OOCH
MCID: OST151
MIFTS: 23

Osteoporosis and Oculocutaneous Hypopigmentation Syndrome (OOCH)

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Osteoporosis and Oculocutaneous Hypopigmentation Syndrome

MalaCards integrated aliases for Osteoporosis and Oculocutaneous Hypopigmentation Syndrome:

Name: Osteoporosis and Oculocutaneous Hypopigmentation Syndrome 56
Ooch 56 52
Osteoporosis Oculocutaneous Hypopigmentation Syndrome 52
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome 58
Hernandez-Fragoso Syndrome 58
Hernandez Fragoso Syndrome 71
Ooch Syndrome 52
Oochs 58

Characteristics:

Orphanet epidemiological data:

58
osteoporosis-oculocutaneous hypopigmentation syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
? autosomal recessive


HPO:

31
osteoporosis and oculocutaneous hypopigmentation syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 601220
UMLS via Orphanet 72 C1832592
Orphanet 58 ORPHA2786
MedGen 41 C1832592
UMLS 71 C1832592

Summaries for Osteoporosis and Oculocutaneous Hypopigmentation Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2786 Definition Osteoporosis -oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive . Visit the Orphanet disease page for more resources.

MalaCards based summary : Osteoporosis and Oculocutaneous Hypopigmentation Syndrome, also known as ooch, is related to osteoporosis and bone mineral density quantitative trait locus 8. Affiliated tissues include bone and skin, and related phenotypes are nystagmus and kyphosis

More information from OMIM: 601220

Related Diseases for Osteoporosis and Oculocutaneous Hypopigmentation Syndrome

Diseases related to Osteoporosis and Oculocutaneous Hypopigmentation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 osteoporosis 10.2
2 bone mineral density quantitative trait locus 8 10.2
3 bone mineral density quantitative trait locus 15 10.2

Symptoms & Phenotypes for Osteoporosis and Oculocutaneous Hypopigmentation Syndrome

Human phenotypes related to Osteoporosis and Oculocutaneous Hypopigmentation Syndrome:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002808
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
5 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
6 pallor 58 31 hallmark (90%) Very frequent (99-80%) HP:0000980
7 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
8 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
9 abnormal retinal morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000479
10 albinism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001022
11 hypopigmentation of the skin 58 31 Very frequent (99-80%) HP:0001010
12 hypopigmentation of hair 58 Very frequent (99-80%)
13 ocular albinism 31 HP:0001107
14 generalized osteoporosis 31 HP:0040160

Symptoms via clinical synopsis from OMIM:

56
Skel:
generalized osteoporosis

Neuro:
no cerebral defects

Eyes:
oculocutaneous hypopigmentation syndrome (ooch)

Clinical features from OMIM:

601220

Drugs & Therapeutics for Osteoporosis and Oculocutaneous Hypopigmentation Syndrome

Search Clinical Trials , NIH Clinical Center for Osteoporosis and Oculocutaneous Hypopigmentation Syndrome

Genetic Tests for Osteoporosis and Oculocutaneous Hypopigmentation Syndrome

Anatomical Context for Osteoporosis and Oculocutaneous Hypopigmentation Syndrome

MalaCards organs/tissues related to Osteoporosis and Oculocutaneous Hypopigmentation Syndrome:

40
Bone, Skin

Publications for Osteoporosis and Oculocutaneous Hypopigmentation Syndrome

Articles related to Osteoporosis and Oculocutaneous Hypopigmentation Syndrome:

