OOCH
MCID: OST151
MIFTS: 21

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 58
Ooch 58 54
Osteoporosis Oculocutaneous Hypopigmentation Syndrome 54
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome 60
Hernández-Fragoso Syndrome 60
Hernandez Fragoso Syndrome 74
Ooch Syndrome 54
Oochs 60

Characteristics:

Orphanet epidemiological data:

60
osteoporosis-oculocutaneous hypopigmentation syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
? autosomal recessive


HPO:

33
osteoporosis and oculocutaneous hypopigmentation syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Osteoporosis and Oculocutaneous Hypopigmentation 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: 2786Disease definitionOsteoporosis-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, is also known as ooch. Affiliated tissues include skin and bone, and related phenotypes are nystagmus and kyphosis

Description from OMIM: 601220

Related Diseases for Osteoporosis and Oculocutaneous Hypopigmentation Syndrome

Symptoms & Phenotypes for Osteoporosis and Oculocutaneous Hypopigmentation Syndrome

Human phenotypes related to Osteoporosis and Oculocutaneous Hypopigmentation Syndrome:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
2 kyphosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002808
3 visual impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000505
4 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
5 osteoporosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000939
6 pallor 60 33 hallmark (90%) Very frequent (99-80%) HP:0000980
7 platyspondyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000926
8 myopia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000545
9 abnormal retinal morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0000479
10 albinism 60 33 hallmark (90%) Very frequent (99-80%) HP:0001022
11 hypopigmentation of the skin 60 33 Very frequent (99-80%) HP:0001010
12 hypopigmentation of hair 60 Very frequent (99-80%)
13 ocular albinism 33 HP:0001107
14 generalized osteoporosis 33 HP:0040160

Symptoms via clinical synopsis from OMIM:

58
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:

42
Skin, Bone

Publications for Osteoporosis and Oculocutaneous Hypopigmentation Syndrome

Articles related to Osteoporosis and Oculocutaneous Hypopigmentation Syndrome:

# Title Authors Year
1
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. ( 23902421 )
2013
2
Zeotype ionic crystal of Cs5[Cr3O(OOCH)6(H2O)3][alpha-CoW12O40].7.5H2O with shape-selective adsorption of water. ( 14871069 )
2004
3
Unique guest-inclusion properties of a breathing ionic crystal of K3[Cr3O(OOCH)6(H2O)3][alpha-SiW12O40].16 H2O. ( 14673856 )
2003
4
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. ( 12203495 )
2002

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
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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