oculocerebral Hypopigmentation Syndrome of Preus

GARD: 19 Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus.

MalaCards based summary: Oculocerebral Hypopigmentation Syndrome of Preus, also known as oculocerebral hypopigmentation syndrome type preus, is related to dilution, pigmentary and oculocerebral syndrome with hypopigmentation. Affiliated tissues include skin, eye and cerebellum, and related phenotypes are intellectual disability and nystagmus

Orphanet: 58 Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus.

More information from OMIM: 257790

Related Diseases for Oculocerebral Hypopigmentation Syndrome of Preus

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

# Related Disease Score Top Affiliating Genes
1 dilution, pigmentary 10.4
2 oculocerebral syndrome with hypopigmentation 10.4

Symptoms & Phenotypes for Oculocerebral Hypopigmentation Syndrome of Preus

Human phenotypes related to Oculocerebral Hypopigmentation Syndrome of Preus:

58 30 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 nystagmus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000639
3 high palate 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000218
4 hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000365
5 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
6 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
7 hypertonia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001276
8 abnormality of immune system physiology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010978
9 aplasia/hypoplasia of the cerebellum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007360
10 generalized hypopigmentation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007513
11 white hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011364
12 hypochromic anemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001931
13 seizure 30 Hallmark (90%) HP:0001250
14 hydrocephalus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000238
15 arachnodactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001166
16 abnormality of the diencephalon 58 30 Frequent (33%) Frequent (79-30%)
HP:0010662
17 abnormality of neutrophils 58 30 Frequent (33%) Frequent (79-30%)
HP:0001874
18 ocular albinism 58 30 Frequent (33%) Frequent (79-30%)
HP:0001107
19 abnormal brainstem morphology 30 Frequent (33%) HP:0002363
20 ataxia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001251
21 cataract 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000518
22 photophobia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000613
23 reduced bone mineral density 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004349
24 abnormal renal tubule morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000091
25 abnormal hip bone morphology 30 Occasional (7.5%) HP:0003272
26 seizures 58 Very frequent (99-80%)
27 widely spaced teeth 30 HP:0000687
28 microdontia 30 HP:0000691
29 abnormality of the hip bone 58 Occasional (29-5%)
30 growth delay 30 HP:0001510
31 high, narrow palate 30 HP:0002705
32 dolichocephaly 30 HP:0000268
33 iris hypopigmentation 58 Very frequent (99-80%)
34 abnormality of brainstem morphology 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
H E E N T:
dolichocephaly
cataracts
high arched palate
small and widely spaced teeth

Neuro:
psychomotor retardation

Growth:
growth retardation

Skin:
generalized hypopigmentation

Heme:
hypochromic anemia

Clinical features from OMIM®:

257790 (Updated 24-Oct-2022)

Drugs & Therapeutics for Oculocerebral Hypopigmentation Syndrome of Preus

Search Clinical Trials, NIH Clinical Center for Oculocerebral Hypopigmentation Syndrome of Preus

Genetic Tests for Oculocerebral Hypopigmentation Syndrome of Preus

Anatomical Context for Oculocerebral Hypopigmentation Syndrome of Preus

Organs/tissues related to Oculocerebral Hypopigmentation Syndrome of Preus:

MalaCards : Skin, Eye, Cerebellum, Bone

Publications for Oculocerebral Hypopigmentation Syndrome of Preus

Articles related to Oculocerebral Hypopigmentation Syndrome of Preus:

# Title Authors PMID Year
1
An oculocerebral hypopigmentation syndrome: a case report with clinical, histochemical, and ultrastructural findings. 57
3104590 1987
2
An oculocerebral hypopigmentation syndrome. 57
6663291 1983
3
A new oculocerebral syndrome with hypopigmentation. 57
4959856 1967
4
What syndrome is this? Oculocerebral hypopigmentation syndrome of preus. 62
17542888 2007

Variations for Oculocerebral Hypopigmentation Syndrome of Preus

Expression for Oculocerebral Hypopigmentation Syndrome of Preus

Search GEO for disease gene expression data for Oculocerebral Hypopigmentation Syndrome of Preus.

Pathways for Oculocerebral Hypopigmentation Syndrome of Preus

GO Terms for Oculocerebral Hypopigmentation Syndrome of Preus

Sources for Oculocerebral Hypopigmentation Syndrome of Preus

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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