(show all 40)
# Title Authors PMID Year
1
Generalized osteoporosis in a patient with oculocutaneous hypopigmentation syndrome (OOCHS), without cerebral defects. A new syndrome? 56
8721572 1996
2
Multireference Study of the H2COO (Criegee Intermediate) + O3 Addition: A Reaction of Possible Tropospheric Interest. 61
31968170 2020
3
Bi-Doped SnO Nanosheets Supported on Cu Foam for Electrochemical Reduction of CO2 to HCOOH. 61
31623434 2019
4
How Does Pyridoxamine Inhibit the Formation of Advanced Glycation End Products? The Role of Its Primary Antioxidant Activity. 61
31480509 2019
5
A New Strategy for the Synthesis of Hydroxyl Terminated Polystyrene-b-Polybutadiene-b-Polystyrene Triblock Copolymer with High Cis-1, 4 Content. 61
30960582 2019
6
Reaching Milestones in the Oxygenation Chemistry of Magnesium Alkyls: towards Intimate States of O2 Activation and the First Monomeric Well-Defined Magnesium Alkylperoxide. 61
30516292 2019
7
Effect of the ammonium ion on proton conduction in porous ionic crystals based on Keggin-type silicododecatungstate. 61
30398181 2018
8
The reactions of plant hormones with reactive oxygen species: chemical insights at a molecular level. 61
30155564 2018
9
Ground-State Structure of the Proton-Bound Formate Dimer by Cold-Ion Infrared Action Spectroscopy. 61
29923287 2018
10
Another Unprecedented Wieland Mechanism Confirmed: Hydrogen Formation from Hydrogen Peroxide, Formaldehyde, and Sodium Hydroxide. 61
29578273 2018
11
Major signal suppression from metal ion clusters in SFC/ESI-MS - Cause and effects. 61
29579734 2018
12
Noncollinear Two-Component Quasirelativistic Description of Spin Interactions in Exchange-Coupled Systems. Mapping Generalized Broken-Symmetry States to Effective Spin Hamiltonians. 61
29376389 2018
13
Proton conduction in alkali metal ion-exchanged porous ionic crystals. 61
28936524 2017
14
Non-heme μ-Oxo- and bis(μ-carboxylato)-bridged diiron(iii) complexes of a 3N ligand as catalysts for alkane hydroxylation: stereoelectronic factors of carboxylate bridges determine the catalytic efficiency. 61
27336757 2016
15
Computational Study of Formic Acid Dehydrogenation Catalyzed by Al(III)-Bis(imino)pyridine. 61
26879469 2016
16
Reduction-Induced Highly Selective Uptake of Cesium Ions by an Ionic Crystal Based on Silicododecamolybdate. 61
26895082 2016
17
Vibrational assignment and structure of trinuclear oxo-centered of basic formate iron(III) and chromium(III) complexes: a density functional theory study. 61
24792204 2014
18
Reversible potentials for steps in methanol and formic acid oxidation to CO2; adsorption energies of intermediates on the ideal electrocatalyst for methanol oxidation and CO2 reduction. 61
24741672 2014
19
The reaction of formaldehyde carbonyl oxide with the methyl peroxy radical and its relevance in the chemistry of the atmosphere. 61
24091999 2013
20
Porous ionic crystals modified by post-synthesis of K2[Cr3O(OOCH)6(etpy)3]2[α-SiW12O40]·8H2O through single-crystal-to-single-crystal transformation. 61
23902421 2013
21
Alternating copolymerization of carbon dioxide and cyclohexene oxide catalyzed by salen CoIII(acetate) complexes. 61
23956484 2013
22
Stepwise assembly of homochiral coordination polymers based on the precursor of an enantiopure Yb3Mn6 cluster. 61
22854799 2012
23
Capsaicin, a tasty free radical scavenger: mechanism of action and kinetics. 61
22188587 2012
24
Uric and 1-methyluric acids: metabolic wastes or antiradical protectors? 61
22097927 2011
25
Computational study of the reaction mechanism of the methylperoxy self-reaction. 61
22004094 2011
26
Is caffeine a good scavenger of oxygenated free radicals? 61
21438616 2011
27
DEPMPO: an efficient tool for the coupled ESR-spin trapping of alkylperoxyl radicals in water. 61
21347497 2011
28
How does the nickel pincer complex catalyze the conversion of CO2 to a methanol derivative? A computational mechanistic study. 61
21413735 2011
29
Cross-linked chitosan films: effect of cross-linking density on swelling parameters. 61
20884460 2010
30
Pentagon-fused hollow fullerene in C78 family retrieved by chlorination. 61
20722387 2010
31
Thermochemistry, bond energies, and internal rotor potentials of dimethyl tetraoxide. 61
17983209 2007
32
Film-forming process and biocide assessment of high-molecular-weight chitosan as determined by combined ATR-FTIR spectroscopy and antimicrobial assays. 61
16929529 2006
33
Recognition of small polar molecules with an ionic crystal of alpha-Keggin-type polyoxometalate with a macrocation. 61
16780336 2006
34
Insight into selected reactions in low-temperature dimethyl ether combustion from Born-Oppenheimer molecular dynamics. 61
16435800 2006
35
Selective antagonist at D3 receptors, but not non-selective partial agonists, influences the expression of cocaine-induced conditioned place preference in free-feeding rats. 61
16405981 2005
36
Zeotype ionic crystal of Cs5[Cr3O(OOCH)6(H2O)3][alpha-CoW12O40].7.5H2O with shape-selective adsorption of water. 61
14871069 2004
37
Unique guest-inclusion properties of a breathing ionic crystal of K3[Cr3O(OOCH)6(H2O)3][alpha-SiW12O40].16 H2O. 61
14673856 2003
38
The first structural characterisation of a group 2 metal alkylperoxide complex: comments on the cleavage of dioxygen by magnesium alkyl complexes. 61
14566890 2003
39
A breathing ionic crystal displaying selective binding of small alcohols and nitriles: K(3)[Cr(3)O(OOCH)(6)(H(2)O)(3)][alpha-SiW(12)O(40)] x 16H(2)O. 61
12203495 2002
40
Chemical pumping through thermal decomposition of dimethyl peroxide. 61
20048956 1966

Variations for Osteoporosis and Oculocutaneous Hypopigmentation Syndrome

Expression for Osteoporosis and Oculocutaneous Hypopigmentation Syndrome

Search GEO for disease gene expression data for Osteoporosis and Oculocutaneous Hypopigmentation Syndrome.

Pathways for Osteoporosis and Oculocutaneous Hypopigmentation Syndrome

GO Terms for Osteoporosis and Oculocutaneous Hypopigmentation Syndrome

Sources for Osteoporosis and Oculocutaneous Hypopigmentation Syndrome

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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